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 57 74 29 6
Ddod Syndrome 57 59 74 37
Ddod 57 74
Deafness, Congenital, and Onychodystrophy, Autosomal Dominant 72
Autosomal Dominant Deafness-Onychodystrophy Syndrome 59

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:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 57 124480
KEGG 37 H02219
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C2675730
Orphanet 59 ORPHA79499
MedGen 42 C2675730
UMLS 72 C2675730

Summaries for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

KEGG : 37
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 skin and eye, and related phenotypes are triphalangeal thumb and conical tooth

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)

UniProtKB/Swiss-Prot : 74 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:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant deafness-onychodystrophy syndrome 12.3
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:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 triphalangeal thumb 59 32 occasional (7.5%) Frequent (79-30%) HP:0001199
2 conical tooth 32 occasional (7.5%) HP:0000698
3 selective tooth agenesis 32 occasional (7.5%) HP:0001592
4 intellectual disability 59 Occasional (29-5%)
5 seizures 59 Occasional (29-5%)
6 abnormality of the dentition 59 Frequent (79-30%)
7 pes planus 59 Occasional (29-5%)
8 abnormal facial shape 59 Occasional (29-5%)
9 sensorineural hearing impairment 32 HP:0000407
10 dolichocephaly 59 Occasional (29-5%)
11 nail dystrophy 32 HP:0008404
12 hypoplastic toenails 59 Occasional (29-5%)
13 small nail 32 HP:0001792
14 brachydactyly 32 HP:0001156
15 anonychia 32 HP:0001798
16 high forehead 59 Occasional (29-5%)
17 short thumb 59 Occasional (29-5%)
18 toe syndactyly 32 HP:0001770
19 severe sensorineural hearing impairment 59 Very frequent (99-80%)
20 aplasia/hypoplasia of the nails 59 Frequent (79-30%)
21 poor speech 59 Occasional (29-5%)
22 absent thumbnail 59 Occasional (29-5%)
23 oligodontia 59 Frequent (79-30%)
24 aplasia cutis congenita 59 Occasional (29-5%)
25 absent toenail 59 Frequent (79-30%)
26 absent fingernail 59 Very frequent (99-80%)
27 hidrotic ectodermal dysplasia 32 HP:0007529
28 small, conical teeth 59 Occasional (29-5%)
29 absent fifth fingernail 59 Occasional (29-5%)

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

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:

41
Skin, Eye

Publications for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

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

# Title Authors PMID Year
1
Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation. 38 8 71
28396750 2017
2
De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome. 8 71
24913193 2014
3
Report of a further family with dominant deafness-onychodystrophy (DDOD) syndrome. 38 8
21998865 2011
4
DOOR syndrome: clinical report, literature review and discussion of natural history. 8
17994565 2007
5
Autosomal dominant onychodystrophy and congenital sensorineural deafness. 8
9929981 1999
6
Hereditary sensorineural hearing loss associated with onychodystrophy and digital malformations. 8
5056117 1972
7
Hereditary congenital deafness with onychodystrophy. 8
5806072 1969
8
Congenital deafness associated with onychodystrophy. 8
13892065 1961
9
A subunit of V-ATPases, ATP6V1B2, underlies the pathology of intellectual disability. 38
31257146 2019
10
A Danish family with dominant deafness-onychodystrophy syndrome. 38
24421866 2013

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 GRCh37 Pos GRCh38 Pos
1 ATP6V1B2 NM_001693.4(ATP6V1B2): c.1516C> T (p.Arg506Ter) single nucleotide variant Pathogenic 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:

37
# 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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