MCID: DFN331
MIFTS: 21

Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

Categories: Genetic diseases, Neuronal diseases, Ear diseases, Skin diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

MalaCards integrated aliases for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant:

Name: Deafness, Congenital, with Onychodystrophy, Autosomal Dominant 54 71 29
Ddod Syndrome 56 71
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant 69
Autosomal Dominant Deafness-Onychodystrophy Syndrome 56
Nails, Malformed 42
Ddod 71

Characteristics:

Orphanet epidemiological data:

56
autosomal dominant deafness-onychodystrophy syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth
variable phenotype


HPO:

32
deafness, congenital, with onychodystrophy, autosomal dominant:
Onset and clinical course phenotypic variability congenital onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 124480
Orphanet 56 ORPHA79499
UMLS via Orphanet 70 C2675730
ICD10 via Orphanet 34 Q87.8
MedGen 40 C2675730

Summaries for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

OMIM : 54
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 has symptoms including brachydactyly, toe syndactyly and sensorineural hearing impairment. An important gene associated with Deafness, Congenital, with Onychodystrophy, Autosomal Dominant is ATP6V1B2 (ATPase H+ Transporting V1 Subunit B2). Affiliated tissues include skin.

UniProtKB/Swiss-Prot : 71 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.

Related Diseases for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

Diseases in the Autosomal Dominant Deafness-Onychodystrophy Syndrome family:

Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

Diseases related to Deafness, Congenital, with Onychodystrophy, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 autosomal dominant deafness-onychodystrophy syndrome 12.1

Symptoms & Phenotypes for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Hands:
brachydactyly
finger-like thumbs
triphalangeal thumbs (in some patients)
short terminal phalanx of the fifth finger
aplasia of middle phalanx of fifth finger
more
Head And Neck- Ears:
hearing loss, sensorineural

Skeletal- Feet:
syndactyly of toes (in some patients)
hypoplasia or absence of the terminal phalanges

Skin Nails & Hair- Nails:
hypoplastic nails
dystrophic nails
absent nails
small nails
fissured nails

Head And Neck- Teeth:
coniform teeth (in some patents)
selective tooth agenesis (in some patients)


Clinical features from OMIM:

124480

Human phenotypes related to Deafness, Congenital, with Onychodystrophy, Autosomal Dominant:

32 (show all 10)
id Description HPO Frequency HPO Source Accession
1 brachydactyly 32 HP:0001156
2 toe syndactyly 32 HP:0001770
3 sensorineural hearing impairment 32 HP:0000407
4 anonychia 32 HP:0001798
5 nail dystrophy 32 HP:0008404
6 selective tooth agenesis 32 occasional (7.5%) HP:0001592
7 triphalangeal thumb 32 occasional (7.5%) HP:0001199
8 hidrotic ectodermal dysplasia 32 HP:0007529
9 small nail 32 HP:0001792
10 conical tooth 32 occasional (7.5%) HP:0000698

Drugs & Therapeutics for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

Cochrane evidence based reviews: nails, malformed

Genetic Tests for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

Genetic tests related to Deafness, Congenital, with Onychodystrophy, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Deafness, Congenital, with Onychodystrophy, Autosomal Dominant 29

Anatomical Context for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

MalaCards organs/tissues related to Deafness, Congenital, with Onychodystrophy, Autosomal Dominant:

39
Skin

Publications for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

Variations for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

ClinVar genetic disease variations for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ATP6V1B2 NM_001693.3(ATP6V1B2): c.1516C> T (p.Arg506Ter) single nucleotide variant Pathogenic rs794729667 GRCh37 Chromosome 8, 20077893: 20077893

Expression for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

Search GEO for disease gene expression data for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant.

Pathways for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

GO Terms for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

Sources for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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