Oculodentodigital Dysplasia malady
Categories: Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Skin diseases, Fetal diseases, Oral diseases
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources
Aliases & Descriptions for Oculodentodigital Dysplasia:
Orphanet epidemiological data:52
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal
Inheritance: autosomal dominant inheritance
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
OMIM:50 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 erythrokeratodermia variabilis et progressiva, 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), and among its related pathways are Antiarrhythmic Pathway, Pharmacodynamics and Transport of connexins along the secretory pathway. Affiliated tissues include eye, skin and bone, and related mouse phenotype mortality/aging.
Disease Ontology:11 A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities.
Genetics Home Reference:24 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:46 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:68 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:69 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:52 (show all 84)
HPO human phenotypes related to Oculodentodigital Dysplasia:(show all 120)
Drugs for Oculodentodigital Dysplasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):
Interventional clinical trials:(show all 11)
Search NIH Clinical Center for Oculodentodigital Dysplasia
MalaCards organs/tissues related to Oculodentodigital Dysplasia:34
Eye, Skin, Bone, Heart, Cerebellum, Brain, Kidney
Articles related to Oculodentodigital Dysplasia:(show top 50) (show all 89)
UniProtKB/Swiss-Prot genetic disease variations for Oculodentodigital Dysplasia:68 (show all 42)
Clinvar genetic disease variations for Oculodentodigital Dysplasia:5 (show all 14)
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 20)
Molecular functions related to Oculodentodigital Dysplasia according to GeneCards Suite gene sharing:
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet