MCID: DFN296
MIFTS: 19

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. 61 6
24913193 2014
3
Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. 6
28292732 2017
4
TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus. 6
28428906 2017
5
Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability. 6
25769375 2015
6
TBC1D24-Related Disorders 6
25719194 2015
7
DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 6
25169651 2014
8
The genetic basis of DOORS syndrome: an exome-sequencing study. 6
24291220 2014
9
A Danish family with dominant deafness-onychodystrophy syndrome. 61
24421866 2013
10
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 22)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP6V1B2 NM_001693.4(ATP6V1B2):c.1018C>T (p.Arg340Ter) SNV Pathogenic 1033439 GRCh37: 8:20072419-20072419
GRCh38: 8:20214908-20214908
2 TBC1D24 NM_001199107.2(TBC1D24):c.58C>G (p.Gln20Glu) SNV Pathogenic 91397 rs201257588 GRCh37: 16:2546207-2546207
GRCh38: 16:2496206-2496206
3 TBC1D24 NM_001199107.2(TBC1D24):c.1206+5G>A SNV Pathogenic 91399 rs398122968 GRCh37: 16:2549426-2549426
GRCh38: 16:2499425-2499425
4 ATP6V1B2 NM_001693.4(ATP6V1B2):c.1516C>T (p.Arg506Ter) SNV Pathogenic 203442 rs794729667 GRCh37: 8:20077893-20077893
GRCh38: 8:20220382-20220382
5 TBC1D24 NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) SNV Pathogenic 207499 rs376712059 GRCh37: 16:2546606-2546606
GRCh38: 16:2496605-2496605
6 TBC1D24 NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) SNV Pathogenic 91395 rs398122965 GRCh37: 16:2546873-2546873
GRCh38: 16:2496872-2496872
7 TBC1D24 NM_001199107.2(TBC1D24):c.118C>T (p.Arg40Cys) SNV Pathogenic 91396 rs398122966 GRCh37: 16:2546267-2546267
GRCh38: 16:2496266-2496266
8 TBC1D24 NM_001199107.2(TBC1D24):c.1008del (p.His336fs) Deletion Pathogenic 91398 rs398122967 GRCh37: 16:2548263-2548263
GRCh38: 16:2498262-2498262
9 TBC1D24 NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu) SNV Pathogenic 183152 rs760474458 GRCh37: 16:2546268-2546268
GRCh38: 16:2496267-2496267
10 TBC1D24 NM_001199107.2(TBC1D24):c.313T>C (p.Cys105Arg) SNV Pathogenic 183153 rs797044547 GRCh37: 16:2546462-2546462
GRCh38: 16:2496461-2496461
11 TBC1D24 NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser) SNV Pathogenic 183154 rs747821285 GRCh37: 16:2546477-2546477
GRCh38: 16:2496476-2496476
12 TBC1D24 NM_001199107.2(TBC1D24):c.999G>T (p.Leu333Phe) SNV Pathogenic 183155 rs797044548 GRCh37: 16:2548254-2548254
GRCh38: 16:2498253-2498253
13 TBC1D24 NM_001199107.2(TBC1D24):c.1460dup (p.His487fs) Duplication Pathogenic 183156 rs797044549 GRCh37: 16:2550425-2550426
GRCh38: 16:2500424-2500425
14 TBC1D24 NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) SNV Pathogenic 207505 rs747538224 GRCh37: 16:2546994-2546994
GRCh38: 16:2496993-2496993
15 TBC1D24 NM_001199107.2(TBC1D24):c.533C>G (p.Ser178Trp) SNV Likely pathogenic 982832 GRCh37: 16:2546682-2546682
GRCh38: 16:2496681-2496681
16 TBC1D24 NM_001199107.2(TBC1D24):c.965+2T>C SNV Likely pathogenic 1029242 GRCh37: 16:2547116-2547116
GRCh38: 16:2497115-2497115
17 TBC1D24 NM_001199107.2(TBC1D24):c.1288T>C (p.Cys430Arg) SNV Likely pathogenic 242486 rs863224932 GRCh37: 16:2549917-2549917
GRCh38: 16:2499916-2499916
18 TBC1D24 NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) SNV Likely pathogenic 207499 rs376712059 GRCh37: 16:2546606-2546606
GRCh38: 16:2496605-2496605
19 TBC1D24 NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr) SNV Uncertain significance 207506 rs375307187 GRCh37: 16:2547020-2547020
GRCh38: 16:2497019-2497019
20 TBC1D24 NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His) SNV Uncertain significance 207519 rs199700840 GRCh37: 16:2547027-2547027
GRCh38: 16:2497026-2497026
21 TBC1D24 NM_001199107.2(TBC1D24):c.734T>C (p.Leu245Pro) SNV Uncertain significance 626176 rs370477379 GRCh37: 16:2546883-2546883
GRCh38: 16:2496882-2496882
22 ATP6V1B2 NM_001693.4(ATP6V1B2):c.1315G>A (p.Val439Ile) SNV Uncertain significance 1029522 GRCh37: 8:20075712-20075712
GRCh38: 8:20218201-20218201

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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