MCID: HYP087
MIFTS: 41

Hypotrichosis malady

Summaries for Hypotrichosis

Sources:
8Disease Ontology, 64Wikipedia, 47OMIM, 33MalaCards
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Disease Ontology:8 A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has material basis in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles.

MalaCards: Hypotrichosis is related to monilethrix and ichthyosis with hypotrichosis. An important gene associated with Hypotrichosis is DSG4 (desmoglein 4). The compounds 10panx and gap 27 have been mentioned in the context of this disorder. Related mouse phenotype integument.

Wikipedia:64 Hypotrichosis is a condition of abnormal hair patterns - predominantly loss or reduction. It occurs,... more...

Description from OMIM:47 607903, 613981, 146550, 146520, 601553 604379, 278150, 605389 more

Aliases & Classifications for Hypotrichosis

Sources:
8Disease Ontology, 10DISEASES, 61UMLS, 47OMIM, 40NCIt, 57SNOMED-CT, 35MeSH
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Aliases & Descriptions:

hypotrichosis 8 10 61


External Ids:

Disease Ontology8 DOID:4535
SNOMED-CT57 53602002
NCIt40 C34720
MeSH35 D007039

Related Diseases for Hypotrichosis

Sources:
17GeneCards, 18GeneDecks
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Diseases in the hypotrichosis 11 family:

hypotrichosis hypotrichosis 2
hypotrichosis 10 hypotrichosis 9
hypotrichosis 8

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

(show top 50)    (show all 279)
idRelated DiseaseScoreTop Affiliating Genes
1monilethrix30.2KRT83, DSG4, LIPH
2ichthyosis with hypotrichosis30.2ST14
3alopecia30.1HR
4alopecia universalis29.6HR
5autosomal recessive hypotrichosis10.7
6hypotrichosis simplex10.6
7woolly hair, autosomal recessive10.4
8macular dystrophy10.4
9juvenile macular degeneration and hypotrichosis10.3
10hypotrichosis 810.3
11metaphyseal dysplasia without hypotrichosis10.3
12localized autosomal recessive hypotrichosis10.3
13hypotrichosis-lymphedema-telangiectasia syndrome10.3
14marie unna congenital hypotrichosis10.3
15hypotrichosis simplex of scalp 110.3
16woolly hair hypotrichosis everted lower lip and outstanding ears10.2
17spondyloepimetaphyseal dysplasia with hypotrichosis10.2
18hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome10.2
19ichthyosis with hypotrichosis, autosomal recessive10.2
20hypotrichosis, hereditary, marie unna type, 110.2
21hypotrichosis simplex of the scalp 210.2
22total hypotrichosis, mari type10.2
23congenital hypotrichosis milia10.2
24hypotrichosis 1110.2
25anodontia10.1
26basal cell carcinoma10.1
27ectodermal dysplasia10.1
28cartilage-hair hypoplasia10.1
29hallermann-streiff syndrome10.1
30brachymetapody anodontia hypotrichosis albinoidism10.1
31schopf-schulz-passarge syndrome10.1
32hypohidrosis10.0
33hypotrichosis of eyelid10.0
34follicular basal cell carcinoma10.0
35roberts syndrome10.0
36n syndrome10.0
37short syndrome10.0
38ichthyosis, follicular10.0
39leukomelanoderma mental redardation hypotrichosis10.0
40keratoderma10.0
41hypotrichosis 210.0
42ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant10.0
43short stature, onychodysplasia, facial dysmorphism, and hypotrichosis10.0
44hypotrichosis 1010.0
45cataract, congenital10.0
46hypotrichosis and recurrent skin vesicles10.0
47hypotrichosis-deafness syndrome10.0
48clouston syndrome10.0GJB3, GJB4
49skin disease10.0GJB4, GJB3, CDH3, CDSN
50erythrokeratodermia variabilis10.0GJB4, GJB3

Graphical network of the top 20 diseases related to Hypotrichosis:



Diseases related to hypotrichosis

Clinical Features for Hypotrichosis

Sources:
47OMIM
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Clinical features from OMIM:

607903,613981,146550,146520,601553,604379,278150,605389

Drugs & Therapeutics for Hypotrichosis

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

Search CenterWatch for Hypotrichosis

Drug clinical trials:

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Search CenterWatch for Hypotrichosis

Genetic Tests for Hypotrichosis

Anatomical Context for Hypotrichosis

Animal Models for Hypotrichosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Hypotrichosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107719.8HR, GJB3, CDH3, CDSN, DSG4, LIPH

Publications for Hypotrichosis

Sources:
51PubMed
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Articles related to Hypotrichosis:

(show top 50)    (show all 238)
idTitleAuthorsYear
1
Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis. (23293922)
2013
2
Identification of an Alu-mediated 12.2-kb deletion of the complete LPAR6 (P2RY5) gene in a Turkish family with hypotrichosis and woolly hair. (22621192)
2012
3
A novel nonsense CDH3 mutation in hypotrichosis with juvenile macular dystrophy. (22348569)
2012
4
A recurrent mutation in the APCDD1 gene responsible for hereditary hypotrichosis simplex in a large Chinese family. (22512811)
2012
5
A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families. (22440536)
2012
6
A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair. (23066499)
2012
7
Marie-Unna hereditary hypotrichosis: case report and review of the literature. (21504454)
2011
8
Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis. (20213768)
2010
9
A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12 approximately 12.3 in a Chinese family. (19751230)
2010
10
Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript. (20163456)
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 the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis. (19892526)
2009
13
A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis. (19513791)
2009
14
Vascular defects in a mouse model of hypotrichosis-lymphedema-telangiectasia syndrome indicate a role for SOX18 in blood vessel maturation. (19429912)
2009
15
The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis. (19365138)
2009
16
A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. (19765682)
2009
17
Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. (16543896)
2006
18
Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. (16439973)
2006
19
A case of hereditary hypotrichosis simplex. (16987285)
2006
20
A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis. (15191570)
2004
21
Histopathology of hypotrichosis with juvenile macular dystrophy. (15166507)
2004
22
Light and scanning electron microscopic examination of late changes in hair with hereditary trichodysplasia (Marie Unna hypotrichosis). (15573195)
2004
23
A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33-q27.3. (15520410)
2004
24
The hairless (hr) gene is involved in the congenital hypotrichosis of Valle del Belice sheep. (12927087)
2003
25
Progressive patterned scalp hypotrichosis, with wiry hair, onycholysis, and intermittently associated cleft lip and palate: clinical and genetic distinction from Marie Unna. (12895008)
2003
26
Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin. (12754508)
2003
27
A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy. (12445216)
2002
28
Hereditary hypotrichosis simplex: report of a family. (12472539)
2002
29
Bilateral poliosis and granulomatous anterior uveitis associated with latanoprost use and apparent hypotrichosis on its withdrawal. (11450742)
2001
30
Hypotrichosis, lymphedema of the legs and acral telangiectasias--new syndrome? (11701398)
2001
31
Sporadic Bazex-DuprAc-Christol-like syndrome: early onset basal cell carcinoma, hypohidrosis, hypotrichosis, and prominent milia. (10691946)
2000
32
An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family. (10878665)
2000
33
A syndrome combining severe hypotrichosis and macular dystrophy: absence of mutations in TIMP genes. (11069488)
2000
34
Marie Unna congenital hypotrichosis: clinical description, histopathology, scanning electron microscopy of a previously unreported large pedigree. (10674378)
1999
35
Hair restoration surgery in patients with hypotrichosis of the pubis: the reason and ideas for design. (10469095)
1999
36
Multiple follicular hamartomas with sweat gland and sebaceous differentiation, vermiculate atrophoderma, milia, hypotrichosis, and late development of multiple basal cell carcinomas. (9810915)
1998
37
Keratoderma, hypotrichosis and leukonychia totalis: a new syndrome? (7577599)
1995
38
Unusual association of juvenile macular dystrophy with congenital hypotrichosis: occurrence in two siblings suggesting autosomal recessive inheritance. (7648037)
1995
39
Hereditary hypotrichosis simplex of the scalp. (8520061)
1995
40
Macular dystrophy and hypotrichosis: the EEM-Albrectsen syndrome. (8749055)
1995
41
Congenital hypotrichosis and milia: report of a large family suggesting X-linked dominant inheritance. (7747764)
1994
42
Congenital hypotrichosis in an Ayrshire calf. (17423263)
1989
43
Hereditary hypotrichosis simplex of the scalp. (3652491)
1987
44
Role of arginine-converting-enzyme in hypotrichosis of Hereford cattle. (6412487)
1983
45
The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis. (6177160)
1981
46
Dermal dysplasia, hypotrichosis, and dorsal skin ulcers in adult NMRI-mice after X-irradiation in utero. (7414940)
1980
47
A family with hypotrichosis associated with congenital hypoplasia of the thumb. (529548)
1979
48
Hereditary hypotrichosis: a previously undescribed variant [proceedings]. (698059)
1978
49
Hypomelia-hypotrichosis-facial hemangioma syndrome (pseudothalidomide, SC syndrome, SC phocomelia syndrome). (5033248)
1972
50
The expression and interaction of hereditary factors producing hypotrichosis in the mouse; histology and experimental results. (21020475)
1946

Genetic Variations for Hypotrichosis

Expression for genes affiliated with Hypotrichosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hypotrichosis

Search GEO for disease gene expression data for Hypotrichosis.

Pathways for genes affiliated with Hypotrichosis

Compounds for genes affiliated with Hypotrichosis

Sources:
60Tocris Bioscience, 29IUPHAR, 24HMDB, 45Novoseek, 11DrugBank
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Compounds related to Hypotrichosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
110panx6010.4GJB4, GJB3
2gap 276010.4GJB3, GJB4
3carbenoxolone disodium6010.3GJB3, GJB4
4scrambled 10panx6010.3GJB3, GJB4
5ca2+2910.3GJB4, GJB3
6octanol29 2411.2GJB4, GJB3
7carbenoxolone29 45 1112.0GJB4, GJB3

GO Terms for genes affiliated with Hypotrichosis

Sources:
16Gene Ontology
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Cellular components related to Hypotrichosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1desmosomeGO:03005710.3CDSN, DSG4
2gap junctionGO:00592110.2GJB4, GJB3
3connexon complexGO:00592210.0GJB4, GJB3

Biological processes related to Hypotrichosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hair follicle developmentGO:00194210.3APCDD1, SOX18

Molecular functions related to Hypotrichosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:00524310.3GJB4, GJB3

Products for genes affiliated with Hypotrichosis

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Sources for Hypotrichosis

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