HHS
MCID: HYP137
MIFTS: 34

Hypotrichosis Simplex (HHS) malady

Genetic diseases, Rare diseases categories
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Summaries for Hypotrichosis Simplex

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NIH Rare Diseases:42 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 and hypotrichosis 11. An important gene associated with Hypotrichosis Simplex is APCDD1 (adenomatosis polyposis coli down-regulated 1), and among its related pathways is Wnt signaling network. The compounds LPA(P-16:0e/0:0) and LPA(18:0e/0:0) have been mentioned in the context of this disorder. Affiliated tissues include skin.

Aliases & Classifications for Hypotrichosis Simplex

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Hypotrichosis Simplex, Aliases & Descriptions:

Name: Hypotrichosis Simplex 42 20 22 62
Hereditary Hypotrichosis Simplex 42 62
 
Hhs 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Related Diseases for Hypotrichosis Simplex

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Diseases related to Hypotrichosis Simplex via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1hypotrichosis31.4LPAR6, LIPH
2hypotrichosis 1130.7SNRPE
3hypotrichosis 210.4
4autosomal recessive hypotrichosis10.4
5hypogonadotropic hypogonadism 2 with or without anosmia10.2
6hypotrichosis 310.2
7hyperostosis-hyperphosphatemia syndrome10.2
8hemochromatosis10.1
9hyperphosphatemia10.1
10hyperostosis10.1
11isolated gonadotropin-releasing hormone deficiency10.1
12dyskeratosis congenita x-linked10.1
13dyskeratosis congenita, autosomal dominant 110.1
14hypogonadism, hypergonadotropic10.1
15dyskeratosis congenita, autosomal recessive 510.1
16holoprosencephaly10.1
17hypotrichosis 810.1
18hypotrichosis 110.1
19hepatitis9.9
20hiv-19.9
21hypertension9.9
22pancreatic cancer9.9
23hypogonadotropism9.9
24siderosis9.9
25breast cancer9.9
26epilepsy syndrome9.9
27hemiplegia9.9
28hypogonadism9.9
29malignant hypertension9.9
30pancreatitis9.9
31hyperphosphatemic familial tumoral calcinosis9.9
32hypogonadotropic hypogonadism 9 with or without anosmia9.9
33hypogonadotropic hypogonadism 13 with or without anosmia9.9
34hypogonadotropic hypogonadism 15 with or without anosmia9.9
35hypogonadotropic hypogonadism 4 with or without anosmia9.9
36hypogonadotropic hypogonadism 18 with or without anosmia9.9
37hypogonadotropic hypogonadism 7 without anosmia9.9
38hypogonadotropic hypogonadism 11 with or without anosmia9.9
39hypogonadotropic hypogonadism 17 with or without anosmia9.9
40hypogonadotropic hypogonadism 16 with or without anosmia9.9
41hypogonadotropic hypogonadism with or without anosmia9.9
42hypogonadotropic hypogonadism 20 with or without anosmia9.9
43hypogonadotropic hypogonadism 12 with or without anosmia9.9
44hypogonadotropic hypogonadism 5 with or without anosmia9.9
45hypogonadotropic hypogonadism 6 with or without anosmia9.9
46hypogonadotropic hypogonadism 14 with or without anosmia9.9
47hypogonadotropic hypogonadism 10 with or without anosmia9.9
48hypogonadotropic hypogonadism 19 with or without anosmia9.9
49hypogonadotropic hypogonadism 8 with or without anosmia9.9
50hypogonadotropic hypogonadism 3 with or without anosmia9.9

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



Diseases related to hypotrichosis simplex

Symptoms for Hypotrichosis Simplex

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Drugs & Therapeutics for Hypotrichosis Simplex

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Drug clinical trials:

Search ClinicalTrials for Hypotrichosis Simplex

Search 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 Simplex20 22

Anatomical Context for Hypotrichosis Simplex

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MalaCards organs/tissues related to Hypotrichosis Simplex:

32
Skin

Animal Models for Hypotrichosis Simplex or affiliated genes

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Publications for Hypotrichosis Simplex

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Articles related to Hypotrichosis Simplex:

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

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Pathways for genes affiliated with Hypotrichosis Simplex

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Pathways related to Hypotrichosis Simplex according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6WNT3A, LRP5

Compounds for genes affiliated with Hypotrichosis Simplex

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Compounds related to Hypotrichosis Simplex according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1LPA(P-16:0e/0:0)2410.1LIPH, LPAR6
2LPA(18:0e/0:0)2410.1LPAR6, LIPH
3LPA(18:0/0:0)2410.0LIPH, LPAR6
4LPA(18:1(9Z)/0:0)2410.0LPAR6, LIPH
5LPA(18:2(9Z,12Z)/0:0)2410.0LPAR6, LIPH
6LPA(16:0/0:0)249.9LIPH, LPAR6
7LPA(0:0/16:0)249.9LIPH, LPAR6
8LPA(0:0/18:2(9Z,12Z))249.9LPAR6, LIPH
9LPA(0:0/18:0)249.8LPAR6, LIPH
10LPA(0:0/18:1(9Z))249.6LPAR6, LIPH

GO Terms for genes affiliated with Hypotrichosis Simplex

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Biological processes related to Hypotrichosis Simplex according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.6WNT3A, LRP5
2canonical Wnt signaling pathwayGO:0600709.3WNT3A, LRP5

Molecular functions related to Hypotrichosis Simplex according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Wnt-protein bindingGO:0171479.8APCDD1, LRP5

Products for genes affiliated with Hypotrichosis Simplex

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Sources for Hypotrichosis Simplex

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet