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 58
Congenital Deafness with Vitiligo and Achalasia 54
Deafness-Vitiligo-Achalasia Syndrome 60
Deafness Vitiligo Achalasia 54

Characteristics:

Orphanet epidemiological data:

60
deafness-vitiligo-achalasia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
deafness, congenital, with vitiligo and achalasia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 221350
ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C1857339
Orphanet 60 ORPHA3239
MedGen 43 C1857339

Summaries for Deafness, Congenital, with Vitiligo and Achalasia

NIH Rare Diseases : 54 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

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

60 33 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0002353
2 sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000407
3 skeletal muscle atrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0003202
4 hypopigmented skin patches 60 33 hallmark (90%) Very frequent (99-80%) HP:0001053
5 achalasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002571
6 severe short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0003510
7 hearing impairment 33 HP:0000365
8 short stature 33 HP:0004322
9 vitiligo 33 HP:0001045

Symptoms via clinical synopsis from OMIM:

58
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:

42
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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