eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| campomelic dysplasia | ||||
| Disease ID | 211 |
|---|---|
| Disease | campomelic dysplasia |
| Definition | A congenital disorder of CHONDROGENESIS and OSTEOGENESIS characterized by hypoplasia of endochondral bones. In most cases there is a curvature of the long bones especially the TIBIA with dimpling of the skin over the bowed areas, malformation of the pelvis and spine, 11 pairs of ribs, hypoplastic scapulae, club feet, micrognathia, CLEFT PALATE, tracheobronchomalacia, and in some patients male-to-female sex reversal (SEX REVERSAL, GONADAL). Most patients die in the neonatal period of respiratory distress. Campomelic dysplasia is associated with haploinsufficiency of the SOX9 TRANSCRIPTION FACTOR gene. |
| Synonym | campomelic dwarfism campomelic dwarfisms campomelic dysplasia [disease/finding] campomelic dysplasias campomelic syndrome campomelic syndromes camptomelic dysplasia camptomelic dysplasia (disorder) camptomelic dysplasias cmd1 cmpd1 sra1 cmpd1 sra1s cmpd1/sra1 dwarfism, campomelic dwarfisms, campomelic dysplasia, campomelic dysplasia, camptomelic dysplasias, campomelic dysplasias, camptomelic sra1, cmpd1 sra1s, cmpd1 syndrome, campomelic syndromes, campomelic |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1861922 |
| MeSH | |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:35) 5826 | ABCD4 | 2.554 | DISEASES 176 | ACAN | 2.145 | DISEASES 249 | ALPL | 1.455 | DISEASES 801 | CALM1 | 1.313 | DISEASES 916 | CD3E | 2.16 | DISEASES 1302 | COL11A2 | 3.894 | DISEASES 1280 | COL2A1 | 4.541 | DISEASES 1297 | COL9A1 | 2.327 | DISEASES 1298 | COL9A2 | 2.263 | DISEASES 1299 | COL9A3 | 2.473 | DISEASES 594855 | CPLX3 | 1.773 | DISEASES 1859 | DYRK1A | 1.353 | DISEASES 668 | FOXL2 | 1.27 | DISEASES 2626 | GATA4 | 2.518 | DISEASES 57000 | GSN-AS1 | 2.537 | DISEASES 60495 | HPSE2 | 1.7 | DISEASES 219844 | HYLS1 | 1.81 | DISEASES 5608 | MAP2K6 | 2.098 | DISEASES 4146 | MATN1 | 2.105 | DISEASES 9968 | MED12 | 2.539 | DISEASES 1482 | NKX2-5 | 1.155 | DISEASES 190 | NR0B1 | 2.656 | DISEASES 2516 | NR5A1 | 1.643 | DISEASES 26227 | PHGDH | 1.299 | DISEASES 5573 | PRKAR1A | 1.328 | DISEASES 860 | RUNX2 | 2.017 | DISEASES 6622 | SNCA | 1.85 | DISEASES 6663 | SOX10 | 2.669 | DISEASES 6660 | SOX5 | 3.676 | DISEASES 55553 | SOX6 | 3.608 | DISEASES 6708 | SPTA1 | 1.338 | DISEASES 6736 | SRY | 5.576 | DISEASES 9096 | TBX18 | 3.001 | DISEASES 7490 | WT1 | 1.507 | DISEASES 11060 | WWP2 | 3.533 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) SOX9 | 17q24.3 |
| Disease ID | 211 |
|---|---|
| Disease | campomelic dysplasia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:38) HP:0000470 | Short neck HP:0000037 | Male pseudohermaphroditism HP:0000520 | Proptosis HP:0006487 | Bowing of the long bones HP:0001601 | Laryngomalacia HP:0004322 | Short stature HP:0008821 | Hypoplastic inferior ilia HP:0000878 | 11 pairs of ribs HP:0000365 | Hearing impairment HP:0002119 | Ventriculomegaly HP:0002786 | Tracheobronchomalacia HP:0010781 | Skin dimples HP:0005280 | Depressed nasal bridge HP:0002982 | Tibial bowing HP:0006584 | Small abnormally formed scapulae HP:0000347 | Micrognathia HP:0012368 | Flat face HP:0000126 | Hydronephrosis HP:0000369 | Low-set ears HP:0002564 | Malformation of the heart and great vessels HP:0001762 | Talipes equinovarus HP:0007036 | Hypoplasia of olfactory tract HP:0000316 | Hypertelorism HP:0000774 | Narrow chest HP:0000062 | Ambiguous genitalia HP:0004408 | Abnormality of the sense of smell HP:0002779 | Tracheomalacia HP:0000175 | Cleft palate HP:0002093 | Respiratory insufficiency HP:0000256 | Macrocephaly HP:0002650 | Scoliosis HP:0002757 | Recurrent fractures HP:0002808 | Kyphosis HP:0008477 | Poorly ossified cervical vertebrae HP:0002980 | Femoral bowing HP:0002827 | Hip dislocation HP:0003038 | Fibular hypoplasia HP:0003026 | Short long bone |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:3) |
| Disease ID | 211 |
|---|---|
| Disease | campomelic dysplasia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:3) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:2) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| SOX9 | Het del whole gene | doi:10.1038/gim.2011.65 | Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders |
| SOX9 | - | doi:10.1038/gim.2015.51 | Clinical performance of the CytoScan Dx Assay in diagnosing developmental delay/intellectual disability |
Text Mining Genotype(Total 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 |
| rs137853129 | NA | 6662 | SOX9 | umls:C1861922 | CLINVAR | NA | 0.578467979 | NA | SOX9;SOX9-AS1 | 17 | 72122749 | C | G |
| rs1800562 | 19258483 | 3077 | HFE | umls:C1861922 | BeFree | We found that HFE C282Y might be associated with a protective role against CMPD. | 0.000271442 | 2009 | HFE | 6 | 26092913 | G | A |
| rs28940282 | 11754051 | 6662 | SOX9 | umls:C1861922 | UNIPROT | Acampomelic campomelic syndrome. | 0.578467979 | 2001 | SOX9;SOX9-AS1 | 17 | 72122780 | C | T |
| rs386626619 | 17643100 | 3717 | JAK2 | umls:C1861922 | BeFree | The V617F mutation in the Janus Kinase 2 gene (JAK2(V617F)) was recently shown to be frequently and preferentially present in the peripheral blood and bone marrow cells of CMPD patients, and the resulting dysregulation of its downstream targets is important to CMPD pathogenesis. | 0.002442977 | 2007 | NA | NA | NA | NA | NA |
| rs386626619 | 19167611 | 3717 | JAK2 | umls:C1861922 | BeFree | The acquired Janus kinase 2 (JAK2) V617F mutation shows a high frequency in diverse BCR/ABL-negative chronic myeloproliferative disorders (CMPD), and it is typically associated with polycythemia vera (PV). | 0.002442977 | 2009 | NA | NA | NA | NA | NA |
| rs386626619 | 17133457 | 3717 | JAK2 | umls:C1861922 | BeFree | JAK2 V617F is a very reliable and noninvasive molecular marker for CMPD and should be used as a first test for diagnosis. | 0.002442977 | 2006 | NA | NA | NA | NA | NA |
| rs386626619 | 20966521 | 3717 | JAK2 | umls:C1861922 | BeFree | The JAK2 V617F mutation was detected in 86 per cent of patients with CMPD disorders. | 0.002442977 | 2010 | NA | NA | NA | NA | NA |
| rs386626619 | 19258483 | 3717 | JAK2 | umls:C1861922 | BeFree | The frequency of JAK2 V617F was 75.9% (249 of 328) in the CMPD group. | 0.002442977 | 2009 | NA | NA | NA | NA | NA |
| rs587776541 | NA | 6662 | SOX9 | umls:C1861922 | CLINVAR | NA | 0.578467979 | NA | SOX9 | 17 | 72123593 | - | C |
| rs77375493 | 19258483 | 3717 | JAK2 | umls:C1861922 | BeFree | The frequency of JAK2 V617F was 75.9% (249 of 328) in the CMPD group. | 0.002442977 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17643100 | 3717 | JAK2 | umls:C1861922 | BeFree | The V617F mutation in the Janus Kinase 2 gene (JAK2(V617F)) was recently shown to be frequently and preferentially present in the peripheral blood and bone marrow cells of CMPD patients, and the resulting dysregulation of its downstream targets is important to CMPD pathogenesis. | 0.002442977 | 2007 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 17133457 | 3717 | JAK2 | umls:C1861922 | BeFree | JAK2 V617F is a very reliable and noninvasive molecular marker for CMPD and should be used as a first test for diagnosis. | 0.002442977 | 2006 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 20966521 | 3717 | JAK2 | umls:C1861922 | BeFree | The JAK2 V617F mutation was detected in 86 per cent of patients with CMPD disorders. | 0.002442977 | 2010 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs77375493 | 19167611 | 3717 | JAK2 | umls:C1861922 | BeFree | The acquired Janus kinase 2 (JAK2) V617F mutation shows a high frequency in diverse BCR/ABL-negative chronic myeloproliferative disorders (CMPD), and it is typically associated with polycythemia vera (PV). | 0.002442977 | 2009 | JAK2;INSL6 | 9 | 5073770 | G | A,T |
| rs80338688 | NA | 6662 | SOX9 | umls:C1861922 | CLINVAR | NA | 0.578467979 | NA | SOX9 | 17 | 72124177 | C | A,G,T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:12) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0012368 | Flat face | MP:0012175 | flat face | the appearance of a flattened surface outline or contour of a normally rounded face of an organism |
| HP:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| HP:0006487 | Bowing of the long bones | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0000062 | Ambiguous genitalia | MP:0009202 | small external male genitalia | reduced size of the external masculine genital organs |
| HP:0003038 | Fibular hypoplasia | MP:0010881 | esophagus hypoplasia | underdevelopment or decreased size of the esophagus, usually due a reduced number of cells |
| HP:0000470 | Short neck | MP:0012720 | elongated neck | increased length of the neck |
| HP:0000878 | 11 pairs of ribs | MP:0010178 | increased number of Howell-Jolly bodies | abnormal presence of basophilic nuclear remnants of condensed DNA (1 to 2 um in diameter) in circulating erythrocytes, typically seen in severe hemolytic anemias or after splenectomy; these inclusions are normally removed by the spleen but will persist in |
| HP:0000774 | Narrow chest | MP:0004134 | abnormal chest morphology | any structural anomaly of the part of the body between the neck and the abdomen |
| HP:0005280 | Depressed nasal bridge | MP:0013582 | abnormal lateral nasal gland morphology | any structural anomaly of the lateral nasal glands (the largest nasal secretory glands in rodents) which surround the maxillary sinus located in the lateral wall adjacent to each nasal passage and are characterized by cytologic features similar to those d |
| HP:0003026 | Short long bone | MP:0013618 | decreased areal bone mineral density | reduction of the mineral mass per unit area of bone, the hard, rigid form of connective tissue constituting most of the skeleton of vertebrates and composed chiefly of calcium salts; expressed as the amount of mineral per area cm^2 of bone (usually in g/c |
| HP:0002757 | Recurrent fractures | MP:0004675 | rib fractures | a crack or break in the bones forming the bony wall of the chest |
| HP:0004408 | Abnormality of the sense of smell | 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 |
Mapped by homologous gene(Total Items:36) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0006584 | Small abnormally formed scapulae | 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:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000774 | Narrow chest | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002119 | Ventriculomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| 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:0002980 | Femoral bowing | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0000062 | Ambiguous genitalia | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| 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:0003026 | Short long bone | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001601 | Laryngomalacia | MP:0014152 | absent exorbital lacrimal gland | absence of the large extra-orbital lacrimal gland that, in mice, is normally located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland |
| HP:0000126 | Hydronephrosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002827 | Hip dislocation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008821 | Hypoplastic inferior ilia | MP:0011094 | embryonic lethality before implantation, complete penetrance | death of all organisms of a given genotype in a population between fertilization and implantation (Mus: E0 to less than E4.5) |
| HP:0005280 | Depressed nasal bridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004408 | Abnormality of the sense of smell | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006487 | Bowing of the long bones | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002757 | Recurrent fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0008477 | Poorly ossified cervical vertebrae | MP:0013292 | embryonic lethality prior to organogenesis | death prior to the completion of embryo turning (Mus: E9-9.5) |
| HP:0010781 | Skin dimples | MP:0011100 | preweaning lethality, complete penetrance | death of all organisms of a given genotype in a population between fertilization and weaning age (Mus: approximately 3-4 weeks of age) |
| 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:0000470 | Short neck | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002779 | Tracheomalacia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000175 | Cleft palate | 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:0000878 | 11 pairs of ribs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0012368 | Flat face | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002786 | Tracheobronchomalacia | MP:0013292 | embryonic lethality prior to organogenesis | death prior to the completion of embryo turning (Mus: E9-9.5) |
| HP:0001762 | Talipes equinovarus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000369 | Low-set ears | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002982 | Tibial bowing | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003038 | Fibular hypoplasia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002808 | Kyphosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000037 | Male pseudohermaphroditism | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| Disease ID | 211 |
|---|---|
| Disease | campomelic dysplasia |
| Case | (Waiting for update.) |