MCID: DFN312
MIFTS: 17

Deafness, Congenital, with Vitiligo and Achalasia

Categories: Ear diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Deafness, Congenital, with Vitiligo and Achalasia

MalaCards integrated aliases for Deafness, Congenital, with Vitiligo and Achalasia:

Name: Deafness, Congenital, with Vitiligo and Achalasia 56
Congenital Deafness with Vitiligo and Achalasia 52
Hearing Loss-Vitiligo-Achalasia Syndrome 58
Deafness-Vitiligo-Achalasia Syndrome 58
Deafness Vitiligo Achalasia 52

Characteristics:

Orphanet epidemiological data:

58
deafness-vitiligo-achalasia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
deafness, congenital, with vitiligo and achalasia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 221350
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1857339
Orphanet 58 ORPHA3239
MedGen 41 C1857339

Summaries for Deafness, Congenital, with Vitiligo and Achalasia

NIH Rare Diseases : 52 Congenital deafness with vitiligo and achalasia is a syndrome characterized by deafness present from birth (congenital), associated with short stature , vitiligo , muscle wasting and achalasia (swallowing difficulties). The condition was described in a brother and sister born to first cousin parents. It is believed to be inherited in an autosomal recessive manner.

MalaCards based summary : Deafness, Congenital, with Vitiligo and Achalasia, is also known as congenital deafness with vitiligo and achalasia. Affiliated tissues include skeletal muscle and skin, and related phenotypes are sensorineural hearing impairment and eeg abnormality

More information from OMIM: 221350

Related Diseases for Deafness, Congenital, with Vitiligo and Achalasia

Symptoms & Phenotypes for Deafness, Congenital, with Vitiligo and Achalasia

Human phenotypes related to Deafness, Congenital, with Vitiligo and Achalasia:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
2 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
3 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
4 hypopigmented skin patches 58 31 hallmark (90%) Very frequent (99-80%) HP:0001053
5 achalasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002571
6 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
7 hearing impairment 31 HP:0000365
8 short stature 31 HP:0004322
9 vitiligo 31 HP:0001045

Symptoms via clinical synopsis from OMIM:

56
Growth:
short stature

G I:
achalasia

Ears:
congenital hearing loss

Skin:
vitiligo

Muscle:
muscle wasting

Clinical features from OMIM:

221350

Drugs & Therapeutics for Deafness, Congenital, with Vitiligo and Achalasia

Search Clinical Trials , NIH Clinical Center for Deafness, Congenital, with Vitiligo and Achalasia

Genetic Tests for Deafness, Congenital, with Vitiligo and Achalasia

Anatomical Context for Deafness, Congenital, with Vitiligo and Achalasia

MalaCards organs/tissues related to Deafness, Congenital, with Vitiligo and Achalasia:

40
Skeletal Muscle, Skin

Publications for Deafness, Congenital, with Vitiligo and Achalasia

Articles related to Deafness, Congenital, with Vitiligo and Achalasia:

# Title Authors PMID Year
1
Congenital deafness and Hirschsprung's disease. 56
4687269 1973
2
Autosomal recessive deafnessassociated with short stature, vitiligo, muscle wasting and achalasia. 56
5100941 1971

Variations for Deafness, Congenital, with Vitiligo and Achalasia

Expression for Deafness, Congenital, with Vitiligo and Achalasia

Search GEO for disease gene expression data for Deafness, Congenital, with Vitiligo and Achalasia.

Pathways for Deafness, Congenital, with Vitiligo and Achalasia

GO Terms for Deafness, Congenital, with Vitiligo and Achalasia

Sources for Deafness, Congenital, with Vitiligo and Achalasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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