PedAM

Pediatric Disease Annotations & Medicines


	costello syndrome

Disease ID	198
Disease	costello syndrome
Definition	Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).
Synonym	costello syndrome (disorder) costello syndrome [disease/finding] cstlo faciocutaneoskeletal syndrome faciocutaneoskeletal syndromes fcs syndrome fcs syndromes syndrome, costello syndrome, faciocutaneoskeletal syndrome, fcs syndromes, faciocutaneoskeletal syndromes, fcs
Orphanet	ORPHANET:3071
OMIM	OMIM:218040
DOID	DOID:0050469
UMLS	C0587248
MeSH	D056685
SNOMED-CT	SNOMEDCT_US_2016_09_01:309776008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:5) C0175704 \| leopard syndrome \| 1 C0010495 \| cutis laxa \| 1 C0013421 \| dystonia \| 1 C0020676 \| hypothyroidism \| 1 C0022578 \| keratoconus \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:7) PTPN11 \| 5781 \| CTD_human HRAS \| 3265 \| CTD_human;GHR;ORPHANET;UNIPROT BRAF \| 673 \| CTD_human KRAS \| 3845 \| CTD_human TNNT2 \| 7139 \| CLINVAR MAP2K1 \| 5604 \| CTD_human MAP2K2 \| 5605 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:60) 5010 \| CLDN11 \| DISEASES 8216 \| LZTR1 \| DISEASES 5816 \| PVALB \| DISEASES 6655 \| SOS2 \| DISEASES 10005 \| ACOT8 \| DISEASES 54602 \| NDFIP2 \| DISEASES 4488 \| MSX2 \| DISEASES 5911 \| RAP2A \| DISEASES 7389 \| UROD \| DISEASES 6237 \| RRAS \| DISEASES 2006 \| ELN \| DISEASES 3866 \| KRT15 \| DISEASES 3845 \| KRAS \| DISEASES 4173 \| MCM4 \| DISEASES 5605 \| MAP2K2 \| DISEASES 5290 \| PIK3CA \| DISEASES 118 \| ADD1 \| DISEASES 1462 \| VCAN \| DISEASES 64062 \| RBM26 \| DISEASES 207 \| AKT1 \| DISEASES 10733 \| PLK4 \| DISEASES 5921 \| RASA1 \| DISEASES 4103 \| MAGEA4 \| DISEASES 5922 \| RASA2 \| DISEASES 178 \| AGL \| DISEASES 161742 \| SPRED1 \| DISEASES 144568 \| A2ML1 \| DISEASES 5604 \| MAP2K1 \| DISEASES 50515 \| CHST11 \| DISEASES 121391 \| KRT74 \| DISEASES 3265 \| HRAS \| DISEASES 633 \| BGN \| DISEASES 3266 \| ERAS \| DISEASES 2261 \| FGFR3 \| DISEASES 5781 \| PTPN11 \| DISEASES 10252 \| SPRY1 \| DISEASES 10516 \| FBLN5 \| DISEASES 3767 \| KCNJ11 \| DISEASES 5154 \| PDGFA \| DISEASES 4763 \| NF1 \| DISEASES 6427 \| SRSF2 \| DISEASES 8036 \| SHOC2 \| DISEASES 5900 \| RALGDS \| DISEASES 1759 \| DNM1 \| DISEASES 4237 \| MFAP2 \| DISEASES 10253 \| SPRY2 \| DISEASES 3980 \| LIG3 \| DISEASES 6833 \| ABCC8 \| DISEASES 80310 \| PDGFD \| DISEASES 5609 \| MAP2K7 \| DISEASES 23426 \| GRIP1 \| DISEASES 6654 \| SOS1 \| DISEASES 3481 \| IGF2 \| DISEASES 55636 \| CHD7 \| DISEASES 5923 \| RASGRF1 \| DISEASES 54900 \| LAX1 \| DISEASES 1028 \| CDKN1C \| DISEASES 4043 \| LRPAP1 \| DISEASES 56034 \| PDGFC \| DISEASES 3347 \| HTN3 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) HRAS \| 11p15.5

Disease ID	198
Disease	costello syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:48) HP:0000293 \| Full cheeks HP:0100729 \| Large face HP:0000158 \| Macroglossia HP:0000470 \| Short neck HP:0000189 \| Narrow palate HP:0000951 \| Abnormality of the skin HP:0001231 \| Abnormality of the fingernails HP:0007477 \| Abnormal dermatoglyphics HP:0000164 \| Abnormality of the teeth HP:0002033 \| Poor suck HP:0001629 \| Ventricular septal defect HP:0004690 \| Thickened Achilles tendon HP:0000286 \| Epicanthus HP:0005692 \| Joint hyperflexibility HP:0004322 \| Short stature HP:0001595 \| Abnormality of the hair HP:0000563 \| Keratoconus HP:0000474 \| Thickened nuchal skin fold HP:0000486 \| Strabismus HP:0009748 \| Large earlobe HP:0000682 \| Abnormality of dental enamel HP:0000280 \| Coarse facial features HP:0000962 \| Hyperkeratosis HP:0000956 \| Acanthosis nigricans HP:0001814 \| Deep-set nails HP:0001582 \| Redundant skin HP:0001639 \| Hypertrophic cardiomyopathy HP:0005280 \| Depressed nasal bridge HP:0000256 \| Macrocephaly HP:0000028 \| Cryptorchidism HP:0001531 \| Failure to thrive in infancy HP:0001642 \| Pulmonic stenosis HP:0012740 \| Papilloma HP:0000368 \| Low-set, posteriorly rotated ears HP:0000179 \| Thick lower lip vermilion HP:0001800 \| Hypoplastic toenails HP:0002224 \| Woolly hair HP:0008872 \| Feeding difficulties in infancy HP:0001249 \| Intellectual disability HP:0002120 \| Cerebral cortical atrophy HP:0002750 \| Delayed skeletal maturation HP:0009465 \| Ulnar deviation of finger HP:0002020 \| Gastroesophageal reflux HP:0001561 \| Polyhydramnios HP:0001598 \| Concave nail HP:0001634 \| Mitral valve prolapse HP:0100679 \| Lack of skin elasticity HP:0007440 \| Generalized hyperpigmentation
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:7) HP:0001332 \| Dystonia \| 1 HP:0006482 \| Dental malformations \| 1 HP:0000973 \| Dermatomegaly \| 1 HP:0000028 \| Cryptorchidism \| 1 HP:0000563 \| Conical cornea \| 1 HP:0100543 \| Cognitive deficits \| 1 HP:0000821 \| Underactive thyroid \| 1

Disease ID	198
Disease	costello syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:13) C1709353 \| osteofibrous dysplasia C0700208 \| scoliosis C0699885 \| bladder carcinoma C0520679 \| obstructive sleep apnea C0340425 \| hypertrophic cardiomyopathy C0281788 \| biventricular hypertrophy C0271561 \| growth hormone deficiency C0235896 \| pulmonary infiltrates C0035412 \| rhabdomyosarcoma C0030508 \| parasomnia C0030354 \| papillomas C0020459 \| hyperinsulinism C0018799 \| cardiac disease
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:15)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894227	23335589	92170	MTG1	umls:C0587248	BeFree	Functional analyses of rarer HRAS mutations identified in individuals with attenuated Costello syndrome phenotypes revealed altered GDP/GTP nucleotide affinities (p.K117R) and inefficient effector binding (p.E37dup).	0.000814326	2013	HRAS;LRRC56	11	533553	T	C
rs104894227	17979197	3265	HRAS	umls:C0587248	BeFree	Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation.	0.454657861	2008	HRAS;LRRC56	11	533553	T	C
rs104894228	19213030	3265	HRAS	umls:C0587248	BeFree	A premature infant with Costello syndrome due to a rare G13C HRAS mutation.	0.454657861	2009	HRAS;LRRC56	11	534286	C	T,G,A
rs104894228	21438134	3265	HRAS	umls:C0587248	BeFree	Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.	0.454657861	2011	HRAS;LRRC56	11	534286	C	T,G,A
rs104894229	17324647	3265	HRAS	umls:C0587248	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).	0.454657861	2007	HRAS;LRRC56	11	534289	C	T,G,A
rs104894229	16881968	3265	HRAS	umls:C0587248	BeFree	Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.	0.454657861	2006	HRAS;LRRC56	11	534289	C	T,G,A
rs104894229	17324647	3845	KRAS	umls:C0587248	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).	0.122171535	2007	HRAS;LRRC56	11	534289	C	T,G,A
rs104894229	20979192	3265	HRAS	umls:C0587248	BeFree	Costello syndrome with severe cutis laxa and mosaic HRAS G12S mutation.	0.454657861	2010	HRAS;LRRC56	11	534289	C	T,G,A
rs104894229	19206176	3265	HRAS	umls:C0587248	BeFree	Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.	0.454657861	2009	HRAS;LRRC56	11	534289	C	T,G,A
rs104894229	21834037	3265	HRAS	umls:C0587248	BeFree	Molecular confirmation of HRAS p.G12S in siblings with Costello syndrome.	0.454657861	2011	HRAS;LRRC56	11	534289	C	T,G,A
rs104894229	22926243	3265	HRAS	umls:C0587248	BeFree	Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.	0.454657861	2012	HRAS;LRRC56	11	534289	C	T,G,A
rs104894230	22926243	3265	HRAS	umls:C0587248	BeFree	Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.	0.454657861	2012	HRAS;LRRC56	11	534288	C	T,G,A
rs121913530	17324647	3845	KRAS	umls:C0587248	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).	0.122171535	2007	KRAS	12	25245351	C	T,G,A
rs121913530	17324647	3265	HRAS	umls:C0587248	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).	0.454657861	2007	KRAS	12	25245351	C	T,G,A
rs121964857	NA	7139	TNNT2	umls:C0587248	CLINVAR	NA	0.12	NA	TNNT2	1	201359245	G	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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