MCID: HYP137
MIFTS: 34

Hypotrichosis Simplex malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hypotrichosis Simplex

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Sources:
46NIH Rare Diseases, 23GeneTests, 52Orphanet, 25GTR, 12diseasecard, 66UMLS, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet
See all MalaCards sources

Aliases & Descriptions for Hypotrichosis Simplex:

Name: Hypotrichosis Simplex 46 23 52 25 12 66
Hereditary Hypotrichosis Simplex 52
 
Hhs 46

Characteristics:

Orphanet epidemiological data:

52
hypotrichosis simplex:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy

Classifications:

Orphanet: 52 
Rare skin diseases


External Ids:

Orphanet52 ORPHA55654
UMLS via Orphanet67 C1854310
ICD10 via Orphanet29 L65.8
MESH via Orphanet38 C537160

Summaries for Hypotrichosis Simplex

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NIH Rare Diseases:46 Hypotrichosis simplex is a rare form of hereditary hair loss without other abnormalities. affected individuals typically show normal hair at birth, but experience hair loss and thinning of the hair shaft that starts during early childhood and progresses with age. hypotrichosis simplex can be divided into 2 forms: the scalp-limited form and the generalized form, in which all body hair is affected. the progressive thinning of the hair shaft is a typical feature of androgenetic alopecia. hypotrichosis simplex can be inherited either as an autosomal dominant or autosomal recessive trait. some cases are caused by mutations in the apcdd1 gene on chromosome 18p11. to date, there is no treatment for this condition. last updated: 7/12/2011

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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Symptoms:

 52
  • sparse eyebrow
  • sparse eyelashes
  • alopecia
  • sparse body hair
  • hypotrichosis of the scalp
  • sparse hair

HPO human phenotypes related to Hypotrichosis Simplex:

(show all 7)
id Description Frequency HPO Source Accession
1 abnormality of the eyelashes hallmark (90%) HP:0000499
2 alopecia hallmark (90%) HP:0001596
3 aplasia/hypoplasia of the eyebrow hallmark (90%) HP:0100840
4 woolly hair typical (50%) HP:0002224
5 congenital, generalized hypertrichosis typical (50%) HP:0004540
6 hyperkeratosis occasional (7.5%) HP:0000962
7 pruritus occasional (7.5%) HP:0000989

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 Simplex25 23

Anatomical Context for Hypotrichosis Simplex

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MalaCards organs/tissues related to Hypotrichosis Simplex:

34
Skin

Animal Models for Hypotrichosis Simplex or affiliated genes

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MGI Mouse Phenotypes related to Hypotrichosis Simplex:

39
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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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:19908519.3LRP5, WNT3A

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

idNameGO IDScoreTop Affiliating Genes
1keratinocyte differentiationGO:00302169.8CDSN, DSG4
2beta-catenin destruction complex disassemblyGO:19048869.5LRP5, WNT3A
3hair follicle developmentGO:00019429.3APCDD1, DSG4
4anterior/posterior pattern specificationGO:00099529.3LRP5, WNT3A
5canonical Wnt signaling pathwayGO:00600709.1LRP5, 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet