MCID: HYP525
MIFTS: 24

Hypotrichosis 2

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Hypotrichosis 2

MalaCards integrated aliases for Hypotrichosis 2:

Name: Hypotrichosis 2 57 12 75 29 6
Hypotrichosis Simplex of the Scalp 1 57 12 75
Hypt2 57 12 75
Htss1 57 12 75
Hypotrichosis Simplex of the Scalp 1; Htss1 57
Hypotrichosis Simplex of Scalp 1 13
Hypotrichosis Simplex of Scalp 73
Hypotrichosis, Spanish Type 57
Spanish Type Hypotrichosis 12
Hypotrichosis Spanish Type 75
Hypotrichosis, Type 2 40
Htss 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
hair loss begins in middle of first decade and progresses to complete baldness by third decade
male and females are equally affected


HPO:

32
hypotrichosis 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 146520
Disease Ontology 12 DOID:0110699
MedGen 42 C1840299
MeSH 44 D007039
SNOMED-CT via HPO 69 263681008
UMLS 73 C1840299

Summaries for Hypotrichosis 2

OMIM : 57 Hypotrichosis simplex can affect all body hair or be limited to the scalp. Usually patients with the scalp-limited form of hypotrichosis present with normal hair at birth; they experience a progressive, gradual loss of scalp hair beginning at the middle of the first decade and leading to almost complete loss of scalp hair by the third decade. A few sparse, fine, short hairs remain in some individuals. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. Light and electron microscopy of hairs from early hypotrichosis simplex revealed no structural changes, whereas hairs from patients with advanced hypotrichosis showed focal areas of defective cuticular structure. Men and women are equally affected (summary by Betz et al., 2000). For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see 605389. (146520)

MalaCards based summary : Hypotrichosis 2, also known as hypotrichosis simplex of the scalp 1, is related to hypotrichosis 5 and hypotrichosis 7. An important gene associated with Hypotrichosis 2 is CDSN (Corneodesmosin). Related phenotype is hypotrichosis of the scalp.

UniProtKB/Swiss-Prot : 75 Hypotrichosis 2: A condition characterized by the presence of less than the normal amount of hair. Affected individuals have normal hair in early childhood but experience progressive hair loss limited to the scalp beginning in the middle of the first decade and almost complete baldness by the third decade. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally.

Disease Ontology : 12 A hypotrichosis that has material basis in a autosomal dominant mutation of CDSN on chromosome 6p21.33.

Related Diseases for Hypotrichosis 2

Diseases in the Hypotrichosis family:

Hypotrichosis 2 Hypotrichosis 4
Hypotrichosis 8 Hypotrichosis 7
Hypotrichosis 1 Hypotrichosis 6
Hypotrichosis 5 Hypotrichosis 3
Hypotrichosis 9 Hypotrichosis 10
Hypotrichosis 11 Hypotrichosis 12
Hypotrichosis 13

Diseases related to Hypotrichosis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hypotrichosis 5 11.1
2 hypotrichosis 7 9.7
3 hypotrichosis 6 9.7
4 alopecia 9.7
5 hypotrichosis 9.7
6 peeling skin syndrome 9.2 CDSN PSORS1C1
7 psoriasis 9.0 CDSN PSORS1C1

Graphical network of the top 20 diseases related to Hypotrichosis 2:



Diseases related to Hypotrichosis 2

Symptoms & Phenotypes for Hypotrichosis 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Teeth:
normal teeth

Skin Nails Hair Hair:
normal scalp hair in early childhood
sparse scalp hair (slow, diffuse hair loss begins in middle of first decade)
hypotrichosis, scalp-limited
catagen and telogen hairs disappear in terminal stage
normal body hair
more
Skin Nails Hair Nails:
normal nails


Clinical features from OMIM:

146520

Human phenotypes related to Hypotrichosis 2:

32
# Description HPO Frequency HPO Source Accession
1 hypotrichosis of the scalp 32 HP:0004782

Drugs & Therapeutics for Hypotrichosis 2

Search Clinical Trials , NIH Clinical Center for Hypotrichosis 2

Genetic Tests for Hypotrichosis 2

Genetic tests related to Hypotrichosis 2:

# Genetic test Affiliating Genes
1 Hypotrichosis 2 29 CDSN

Anatomical Context for Hypotrichosis 2

Publications for Hypotrichosis 2

Articles related to Hypotrichosis 2:

# Title Authors Year
1
Hair shaft abnormalities in localized autosomal recessive hypotrichosis 2 and a review of other non-syndromic human alopecias. ( 21537821 )
2011

Variations for Hypotrichosis 2

ClinVar genetic disease variations for Hypotrichosis 2:

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

Expression for Hypotrichosis 2

Search GEO for disease gene expression data for Hypotrichosis 2.

Pathways for Hypotrichosis 2

GO Terms for Hypotrichosis 2

Sources for Hypotrichosis 2

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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