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):51
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal
OMIM:49 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 odd syndrome, is related to oculodentodigital dysplasia, autosomal recessive and syndactyly, type iii, 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), and among its related pathways are Antiarrhythmic Pathway, Pharmacodynamics and Oligomerization of connexins into connexons. Affiliated tissues include eye, skin and bone.
Genetics Home Reference:23 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.
NIH Rare Diseases:45 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
UniProtKB/Swiss-Prot:67 Oculodentodigital dysplasia: A disease characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding. Cardiac abnormalities are observed in rare instances.
Wikipedia:68 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:51 (show all 86)
HPO human phenotypes related to Oculodentodigital Dysplasia:(show all 121)
Drugs for Oculodentodigital Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 7)
Interventional clinical trials:
Search NIH Clinical Center for Oculodentodigital Dysplasia
MalaCards organs/tissues related to Oculodentodigital Dysplasia:33
Eye, Skin, Bone, Cerebellum, Heart, Brain, Kidney
Articles related to Oculodentodigital Dysplasia:(show top 50) (show all 83)
UniProtKB/Swiss-Prot genetic disease variations for Oculodentodigital Dysplasia:67 (show all 42)
Clinvar genetic disease variations for Oculodentodigital Dysplasia:5 (show all 16)
Search GEO for disease gene expression data for Oculodentodigital Dysplasia.
Pathways related to Oculodentodigital Dysplasia according to GeneCards Suite gene sharing:
Cellular components related to Oculodentodigital Dysplasia according to GeneCards Suite gene sharing:
Biological processes related to Oculodentodigital Dysplasia according to GeneCards Suite gene sharing:(show all 14)
Molecular functions related to Oculodentodigital Dysplasia according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet