Deafness, Congenital, with Onychodystrophy, Autosomal Dominant disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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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 ⁷³ ²⁹ ⁶

Ddod Syndrome ⁵⁷ ⁵⁸ ⁷³ ³⁶

Ddod ⁵⁷ ⁷³

Deafness, Congenital, and Onychodystrophy, Autosomal Dominant ⁷¹

Autosomal Dominant Congenital Deafness with Onychodystrophy ¹²

Autosomal Dominant Hearing Loss-Onychodystrophy Syndrome ⁵⁸

Autosomal Dominant Deafness-Onychodystrophy Syndrome ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

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 (Updated 05-Mar-2021)

Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
onset at birth

HPO:

³¹

deafness, congenital, with onychodystrophy, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare 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:

Disease Ontology ¹² DOID:0080720

OMIM® ⁵⁷ 124480

KEGG ³⁶ H02219

MeSH ⁴⁴ D003638 D009264 D014071

ICD10 via Orphanet ³³ Q87.8

UMLS via Orphanet ⁷² C2675730

Orphanet ⁵⁸ ORPHA79499

MedGen ⁴¹ C2675730

SNOMED-CT via HPO ⁶⁸ 11375002 205308004 23610003 more

UMLS ⁷¹ C2675730

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Summaries for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

KEGG : ³⁶ 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 eye, and related phenotypes are triphalangeal thumb and conical tooth

Disease Ontology : ¹² A syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that has material basis in heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21.

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) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : ⁷³ 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.

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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
1	autosomal dominant deafness-onychodystrophy syndrome	11.6
2	deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome	10.9
3	branchiootic syndrome 1	10.1
4	deafness-onychodystrophy syndrome	9.9

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Symptoms & Phenotypes for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

Human phenotypes related to Deafness, Congenital, with Onychodystrophy, Autosomal Dominant:

⁵⁸ ³¹ (show all 29)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	triphalangeal thumb ⁵⁸ ³¹	occasional (7.5%)	Frequent (79-30%)	HP:0001199
2	conical tooth ³¹	occasional (7.5%)		HP:0000698
3	selective tooth agenesis ³¹	occasional (7.5%)		HP:0001592
4	intellectual disability ⁵⁸		Occasional (29-5%)
5	seizures ⁵⁸		Occasional (29-5%)
6	abnormality of the dentition ⁵⁸		Frequent (79-30%)
7	pes planus ⁵⁸		Occasional (29-5%)
8	abnormal facial shape ⁵⁸		Occasional (29-5%)
9	sensorineural hearing impairment ³¹			HP:0000407
10	hypoplastic toenails ⁵⁸		Occasional (29-5%)
11	dolichocephaly ⁵⁸		Occasional (29-5%)
12	brachydactyly ³¹			HP:0001156
13	high forehead ⁵⁸		Occasional (29-5%)
14	short thumb ⁵⁸		Occasional (29-5%)
15	toe syndactyly ³¹			HP:0001770
16	nail dystrophy ³¹			HP:0008404
17	severe sensorineural hearing impairment ⁵⁸		Very frequent (99-80%)
18	aplasia/hypoplasia of the nails ⁵⁸		Frequent (79-30%)
19	small nail ³¹			HP:0001792
20	oligodontia ⁵⁸		Frequent (79-30%)
21	anonychia ³¹			HP:0001798
22	aplasia cutis congenita ⁵⁸		Occasional (29-5%)
23	absent fingernail ⁵⁸		Very frequent (99-80%)
24	absent toenail ⁵⁸		Frequent (79-30%)
25	poor speech ⁵⁸		Occasional (29-5%)
26	hidrotic ectodermal dysplasia ³¹			HP:0007529
27	small, conical teeth ⁵⁸		Occasional (29-5%)
28	absent thumbnail ⁵⁸		Occasional (29-5%)
29	absent fifth fingernail ⁵⁸		Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

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 (Updated 05-Mar-2021)

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Drugs & Therapeutics for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

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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

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Anatomical Context for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

MalaCards organs/tissues related to Deafness, Congenital, with Onychodystrophy, Autosomal Dominant:

⁴⁰

Eye

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Publications for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

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

(show all 13)

#	Title	Authors	PMID	Year
1	Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation. ⁶ ⁵⁷ ⁶¹	Menendez I...Tekin M	28396750	2017
2	De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome. ⁶ ⁵⁷	Yuan Y...Dai P	24913193	2014
3	Report of a further family with dominant deafness-onychodystrophy (DDOD) syndrome. ⁶¹ ⁵⁷	White SM...Fahey M	21998865	2011
4	DOOR syndrome: clinical report, literature review and discussion of natural history. ⁵⁷	James AW...Golabi M	17994565	2007
5	Autosomal dominant onychodystrophy and congenital sensorineural deafness. ⁵⁷	Kondoh T...Tsuji Y	9929981	1999
6	Hereditary sensorineural hearing loss associated with onychodystrophy and digital malformations. ⁵⁷	Moghadam H...Statten P	5056117	1972
7	Hereditary congenital deafness with onychodystrophy. ⁵⁷	Goodman RM...Gwinup G	5806072	1969
8	Congenital deafness associated with onychodystrophy. ⁵⁷	FEINMESSER M...ZELIG S	13892065	1961
9	DOORS syndrome and a recurrent truncating ATP6V1B2 variant. ⁶¹	Beauregard-Lacroix E...Campeau PM	32873933	2021
10	Establishment of human induced pluripotent stem cell line (CPGHi002-A) from a 10-month-old female patient with DDOD syndrome carrying a heterozygous c.1516 C > T mutation in ATP6V1B2. ⁶¹	Gao X...Yuan YY	32961450	2020
11	EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities. ⁶¹	Shaw M...Gecz J	31655144	2020
12	A subunit of V-ATPases, ATP6V1B2, underlies the pathology of intellectual disability. ⁶¹	Zhao W...Yuan Y	31257146	2019
13	A Danish family with dominant deafness-onychodystrophy syndrome. ⁶¹	Vind-Kezunovic D...Torring PM	24421866	2013

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Genes for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

Genes related to Deafness, Congenital, with Onychodystrophy, Autosomal Dominant (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ATP6V1B2	ATPase H+ Transporting V1 Subunit B2	Protein Coding	1367.1	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁸ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	24913193 28396750

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Variations for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

ClinVar genetic disease variations for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	ATP6V1B2	NM_001693.4(ATP6V1B2):c.1516C>T (p.Arg506Ter)	SNV	Pathogenic	203442	rs794729667	8:20077893-20077893	8:20220382-20220382

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Expression for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

Search GEO for disease gene expression data for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant.

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Pathways for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

Pathways related to Deafness, Congenital, with Onychodystrophy, Autosomal Dominant according to KEGG:

³⁶

#	Name	Kegg Source Accession
1	mTOR signaling pathway	hsa04150
2	Synaptic vesicle cycle	hsa04721

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GO Terms for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

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Sources for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Deafness, Congenital, with Onychodystrophy, Autosomal Dominant (DDOD)

Aliases & Classifications for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

MalaCards integrated aliases for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

Related Diseases for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

Diseases in the Deafness-Onychodystrophy Syndrome family:

Diseases related to Deafness, Congenital, with Onychodystrophy, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

Human phenotypes related to Deafness, Congenital, with Onychodystrophy, Autosomal Dominant:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics 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:

Anatomical Context for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

MalaCards organs/tissues related to Deafness, Congenital, with Onychodystrophy, Autosomal Dominant:

Publications for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

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

Genes for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

Genes related to Deafness, Congenital, with Onychodystrophy, Autosomal Dominant (1 elite genes):

Variations for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

ClinVar genetic disease variations for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant:

Expression 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:

GO Terms for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

Sources for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant