MCID: DFN331
MIFTS: 24

Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

Categories: Genetic diseases, Rare diseases, Ear diseases, Neuronal diseases, Skin diseases, Fetal 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 53 71 28
Ddod Syndrome 53 55 71
Ddod 53 71
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant 69
Autosomal Dominant Deafness-Onychodystrophy Syndrome 55
Nails, Malformed 41

Characteristics:

Orphanet epidemiological data:

55
autosomal dominant deafness-onychodystrophy syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
onset at birth


HPO:

31
deafness, congenital, with onychodystrophy, autosomal dominant:
Onset and clinical course congenital onset phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 124480
Orphanet 55 ORPHA79499
UMLS via Orphanet 70 C2675730
ICD10 via Orphanet 33 Q87.8
MedGen 39 C2675730
UMLS 69 C2675730

Summaries for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

OMIM : 53 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, and has symptoms including sensorineural hearing impairment, nail dystrophy and small nail. 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:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant deafness-onychodystrophy syndrome 12.0
2 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 10.9
3 branchiootic syndrome 1 9.9

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

Symptoms via clinical synopsis from OMIM:

53
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
absent nails
dystrophic 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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 nail dystrophy 31 HP:0008404
3 small nail 31 HP:0001792
4 brachydactyly 31 HP:0001156
5 anonychia 31 HP:0001798
6 triphalangeal thumb 31 occasional (7.5%) HP:0001199
7 toe syndactyly 31 HP:0001770
8 conical tooth 31 occasional (7.5%) HP:0000698
9 selective tooth agenesis 31 occasional (7.5%) HP:0001592
10 hidrotic ectodermal dysplasia 31 HP:0007529

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:

# Genetic test Affiliating Genes
1 Deafness, Congenital, with Onychodystrophy, Autosomal Dominant 28 ATP6V1B2

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

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

38
Skin

Publications for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

Articles related to Deafness, Congenital, with Onychodystrophy, Autosomal Dominant:

# Title Authors Year
1
Report of a further family with dominant deafness-onychodystrophy (DDOD) syndrome. ( 21998865 )
2011

Variations for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

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

6
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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