HHS
MCID: HYP137
MIFTS: 26

Hypotrichosis Simplex (HHS) malady

Summaries for Hypotrichosis Simplex

Sources:
43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 simplex of scalp 1 and autosomal recessive hypotrichosis. An important gene associated with Hypotrichosis Simplex is APCDD1 (adenomatosis polyposis coli down-regulated 1), and among its related pathways is Wnt signaling network. Affiliated tissues include skin.

Description from OMIM:47 605389

Aliases & Classifications for Hypotrichosis Simplex

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 61UMLS
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Aliases & Descriptions:

hypotrichosis simplex 43 20 22 47 61
hereditary hypotrichosis simplex 43
hhs 43


Related Diseases for Hypotrichosis Simplex

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Hypotrichosis Simplex via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 42)
idRelated DiseaseScoreTop Affiliating Genes
1hypotrichosis simplex of scalp 110.5
2autosomal recessive hypotrichosis10.4
3hypotrichosis simplex of the scalp 210.4
4hypotrichosis 1110.3
5hypogonadotropic hypogonadism 2 with or without anosmia10.2
6woolly hair, autosomal recessive10.2
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
1418p deletion syndrome10.1
15hypotrichosis 810.1
16hypertelorism, preauricular sinus, punctal pits, and deafness10.1
17holoprosencephaly-110.1
18hypotrichosis10.0LPAR6, LIPH
19hepatitis c9.9
20siderosis9.9
21basal cell carcinoma9.9
22hyperostosis-hyperphosphatemia syndrome9.9
23hyperphosphatemic familial tumoral calcinosis9.9
24hypogonadotropic hypogonadism 9 with or without anosmia9.9
25hypogonadotropic hypogonadism 13 with or without anosmia9.9
26hypogonadotropic hypogonadism 15 with or without anosmia9.9
27hypogonadotropic hypogonadism 4 with or without anosmia9.9
28hypogonadotropic hypogonadism 18 with or without anosmia9.9
29hypogonadotropic hypogonadism 7 with or without anosmia9.9
30hypogonadotropic hypogonadism 11 with or without anosmia9.9
31hypogonadotropic hypogonadism 17 with or without anosmia9.9
32hypogonadotropic hypogonadism 16 with or without anosmia9.9
33hypogonadotropic hypogonadism 20 with or without anosmia9.9
34hypogonadotropic hypogonadism 12 with or without anosmia9.9
35hypogonadotropic hypogonadism 5 with or without anosmia9.9
36hypogonadotropic hypogonadism 6 with or without anosmia9.9
37hypogonadotropic hypogonadism 14 with or without anosmia9.9
38hypogonadotropic hypogonadism 10 with or without anosmia9.9
39hypogonadotropic hypogonadism 19 with or without anosmia9.9
40hypogonadotropic hypogonadism 8 with or without anosmia9.9
41hypogonadotropic hypogonadism 3 with or without anosmia9.9
42hypogonadotropic hypogonadism 21 with anosmia9.9

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



Diseases related to hypotrichosis simplex

Clinical Features for Hypotrichosis Simplex

Sources:
47OMIM
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Clinical features from OMIM:

605389

Drugs & Therapeutics for Hypotrichosis Simplex

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Hypotrichosis Simplex

Drug clinical trials:

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Search NIH Clinical Center for Hypotrichosis Simplex

Search CenterWatch for Hypotrichosis Simplex

Genetic Tests for Hypotrichosis Simplex

Sources:
20GeneTests, 22GTR
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Genetic tests related to Hypotrichosis Simplex:

id Genetic test Affiliating Genes
1 Hypotrichosis Simplex20 22

Anatomical Context for Hypotrichosis Simplex

Sources:
33MalaCards
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MalaCards organs/tissues related to Hypotrichosis Simplex:

33
Skin

Animal Models for Hypotrichosis Simplex or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Hypotrichosis Simplex

Sources:
51PubMed
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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

Genetic Variations for Hypotrichosis Simplex

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Hypotrichosis Simplex:

63
id Symbol AA change Variation SNP ID
1APCDD1p.Leu9ArgVAR_063497

Expression for genes affiliated with Hypotrichosis Simplex

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Sources:
38NCBI BioSystems Database
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Pathways related to Hypotrichosis Simplex according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7LRP5, WNT3A

Compounds for genes affiliated with Hypotrichosis Simplex

GO Terms for genes affiliated with Hypotrichosis Simplex

Sources:
16Gene Ontology
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Molecular functions related to Hypotrichosis Simplex according to GeneCards/GeneDecks:

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

Products for genes affiliated with Hypotrichosis Simplex

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Sources for Hypotrichosis Simplex

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet