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 58
Hypotrichosis-Hearing Loss Syndrome 58

Characteristics:

Orphanet epidemiological data:

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

Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 H90.5
Orphanet 58 ORPHA330029

Summaries for Hypotrichosis-Deafness Syndrome

MalaCards based summary : Hypotrichosis-Deafness Syndrome, also known as hypotrichosis-hearing loss syndrome, is related to hypotrichosis and erythrokeratodermia variabilis et progressiva 1. 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.

Related Diseases for Hypotrichosis-Deafness Syndrome

Diseases related to Hypotrichosis-Deafness Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 29.3 GJB4 GJB3 GJB2
2 erythrokeratodermia variabilis et progressiva 1 29.2 GJB4 GJB3 GJB2
3 branchiootic syndrome 1 10.0
4 erythrokeratodermia variabilis et progressiva 5 10.0
5 mucositis 10.0
6 sensorineural hearing loss 10.0
7 ainhum 10.0 GJB4 GJB2
8 deafness, autosomal recessive 9.8 GJB3 GJB2
9 keratosis 9.8 GJB3 GJB2
10 nonsyndromic hearing loss and deafness, dfnb1 9.8 GJB3 GJB2
11 nonsyndromic hearing loss 9.8 GJB3 GJB2
12 dfnb1 9.8 GJB3 GJB2
13 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 9.8 GJB4 GJB3
14 deafness, autosomal dominant 3b 9.8 GJB3 GJB2
15 deafness, autosomal dominant 2b 9.8 GJB3 GJB2
16 drug-induced hearing loss 9.8 GJB3 GJB2
17 deafness, autosomal recessive 91 9.8 GJB3 GJB2
18 deafness, autosomal dominant 2a 9.7 GJB3 GJB2
19 deafness, autosomal recessive 1b 9.7 GJB3 GJB2
20 vestibular disease 9.7 GJB3 GJB2
21 x-linked nonsyndromic deafness 9.7 GJB3 GJB2
22 deafness, autosomal dominant 9 9.7 GJB3 GJB2
23 hereditary hearing loss and deafness 9.7 GJB3 GJB2
24 deafness, x-linked 2 9.7 GJB3 GJB2
25 deafness, autosomal recessive 12 9.7 GJB3 GJB2
26 auditory system disease 9.7 GJB3 GJB2
27 inner ear disease 9.6 GJB3 GJB2
28 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.6 GJB3 GJB2
29 autosomal dominant nonsyndromic deafness 9.6 GJB3 GJB2
30 pseudoainhum 9.5 GJB4 GJB3 GJB2
31 hereditary lymphedema ic 9.5 GJB4 GJB3 GJB2
32 erythrokeratoderma 9.5 GJB4 GJB3 GJB2
33 deafness, autosomal dominant 3a 9.5 GJB4 GJB3 GJB2
34 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.5 GJB3 GJB2
35 knuckle pads 9.5 GJB4 GJB3 GJB2
36 bart-pumphrey syndrome 9.5 GJB4 GJB3 GJB2
37 keratoderma, palmoplantar, with deafness 9.5 GJB4 GJB3 GJB2
38 palmoplantar keratoderma and congenital alopecia 1 9.5 GJB4 GJB3 GJB2
39 clouston syndrome 9.5 GJB4 GJB3 GJB2
40 oculodentodigital dysplasia 9.5 GJB4 GJB3 GJB2
41 deafness, autosomal recessive 1a 9.5 GJB4 GJB3 GJB2
42 vohwinkel syndrome 9.5 GJB4 GJB3 GJB2
43 palmoplantar keratosis 9.5 GJB4 GJB3 GJB2
44 nevus, epidermal 9.5 GJB4 GJB3 GJB2
45 ectodermal dysplasia 9.5 GJB4 GJB3 GJB2
46 usher syndrome 9.4 GJB3 GJB2
47 skin disease 9.4 GJB4 GJB3 GJB2

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

Publications for Hypotrichosis-Deafness Syndrome

Articles related to Hypotrichosis-Deafness Syndrome:

# Title Authors PMID Year
1
Molecular analysis of connexin26 asparagine14 mutations associated with syndromic skin phenotypes. 61
21410767 2011
2
Further delineation of the hypotrichosis-deafness syndrome. 61
16280295 2005
3
Gap junction diseases of the skin. 61
15468169 2004

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.54 GJB4 GJB3 GJB2
2
Show member pathways
12.2 GJB4 GJB3 GJB2
3
Show member pathways
11.73 GJB3 GJB2
4
Show member pathways
11.62 GJB4 GJB3 GJB2
5
Show member pathways
10.79 GJB4 GJB3 GJB2

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 GJB4 GJB3 GJB2
2 gap junction GO:0005921 9.13 GJB4 GJB3 GJB2
3 connexin complex GO:0005922 8.8 GJB4 GJB3 GJB2

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.43 GJB2 GJB3 GJB4
2 cell-cell signaling GO:0007267 9.33 GJB2 GJB3 GJB4
3 gap junction-mediated intercellular transport GO:1990349 8.96 GJB2 GJB4
4 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 8.8 GJB4 GJB3 GJB2

Sources for Hypotrichosis-Deafness Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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