MCID: DFN296
MIFTS: 13

Deafness-Onychodystrophy Syndrome

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Deafness-Onychodystrophy Syndrome

MalaCards integrated aliases for Deafness-Onychodystrophy Syndrome:

Name: Deafness-Onychodystrophy Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
deafness-onychodystrophy syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q87.8
Orphanet 59 ORPHA3231

Summaries for Deafness-Onychodystrophy Syndrome

MalaCards based summary : Deafness-Onychodystrophy Syndrome is related to autosomal dominant deafness-onychodystrophy syndrome and deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome. An important gene associated with Deafness-Onychodystrophy Syndrome is ATP6V1B2 (ATPase H+ Transporting V1 Subunit B2). Affiliated tissues include skin and eye.

Related Diseases for Deafness-Onychodystrophy Syndrome

Graphical network of the top 20 diseases related to Deafness-Onychodystrophy Syndrome:



Diseases related to Deafness-Onychodystrophy Syndrome

Symptoms & Phenotypes for Deafness-Onychodystrophy Syndrome

Drugs & Therapeutics for Deafness-Onychodystrophy Syndrome

Search Clinical Trials , NIH Clinical Center for Deafness-Onychodystrophy Syndrome

Genetic Tests for Deafness-Onychodystrophy Syndrome

Anatomical Context for Deafness-Onychodystrophy Syndrome

MalaCards organs/tissues related to Deafness-Onychodystrophy Syndrome:

41
Skin, Eye

Publications for Deafness-Onychodystrophy Syndrome

Articles related to Deafness-Onychodystrophy Syndrome:

# Title Authors PMID Year
1
Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation. 38 71
28396750 2017
2
De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome. 38 71
24913193 2014
3
TBC1D24-Related Disorders 71
25719194 2015
4
The genetic basis of DOORS syndrome: an exome-sequencing study. 71
24291220 2014
5
A Danish family with dominant deafness-onychodystrophy syndrome. 38
24421866 2013
6
Report of a further family with dominant deafness-onychodystrophy (DDOD) syndrome. 38
21998865 2011

Variations for Deafness-Onychodystrophy Syndrome

Expression for Deafness-Onychodystrophy Syndrome

Search GEO for disease gene expression data for Deafness-Onychodystrophy Syndrome.

Pathways for Deafness-Onychodystrophy Syndrome

GO Terms for Deafness-Onychodystrophy Syndrome

Sources for Deafness-Onychodystrophy Syndrome

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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