MCID: HYP137
MIFTS: 38

Hypotrichosis Simplex malady

Genetic diseases, Rare diseases, Skin diseases categories

Summaries for Hypotrichosis Simplex

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NIH Rare Diseases:41 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 simplex of the scalp, and has symptoms including abnormality of the eyelashes, alopecia and aplasia/hypoplasia of the eyebrow. 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(18:0e/0:0) and LPA(P-16:0e/0:0) have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotype pigmentation.

Aliases & Classifications for Hypotrichosis Simplex

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Sources:
41NIH Rare Diseases, 20GeneTests, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Hypotrichosis Simplex, Aliases & Descriptions:

Name: Hypotrichosis Simplex 41 20 47 22 60
Hereditary Hypotrichosis Simplex 41 47
 
Hhs 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Skin diseases
Orphanet: 47 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

47
hypotrichosis simplex:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

Orphanet47 55654
MESH via Orphanet34 C537160
ICD10 via Orphanet26 L65.8
UMLS via Orphanet61 C1854310

Related Diseases for Hypotrichosis Simplex

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

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1hypotrichosis30.9LPAR6, LIPH, DSG4
2hypotrichosis simplex of the scalp10.7
3hypotrichosis 210.4
4hypotrichosis 310.3
5hypogonadotropic hypogonadism 2 with or without anosmia10.2
6hypotrichosis 110.2
7hypotrichosis 1110.2SNRPE
8tumoral calcinosis, hyperphosphatemic, familial10.1
9dyskeratosis congenita, x-linked10.1
10hemochromatosis10.1
11dyskeratosis congenita, autosomal dominant 110.1
12dyskeratosis congenita, autosomal recessive 510.1
13hypogonadotropism10.1
14hyperphosphatemia10.1
15kallmann syndrome10.1
16hyperostosis10.1
17hypogonadism10.1
18isolated gonadotropin-releasing hormone deficiency10.1
19hypotrichosis 810.1
20holoprosencephaly10.1
21monilethrix10.1LIPH, DSG4
22hypogonadotropic hypogonadism 13 with or without anosmia9.9
23hypogonadotropic hypogonadism 15 with or without anosmia9.9
24breast cancer9.9
25hypogonadotropic hypogonadism 4 with or without anosmia9.9
26hypogonadotropic hypogonadism 18 with or without anosmia9.9
27hypogonadotropic hypogonadism 11 with or without anosmia9.9
28hypogonadotropic hypogonadism 17 with or without anosmia9.9
29hypogonadotropic hypogonadism 16 with or without anosmia9.9
30hypogonadotropic hypogonadism 20 with or without anosmia9.9
31hypogonadotropic hypogonadism 12 with or without anosmia9.9
32hypogonadotropic hypogonadism 5 with or without anosmia9.9
33hypogonadotropic hypogonadism 9 with or without anosmia9.9
34hypogonadotropic hypogonadism 6 with or without anosmia9.9
35hypogonadotropic hypogonadism 14 with or without anosmia9.9
36hypogonadotropic hypogonadism 10 with or without anosmia9.9
37hypogonadotropic hypogonadism 19 with or without anosmia9.9
38pancreatic cancer9.9
39hypogonadotropic hypogonadism 8 with or without anosmia9.9
40hypogonadotropic hypogonadism 3 with or without anosmia9.9
41hiv-19.9
42hypogonadotropic hypogonadism 7 without anosmia9.9
43hypogonadotropic hypogonadism with or without anosmia9.9
44hypogonadotropic hypogonadism 21 with anosmia9.9
45hepatitis9.9
46diabetic ketoacidosis9.9
47siderosis9.9
48basal cell carcinoma9.9
49epilepsy syndrome9.9
50hemiplegia9.9

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



Diseases related to hypotrichosis simplex

Symptoms for Hypotrichosis Simplex

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Symptoms:

 47 (show all 12)
  • absent/decreased/thin eyebrows
  • absent/decreased lashes
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • decreased body hair/axillar/pubic hairlessness
  • alopecia
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • lanugo
  • woolly/frizzy hair
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • follicular/erythematous/edematous papules/milium
  • pruritus/itching

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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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:

31
Skin

Animal Models for Hypotrichosis Simplex or affiliated genes

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MGI Mouse Phenotypes related to Hypotrichosis Simplex:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.4LIPH, DSG4, 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
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
9
Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex. (21412954)
2011
10
A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12 approximately 12.3 in a Chinese family. (19751230)
2010
11
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex. (20393562)
2010
12
In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth. (19536142)
2009
13
Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair. (19766349)
2009
14
A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families. (18820939)
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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Clinvar genetic disease variations for Hypotrichosis Simplex:

6 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_005767.5(LPAR6): c.463C> T (p.Gln155Ter)single nucleotide variantPathogenicrs121434306GRCh37Chr 13, 48986097: 48986097
2LPAR6LPAR6, 2-BP DEL, 373AAdeletionPathogenic
3LPAR6LPAR6, 4-BP INS, 69CATGinsertionPathogenic
4NM_005767.5(LPAR6): c.436G> A (p.Gly146Arg)single nucleotide variantPathogenicrs121434308GRCh37Chr 13, 48986124: 48986124
5NM_005767.5(LPAR6): c.565G> A (p.Glu189Lys)single nucleotide variantPathogenicrs121434309GRCh37Chr 13, 48985995: 48985995
6DSG4DSG4, EX5-8DELdeletionPathogenic
7DSG4DSG4, 1-BP DEL, 87GdeletionPathogenic
8DSG4NM_177986.3(DSG4): c.574T> C (p.Ser192Pro)single nucleotide variantPathogenicrs267606775GRCh37Chr 18, 28970675: 28970675
9DSG4DSG4, 1-BP INS, 2039TinsertionPathogenic
10DSG4DSG4, IVS3, G-T, +1single nucleotide variantPathogenic
11DSG4NM_177986.3(DSG4): c.800C> G (p.Pro267Arg)single nucleotide variantPathogenicrs267606776GRCh37Chr 18, 28971156: 28971156
12DSG4DSG4, 1-BP DEL, 763TdeletionPathogenic
13DSG4NM_177986.3(DSG4): c.865C> T (p.Arg289Ter)single nucleotide variantPathogenicrs267606777GRCh37Chr 18, 28972163: 28972163
14NM_005767.5(LPAR6): c.587C> T (p.Pro196Leu)single nucleotide variantPathogenicrs115596308GRCh37Chr 13, 48985973: 48985973
15APCDD1NM_153000.4(APCDD1): c.26T> G (p.Leu9Arg)single nucleotide variantPathogenicrs267606659GRCh37Chr 18, 10455004: 10455004
16LIPHLIPH, EX4 DELdeletionPathogenic
17LIPHLIPH, 5-BP DEL, NT346deletionPathogenic
18SNRPENM_003094.2(SNRPE): c.1A> G (p.Met1Val)single nucleotide variantPathogenicGRCh37Chr 1, 203830788: 203830788
19SNRPENM_003094.2(SNRPE): c.133G> A (p.Gly45Ser)single nucleotide variantPathogenicGRCh37Chr 1, 203832842: 203832842

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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Pathways related to Hypotrichosis Simplex according to GeneCards Suite gene sharing:

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 Suite gene sharing:

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

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:00300579.8CDSN, DSG4

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

idNameGO IDScoreTop Affiliating Genes
1canonical Wnt signaling pathwayGO:00600709.6WNT3A, LRP5
2keratinocyte differentiationGO:00302169.5CDSN, DSG4

Molecular functions related to Hypotrichosis Simplex according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1Wnt-protein bindingGO:00171479.8APCDD1, LRP5

Products for genes affiliated with Hypotrichosis Simplex

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hypotrichosis Simplex

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet