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

DDOD MCID: DFN331 MIFTS: 25	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 ⁵⁸ ⁷⁶ ³⁰ ⁶

Ddod Syndrome ⁵⁸ ⁶⁰ ⁷⁶ ³⁸

Ddod ⁵⁸ ⁷⁶

Deafness, Congenital, and Onychodystrophy, Autosomal Dominant ⁷⁴

Autosomal Dominant Deafness-Onychodystrophy Syndrome ⁶⁰

Characteristics:

Orphanet epidemiological data:

⁶⁰

autosomal dominant deafness-onychodystrophy syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

OMIM:

⁵⁸

Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
onset at birth

HPO:

³³

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

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: ³⁵

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: ⁶⁰

Rare neurological diseases

Rare eye diseases

Rare otorhinolaryngological diseases

Rare skin diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁸ 124480

KEGG ³⁸ H02219

MeSH ⁴⁵ D003638 D009264 D014071

ICD10 via Orphanet ³⁵ Q87.8

UMLS via Orphanet ⁷⁵ C2675730

Orphanet ⁶⁰ ORPHA79499

MedGen ⁴³ C2675730

SNOMED-CT via HPO ⁷⁰ 11375002 205308004 23610003 more

UMLS ⁷⁴ C2675730

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Summaries for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

OMIM : ⁵⁸ 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)

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 skin and eye, and related phenotypes are triphalangeal thumb and conical tooth

UniProtKB/Swiss-Prot : ⁷⁶ 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 Autosomal Dominant Deafness-Onychodystrophy Syndrome family:

Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

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

#	Related Disease	Score	Top Affiliating Genes
1	autosomal dominant deafness-onychodystrophy syndrome	12.2
2	deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome	11.1

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

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

⁶⁰ ³³ (show all 29)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	triphalangeal thumb ⁶⁰ ³³	occasional (7.5%)	Frequent (79-30%)	HP:0001199
2	conical tooth ³³	occasional (7.5%)		HP:0000698
3	selective tooth agenesis ³³	occasional (7.5%)		HP:0001592
4	intellectual disability ⁶⁰		Occasional (29-5%)
5	seizures ⁶⁰		Occasional (29-5%)
6	abnormality of the dentition ⁶⁰		Frequent (79-30%)
7	pes planus ⁶⁰		Occasional (29-5%)
8	abnormal facial shape ⁶⁰		Occasional (29-5%)
9	sensorineural hearing impairment ³³			HP:0000407
10	nail dystrophy ³³			HP:0008404
11	dolichocephaly ⁶⁰		Occasional (29-5%)
12	hypoplastic toenails ⁶⁰		Occasional (29-5%)
13	small nail ³³			HP:0001792
14	brachydactyly ³³			HP:0001156
15	anonychia ³³			HP:0001798
16	high forehead ⁶⁰		Occasional (29-5%)
17	toe syndactyly ³³			HP:0001770
18	severe sensorineural hearing impairment ⁶⁰		Very frequent (99-80%)
19	oligodontia ⁶⁰		Frequent (79-30%)
20	short thumb ⁶⁰		Occasional (29-5%)
21	aplasia cutis congenita ⁶⁰		Occasional (29-5%)
22	absent toenail ⁶⁰		Frequent (79-30%)
23	absent fingernail ⁶⁰		Very frequent (99-80%)
24	poor speech ⁶⁰		Occasional (29-5%)
25	hidrotic ectodermal dysplasia ³³			HP:0007529
26	aplasia/hypoplasia of the nails ⁶⁰		Frequent (79-30%)
27	small, conical teeth ⁶⁰		Occasional (29-5%)
28	absent thumbnail ⁶⁰		Occasional (29-5%)
29	absent fifth fingernail ⁶⁰		Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

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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 ³⁰	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:

⁴²

Skin, Eye

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Publications for Deafness, Congenital, with Onychodystrophy, Autosomal Dominant

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

#	Title	Authors	Year
1	Dominant deafness-onychodystrophy syndrome caused by an ATP6V1B2 mutation. ( 28396750 )	Menendez I...Tekin M	2017
2	De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome. ( 24913193 )	Yuan Y...Dai P	2014
3	Report of a further family with dominant deafness-onychodystrophy (DDOD) syndrome. ( 21998865 )	White SM...Fahey M	2011

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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	PubmedIds
1	ATP6V1B2	ATPase H+ Transporting V1 Subunit B2	Protein Coding	1377.53	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Genetic Tests ³⁰ 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	Variation	Type	Significance	SNP ID	Assembly	Location
1	ATP6V1B2	NM_001693.3(ATP6V1B2): c.1516C> T (p.Arg506Ter)	single nucleotide variant	Pathogenic	rs794729667	GRCh37	Chromosome 8, 20077893: 20077893
2	ATP6V1B2	NM_001693.3(ATP6V1B2): c.1516C> T (p.Arg506Ter)	single nucleotide variant	Pathogenic	rs794729667	GRCh38	Chromosome 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:

³⁸

#	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

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³⁸ KEGG

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⁷² TGDB

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⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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 Autosomal Dominant 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