HHS
MCID: HYP137
MIFTS: 33

Hypotrichosis Simplex (HHS) malady

Genetic diseases, Rare diseases categories

Summaries for Hypotrichosis Simplex

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44NIH Rare Diseases, 34MalaCards
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NIH Rare Diseases:44 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: 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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44NIH Rare Diseases, 21GeneTests, 23GTR, 63UMLS
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Classifications:

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


Aliases & Descriptions:

hypotrichosis simplex 44 21 23 63
hereditary hypotrichosis simplex 44
hhs 44


Related Diseases for Hypotrichosis Simplex

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18GeneCards, 19GeneDecks
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Diseases related to Hypotrichosis Simplex via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1hypotrichosis31.2LPAR6, LIPH
2hypotrichosis 1130.5SNRPE
3hypotrichosis 210.4
4autosomal recessive hypotrichosis10.3
5hypogonadotropic hypogonadism 2 with or without anosmia10.2
6hypotrichosis 310.2
7hemochromatosis10.1
8isolated gonadotropin-releasing hormone deficiency10.1
9dyskeratosis congenita x-linked10.1
10dyskeratosis congenita, autosomal dominant 110.1
11hypogonadism, hypergonadotropic10.1
12dyskeratosis congenita, autosomal recessive 510.1
13holoprosencephaly10.1
14hypotrichosis 810.1
15hypertelorism, preauricular sinus, punctal pits, and deafness10.1
16hypotrichosis 110.1
17siderosis9.9
18hypogonadotropism9.9
19basal cell carcinoma9.9
20breast cancer9.9
21epilepsy syndrome9.9
22hemiplegia9.9
23hepatitis9.9
24hypertension9.9
25hypogonadism9.9
26malignant hypertension9.9
27hyperostosis-hyperphosphatemia syndrome9.9
28hyperphosphatemic familial tumoral calcinosis9.9
29hypogonadotropic hypogonadism 9 with or without anosmia9.9
30hiv-19.9
31hypogonadotropic hypogonadism 13 with or without anosmia9.9
32hypogonadotropic hypogonadism 15 with or without anosmia9.9
33hypogonadotropic hypogonadism 4 with or without anosmia9.9
34hypogonadotropic hypogonadism 18 with or without anosmia9.9
35hypogonadotropic hypogonadism 7 with or without anosmia9.9
36hypogonadotropic hypogonadism 11 with or without anosmia9.9
37hypogonadotropic hypogonadism 17 with or without anosmia9.9
38hypogonadotropic hypogonadism 16 with or without anosmia9.9
39hypogonadotropic hypogonadism 20 with or without anosmia9.9
40hypogonadotropic hypogonadism 12 with or without anosmia9.9
41hypogonadotropic hypogonadism 5 with or without anosmia9.9
42hypogonadotropic hypogonadism 6 with or without anosmia9.9
43hypogonadotropic hypogonadism 14 with or without anosmia9.9
44hypogonadotropic hypogonadism 10 with or without anosmia9.9
45hypogonadotropic hypogonadism 19 with or without anosmia9.9
46hypogonadotropic hypogonadism 8 with or without anosmia9.9
47hypogonadotropic hypogonadism 3 with or without anosmia9.9
48hypogonadotropic hypogonadism 21 with 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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Genetic Tests for Hypotrichosis Simplex

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21GeneTests, 23GTR
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Genetic tests related to Hypotrichosis Simplex:

id Genetic test Affiliating Genes
1 Hypotrichosis Simplex21 23

Anatomical Context for Hypotrichosis Simplex

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34MalaCards
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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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Publications for Hypotrichosis Simplex

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53PubMed
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Articles related to Hypotrichosis Simplex:

(show all 28)
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
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
7
Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex. (21412954)
2011
8
A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12 approximately 12.3 in a Chinese family. (19751230)
2010
9
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. (20393562)
2010
10
In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth. (19536142)
2009
11
Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair. (19766349)
2009
12
A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families. (18820939)
2009
13
Involvement of receptor P2Y5 and its ligand LPA in hypotrichosis simplex and autosomal recessive wooly hair syndrome]. (19061667)
2008
14
Hypotrichosis simplex of the scalp. (17958879)
2007
15
A case of hereditary hypotrichosis simplex. (16987285)
2006
16
Contiguous gene syndrome of holoprosencephaly and hypotrichosis simplex: association with an 18p11.3 deletion. (17001671)
2006
17
A non-sense mutation in the corneodesmosin gene in a Mexican family with hypotrichosis simplex of the scalp. (16307662)
2005
18
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. (12754508)
2003
19
Hereditary hypotrichosis simplex of the scalp. (11994181)
2002
20
Hereditary hypotrichosis simplex: report of a family. (12472539)
2002
21
Guess what! Hypotrichosis simplex. (11458928)
2001
22
An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family. (10878665)
2000
23
A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3. (10793007)
2000
24
A sporadic case of congenital hypotrichosis simplex of the scalp: difficulties in diagnosis and classification. (10469417)
1999
25
Hereditary hypotrichosis simplex. (9621144)
1998
26
Hereditary hypotrichosis simplex of the scalp. (8520061)
1995
27
Hereditary hypotrichosis simplex of the scalp. (3652491)
1987
28
Hereditary hypotrichosis simplex of the scalp. Evidence for autosomal dominant inheritance. (4141628)
1974

Variations for Hypotrichosis Simplex

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Hypotrichosis Simplex:

1
id Gene Name Type Significance SNP ID Assembly Location
1APCDD1NM_153000.4(APCDD1): c.26T> G (p.Leu9Arg)single nucleotide variantPathogenicrs267606659GRCh37Chr 18, 10455004: 10455004

Expression for genes affiliated with Hypotrichosis Simplex

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hypotrichosis Simplex

Search GEO for disease gene expression data for Hypotrichosis Simplex.

Pathways for genes affiliated with Hypotrichosis Simplex

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51PathCards, 39NCBI BioSystems Database
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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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25HMDB
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Compounds related to Hypotrichosis Simplex according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1LPA(P-16:0e/0:0)2510.1LIPH, LPAR6
2LPA(18:0e/0:0)2510.1LPAR6, LIPH
3LPA(18:0/0:0)2510.0LIPH, LPAR6
4LPA(18:1(9Z)/0:0)2510.0LPAR6, LIPH
5LPA(18:2(9Z,12Z)/0:0)2510.0LPAR6, LIPH
6LPA(16:0/0:0)259.9LIPH, LPAR6
7LPA(0:0/16:0)259.9LIPH, LPAR6
8LPA(0:0/18:2(9Z,12Z))259.9LPAR6, LIPH
9LPA(0:0/18:0)259.8LPAR6, LIPH
10LPA(0:0/18:1(9Z))259.6LPAR6, LIPH

GO Terms for genes affiliated with Hypotrichosis Simplex

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17Gene Ontology
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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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet