MCID: HYP641
MIFTS: 20

Hypotrichosis Simplex of the Scalp

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Hypotrichosis Simplex of the Scalp

MalaCards integrated aliases for Hypotrichosis Simplex of the Scalp:

Name: Hypotrichosis Simplex of the Scalp 58
Hereditary Hypotrichosis Simplex of the Scalp 58

Characteristics:

Orphanet epidemiological data:

58
hypotrichosis simplex of the scalp
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

ICD10 via Orphanet 33 L65.8
UMLS via Orphanet 72 C1840299
Orphanet 58 ORPHA90368

Summaries for Hypotrichosis Simplex of the Scalp

MalaCards based summary : Hypotrichosis Simplex of the Scalp, also known as hereditary hypotrichosis simplex of the scalp, is related to hypotrichosis and hypotrichosis 3. An important gene associated with Hypotrichosis Simplex of the Scalp is CDSN (Corneodesmosin), and among its related pathways/superpathways are Developmental Biology and Keratinization. The drugs Anti-Bacterial Agents and Gentamicins have been mentioned in the context of this disorder. Affiliated tissues include skin.

Related Diseases for Hypotrichosis Simplex of the Scalp

Diseases related to Hypotrichosis Simplex of the Scalp via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 30.4 KRT74 CDSN
2 hypotrichosis 3 12.3
3 hypotrichosis 2 12.2
4 hypotrichosis simplex 10.7
5 alopecia 10.4
6 ectodermal dysplasia 10.1
7 skin disease 10.1
8 erythrokeratoderma ''en cocardes'' 10.1
9 rare genetic skin disease 10.1
10 hypotrichosis 8 9.5 KRT74 CDSN
11 atrichia with papular lesions 9.5 KRT74 CDSN
12 familial woolly hair syndrome 9.5 KRT74 CDSN
13 monilethrix 9.4 KRT74 CDSN
14 hair disease 9.2 KRT74 CDSN

Graphical network of the top 20 diseases related to Hypotrichosis Simplex of the Scalp:



Diseases related to Hypotrichosis Simplex of the Scalp

Symptoms & Phenotypes for Hypotrichosis Simplex of the Scalp

Drugs & Therapeutics for Hypotrichosis Simplex of the Scalp

Drugs for Hypotrichosis Simplex of the Scalp (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Bacterial Agents Phase 2
2 Gentamicins Phase 2
3 Anti-Infective Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Efficacy of Topical Gentamycin for the Treatment of Hereditary Hypotrichosis Simplex Caused by Heterozygous Nonsense Mutations in CDSN Encoding Corneodesmosin Unknown status NCT03492866 Phase 2 Gentamicin Sulfate

Search NIH Clinical Center for Hypotrichosis Simplex of the Scalp

Genetic Tests for Hypotrichosis Simplex of the Scalp

Anatomical Context for Hypotrichosis Simplex of the Scalp

MalaCards organs/tissues related to Hypotrichosis Simplex of the Scalp:

40
Skin

Publications for Hypotrichosis Simplex of the Scalp

Articles related to Hypotrichosis Simplex of the Scalp:

(show all 20)
# Title Authors PMID Year
1
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. 6 61
12754508 2003
2
A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3. 6 61
10793007 2000
3
Hereditary hypotrichosis simplex of the scalp. 61 6
3652491 1987
4
Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families. 6
21188418 2011
5
Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp. 61
31663161 2020
6
Treatment of hereditary hypotrichosis simplex of the scalp with topical gentamicin. 61
31746457 2019
7
Hereditary hypotrichosis simplex of the scalp. 61
28873114 2017
8
Hereditary hypotrichosis simplex of the scalp. 61
25484430 2014
9
A novel nonsense mutation in the CDSN gene underlying hypotrichosis simplex of the scalp in a Chinese family. 61
23746069 2014
10
[Clinical investigation of a Chinese family with hypotrichosis simplex of the scalp and mutational analysis of CDSN gene]. 61
22875505 2012
11
Corneodesmosomes and corneodesmosin: from the stratum corneum cohesion to the pathophysiology of genodermatoses. 61
21628128 2011
12
A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin. 61
20448140 2010
13
Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction. 61
19596793 2009
14
Hypotrichosis simplex of the scalp. 61
17958879 2007
15
A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp. 61
16307662 2005
16
Hereditary hypotrichosis simplex: report of a family. 61
12472539 2002
17
Hereditary hypotrichosis simplex of the scalp. 61
11994181 2002
18
A sporadic case of congenital hypotrichosis simplex of the scalp: difficulties in diagnosis and classification. 61
10469417 1999
19
Hereditary hypotrichosis simplex of the scalp. 61
8520061 1995
20
Hereditary hypotrichosis simplex of the scalp. Evidence for autosomal dominant inheritance. 61
4141628 1974

Variations for Hypotrichosis Simplex of the Scalp

ClinVar genetic disease variations for Hypotrichosis Simplex of the Scalp:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CDSN NM_001264.5(CDSN):c.643C>T (p.Gln215Ter)SNV Pathogenic 6997 rs121917819 6:31084749-31084749 6:31116972-31116972
2 CDSN NM_001264.5(CDSN):c.598C>T (p.Gln200Ter)SNV Pathogenic 6998 rs121917820 6:31084794-31084794 6:31117017-31117017

Expression for Hypotrichosis Simplex of the Scalp

Search GEO for disease gene expression data for Hypotrichosis Simplex of the Scalp.

Pathways for Hypotrichosis Simplex of the Scalp

Pathways related to Hypotrichosis Simplex of the Scalp according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.17 KRT74 CDSN
2
Show member pathways
11.08 KRT74 CDSN

GO Terms for Hypotrichosis Simplex of the Scalp

Biological processes related to Hypotrichosis Simplex of the Scalp according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cornification GO:0070268 8.62 KRT74 CDSN

Sources for Hypotrichosis Simplex of the Scalp

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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