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:53
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:47 Chondrodysplasia punctata 1, X-linked recessive (CDPX1) is a genetic disorder present from birth that affects bone and cartilage development. On x-ray, infants with CDPX1 have characteristic spots at the ends of their bones. These spots are called chondrodysplasia punctata or stippled epiphyses and typically disappear between ages 2 and 3. Additional common features of CDPX1 are shortened fingers and a flattened nose. Some people with this condition have breathing abnormalities, hearing loss, abnormalities of the spinal bones in the neck, and intellectual delays. CDPX1 is caused by mutations 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. Although there is no specific treatment or cure for CDPX1, there are ways to manage symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person. Last updated: 8/10/2016
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 cervicitis, and has symptoms including hypogonadism, microcephaly and hearing impairment. An important gene associated with Chondrodysplasia Punctata, X-Linked Recessive is ARSE (Arylsulfatase E (Chondrodysplasia Punctata 1)). Affiliated tissues include bone and skin.
UniProtKB/Swiss-Prot:69 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:70 X-linked recessive chondrodysplasia punctata is a type of chondrodysplasia punctata that can involve the... more...
Description from OMIM:51 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:
Human phenotypes related to Chondrodysplasia Punctata, X-Linked Recessive:63 (show all 14)
MalaCards organs/tissues related to Chondrodysplasia Punctata, X-Linked Recessive:35
Search GEO for disease gene expression data for Chondrodysplasia Punctata, X-Linked Recessive.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet