MCID: DFN296
MIFTS: 18

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 58
Hearing Loss-Onychodystrophy Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
deafness-onychodystrophy syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

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


External Ids:

ICD10 via Orphanet 33 Q87.8
Orphanet 58 ORPHA3231

Summaries for Deafness-Onychodystrophy Syndrome

MalaCards based summary : Deafness-Onychodystrophy Syndrome, also known as hearing loss-onychodystrophy syndrome, is related to deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome and autosomal dominant deafness-onychodystrophy syndrome. An important gene associated with Deafness-Onychodystrophy Syndrome is TBC1D24 (TBC1 Domain Family Member 24). Affiliated tissues include eye, and related phenotype is hearing/vestibular/ear.

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

MGI Mouse Phenotypes related to Deafness-Onychodystrophy Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 8.62 ATP6V1B2 TBC1D24

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:

40
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. 6 61
28396750 2017
2
De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome. 6 61
24913193 2014
3
The genetic basis of DOORS syndrome: an exome-sequencing study. 6
24291220 2014
4
A Danish family with dominant deafness-onychodystrophy syndrome. 61
24421866 2013
5
Report of a further family with dominant deafness-onychodystrophy (DDOD) syndrome. 61
21998865 2011

Variations for Deafness-Onychodystrophy Syndrome

ClinVar genetic disease variations for Deafness-Onychodystrophy Syndrome:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBC1D24 NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) SNV Pathogenic 91395 rs398122965 16:2546873-2546873 16:2496872-2496872
2 TBC1D24 NM_001199107.2(TBC1D24):c.118C>T (p.Arg40Cys) SNV Pathogenic 91396 rs398122966 16:2546267-2546267 16:2496266-2496266
3 TBC1D24 NM_001199107.2(TBC1D24):c.1008del (p.His336fs) Deletion Pathogenic 91398 rs398122967 16:2548263-2548263 16:2498262-2498262
4 TBC1D24 NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu) SNV Pathogenic 183152 rs760474458 16:2546268-2546268 16:2496267-2496267
5 TBC1D24 NM_001199107.2(TBC1D24):c.313T>C (p.Cys105Arg) SNV Pathogenic 183153 rs797044547 16:2546462-2546462 16:2496461-2496461
6 TBC1D24 NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser) SNV Pathogenic 183154 rs747821285 16:2546477-2546477 16:2496476-2496476
7 TBC1D24 NM_001199107.2(TBC1D24):c.999G>T (p.Leu333Phe) SNV Pathogenic 183155 rs797044548 16:2548254-2548254 16:2498253-2498253
8 TBC1D24 NM_001199107.2(TBC1D24):c.1460dup (p.His487fs) Duplication Pathogenic 183156 rs797044549 16:2550425-2550426 16:2500424-2500425
9 ATP6V1B2 NM_001693.4(ATP6V1B2):c.1516C>T (p.Arg506Ter) SNV Pathogenic 203442 rs794729667 8:20077893-20077893 8:20220382-20220382
10 TBC1D24 NM_001199107.2(TBC1D24):c.58C>G (p.Gln20Glu) SNV Pathogenic 91397 rs201257588 16:2546207-2546207 16:2496206-2496206
11 TBC1D24 NM_001199107.2(TBC1D24):c.1206+5G>A SNV Pathogenic 91399 rs398122968 16:2549426-2549426 16:2499425-2499425
12 TBC1D24 NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) SNV Pathogenic 207499 rs376712059 16:2546606-2546606 16:2496605-2496605
13 TBC1D24 NM_001199107.2(TBC1D24):c.533C>G (p.Ser178Trp) SNV Likely pathogenic 982832 16:2546682-2546682 16:2496681-2496681
14 TBC1D24 NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) SNV Likely pathogenic 207499 rs376712059 16:2546606-2546606 16:2496605-2496605
15 TBC1D24 NM_001199107.2(TBC1D24):c.1288T>C (p.Cys430Arg) SNV Likely pathogenic 242486 rs863224932 16:2549917-2549917 16:2499916-2499916
16 TBC1D24 NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr) SNV Uncertain significance 207506 rs375307187 16:2547020-2547020 16:2497019-2497019
17 TBC1D24 NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His) SNV Uncertain significance 207519 rs199700840 16:2547027-2547027 16:2497026-2497026
18 TBC1D24 NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro) SNV Uncertain significance 626176 rs370477379 16:2546883-2546883 16:2496882-2496882

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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