MCID: HYP137
MIFTS: 37

Hypotrichosis Simplex malady

Genetic diseases, Rare diseases, Skin diseases categories

Aliases & Classifications for Hypotrichosis Simplex

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Sources:
45NIH Rare Diseases, 22GeneTests, 51Orphanet, 24GTR, 65UMLS, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all sources

Aliases & Descriptions for Hypotrichosis Simplex:

Name: Hypotrichosis Simplex 45 22 51 24 65
Hereditary Hypotrichosis Simplex 51
 
Hhs 45


Classifications:

Orphanet: 51 
Rare skin diseases


Characteristics (Orphanet epidemiological data):

51
hypotrichosis simplex:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

Orphanet51 55654
UMLS via Orphanet66 C1854310
ICD10 via Orphanet28 L65.8
MESH via Orphanet37 C537160

Summaries for Hypotrichosis Simplex

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NIH Rare Diseases:45 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 are Regulation of FZD by ubiquitination and Wnt signaling network. Affiliated tissues include skin, and related mouse phenotypes are pigmentation and endocrine/exocrine gland.

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 100)
idRelated DiseaseScoreTop Affiliating Genes
1hypotrichosis10.8
2hypotrichosis simplex of the scalp10.7
3hypotrichosis 210.5
4hypotrichosis 310.5
5hypotrichosis 110.4
6hypogonadotropic hypogonadism 2 with or without anosmia10.2
7hemochromatosis10.2
8tumoral calcinosis, hyperphosphatemic, familial10.2
9dyskeratosis congenita, x-linked10.2
10hypogonadotropism10.2
11hypogonadism10.2
12hypotrichosis 810.1
13holoprosencephaly10.1
14wt1-related disorders10.1LIPH, LPAR6
15heart-hand syndrome, slovenian type10.1
16dyskeratosis congenita, autosomal dominant 110.1
17hypogonadotropic hypogonadism 7 without anosmia10.1
18dyskeratosis congenita, autosomal recessive 510.1
19kallmann syndrome10.1
20hyperphosphatemia10.1
21basal cell carcinoma10.1
22hyperostosis10.1
23isolated gonadotropin-releasing hormone deficiency10.1
24worster drought syndrome10.1LIPH, LPAR6
25mitochondrial dna depletion syndrome 510.0KRT25, LPAR6
26medulloblastoma9.9
27hiv-19.9
28hypogonadotropic hypogonadism 13 with or without anosmia9.9
29hepatocellular carcinoma9.9
30hypogonadotropic hypogonadism 15 with or without anosmia9.9
31asthma9.9
32breast cancer9.9
33hypogonadotropic hypogonadism 4 with or without anosmia9.9
34hypogonadotropic hypogonadism 18 with or without anosmia9.9
35hypogonadotropic hypogonadism 11 with or without anosmia9.9
36hypogonadotropic hypogonadism 17 with or without anosmia9.9
37asthma 29.9
38hypogonadotropic hypogonadism 16 with or without anosmia9.9
39hemochromatosis, type 39.9
40hypogonadotropic hypogonadism with or without anosmia9.9
41hypogonadotropic hypogonadism 20 with or without anosmia9.9
42hypogonadotropic hypogonadism 12 with or without anosmia9.9
43hypogonadotropic hypogonadism 5 with or without anosmia9.9
44hypogonadotropic hypogonadism 9 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
49asthma 19.9
50pulmonary disease, chronic obstructive9.9

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:

 51 (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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Interventional clinical trials:

Search ClinicalTrials, 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 Simplex22 24

Anatomical Context for Hypotrichosis Simplex

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MalaCards organs/tissues related to Hypotrichosis Simplex:

33
Skin

Animal Models for Hypotrichosis Simplex or affiliated genes

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MGI Mouse Phenotypes related to Hypotrichosis Simplex:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.0DSG4, LIPH, LRP5
2MP:00053797.6CDSN, DSG4, KRT25, LRP5, SNRPE

Publications for Hypotrichosis Simplex

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Articles related to Hypotrichosis Simplex:

(show all 29)
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
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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Clinvar genetic disease variations for Hypotrichosis Simplex:

5 (show all 21)
id Gene Variation Type Significance SNP ID Assembly Location
1RPL21NM_000982.3(RPL21): c.95G> A (p.Arg32Gln)single nucleotide variantPathogenicrs587777527GRCh37Chr 13, 27828384: 27828384
2NM_005767.5(LPAR6): c.463C> T (p.Gln155Ter)single nucleotide variantPathogenicrs121434306GRCh37Chr 13, 48986097: 48986097
3LPAR6LPAR6, 2-BP DEL, 373AAdeletionPathogenic
4LPAR6LPAR6, 4-BP INS, 69CATGinsertionPathogenic
5NM_005767.5(LPAR6): c.436G> A (p.Gly146Arg)single nucleotide variantPathogenicrs121434308GRCh37Chr 13, 48986124: 48986124
6NM_005767.5(LPAR6): c.565G> A (p.Glu189Lys)single nucleotide variantPathogenicrs121434309GRCh37Chr 13, 48985995: 48985995
7KRT25NM_181534.3(KRT25): c.950T> C (p.Leu317Pro)single nucleotide variantPathogenicrs766783183GRCh37Chr 17, 38907213: 38907213
8DSG4DSG4, EX5-8DELdeletionPathogenic
9DSG4DSG4, 1-BP DEL, 87GdeletionPathogenic
10NM_177986.3(DSG4): c.574T> C (p.Ser192Pro)single nucleotide variantPathogenicrs267606775GRCh37Chr 18, 28970675: 28970675
11NM_177986.3(DSG4): c.2038dupT (p.Ser680Phefs)duplicationPathogenicrs786200875GRCh38Chr 18, 31409556: 31409556
12DSG4DSG4, IVS3, G-T, +1single nucleotide variantPathogenic
13NM_177986.3(DSG4): c.800C> G (p.Pro267Arg)single nucleotide variantPathogenicrs267606776GRCh37Chr 18, 28971156: 28971156
14DSG4DSG4, 1-BP DEL, 763TdeletionPathogenic
15NM_177986.3(DSG4): c.865C> T (p.Arg289Ter)single nucleotide variantPathogenicrs267606777GRCh37Chr 18, 28972163: 28972163
16NM_005767.5(LPAR6): c.587C> T (p.Pro196Leu)single nucleotide variantPathogenicrs115596308GRCh37Chr 13, 48985973: 48985973
17APCDD1NM_153000.4(APCDD1): c.26T> G (p.Leu9Arg)single nucleotide variantPathogenicrs267606659GRCh37Chr 18, 10455004: 10455004
18LIPHLIPH, EX4 DELdeletionPathogenic
19LIPHLIPH, 5-BP DEL, NT346deletionPathogenic
20SNRPENM_003094.3(SNRPE): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs587776924GRCh37Chr 1, 203830788: 203830788
21SNRPENM_003094.3(SNRPE): c.133G> A (p.Gly45Ser)single nucleotide variantPathogenicrs587776925GRCh37Chr 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
1
Show member pathways
9.1LRP5, WNT3A
29.1LRP5, WNT3A
3
Show member pathways
9.1LRP5, WNT3A

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:00300579.4CDSN, DSG4

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

idNameGO IDScoreTop Affiliating Genes
1hair cycleGO:004263310.0KRT25, SNRPE
2canonical Wnt signaling pathwayGO:00600709.4LRP5, WNT3A
3hair follicle developmentGO:00019429.4APCDD1, DSG4
4keratinocyte differentiationGO:00302169.4CDSN, DSG4
5Wnt signaling pathwayGO:00160558.7APCDD1, LRP5, WNT3A

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

idNameGO IDScoreTop Affiliating Genes
1Wnt-protein bindingGO:00171479.4APCDD1, LRP5

Sources for Hypotrichosis Simplex

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet