HYPT2
MCID: HYP525
MIFTS: 32

Hypotrichosis 2 (HYPT2)

Categories: Eye diseases, Genetic diseases, Oral diseases, Rare diseases

Aliases & Classifications for Hypotrichosis 2

MalaCards integrated aliases for Hypotrichosis 2:

Name: Hypotrichosis 2 58 12 76 30 6 15
Hypotrichosis Simplex of the Scalp 1 58 12 76
Hypt2 58 12 76
Htss1 58 12 76
Hypotrichosis Simplex of the Scalp 1; Htss1 58
Hypotrichosis Simplex of Scalp 1 13
Hypotrichosis Simplex of Scalp 74
Hypotrichosis, Spanish Type 58
Spanish Type Hypotrichosis 12
Hypotrichosis Spanish Type 76
Hypotrichosis, Type 2 41
Htss 58

Characteristics:

OMIM:

58
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:

33
hypotrichosis 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110699
OMIM 58 146520
MeSH 45 D007039
MedGen 43 C1840299
SNOMED-CT via HPO 70 263681008
UMLS 74 C1840299

Summaries for Hypotrichosis 2

OMIM : 58 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 guttate psoriasis. An important gene associated with Hypotrichosis 2 is CDSN (Corneodesmosin). Affiliated tissues include skin and eye, and related phenotypes are sparse scalp hair and hypotrichosis of the scalp

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

UniProtKB/Swiss-Prot : 76 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.

Related Diseases for Hypotrichosis 2

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



Diseases related to Hypotrichosis 2

Symptoms & Phenotypes for Hypotrichosis 2

Human phenotypes related to Hypotrichosis 2:

33
# Description HPO Frequency HPO Source Accession
1 sparse scalp hair 33 HP:0002209
2 hypotrichosis of the scalp 33 HP:0004782

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Nails:
normal nails

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
Head And Neck Teeth:
normal teeth

Clinical features from OMIM:

146520

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 30 CDSN

Anatomical Context for Hypotrichosis 2

MalaCards organs/tissues related to Hypotrichosis 2:

42
Skin, Eye

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
2
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. ( 12754508 )
2003
3
A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3. ( 10793007 )
2000
4
Hereditary hypotrichosis simplex of the scalp. ( 3652491 )
1987

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.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 2

Search GEO for disease gene expression data for Hypotrichosis 2.

Pathways for Hypotrichosis 2

GO Terms for Hypotrichosis 2

Biological processes related to Hypotrichosis 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 digestion GO:0007586 8.62 PRSS3 SST

Molecular functions related to Hypotrichosis 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lyase activity GO:0016829 8.8 CA14 CBSL ODC1

Sources for Hypotrichosis 2

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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