Campomelic Dysplasia malady
Categories: Genetic diseases, Rare diseases, Reproductive diseases, Bone diseases, Endocrine diseases, Fetal diseases, Cardiovascular diseases
50OMIM, 11Disease Ontology, 69Wikipedia, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Campomelic Dysplasia:
Orphanet epidemiological data:52
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Antenatal,Neonatal
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Reproductive diseases, Bone diseases, Endocrine diseases, Cardiovascular diseases
Rare gynaecological and obstetric diseases
Rare bone diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
NIH Rare Diseases:46 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 pierre robin sequence with pectus excavatum and rib and scapular anomalies and chronic myeloproliferative disease, 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 Deactivation of the beta-catenin transactivating complex and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include tibia or, bone and eye, and related mouse phenotypes are limbs/digits/tail and respiratory system.
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.
Genetics Home Reference:24 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:50 Campomelic dysplasia is a disorder of the newborn characterized by congenital bowing and angulation of long bones,... (114290) more...
UniProtKB/Swiss-Prot:68 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.
Wikipedia:69 Campomelic dysplasia (CMD) is a rare genetic disorder characterized by bowing of the long bones and many... more...
GeneReviews summary for NBK1760
Symptoms by clinical synopsis from OMIM:114290
Clinical features from OMIM:114290
Symptoms:52 (show all 38)
HPO human phenotypes related to Campomelic Dysplasia:(show all 75)
UMLS symptoms related to Campomelic Dysplasia:mass of lymphoreticular structure, respiratory distress
MalaCards organs/tissues related to Campomelic Dysplasia:34
Bone, Eye, Skin, Heart, Testis, Pancreas
FMA organs/tissues related to Campomelic Dysplasia:17
MGI Mouse Phenotypes related to Campomelic Dysplasia:39
Articles related to Campomelic Dysplasia:(show top 50) (show all 113)
UniProtKB/Swiss-Prot genetic disease variations for Campomelic Dysplasia:68 (show all 16)
Clinvar genetic disease variations for Campomelic Dysplasia:5
Search GEO for disease gene expression data for Campomelic Dysplasia.
Pathways related to Campomelic Dysplasia according to GeneCards Suite gene sharing:
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 44)
Molecular functions related to Campomelic Dysplasia according to GeneCards Suite gene sharing:(show all 9)
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet