Chondrodysplasia Punctata, X-Linked Recessive malady
Categories: Genetic diseases, Rare diseases, Bone diseases, Metabolic diseases, Fetal diseases, Eye diseases, Skin diseases
Aliases & Descriptions for Chondrodysplasia Punctata, X-Linked Recessive:
Orphanet epidemiological data:51
brachytelephalangic chondrodysplasia punctata:
Inheritance: X-linked recessive
chondrodysplasia punctata, x-linked recessive:
Inheritance: x-linked recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases
Anatomical: Bone diseases, Eye diseases, Skin diseases
Rare bone diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
NIH Rare Diseases:45 Chondrodysplasia punctata 1, x-linked recessive (cdpx1) is a genetic disorder present from birth that affects bone and cartilage development. on x-ray, affected infants have characteristic spots at the ends of their bones. these spots are called chondrodysplasia punctata or stippled epiphyses and typically disappear between age 2 and 3. additional common features of cdpx1 are shortened fingers and a flat nose. some people with this condition have breathing abnormalities, hearing loss, abnormalities of the spinal bones in the neck, and delayed intellectual development. cdpx1 is caused by changes in the arse gene, which is located on the x chromosome. this condition is inherited in an x-linked recessive manner and occurs almost exclusively in males. most affected individuals have a normal lifespan, although some individuals experience complications that can be life-threatening. last updated: 4/22/2009
MalaCards based summary: Chondrodysplasia Punctata, X-Linked Recessive, also known as chondrodysplasia punctata 1, x-linked recessive, is related to chondrodysplasia punctata 1, x-linked and chondrodysplasia punctata, and has symptoms including epiphyseal stippling, short distal phalanx of finger and ichthyosis. An important gene associated with Chondrodysplasia Punctata, X-Linked Recessive is ARSE (Arylsulfatase E (Chondrodysplasia Punctata 1)). Affiliated tissues include bone, skin and eye.
UniProtKB/Swiss-Prot:67 Chondrodysplasia punctata 1, X-linked recessive: A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. CDPX1 is a congenital defect of bone and cartilage development characterized by aberrant bone mineralization, severe underdevelopment of nasal cartilage, and distal phalangeal hypoplasia. This disease can also be induced by inhibition with the drug warfarin.
Wikipedia:68 X-linked recessive chondrodysplasia punctata is a type of chondrodysplasia punctata that can involve the... more...
Description from OMIM:49 302950
Diseases in the X-Linked Chondrodysplasia Punctata family:
Diseases related to Chondrodysplasia Punctata, X-Linked Recessive via text searches within MalaCards or GeneCards Suite gene sharing:
HPO human phenotypes related to Chondrodysplasia Punctata, X-Linked Recessive:(show all 14)
MalaCards organs/tissues related to Chondrodysplasia Punctata, X-Linked Recessive:33
Bone, Skin, Eye, Endothelial
UniProtKB/Swiss-Prot genetic disease variations for Chondrodysplasia Punctata, X-Linked Recessive:67
Clinvar genetic disease variations for Chondrodysplasia Punctata, X-Linked Recessive:5 (show all 12)
Search GEO for disease gene expression data for Chondrodysplasia Punctata, X-Linked Recessive.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet