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DDOD
MCID: DFN331
MIFTS: 24
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Deafness, Congenital, with Onychodystrophy, Autosomal Dominant (DDOD)
Categories:
Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant
MalaCards integrated aliases for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant:
Characteristics:Orphanet epidemiological data:60
autosomal dominant deafness-onychodystrophy syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy; HPO:33
deafness, congenital, with onychodystrophy, autosomal dominant:
Onset and clinical course congenital onset phenotypic variability Inheritance autosomal dominant inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Ear diseases Skin diseases Oral diseases
ICD10:
35
Orphanet: 60
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis
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OMIM
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58
The DDOD syndrome is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy. Conical, hypoplastic teeth is also a feature (Robinson et al., 1962).
See also DOOR syndrome (220500), an autosomal recessive disorder, which includes congenital deafness, onychodystrophy, osteodystrophy, and mental retardation. (124480)
MalaCards based summary : Deafness, Congenital, with Onychodystrophy, Autosomal Dominant, also known as ddod syndrome, is related to autosomal dominant deafness-onychodystrophy syndrome and deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome. An important gene associated with Deafness, Congenital, with Onychodystrophy, Autosomal Dominant is ATP6V1B2 (ATPase H+ Transporting V1 Subunit B2), and among its related pathways/superpathways are mTOR signaling pathway and Synaptic vesicle cycle. Affiliated tissues include skin and eye, and related phenotypes are triphalangeal thumb and conical tooth UniProtKB/Swiss-Prot : 76 Deafness, congenital, with onychodystrophy, autosomal dominant: An autosomal dominant syndrome characterized mainly by congenital sensorineural hearing loss accompanied by dystrophic or absent nails. Coniform teeth, selective tooth agenesis, and hands and feet abnormalities are present in some patients. |
Diseases in the Autosomal Dominant Deafness-Onychodystrophy Syndrome family:
Diseases related to Deafness, Congenital, with Onychodystrophy, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Deafness, Congenital, with Onychodystrophy, Autosomal Dominant:33 (show all 10)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:124480 |
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MalaCards organs/tissues related to Deafness, Congenital, with Onychodystrophy, Autosomal Dominant:42
Skin,
Eye
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Articles related to Deafness, Congenital, with Onychodystrophy, Autosomal Dominant:
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Genes related to Deafness, Congenital, with Onychodystrophy, Autosomal Dominant (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant:6
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Search
GEO
for disease gene expression data for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant.
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