HYPT2
MCID: HYP525
MIFTS: 33

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 56 12 73 29 6 15
Hypotrichosis Simplex of the Scalp 1 56 12 73
Hypt2 56 12 73
Htss1 56 12 73
Hypotrichosis Simplex of the Scalp 1; Htss1 56
Hypotrichosis Simplex of Scalp 1 13
Hypotrichosis Simplex of Scalp 71
Hypotrichosis, Spanish Type 56
Spanish Type Hypotrichosis 12
Hypotrichosis Spanish Type 73
Hypotrichosis, Type 2 39
Htss 56

Characteristics:

OMIM:

56
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:

31
hypotrichosis 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110699
OMIM 56 146520
OMIM Phenotypic Series 56 PS605389
MeSH 43 D007039
MedGen 41 C1840299
SNOMED-CT via HPO 68 263681008
UMLS 71 C1840299

Summaries for Hypotrichosis 2

OMIM : 56 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 and hypotrichosis 5. An important gene associated with Hypotrichosis 2 is CDSN (Corneodesmosin), and among its related pathways/superpathways is Hematopoietic Stem Cell Differentiation. The drugs Dasatinib and Quercetin have been mentioned in the context of this disorder. 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 : 73 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:

31
# Description HPO Frequency HPO Source Accession
1 sparse scalp hair 31 HP:0002209
2 hypotrichosis of the scalp 31 HP:0004782

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Hypotrichosis 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.32 CTCF DHPS FSCN1 GATA1 HSPG2 KLF1

Drugs & Therapeutics for Hypotrichosis 2

Drugs for Hypotrichosis 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dasatinib Approved, Investigational 302962-49-8 3062316
2
Quercetin Experimental, Investigational 117-39-5 5280343
3 Protective Agents
4 Protein Kinase Inhibitors
5 Antioxidants

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Hematopoietic Stem Cell Transplant Survivors Study (HTSS Study) Recruiting NCT02652052 Quercetin;Dasatinib

Search 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 PMID Year
1
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. 6 56
12754508 2003
2
A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3. 6 56
10793007 2000
3
Hereditary hypotrichosis simplex of the scalp. 56 6
3652491 1987
4
Hereditary hypotrichosis of the scalp. 56
2063912 1991
5
Familial hypotrichosis of the scalp. Autosomal dominant inheritance in four generations. 56
1681656 1991
6
Hereditary hypotrichosis simplex of the scalp. Evidence for autosomal dominant inheritance. 56
4141628 1974
7
Hair shaft abnormalities in localized autosomal recessive hypotrichosis 2 and a review of other non-syndromic human alopecias. 61
21537821 2011

Variations for Hypotrichosis 2

ClinVar genetic disease variations for Hypotrichosis 2:

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 2

Search GEO for disease gene expression data for Hypotrichosis 2.

Pathways for Hypotrichosis 2

Pathways related to Hypotrichosis 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.48 NFE2 KLF1 GATA1

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 epithelial structure maintenance GO:0010669 8.96 LDB2 LDB1
2 regulation of kinase activity GO:0043549 8.62 LDB2 LDB1

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

# Name GO ID Score Top Affiliating Genes
1 enhancer sequence-specific DNA binding GO:0001158 8.96 LDB1 GATA1
2 LIM domain binding GO:0030274 8.62 LDB2 LDB1

Sources for Hypotrichosis 2

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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