MCID: DFN312
MIFTS: 18

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 57
Congenital Deafness with Vitiligo and Achalasia 53
Deafness-Vitiligo-Achalasia Syndrome 59
Deafness Vitiligo Achalasia 53

Characteristics:

Orphanet epidemiological data:

59
deafness-vitiligo-achalasia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
deafness, congenital, with vitiligo and achalasia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 221350
Orphanet 59 ORPHA3239
UMLS via Orphanet 74 C1857339
ICD10 via Orphanet 34 Q87.8
MedGen 42 C1857339

Summaries for Deafness, Congenital, with Vitiligo and Achalasia

NIH Rare Diseases : 53 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 skin and skeletal muscle, and related phenotypes are eeg abnormality and sensorineural hearing impairment

Description from OMIM: 221350

Related Diseases for Deafness, Congenital, with Vitiligo and Achalasia

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

Symptoms via clinical synopsis from OMIM:

57
Growth:
short stature

G I:
achalasia

Ears:
congenital hearing loss

Skin:
vitiligo

Muscle:
muscle wasting


Clinical features from OMIM:

221350

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

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
2 sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000407
3 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
4 hypopigmented skin patches 59 32 hallmark (90%) Very frequent (99-80%) HP:0001053
5 achalasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002571
6 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
7 hearing impairment 32 HP:0000365
8 short stature 32 HP:0004322
9 vitiligo 32 HP:0001045

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:

41
Skin, Skeletal Muscle

Publications for Deafness, Congenital, with Vitiligo and Achalasia

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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