DDOD
MCID: DFN331
MIFTS: 23

Deafness, Congenital, with Onychodystrophy, Autosomal Dominant (DDOD)

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 57 75 29 6
Ddod Syndrome 57 59 75
Ddod 57 75
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant 73
Autosomal Dominant Deafness-Onychodystrophy Syndrome 59
Nails, Malformed 44

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
onset at birth


HPO:

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


Classifications:



External Ids:

OMIM 57 124480
Orphanet 59 ORPHA79499
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 74 C2675730
MedGen 42 C2675730
UMLS 73 C2675730

Summaries for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

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)

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). Affiliated tissues include skin, and related phenotypes are sensorineural hearing impairment and conical tooth

UniProtKB/Swiss-Prot : 75 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

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

Symptoms via clinical synopsis from OMIM:

57
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:

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

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 29 ATP6V1B2

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

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

41
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
2 ATP6V1B2 NM_001693.3(ATP6V1B2): c.1516C> T (p.Arg506Ter) single nucleotide variant Pathogenic rs794729667 GRCh38 Chromosome 8, 20220382: 20220382

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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