MCID: HYP137
MIFTS: 32

Hypotrichosis Simplex malady

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Hypotrichosis Simplex

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Sources:
12diseasecard, 26GTR, 30ICD10 via Orphanet, 39MESH via Orphanet, 47NIH Rare Diseases, 53Orphanet, 67UMLS, 68UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Hypotrichosis Simplex:

Name: Hypotrichosis Simplex 47 53 26 12 67
Hereditary Hypotrichosis Simplex 53
 
Hhs 47

Characteristics:

Orphanet epidemiological data:

53
hypotrichosis simplex:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy

Classifications:

Orphanet: 53 
Rare skin diseases


External Ids:

Orphanet53 ORPHA55654
MESH via Orphanet39 C537160
ICD10 via Orphanet30 L65.8
UMLS via Orphanet68 C1854310

Summaries for Hypotrichosis Simplex

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MalaCards based summary: Hypotrichosis Simplex, also known as hereditary hypotrichosis simplex, is related to hypotrichosis simplex of the scalp and hypotrichosis 2, and has symptoms including abnormality of the eyelashes, alopecia and aplasia/hypoplasia of the eyebrow. An important gene associated with Hypotrichosis Simplex is APCDD1 (APC Down-Regulated 1), and among its related pathways are Regulation of FZD by ubiquitination and Wnt signaling network. Affiliated tissues include skin, and related mouse phenotype pigmentation.

Related Diseases for Hypotrichosis Simplex

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Graphical network of diseases related to Hypotrichosis Simplex:



Diseases related to hypotrichosis simplex

Symptoms for Hypotrichosis Simplex

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Human phenotypes related to Hypotrichosis Simplex:

 63 53 (show all 12)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the eyelashes63 hallmark (90%) HP:0000499
2 alopecia63 53 hallmark (90%) Very frequent (99-80%) HP:0001596
3 aplasia/hypoplasia of the eyebrow63 hallmark (90%) HP:0100840
4 woolly hair63 typical (50%) HP:0002224
5 congenital, generalized hypertrichosis63 typical (50%) HP:0004540
6 hyperkeratosis63 occasional (7.5%) HP:0000962
7 pruritus63 occasional (7.5%) HP:0000989
8 sparse eyebrow53 Very frequent (99-80%)
9 sparse eyelashes53 Very frequent (99-80%)
10 sparse body hair53 Very frequent (99-80%)
11 hypotrichosis of the scalp53 Very frequent (99-80%)
12 sparse hair53 Frequent (79-30%)

Drugs & Therapeutics for Hypotrichosis Simplex

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hypotrichosis Simplex

Genetic Tests for Hypotrichosis Simplex

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Genetic tests related to Hypotrichosis Simplex:

id Genetic test Affiliating Genes
1 Hypotrichosis Simplex26

Anatomical Context for Hypotrichosis Simplex

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MalaCards organs/tissues related to Hypotrichosis Simplex:

35
Skin

Animal Models for Hypotrichosis Simplex or affiliated genes

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MGI Mouse Phenotypes related to Hypotrichosis Simplex:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.8DSG4, LIPH, LRP5

Publications for Hypotrichosis Simplex

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Articles related to Hypotrichosis Simplex:

(show all 30)
idTitleAuthorsYear
1
Hereditary hypotrichosis simplex of the scalp. (25484430)
2014
2
A novel nonsense mutation in the CDSN gene underlying hypotrichosis simplex of the scalp in a Chinese family. (23746069)
2014
3
Homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient. (24354445)
2013
4
Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex. (23246290)
2013
5
A recurrent mutation in the APCDD1 gene responsible for hereditary hypotrichosis simplex in a large Chinese family. (22512811)
2012
6
Clinical investigation of a Chinese family with hypotrichosis simplex of the scalp and mutational analysis of CDSN gene]. (22875505)
2012
7
Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family. (25386265)
2011
8
Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex. (21412954)
2011
9
Mutations in two genes on chromosome 13 resulting in a complex hair and skin phenotype due to two rare genodermatoses: KLICK and autosomal recessive woolly hair/hypotrichosis simplex. (21275938)
2011
10
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. (20393562)
2010
11
A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12 approximately 12.3 in a Chinese family. (19751230)
2010
12
A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families. (18820939)
2009
13
In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth. (19536142)
2009
14
Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair. (19766349)
2009
15
Involvement of receptor P2Y5 and its ligand LPA in hypotrichosis simplex and autosomal recessive wooly hair syndrome]. (19061667)
2008
16
Hypotrichosis simplex of the scalp. (17958879)
2007
17
A case of hereditary hypotrichosis simplex. (16987285)
2006
18
Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: association with an 18p11.3 deletion. (17001671)
2006
19
A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp. (16307662)
2005
20
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. (12754508)
2003
21
Hereditary hypotrichosis simplex of the scalp. (11994181)
2002
22
Hereditary hypotrichosis simplex: report of a family. (12472539)
2002
23
Guess what! Hypotrichosis simplex. (11458928)
2001
24
An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family. (10878665)
2000
25
A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3. (10793007)
2000
26
A sporadic case of congenital hypotrichosis simplex of the scalp: difficulties in diagnosis and classification. (10469417)
1999
27
Hereditary hypotrichosis simplex. (9621144)
1998
28
Hereditary hypotrichosis simplex of the scalp. (8520061)
1995
29
Hereditary hypotrichosis simplex of the scalp. (3652491)
1987
30
Hereditary hypotrichosis simplex of the scalp. Evidence for autosomal dominant inheritance. (4141628)
1974

Variations for Hypotrichosis Simplex

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Clinvar genetic disease variations for Hypotrichosis Simplex:

5
id Gene Variation Type Significance SNP ID Assembly Location
1APCDD1NM_153000.4(APCDD1): c.26T> G (p.Leu9Arg)SNVPathogenicrs267606659GRCh37Chr 18, 10455004: 10455004

Expression for genes affiliated with Hypotrichosis Simplex

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Search GEO for disease gene expression data for Hypotrichosis Simplex.

Pathways for genes affiliated with Hypotrichosis Simplex

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GO Terms for genes affiliated with Hypotrichosis Simplex

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Cellular components related to Hypotrichosis Simplex according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1desmosomeGO:00300579.3CDSN, DSG4
2Wnt-Frizzled-LRP5/6 complexGO:19908519.2LRP5, WNT3A

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

idNameGO IDScoreTop Affiliating Genes
1keratinocyte differentiationGO:00302169.8CDSN, DSG4
2hair follicle developmentGO:00019429.5APCDD1, DSG4
3beta-catenin destruction complex disassemblyGO:19048869.5LRP5, WNT3A
4anterior/posterior pattern specificationGO:00099529.4LRP5, WNT3A
5canonical Wnt signaling pathwayGO:00600709.3LRP5, WNT3A
6Wnt signaling pathwayGO:00160558.8APCDD1, LRP5, WNT3A

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

idNameGO IDScoreTop Affiliating Genes
1Wnt-protein bindingGO:00171479.3APCDD1, LRP5

Sources for Hypotrichosis Simplex

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet