DDOD
MCID: DFN331
MIFTS: 24

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

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases, Skin 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 58 76 30 6
Ddod Syndrome 58 60 76 38
Ddod 58 76
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant 74
Autosomal Dominant Deafness-Onychodystrophy Syndrome 60

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;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
onset at birth


HPO:

33
deafness, congenital, with onychodystrophy, autosomal dominant:
Onset and clinical course congenital onset phenotypic variability
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 124480
KEGG 38 H02219
ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C2675730
Orphanet 60 ORPHA79499
MedGen 43 C2675730
UMLS 74 C2675730

Summaries for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

OMIM : 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.

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 12.2
2 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 11.1

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

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

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 triphalangeal thumb 33 occasional (7.5%) HP:0001199
2 conical tooth 33 occasional (7.5%) HP:0000698
3 selective tooth agenesis 33 occasional (7.5%) HP:0001592
4 sensorineural hearing impairment 33 HP:0000407
5 nail dystrophy 33 HP:0008404
6 small nail 33 HP:0001792
7 brachydactyly 33 HP:0001156
8 anonychia 33 HP:0001798
9 toe syndactyly 33 HP:0001770
10 hidrotic ectodermal dysplasia 33 HP:0007529

Symptoms via clinical synopsis from OMIM:

58
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

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

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

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 30 ATP6V1B2

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

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

42
Skin, Eye

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

Pathways related to Deafness, Congenital, with Onychodystrophy, Autosomal Dominant according to KEGG:

38
# Name Kegg Source Accession
1 mTOR signaling pathway hsa04150
2 Synaptic vesicle cycle hsa04721

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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