HHS
MCID: HYP137
MIFTS: 22

Hypotrichosis Simplex (HHS) malady

Summaries for Hypotrichosis Simplex

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42NIH Rare Diseases, 46OMIM, 32MalaCards
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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: Hypotrichosis Simplex, also known as hereditary hypotrichosis simplex, is related to hypotrichosis and hypotrichosis simplex of scalp 1. An important gene associated with Hypotrichosis Simplex is APCDD1 (adenomatosis polyposis coli down-regulated 1), and among its related pathways is Wnt signaling network.

Description from OMIM:46 605389

Aliases & Classifications for Hypotrichosis Simplex

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 60UMLS
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Aliases & Descriptions:

hypotrichosis simplex 42 20 22 46 60
hereditary hypotrichosis simplex 42
hhs 42


Related Diseases for Hypotrichosis Simplex

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

(show all 46)
idRelated DiseaseScoreTop Affiliating Genes
1hypotrichosis31.1LIPH, LPAR6
2hypotrichosis simplex of scalp 110.5
3hypotrichosis simplex of the scalp 210.4
4hypotrichosis 1110.3
5hypogonadotropic hypogonadism 2 with or without anosmia10.2
6hemochromatosis10.0
7isolated gonadotropin-releasing hormone deficiency10.0
8dyskeratosis congenita x-linked10.0
9dyskeratosis congenita, autosomal dominant 110.0
10hypogonadism, hypergonadotropic10.0
11dyskeratosis congenita, autosomal recessive 510.0
12holoprosencephaly10.0
13hypotrichosis 810.0
14hypertelorism, preauricular sinus, punctal pits, and deafness10.0
15siderosis9.9
16hypogonadotropism9.9
17basal cell carcinoma9.9
18breast cancer9.9
19epilepsy syndrome9.9
20hemiplegia9.9
21hepatitis9.9
22hypertension9.9
23hypogonadism9.9
24liver cirrhosis9.9
25malignant hypertension9.9
26hyperostosis-hyperphosphatemia syndrome9.9
27hyperphosphatemic familial tumoral calcinosis9.9
28hypogonadotropic hypogonadism 9 with or without anosmia9.9
29hypogonadotropic hypogonadism 13 with or without anosmia9.9
30hypogonadotropic hypogonadism 15 with or without anosmia9.9
31hypogonadotropic hypogonadism 4 with or without anosmia9.9
32hypogonadotropic hypogonadism 18 with or without anosmia9.9
33hypogonadotropic hypogonadism 7 with or without anosmia9.9
34hypogonadotropic hypogonadism 11 with or without anosmia9.9
35hypogonadotropic hypogonadism 17 with or without anosmia9.9
36hypogonadotropic hypogonadism 16 with or without anosmia9.9
37hypogonadotropic hypogonadism 20 with or without anosmia9.9
38hypogonadotropic hypogonadism 12 with or without anosmia9.9
39hypogonadotropic hypogonadism 5 with or without anosmia9.9
40hypogonadotropic hypogonadism 6 with or without anosmia9.9
41hypogonadotropic hypogonadism 14 with or without anosmia9.9
42hypogonadotropic hypogonadism 10 with or without anosmia9.9
43hypogonadotropic hypogonadism 19 with or without anosmia9.9
44hypogonadotropic hypogonadism 8 with or without anosmia9.9
45hypogonadotropic hypogonadism 3 with or without anosmia9.9
46hypogonadotropic 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

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Sources:
46OMIM
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Clinical features from OMIM:

605389

Drugs & Therapeutics for Hypotrichosis Simplex

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Sources:
5CenterWatch, 41NIH 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

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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

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Animal Models for Hypotrichosis Simplex or affiliated genes

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Publications for Hypotrichosis Simplex

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Genetic Variations for Hypotrichosis Simplex

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Hypotrichosis Simplex:

62
id Symbol AA change Variation ID SNP ID
1APCDD1p.Leu9ArgVAR_063497

Expression for genes affiliated with Hypotrichosis Simplex

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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

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Sources:
37NCBI 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

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GO Terms for genes affiliated with Hypotrichosis Simplex

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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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  • Antibodies
  • Proteins
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  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet