Oculodentodigital Dysplasia malady
Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases, Oral diseases categories
Aliases & Descriptions for Oculodentodigital Dysplasia:
MalaCards categories: See all MalaCards categories (disease lists)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Eye diseases, Bone diseases, Skin diseases, Oral diseases
Rare eye diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases
Characteristics (Orphanet epidemiological data):48
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal
OMIM:46 Oculodentodigital syndrome is characterized by a typical facial appearance and variable involvement of the eyes,... (164200) more...
MalaCards based summary: Oculodentodigital Dysplasia, also known as oculodentoosseous dysplasia, is related to syndactyly and oculodentodigital dysplasia, autosomal recessive, and has symptoms including cleft palate, underdeveloped nasal alae and narrow nasal bridge. An important gene associated with Oculodentodigital Dysplasia is GJA1 (gap junction protein, alpha 1, 43kDa). The compounds halothane and doxycycline have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and bone.
NIH Rare Diseases:42 Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). the condition is caused by mutations in the gja1 gene. most cases are inherited in an autosomal dominant pattern. some cases are caused by a new mutation in the gene. a small number of cases follow an autosomal recessive pattern of inheritance. management is multidisciplinary and based on specific symptoms. early diagnosis is critical for prevention and treatment. last updated: 1/26/2011
Genetics Home Reference:21 Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). Common features in people with this condition are small eyes (microphthalmia) and other eye abnormalities that can lead to vision loss. Affected individuals also frequently have tooth abnormalities, such as small or missing teeth, weak enamel, multiple cavities, and early tooth loss. Other common features of this condition include a thin nose and webbing of the skin (syndactyly) between the fourth and fifth fingers.
Wikipedia:64 Oculodentodigital syndrome (ODD syndrome) is an extremely rare genetic condition that typically results... more...
Symptoms by clinical synopsis from OMIM:164200
Clinical features from OMIM:164200
Symptoms:48 (show all 86)
HPO human phenotypes related to Oculodentodigital Dysplasia:(show all 121)
MalaCards organs/tissues related to Oculodentodigital Dysplasia:31
Eye, Skin, Bone, Cerebellum, Heart, Kidney
Articles related to Oculodentodigital Dysplasia:(show top 50) (show all 81)
UniProtKB/Swiss-Prot genetic disease variations for Oculodentodigital Dysplasia:63 (show all 42)
Clinvar genetic disease variations for Oculodentodigital Dysplasia:5 (show all 16)
Search GEO for disease gene expression data for Oculodentodigital Dysplasia.
Compounds related to Oculodentodigital Dysplasia according to GeneCards Suite gene sharing:
26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet