Deafness-Onychodystrophy Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Fetal diseases Rare diseases Genetic diseases
Anatomical: Neuronal diseases Eye diseases Ear diseases Skin diseases Oral diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

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

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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.

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Related Diseases for Deafness-Onychodystrophy Syndrome

Diseases in the Deafness-Onychodystrophy Syndrome family:

Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

Autosomal Dominant Deafness-Onychodystrophy Syndrome

Diseases related to Deafness-Onychodystrophy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome	31.9	TBC1D24 ATP6V1B2
2	autosomal dominant deafness-onychodystrophy syndrome	11.3
3	deafness, congenital, with onychodystrophy, autosomal dominant	11.2
4	branchiootic syndrome 1	10.3
5	brachydactyly	10.0
6	sensorineural hearing loss	9.6	TBC1D24 ATP6V1B2
7	epilepsy	9.5	TBC1D24 ATP6V1B2

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

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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

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Drugs & Therapeutics for Deafness-Onychodystrophy Syndrome

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

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Genetic Tests for Deafness-Onychodystrophy Syndrome

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Anatomical Context for Deafness-Onychodystrophy Syndrome

MalaCards organs/tissues related to Deafness-Onychodystrophy Syndrome:

⁴⁰

Eye

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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	Menendez I...Tekin M	28396750	2017
2	De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome. ⁶¹ ⁶	Yuan Y...Dai P	24913193	2014
3	Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation. ⁶	Ragona F...Granata T	28292732	2017
4	TBC1D24 Mutations in a Sibship with Multifocal Polymyoclonus. ⁶	Ngoh A...Kurian MA	28428906	2017
5	Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability. ⁶	Poulat AL...Lesca G	25769375	2015
6	TBC1D24-Related Disorders ⁶	Mucha BE...Campeau PM	25719194	2015
7	DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. ⁶	Campeau PM...DOORS syndrome collaborative group	25169651	2014
8	The genetic basis of DOORS syndrome: an exome-sequencing study. ⁶	Campeau PM...Sisodiya SM	24291220	2014
9	A Danish family with dominant deafness-onychodystrophy syndrome. ⁶¹	Vind-Kezunovic D...Torring PM	24421866	2013
10	Report of a further family with dominant deafness-onychodystrophy (DDOD) syndrome. ⁶¹	White SM...Fahey M	21998865	2011

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Genes for Deafness-Onychodystrophy Syndrome

Genes related to Deafness-Onychodystrophy Syndrome (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TBC1D24	TBC1 Domain Family Member 24	Protein Coding	425	Pathogenic ⁶ Likely pathogenic ⁶	24291220 25169651 25719194 (more) 25769375 28428906 28292732
2	ATP6V1B2	ATPase H+ Transporting V1 Subunit B2	Protein Coding	407.86	Pathogenic ⁶ GeneCards inferred via : Publications (show sections)	24913193 28396750

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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

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Expression for Deafness-Onychodystrophy Syndrome

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

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Pathways for Deafness-Onychodystrophy Syndrome

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GO Terms for Deafness-Onychodystrophy Syndrome

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