DDOD
MCID: DFN331
MIFTS: 27
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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:58
autosomal dominant deafness-onychodystrophy syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
variable phenotype onset at birth HPO:31
deafness, congenital, with onychodystrophy, autosomal dominant:
Inheritance autosomal dominant inheritance Onset and clinical course congenital onset Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Ear diseases Skin diseases Oral diseases
ICD10:
33
Orphanet: 58
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KEGG :
36
Dominant deafness-onychodystrophy (DDOD) is an autosomal dominant syndrome characterized mainly by congenital sensorineural hearing loss accompanied by dystrophic or absent nails. Patients with DDOD syndrome have normal development and cognitive functions. It has been suggested that de novo mutation in ATP6V1B2 impairs lysosome acidification and causes DDOD.
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 eye, and related phenotypes are triphalangeal thumb and conical tooth Disease Ontology : 12 A syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that has material basis in heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21. OMIM® : 57 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) (Updated 05-Mar-2021) UniProtKB/Swiss-Prot : 73 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 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:58 31 (show all 29)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:124480 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Deafness, Congenital, with Onychodystrophy, Autosomal Dominant:40
Eye
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Articles related to Deafness, Congenital, with Onychodystrophy, Autosomal Dominant:(show all 13)
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ClinVar genetic disease variations for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant:6
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GEO
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