eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| noonan syndrome | ||||
| Disease ID | 143 |
|---|---|
| Disease | noonan syndrome |
| Definition | A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1. |
| Synonym | familial syndrome turners familial turner syndrome male turner syndrome males syndrome turners noonan ehmke syndrome noonan syndrome (disorder) noonan syndrome 1 noonan syndrome [disease/finding] noonan's syndrome noonan's syndrome (disorder) noonan-ehmke syndrome noonans syndrome ns1 pseudo ullrich turner syndrome pseudo-turner syndrome pseudo-ullrich-turner syndrome syndrome, familial turner syndrome, noonan syndrome, noonan-ehmke syndrome, pseudo-ullrich-turner syndrome, turner-like syndrome, ullrich-noonan turner like syndrome turner phenotype with normal karyotype turner phenotype, karyotype normal turner syndrome, familial turner's phenotype, karyotype normal turner's phenotype, karyotype normal (disorder) turner-like syndrome ullrich noonan syndrome ullrich-noonan syndrome ullrich-turner syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0028326 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:41) C0878544 | cardiomyopathy | 6 C0007194 | hypertrophic cardiomyopathy | 5 C0349639 | juvenile myelomonocytic leukemia | 2 C0008029 | cherubism | 2 C0235752 | port-wine stain | 1 C0023448 | lymphoblastic leukemia | 1 C0598894 | monocytic leukemia | 1 C0010278 | craniosynostosis | 1 C0086543 | cataract | 1 C0014121 | infective endocarditis | 1 C0020255 | hydrocephalus | 1 C0206661 | gonadoblastoma | 1 C0878544 | cardiomyopathies | 1 C0007194 | obstructive cardiomyopathy | 1 C0021775 | intermittent claudication | 1 C0027697 | nephritis | 1 C0023418 | leukemia | 1 C0023801 | lipomatosis | 1 C1290398 | cerebral artery aneurysm | 1 C0152101 | hypoplastic left heart | 1 C0152101 | hypoplastic left heart syndrome | 1 C0795690 | omphalocele | 1 C0152257 | mature cataract | 1 C0007194 | hypertrophic obstructive cardiomyopathy | 1 C1956257 | pulmonic stenosis | 1 C0007570 | coeliac disease | 1 C0007222 | cardiovascular disease | 1 C0024299 | lymphoma | 1 C0023418 | leukaemia | 1 C0023895 | liver disease | 1 C0025958 | microcephaly | 1 C0027022 | myeloproliferative disorder | 1 C0023449 | acute lymphoblastic leukemia | 1 C0949690 | spondyloarthritis | 1 C0027707 | interstitial nephritis | 1 C0041349 | tubulointerstitial nephritis | 1 C0042373 | vascular disease | 1 C0014118 | endocarditis | 1 C0006413 | burkitt lymphoma | 1 C0004114 | astrocytoma | 1 C0018801 | heart failure | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:17) 5605 | MAP2K2 | CTD_human 673 | BRAF | CTD_human;ORPHANET;GHR 5894 | RAF1 | CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT 3845 | KRAS | CTD_human;GHR;ORPHANET;UNIPROT 144568 | A2ML1 | ORPHANET 5781 | PTPN11 | CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT 4893 | NRAS | CTD_human;ORPHANET;GHR 3265 | HRAS | CTD_human 8036 | SHOC2 | CTD_human 5922 | RASA2 | ORPHANET 6654 | SOS1 | CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT 23522 | KAT6B | ORPHANET 8216 | LZTR1 | ORPHANET 6016 | RIT1 | ORPHANET 5604 | MAP2K1 | CTD_human 1969 | EPHA2 | CTD_human 6655 | SOS2 | ORPHANET |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:11) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:62) 23456 | ABCB10 | 1.462 | DISEASES 369 | ARAF | 1.179 | DISEASES 10620 | ARID3B | 2.07 | DISEASES 151888 | BTLA | 1.059 | DISEASES 594855 | CPLX3 | 2.428 | DISEASES 78987 | CRELD1 | 2.473 | DISEASES 1443 | CSH2 | 3.183 | DISEASES 8451 | CUL4A | 1.248 | DISEASES 8813 | DPM1 | 1.984 | DISEASES 147409 | DSG4 | 3.747 | DISEASES 23136 | EPB41L3 | 1.093 | DISEASES 2160 | F11 | 2.204 | DISEASES 2245 | FGD1 | 1.397 | DISEASES 2258 | FGF13 | 1.451 | DISEASES 8822 | FGF17 | 1.687 | DISEASES 2328 | FMO3 | 1.665 | DISEASES 448831 | FRG2 | 2.332 | DISEASES 2563 | GABRD | 1.825 | DISEASES 2885 | GRB2 | 2.353 | DISEASES 23426 | GRIP1 | 1.65 | DISEASES 9146 | HGS | 1.107 | DISEASES 3483 | IGFALS | 3.27 | DISEASES 3486 | IGFBP3 | 2.557 | DISEASES 3980 | LIG3 | 1.998 | DISEASES 4043 | LRPAP1 | 1.03 | DISEASES 5609 | MAP2K7 | 3.511 | DISEASES 4168 | MCF2 | 2.53 | DISEASES 23263 | MCF2L | 2.364 | DISEASES 9969 | MED13 | 2.039 | DISEASES 9019 | MPZL1 | 4.092 | DISEASES 4606 | MYBPC2 | 1.269 | DISEASES 54820 | NDE1 | 1.473 | DISEASES 4763 | NF1 | 4.985 | DISEASES 4776 | NFATC4 | 1.453 | DISEASES 4774 | NFIA | 1.67 | DISEASES 4784 | NFIX | 1.91 | DISEASES 4893 | NRAS | 2.812 | DISEASES 10215 | OLIG2 | 1.461 | DISEASES 55795 | PCID2 | 3.401 | DISEASES 5501 | PPP1CC | 1.46 | DISEASES 8858 | PROZ | 2.307 | DISEASES 5781 | PTPN11 | 7.858 | DISEASES 5786 | PTPRA | 2.834 | DISEASES 5795 | PTPRJ | 1.211 | DISEASES 6016 | RIT1 | 3.216 | DISEASES 55599 | RNPC3 | 2.636 | DISEASES 23513 | SCRIB | 1.795 | DISEASES 6452 | SH3BP2 | 2.815 | DISEASES 8036 | SHOC2 | 6.734 | DISEASES 6473 | SHOX | 3.385 | DISEASES 25942 | SIN3A | 1.466 | DISEASES 6654 | SOS1 | 6.798 | DISEASES 200734 | SPRED2 | 2.021 | DISEASES 6714 | SRC | 3.646 | DISEASES 6731 | SRP72 | 1.794 | DISEASES 6776 | STAT5A | 1.049 | DISEASES 64220 | STRA6 | 1.422 | DISEASES 23224 | SYNE2 | 1.067 | DISEASES 57057 | TBX20 | 1.521 | DISEASES 51442 | VGLL1 | 2.733 | DISEASES 157680 | VPS13B | 1.838 | DISEASES 51160 | VPS28 | 2.949 | DISEASES |
| Locus | Symbol | Locus(Total Locus:12) |
| Disease ID | 143 |
|---|---|
| Disease | noonan syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:50) C2029884 | hearing loss C1963137 | hydrocephalus C1962974 | chylothorax C1961102 | acute lymphoblastic leukemia C1834582 | transient abnormal myelopoiesis C1541923 | infective endocarditis C1442871 | craniosynostosis C1321581 | bezoar C1274281 | vulvar angiokeratoma C0948826 | coronary myocardial bridging C0878787 | growth failure C0751545 | giant cell aortitis C0748428 | right atrial thrombus C0398639 | amegakaryocytic thrombocytopenia C0376293 | stigmata C0349639 | juvenile myelomonocytic leukaemia C0340425 | hypertrophic cardiomyopathy C0340279 | ventricular hypertrophy C0264395 | swyer-james syndrome C0263428 | ulerythema ophryogenes C0263417 | cutis verticis gyrata C0243050 | cardiovascular abnormalities C0238669 | aortic root dilatation C0162678 | neurofibromatosis C0149931 | migraine C0085136 | tumor of the central nervous system C0039106 | pigmented villonodular synovitis C0038454 | stroke C0038454 | cerebral infarction C0035436 | acute rheumatic fever C0035412 | rhabdomyosarcoma C0027022 | myeloproliferative disorder C0024236 | lymphedema C0024214 | lymphangiectasis C0023480 | chronic myelomonocytic leukaemia C0023449 | acute lymphoblastic leukaemia C0023434 | chronic lymphatic leukemia C0020514 | hyperprolactinemia C0020305 | hydrops fetalis C0019829 | hodgkin's lymphoma C0019087 | hemorrhagic diathesis C0018799 | cardiopathy C0014175 | endometriosis C0008029 | cherubism C0007194 | obstructive cardiomyopathy C0007194 | hypertrophic obstructive cardiomyopathy C0007194 | hypertrophic cardiomyopathies C0004364 | autoimmune diseases C0004352 | autistic disorder C0002020 | alexithymia |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:10) C0007194 | hypertrophic cardiomyopathy | 5 C0008029 | cherubism | 2 C0010278 | craniosynostosis | 1 C0023449 | acute lymphoblastic leukemia | 1 C0007194 | hypertrophic obstructive cardiomyopathy | 1 C0020255 | hydrocephalus | 1 C0263428 | ulerythema ophryogenes | 1 C0014121 | infective endocarditis | 1 C0085136 | tumor of the central nervous system | 1 C0027022 | myeloproliferative disorder | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:63) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894229 | 17324647 | 3845 | KRAS | umls:C0028326 | BeFree | We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syndrome (G12S mutation in the HRAS gene) and one with cardio-facio-cutaneous (CFC) syndrome or possibly Noonan syndrome (Q22E mutation in the KRAS gene). | 0.264970109 | 2007 | HRAS;LRRC56 | 11 | 534289 | C | T,G,A |
| rs104894229 | 17324647 | 3265 | HRAS | umls:C0028326 | BeFree | We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syndrome (G12S mutation in the HRAS gene) and one with cardio-facio-cutaneous (CFC) syndrome or possibly Noonan syndrome (Q22E mutation in the KRAS gene). | 0.121085767 | 2007 | HRAS;LRRC56 | 11 | 534289 | C | T,G,A |
| rs121913530 | 17324647 | 3845 | KRAS | umls:C0028326 | BeFree | We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syndrome (G12S mutation in the HRAS gene) and one with cardio-facio-cutaneous (CFC) syndrome or possibly Noonan syndrome (Q22E mutation in the KRAS gene). | 0.264970109 | 2007 | KRAS | 12 | 25245351 | C | T,G,A |
| rs121913530 | 17324647 | 3265 | HRAS | umls:C0028326 | BeFree | We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syndrome (G12S mutation in the HRAS gene) and one with cardio-facio-cutaneous (CFC) syndrome or possibly Noonan syndrome (Q22E mutation in the KRAS gene). | 0.121085767 | 2007 | KRAS | 12 | 25245351 | C | T,G,A |
| rs121918453 | 17177198 | 5781 | PTPN11 | umls:C0028326 | BeFree | Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. | 0.694446819 | 2007 | PTPN11 | 12 | 112450394 | G | A,C,T |
| rs121918453 | NA | 5781 | PTPN11 | umls:C0028326 | CLINVAR | NA | 0.694446819 | NA | PTPN11 | 12 | 112450394 | G | A,C,T |
| rs121918454 | NA | 5781 | PTPN11 | umls:C0028326 | CLINVAR | NA | 0.694446819 | NA | PTPN11 | 12 | 112450395 | C | G,T |
| rs121918455 | NA | 5781 | PTPN11 | umls:C0028326 | CLINVAR | NA | 0.694446819 | NA | PTPN11 | 12 | 112477720 | A | C,G |
| rs121918456 | NA | 5781 | PTPN11 | umls:C0028326 | CLINVAR | NA | 0.694446819 | NA | PTPN11 | 12 | 112473023 | A | C,G |
| rs121918456 | 12161596 | 5781 | PTPN11 | umls:C0028326 | BeFree | We hypothesise that some PTPN11 mutations are associated with the typical Noonan syndrome phenotype and that other mutations, such as the Y279C mutation reported here, are associated with both the Noonan syndrome phenotype and with skin pigmentation anomalies, such as multiple lentigines or café au lait spots. | 0.694446819 | 2002 | PTPN11 | 12 | 112473023 | A | C,G |
| rs121918457 | NA | 5781 | PTPN11 | umls:C0028326 | CLINVAR | NA | 0.694446819 | NA | PTPN11 | 12 | 112488466 | C | T |
| rs121918458 | NA | 5781 | PTPN11 | umls:C0028326 | CLINVAR | NA | 0.694446819 | NA | PTPN11 | 12 | 112489080 | T | A,G |
| rs121918459 | 22711529 | 52 | ACP1 | umls:C0028326 | BeFree | Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome. | 0.00434307 | 2012 | PTPN11 | 12 | 112450368 | A | G |
| rs121918459 | 22711529 | 5781 | PTPN11 | umls:C0028326 | BeFree | Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome. | 0.694446819 | 2012 | PTPN11 | 12 | 112450368 | A | G |
| rs121918459 | NA | 5781 | PTPN11 | umls:C0028326 | CLINVAR | NA | 0.694446819 | NA | PTPN11 | 12 | 112450368 | A | G |
| rs121918460 | NA | 5781 | PTPN11 | umls:C0028326 | CLINVAR | NA | 0.694446819 | NA | PTPN11 | 12 | 112450364 | T | A,G |
| rs121918460 | 22711529 | 52 | ACP1 | umls:C0028326 | BeFree | Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome. | 0.00434307 | 2012 | PTPN11 | 12 | 112450364 | T | A,G |
| rs121918460 | 22711529 | 5781 | PTPN11 | umls:C0028326 | BeFree | Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome. | 0.694446819 | 2012 | PTPN11 | 12 | 112450364 | T | A,G |
| rs121918461 | NA | 5781 | PTPN11 | umls:C0028326 | CLINVAR | NA | 0.694446819 | NA | PTPN11 | 12 | 112450362 | A | C,G,T |
| rs121918462 | NA | 5781 | PTPN11 | umls:C0028326 | CLINVAR | NA | 0.694446819 | NA | PTPN11 | 12 | 112450398 | C | T |
| rs121918462 | 23446178 | 5781 | PTPN11 | umls:C0028326 | BeFree | A de novo T73I mutation in PTPN11 in a neonate with severe and prolonged congenital thrombocytopenia and Noonan syndrome. | 0.694446819 | 2012 | PTPN11 | 12 | 112450398 | C | T |
| rs121918463 | NA | 5781 | PTPN11 | umls:C0028326 | CLINVAR | NA | 0.694446819 | NA | PTPN11 | 12 | 112477651 | T | A,C,G |
| rs121918464 | 17177198 | 5781 | PTPN11 | umls:C0028326 | BeFree | Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. | 0.694446819 | 2007 | PTPN11 | 12 | 112450406 | G | A,C |
| rs121918464 | NA | 5781 | PTPN11 | umls:C0028326 | CLINVAR | NA | 0.694446819 | NA | PTPN11 | 12 | 112450406 | G | A,C |
| rs121918466 | 17641779 | 5781 | PTPN11 | umls:C0028326 | BeFree | To understand the developmental stage- and cell type-specific consequences of the NS SHP2 gain-of-function mutation, Q79R, we generated transgenic mice in which the mutated protein was expressed during gestation or following birth in cardiomyocytes. | 0.694446819 | 2007 | PTPN11 | 12 | 112450416 | A | G |
| rs121918466 | 16166557 | 5781 | PTPN11 | umls:C0028326 | BeFree | Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia mesenchymal cells via extracellular signal-regulated kinase 1/2 signaling. | 0.694446819 | 2005 | PTPN11 | 12 | 112450416 | A | G |
| rs121918466 | NA | 5781 | PTPN11 | umls:C0028326 | CLINVAR | NA | 0.694446819 | NA | PTPN11 | 12 | 112450416 | A | G |
| rs137852812 | NA | 6654 | SOS1 | umls:C0028326 | CLINVAR | NA | 0.392971407 | NA | SOS1 | 2 | 39051211 | G | T |
| rs137852813 | 24522193 | 56731 | SLC2A4RG | umls:C0028326 | BeFree | Intriguingly, CIIA failed to inhibit the Ras-specific GEF activity of Noonan-syndrome-associated SOS1 mutants (M269R, R552G, W729L and E846K). | 0.000542884 | 2014 | SOS1 | 2 | 39051202 | A | G,C |
| rs137852813 | 24522193 | 9181 | ARHGEF2 | umls:C0028326 | BeFree | Intriguingly, CIIA failed to inhibit the Ras-specific GEF activity of Noonan-syndrome-associated SOS1 mutants (M269R, R552G, W729L and E846K). | 0.000542884 | 2014 | SOS1 | 2 | 39051202 | A | G,C |
| rs137852813 | 24522193 | 6654 | SOS1 | umls:C0028326 | BeFree | Intriguingly, CIIA failed to inhibit the Ras-specific GEF activity of Noonan-syndrome-associated SOS1 mutants (M269R, R552G, W729L and E846K). | 0.392971407 | 2014 | SOS1 | 2 | 39051202 | A | G,C |
| rs137852814 | 24522193 | 56731 | SLC2A4RG | umls:C0028326 | BeFree | Intriguingly, CIIA failed to inhibit the Ras-specific GEF activity of Noonan-syndrome-associated SOS1 mutants (M269R, R552G, W729L and E846K). | 0.000542884 | 2014 | SOS1 | 2 | 39022774 | T | C |
| rs137852814 | 24522193 | 9181 | ARHGEF2 | umls:C0028326 | BeFree | Intriguingly, CIIA failed to inhibit the Ras-specific GEF activity of Noonan-syndrome-associated SOS1 mutants (M269R, R552G, W729L and E846K). | 0.000542884 | 2014 | SOS1 | 2 | 39022774 | T | C |
| rs137852814 | 24522193 | 6654 | SOS1 | umls:C0028326 | BeFree | Intriguingly, CIIA failed to inhibit the Ras-specific GEF activity of Noonan-syndrome-associated SOS1 mutants (M269R, R552G, W729L and E846K). | 0.392971407 | 2014 | SOS1 | 2 | 39022774 | T | C |
| rs137852814 | NA | 6654 | SOS1 | umls:C0028326 | CLINVAR | NA | 0.392971407 | NA | SOS1 | 2 | 39022774 | T | C |
| rs267607079 | NA | 6654 | SOS1 | umls:C0028326 | CLINVAR | NA | 0.392971407 | NA | SOS1 | 2 | 39022772 | C | G,A |
| rs28933386 | NA | 5781 | PTPN11 | umls:C0028326 | CLINVAR | NA | 0.694446819 | NA | PTPN11 | 12 | 112477719 | A | G |
| rs28933387 | 11992261 | 5781 | PTPN11 | umls:C0028326 | UNIPROT | PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. | 0.694446819 | 2002 | NA | NA | NA | NA | NA |
| rs3730271 | 23391722 | 5894 | RAF1 | umls:C0028326 | BeFree | Excessive production of lymphatic ECs resulted in lymphangiectasia that was highly reminiscent of abnormal lymphatics seen in Noonan syndrome and similar RASopathies. Inhibition of ERK signaling during development abrogated the lymphatic differentiation program and rescued the lymphatic phenotypes induced by expression of RAF1(S259A). | 0.383884342 | 2013 | RAF1 | 3 | 12604195 | A | T,G |
| rs397507501 | NA | 5781 | PTPN11 | umls:C0028326 | CLINVAR | NA | 0.694446819 | NA | PTPN11 | 12 | 112446385 | A | G |
| rs397507505 | 16804314 | 5781 | PTPN11 | umls:C0028326 | BeFree | Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype? | 0.694446819 | 2006 | PTPN11 | 12 | 112450352 | A | C,G,T |
| rs397507514 | 17177198 | 5781 | PTPN11 | umls:C0028326 | BeFree | Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. | 0.694446819 | 2007 | PTPN11 | 12 | 112450408 | G | C,T |
| rs397507517 | NA | 5781 | PTPN11 | umls:C0028326 | CLINVAR | NA | 0.694446819 | NA | PTPN11 | 12 | 112450497 | A | C |
| rs397507520 | NA | 5781 | PTPN11 | umls:C0028326 | CLINVAR | NA | 0.694446819 | NA | PTPN11 | 12 | 112453279 | G | C,T |
| rs397507520 | 22315187 | 5781 | PTPN11 | umls:C0028326 | BeFree | Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D. | 0.694446819 | 2012 | PTPN11 | 12 | 112453279 | G | C,T |
| rs397507539 | NA | 5781 | PTPN11 | umls:C0028326 | CLINVAR | NA | 0.694446819 | NA | PTPN11 | 12 | 112489047 | C | A,G,T |
| rs397507540 | NA | 5781 | PTPN11 | umls:C0028326 | CLINVAR | NA | 0.694446819 | NA | PTPN11 | 12 | 112489048 | C | A,T |
| rs397507545 | 24754368 | 5781 | PTPN11 | umls:C0028326 | BeFree | The baby had no dysmorphic facial features and was diagnosed postmortem with Noonan syndrome by genomic DNA sequence analysis as he had a heterozygous mutation for G503R in the PTPN11 gene. | 0.694446819 | 2015 | PTPN11 | 12 | 112489083 | G | A,C |
| rs397507545 | NA | 5781 | PTPN11 | umls:C0028326 | CLINVAR | NA | 0.694446819 | NA | PTPN11 | 12 | 112489083 | G | A,C |
| rs397507547 | NA | 5781 | PTPN11 | umls:C0028326 | CLINVAR | NA | 0.694446819 | NA | PTPN11 | 12 | 112489086 | A | G |
| rs397507548 | 22528600 | 5781 | PTPN11 | umls:C0028326 | BeFree | We report on a 26-year-old female with features of Noonan syndrome-Multiple Lentigines and a heterozygous mutation: c.1517A > C-p.Gln506Pro in the PTPN11 gene. | 0.694446819 | 2012 | PTPN11 | 12 | 112489093 | A | C |
| rs397509345 | 22528600 | 5781 | PTPN11 | umls:C0028326 | BeFree | We report on a 26-year-old female with features of Noonan syndrome-Multiple Lentigines and a heterozygous mutation: c.1517A > C-p.Gln506Pro in the PTPN11 gene. | 0.694446819 | 2012 | NA | NA | NA | NA | NA |
| rs397516830 | NA | 5894 | RAF1 | umls:C0028326 | CLINVAR | NA | 0.383884342 | NA | RAF1 | 3 | 12604182 | A | C |
| rs397517147 | 18456719 | 6654 | SOS1 | umls:C0028326 | BeFree | The SOS1 E433K mutation, identified in a patient diagnosed with CFC, has previously been reported in patients with NS. | 0.392971407 | 2008 | SOS1 | 2 | 39023131 | C | T |
| rs397517150 | NA | 6654 | SOS1 | umls:C0028326 | CLINVAR | NA | 0.392971407 | NA | SOS1 | 2 | 39023118 | A | G,C |
| rs397517154 | NA | 6654 | SOS1 | umls:C0028326 | CLINVAR | NA | 0.392971407 | NA | SOS1 | 2 | 39022773 | C | T,G |
| rs397517159 | 24522193 | 9181 | ARHGEF2 | umls:C0028326 | BeFree | Intriguingly, CIIA failed to inhibit the Ras-specific GEF activity of Noonan-syndrome-associated SOS1 mutants (M269R, R552G, W729L and E846K). | 0.000542884 | 2014 | SOS1 | 2 | 39007168 | C | T |
| rs397517159 | 24522193 | 56731 | SLC2A4RG | umls:C0028326 | BeFree | Intriguingly, CIIA failed to inhibit the Ras-specific GEF activity of Noonan-syndrome-associated SOS1 mutants (M269R, R552G, W729L and E846K). | 0.000542884 | 2014 | SOS1 | 2 | 39007168 | C | T |
| rs397517159 | 24522193 | 6654 | SOS1 | umls:C0028326 | BeFree | Intriguingly, CIIA failed to inhibit the Ras-specific GEF activity of Noonan-syndrome-associated SOS1 mutants (M269R, R552G, W729L and E846K). | 0.392971407 | 2014 | SOS1 | 2 | 39007168 | C | T |
| rs587782971 | NA | 5894 | RAF1 | umls:C0028326 | CLINVAR | NA | 0.383884342 | NA | RAF1 | 3 | 12608895 | A | G |
| rs587782972 | NA | 5894 | RAF1 | umls:C0028326 | CLINVAR | NA | 0.383884342 | NA | RAF1 | 3 | 12591729 | C | A |
| rs727505381 | NA | 6654 | SOS1 | umls:C0028326 | CLINVAR | NA | 0.392971407 | NA | SOS1 | 2 | 39013523 | A | G |
| rs80338796 | NA | 5894 | RAF1 | umls:C0028326 | CLINVAR | NA | 0.383884342 | NA | RAF1 | 3 | 12604200 | G | C,A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:23) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008872 | Feeding difficulties in infancy | MP:0011075 | abnormal macrophage activation involved in immune response | anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response |
| HP:0000179 | Thick lower lip vermilion | MP:0005170 | cleft upper lip | defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences |
| HP:0002208 | Coarse hair | MP:0010685 | abnormal hair follicle inner root sheath morphology | any structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer a |
| HP:0001892 | Abnormal bleeding | MP:0005606 | increased bleeding time | greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function |
| HP:0011362 | Abnormal hair quantity | MP:0008861 | abnormal hair shedding | anomaly in the hair cycle changes the timing of the hair loss that normally follows the anagen phase |
| HP:0000325 | Triangular face | MP:0012546 | triangular face | a face whose lower half becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards; usually associated with a prominent forehead and micrognathia |
| HP:0000218 | High palate | MP:0011615 | submucous cleft palate | a cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate |
| HP:0001641 | Abnormality of the pulmonary valve | MP:0010465 | aberrant origin of the right subclavian artery | the right subclavian artery arises from an atypical location on the aortic arch or the proximal descending aorta |
| HP:0004209 | Clinodactyly of the 5th finger | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0001928 | Abnormality of coagulation | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0011800 | Hypoplasia of midface | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0001743 | Abnormality of the spleen | MP:0004485 | increased response of heart to induced stress | increase in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding |
| HP:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| HP:0011381 | Aplasia of the semicircular canal | MP:0009889 | persistence of medial edge epithelium during palatal shelf fusion | palatal shelves meet at the midline during development but do not adhere along the medial edge epithelia, and fail to form the midline epithelial seam |
| HP:0002750 | Delayed skeletal maturation | MP:0003379 | absent sexual maturation | failure to initiate pubertal changes that result in achievement of full sexual capacity |
| HP:0000078 | Abnormality of the genital system | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| HP:0000474 | Thickened nuchal skin fold | MP:0010678 | abnormal skin adnexa morphology | any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails |
| HP:0004415 | Pulmonary artery stenosis | MP:0012730 | abnormal internal carotid artery morphology | any structural anomaly of the terminal branch of the left or right common carotid artery which supplies oxygenated blood to the brain and eyes |
| HP:0100763 | Abnormality of the lymphatic system | MP:0004502 | decreased incidence of tumors by chemical induction | lower than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0002974 | Radioulnar synostosis | MP:0000566 | synostosis | osseous union of two bones that are not normally connected |
Mapped by homologous gene(Total Items:53) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000325 | Triangular face | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002974 | Radioulnar synostosis | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0011675 | Arrhythmia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002162 | Low posterior hairline | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000474 | Thickened nuchal skin fold | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000508 | Ptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000044 | Hypogonadotrophic hypogonadism | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000391 | Thickened helices | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0000486 | Strabismus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000476 | Cystic hygroma | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0006610 | Wide intermamillary distance | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0000995 | Melanocytic nevus | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0001004 | Lymphedema | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000347 | Micrognathia | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0100763 | Abnormality of the lymphatic system | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| HP:0007477 | Abnormal dermatoglyphics | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0000316 | Hypertelorism | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000407 | Sensorineural hearing impairment | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0011362 | Abnormal hair quantity | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000028 | Cryptorchidism | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0011381 | Aplasia of the semicircular canal | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0002208 | Coarse hair | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| HP:0001892 | Abnormal bleeding | MP:0020138 | delayed bone mineralization | late onset of the process by which minerals are deposited into bone |
| HP:0001260 | Dysarthria | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001156 | Brachydactyly syndrome | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0004415 | Pulmonary artery stenosis | MP:0013241 | embryo tissue necrosis | morphological changes resulting from pathological death of some or all embryo tissue; usually due to irreversible damage |
| HP:0000768 | Pectus carinatum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000767 | Pectus excavatum | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000348 | High forehead | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001743 | Abnormality of the spleen | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0000520 | Proptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000078 | Abnormality of the genital system | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008872 | Feeding difficulties in infancy | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0100625 | Enlarged thorax | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000218 | High palate | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000639 | Nystagmus | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000494 | Downslanted palpebral fissures | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002167 | Neurological speech impairment | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000179 | Thick lower lip vermilion | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000368 | Low-set, posteriorly rotated ears | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0004209 | Clinodactyly of the 5th finger | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0002750 | Delayed skeletal maturation | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0011800 | Hypoplasia of midface | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0005692 | Joint hyperflexibility | MP:0012125 | decreased bronchoconstrictive response | reduction in the expected bronchoconstrictive response to provocation challenge with lipopolysaccharide, bradykinin, histamine or other antigen/allergen or agent, often measured by plethysmography |
| HP:0001641 | Abnormality of the pulmonary valve | MP:0013696 | increased granulocyte monocyte progenitor cell number | increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1 |
| HP:0000465 | Webbed neck | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0001928 | Abnormality of coagulation | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| Disease ID | 143 |
|---|---|
| Disease | noonan syndrome |
| Case | (Waiting for update.) |