MCID: HYP489
MIFTS: 19

Hypotrichosis-Deafness Syndrome

Categories: Ear diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hypotrichosis-Deafness Syndrome

MalaCards integrated aliases for Hypotrichosis-Deafness Syndrome:

Name: Hypotrichosis-Deafness Syndrome 59

Characteristics:

Orphanet epidemiological data:

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

Classifications:



External Ids:

Orphanet 59 ORPHA330029
ICD10 via Orphanet 34 H90.5

Summaries for Hypotrichosis-Deafness Syndrome

MalaCards based summary : Hypotrichosis-Deafness Syndrome is related to hypotrichosis and deafness, autosomal dominant 3a. An important gene associated with Hypotrichosis-Deafness Syndrome is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are Vesicle-mediated transport and G-Beta Gamma Signaling. Affiliated tissues include skin.

Related Diseases for Hypotrichosis-Deafness Syndrome

Graphical network of the top 20 diseases related to Hypotrichosis-Deafness Syndrome:



Diseases related to Hypotrichosis-Deafness Syndrome

Symptoms & Phenotypes for Hypotrichosis-Deafness Syndrome

Drugs & Therapeutics for Hypotrichosis-Deafness Syndrome

Search Clinical Trials , NIH Clinical Center for Hypotrichosis-Deafness Syndrome

Genetic Tests for Hypotrichosis-Deafness Syndrome

Anatomical Context for Hypotrichosis-Deafness Syndrome

MalaCards organs/tissues related to Hypotrichosis-Deafness Syndrome:

41
Skin

Publications for Hypotrichosis-Deafness Syndrome

Articles related to Hypotrichosis-Deafness Syndrome:

# Title Authors Year
1
Further delineation of the hypotrichosis-deafness syndrome. ( 16280295 )
2005

Variations for Hypotrichosis-Deafness Syndrome

Expression for Hypotrichosis-Deafness Syndrome

Search GEO for disease gene expression data for Hypotrichosis-Deafness Syndrome.

Pathways for Hypotrichosis-Deafness Syndrome

GO Terms for Hypotrichosis-Deafness Syndrome

Cellular components related to Hypotrichosis-Deafness Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.33 GJB2 GJB3 GJB4
2 gap junction GO:0005921 9.13 GJB2 GJB3 GJB4
3 connexin complex GO:0005922 8.8 GJB2 GJB3 GJB4

Biological processes related to Hypotrichosis-Deafness Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell communication GO:0007154 8.8 GJB2 GJB3 GJB4

Molecular functions related to Hypotrichosis-Deafness Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.62 GJB2 GJB3

Sources for Hypotrichosis-Deafness Syndrome

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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