DDOD
MCID: DFN331
MIFTS: 27

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 56 73 29 6
Ddod Syndrome 56 58 73 36
Ddod 56 73
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant 71
Autosomal Dominant Deafness-Onychodystrophy Syndrome 58

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:

56
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:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 124480
KEGG 36 H02219
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C2675730
Orphanet 58 ORPHA79499
MedGen 41 C2675730
UMLS 71 C2675730

Summaries for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

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 skin, and related phenotypes are triphalangeal thumb and conical tooth

OMIM : 56 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)

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.

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

Diseases in the Deafness-Onychodystrophy Syndrome family:

Deafness, Congenital, with Onychodystrophy, Autosomal Dominant Autosomal Dominant Deafness-Onychodystrophy Syndrome

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

(showing 4, show less)
# Related Disease Score Top Affiliating Genes
1 autosomal dominant deafness-onychodystrophy syndrome 12.4
2 deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome 11.2
3 branchiootic syndrome 1 10.2
4 deafness-onychodystrophy syndrome 10.2

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

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

58 31 (showing 29, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 triphalangeal thumb 58 31 occasional (7.5%) Frequent (79-30%) HP:0001199
2 conical tooth 31 occasional (7.5%) HP:0000698
3 selective tooth agenesis 31 occasional (7.5%) HP:0001592
4 intellectual disability 58 Occasional (29-5%)
5 seizures 58 Occasional (29-5%)
6 abnormality of the dentition 58 Frequent (79-30%)
7 pes planus 58 Occasional (29-5%)
8 abnormal facial shape 58 Occasional (29-5%)
9 brachydactyly 31 HP:0001156
10 small nail 31 HP:0001792
11 sensorineural hearing impairment 31 HP:0000407
12 dolichocephaly 58 Occasional (29-5%)
13 nail dystrophy 31 HP:0008404
14 hypoplastic toenails 58 Occasional (29-5%)
15 aplasia/hypoplasia of the nails 58 Frequent (79-30%)
16 poor speech 58 Occasional (29-5%)
17 high forehead 58 Occasional (29-5%)
18 anonychia 31 HP:0001798
19 short thumb 58 Occasional (29-5%)
20 toe syndactyly 31 HP:0001770
21 severe sensorineural hearing impairment 58 Very frequent (99-80%)
22 absent thumbnail 58 Occasional (29-5%)
23 oligodontia 58 Frequent (79-30%)
24 aplasia cutis congenita 58 Occasional (29-5%)
25 absent toenail 58 Frequent (79-30%)
26 absent fingernail 58 Very frequent (99-80%)
27 hidrotic ectodermal dysplasia 31 HP:0007529
28 small, conical teeth 58 Occasional (29-5%)
29 absent fifth fingernail 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
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 29 ATP6V1B2

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

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

40
Eye, Skin

Publications for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

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

(showing 11, show less)
# Title Authors PMID Year
1
Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation. 61 56 6
28396750 2017
2
De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome. 6 56
24913193 2014
3
Report of a further family with dominant deafness-onychodystrophy (DDOD) syndrome. 61 56
21998865 2011
4
DOOR syndrome: clinical report, literature review and discussion of natural history. 56
17994565 2007
5
Autosomal dominant onychodystrophy and congenital sensorineural deafness. 56
9929981 1999
6
Hereditary sensorineural hearing loss associated with onychodystrophy and digital malformations. 56
5056117 1972
7
Hereditary congenital deafness with onychodystrophy. 56
5806072 1969
8
Congenital deafness associated with onychodystrophy. 56
13892065 1961
9
EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities. 61
31655144 2019
10
A subunit of V-ATPases, ATP6V1B2, underlies the pathology of intellectual disability. 61
31257146 2019
11
A Danish family with dominant deafness-onychodystrophy syndrome. 61
24421866 2013

Variations for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

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

6 (showing 1, show less) ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATP6V1B2 NM_001693.4(ATP6V1B2):c.1516C>T (p.Arg506Ter)SNV Pathogenic 203442 rs794729667 8:20077893-20077893 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:

36 (showing 2, show less)
# 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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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