MCID: HYP641
MIFTS: 16

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 60
Hereditary Hypotrichosis Simplex of the Scalp 60

Characteristics:

Orphanet epidemiological data:

60
hypotrichosis simplex of the scalp
Inheritance: Autosomal dominant; Age of onset: Childhood;

Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

ICD10 via Orphanet 35 L65.8
UMLS via Orphanet 75 C1840299
Orphanet 60 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. 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:

# Related Disease Score Top Affiliating Genes
1 hypotrichosis 30.2 CDSN KRT74
2 hypotrichosis 3 11.8
3 hypotrichosis 2 11.8
4 hypotrichosis simplex 10.7

Symptoms & Phenotypes for Hypotrichosis Simplex of the Scalp

Drugs & Therapeutics for Hypotrichosis Simplex of the Scalp

Search Clinical Trials , 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:

42
Skin

Publications for Hypotrichosis Simplex of the Scalp

Articles related to Hypotrichosis Simplex of the Scalp:

(show all 13)
# Title Authors Year
1
Hereditary hypotrichosis simplex of the scalp. ( 28873114 )
2017
2
Hereditary hypotrichosis simplex of the scalp. ( 25484430 )
2014
3
A novel nonsense mutation in the CDSN gene underlying hypotrichosis simplex of the scalp in a Chinese family. ( 23746069 )
2014
4
[Clinical investigation of a Chinese family with hypotrichosis simplex of the scalp and mutational analysis of CDSN gene]. ( 22875505 )
2012
5
Hypotrichosis simplex of the scalp. ( 17958879 )
2007
6
A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp. ( 16307662 )
2005
7
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. ( 12754508 )
2003
8
Hereditary hypotrichosis simplex of the scalp. ( 11994181 )
2002
9
A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3. ( 10793007 )
2000
10
A sporadic case of congenital hypotrichosis simplex of the scalp: difficulties in diagnosis and classification. ( 10469417 )
1999
11
Hereditary hypotrichosis simplex of the scalp. ( 8520061 )
1995
12
Hereditary hypotrichosis simplex of the scalp. ( 3652491 )
1987
13
Hereditary hypotrichosis simplex of the scalp. Evidence for autosomal dominant inheritance. ( 4141628 )
1974

Variations for Hypotrichosis Simplex of the Scalp

ClinVar genetic disease variations for Hypotrichosis Simplex of the Scalp:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CDSN NM_001264.4(CDSN): c.598C> T (p.Gln200Ter) single nucleotide variant Pathogenic rs121917820 GRCh37 Chromosome 6, 31084794: 31084794
2 CDSN NM_001264.4(CDSN): c.598C> T (p.Gln200Ter) single nucleotide variant Pathogenic rs121917820 GRCh38 Chromosome 6, 31117017: 31117017
3 CDSN NM_001264.4(CDSN): c.643C> T (p.Gln215Ter) single nucleotide variant Pathogenic rs121917819 GRCh37 Chromosome 6, 31084749: 31084749
4 CDSN NM_001264.4(CDSN): c.643C> T (p.Gln215Ter) single nucleotide variant Pathogenic rs121917819 GRCh38 Chromosome 6, 31116972: 31116972

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 CDSN KRT74
2
Show member pathways
11.08 CDSN KRT74

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 CDSN KRT74

Sources for Hypotrichosis Simplex of the Scalp

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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