Campomelic Dysplasia malady
Categories: Genetic diseases, Rare diseases, Cancer diseases, Reproductive diseases, Bone diseases, Endocrine diseases, Fetal diseases, Immune diseases, Blood diseases, Cardiovascular diseases
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Aliases & Descriptions for Campomelic Dysplasia:
Orphanet epidemiological data:53
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal
Inheritance: autosomal dominant inheritance
Penetrance: sox9 coding region mutations are completely penetrant...
Global: Genetic diseases, Rare diseases, Cancer diseases, Fetal diseases
Anatomical: Reproductive diseases, Bone diseases, Endocrine diseases, Immune diseases, Blood diseases, Cardiovascular diseases
ICD10: 30 29
Rare gynaecological and obstetric diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
NIH Rare Diseases:47 Campomelic dysplasia is a severe disorder that affects the development of the skeleton and reproductive system. This condition is often life-threatening in the newborn period. Affected individuals are typically born with bowing of the long bones in the legs and may also have bowing in the arms; short legs; dislocated hips; underdeveloped shoulder blades; bone abnormalities in the neck; feet that are abnormally rotated (club feet); external genitalia that do not look clearly male or clearly female (ambiguous genitalia); distinctive facial features (including a small chin, prominent eyes, flat face, a large head compared to their body size); a particular group of physical features, called Pierre-Robin sequence; and other abnormalities. It is caused by mutations in the SOX9 gene and is inherited in an autosomal dominant pattern, although most cases result from a new mutation in the affected individual. Treatment typically includes multiple surgeries to correct some of the above-mentioned abnormalities. When affected individuals have features of this disorder but do not have bowed limbs, they are said to have acampomelic campomelic dysplasia. Last updated: 12/29/2010
MalaCards based summary: Campomelic Dysplasia, also known as acampomelic campomelic dysplasia, is related to myelofibrosis with myeloid metaplasia, somatic and myelodysplastic syndrome, and has symptoms including cleft palate, macrocephaly and malar flattening. An important gene associated with Campomelic Dysplasia is SOX9 (SRY-Box 9), and among its related pathways are Osteoblast Signaling and Cytoskeleton remodeling_Role of PDGFs in cell migration. The drug sodium phenylbutyrate has been mentioned in the context of this disorder. Affiliated tissues include tibia or, myeloid and bone, and related mouse phenotypes are embryo and normal.
Disease Ontology:11 An osteochondrodysplasia that has material basis in a mutation in chromosome 17 which results in bowing in the located in tibia or located in femur.
UniProtKB/Swiss-Prot:69 Campomelic dysplasia: A rare, often lethal, osteochondrodysplasia characterized by congenital bowing and angulation of long bones. Other skeletal defects include unusually small scapula, deformed pelvis and spine, and a missing pair of ribs. Craniofacial and ear defects are common. Most patients die soon after birth due to respiratory distress which has been attributed to hypoplasia of the tracheobronchial cartilage and small thoracic cage. Up to two-thirds of affected XY individuals have genital defects or may develop as phenotypic females.
Genetics Home Reference:25 Campomelic dysplasia is a severe disorder that affects development of the skeleton, reproductive system, and other parts of the body. This condition is often life-threatening in the newborn period.
OMIM:51 Campomelic dysplasia is a disorder of the newborn characterized by congenital bowing and angulation of long bones,... (114290) more...
Wikipedia:70 Campomelic dysplasia (CMD) is a rare genetic disorder characterized by bowing of the long bones and many... more...
GeneReviews for NBK1760
Human phenotypes related to Campomelic Dysplasia:63 53 (show all 77)
UMLS symptoms related to Campomelic Dysplasia:mass of lymphoreticular structure, respiratory distress
Drugs for Campomelic Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 534)
Interventional clinical trials:(show top 50) (show all 1423)
Search NIH Clinical Center for Campomelic Dysplasia
Inferred drug relations via UMLS67/NDF-RT45:
MalaCards organs/tissues related to Campomelic Dysplasia:35
Myeloid, Bone, Bone marrow, T cells, Kidney, Eye, Nk cells
FMA organs/tissues related to Campomelic Dysplasia:17
MGI Mouse Phenotypes related to Campomelic Dysplasia:40
Articles related to Campomelic Dysplasia:(show top 50) (show all 114)
UniProtKB/Swiss-Prot genetic disease variations for Campomelic Dysplasia:69 (show all 16)
Clinvar genetic disease variations for Campomelic Dysplasia:5
Copy number variations for Campomelic Dysplasia from CNVD:6 (show all 39)
Search GEO for disease gene expression data for Campomelic Dysplasia.
Pathways related to Campomelic Dysplasia according to GeneCards Suite gene sharing:(show all 19)
Cellular components related to Campomelic Dysplasia according to GeneCards Suite gene sharing:
Biological processes related to Campomelic Dysplasia according to GeneCards Suite gene sharing:(show all 25)
Molecular functions related to Campomelic Dysplasia according to GeneCards Suite gene sharing:(show all 10)
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet