MCID: HYP087
MIFTS: 43

Hypotrichosis malady

Summaries for Hypotrichosis

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8Disease Ontology, 63Wikipedia, 46OMIM, 32MalaCards
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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. Affiliated tissues include skin, bone and thyroid, and related mouse phenotype integument.

Wikipedia:63 Hypotrichosis is a condition of abnormal hair patterns - predominantly loss or reduction. It occurs,... more...

Description from OMIM:46 607903, 613981, 146550, 146520, 601553 604379, 278150, 605389 more

Aliases & Classifications for Hypotrichosis

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8Disease Ontology, 10DISEASES, 60UMLS, 46OMIM, 39NCIt, 56SNOMED-CT, 34MeSH
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Aliases & Descriptions:

hypotrichosis 8 10 60


External Ids:

Disease Ontology8 DOID:4535
SNOMED-CT56 53602002
NCIt39 C34720
MeSH34 D007039

Related Diseases for Hypotrichosis

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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 264)
idRelated DiseaseScoreTop Affiliating Genes
1monilethrix30.2KRT83, DSG4, LIPH
2ichthyosis with hypotrichosis30.1ST14
3alopecia30.1HR
4alopecia universalis29.6HR
5clouston syndrome29.6GJB3, GJB4
6skin disease29.6GJB4, GJB3, CDH3, CDSN
7autosomal recessive hypotrichosis10.5
8hypotrichosis simplex10.3
9juvenile macular degeneration and hypotrichosis10.3
10metaphyseal dysplasia without hypotrichosis10.3
11hypotrichosis simplex of scalp 110.3
12hypotrichosis 810.3
13marie unna congenital hypotrichosis10.2
14hypotrichosis-lymphedema-telangiectasia syndrome10.2
15woolly hair hypotrichosis everted lower lip and outstanding ears10.2
16spondyloepimetaphyseal dysplasia with hypotrichosis10.2
17ichthyosis with hypotrichosis, autosomal recessive10.2
18hypotrichosis, hereditary, marie unna type, 110.2
19hypotrichosis simplex of the scalp 210.2
20hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome10.2
21total hypotrichosis, mari type10.2
22hypotrichosis 1110.2
23anodontia10.1
24basal cell carcinoma10.1
25cartilage-hair hypoplasia10.1
26hypotrichosis of eyelid10.1
27hallermann-streiff syndrome10.1
28lymphedema10.1
29brachymetapody anodontia hypotrichosis albinoidism10.1
30localized autosomal recessive hypotrichosis10.1
31schopf-schulz-passarge syndrome10.1
32hypohidrosis10.0
33follicular basal cell carcinoma10.0
34roberts syndrome10.0
35cataract10.0
36keratosis10.0
37congenital hypotrichosis milia10.0
38leukomelanoderma mental redardation hypotrichosis10.0
39ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant10.0
40short stature, onychodysplasia, facial dysmorphism, and hypotrichosis10.0
41hypotrichosis and recurrent skin vesicles10.0
42erythrokeratodermia variabilis10.0GJB4, GJB3
43trichorhinophalangeal syndrome type i9.9
44netherton syndrome9.9
45syndactyly9.9
46sc phocomelia syndrome9.9
47cleft palate9.9
48ackerman syndrome9.9
49bazex-dupre-christol syndrome9.9
50thumb deformity, alopecia, pigmentation anomaly9.9

Graphical network of the top 20 diseases related to Hypotrichosis:



Diseases related to hypotrichosis

Clinical Features for Hypotrichosis

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46OMIM
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Clinical features from OMIM:

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

Drugs & Therapeutics for Hypotrichosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Hypotrichosis

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Genetic Tests for Hypotrichosis

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Anatomical Context for Hypotrichosis

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32MalaCards
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MalaCards organs/tissues related to Hypotrichosis:

32
Skin, Bone, Thyroid

Animal Models for Hypotrichosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hypotrichosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107719.8HR, GJB3, CDH3, CDSN, DSG4, LIPH

Publications for Hypotrichosis

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50PubMed
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Articles related to Hypotrichosis:

(show top 50)    (show all 238)
idTitleAuthorsYear
1
Two cases of Marie Unna hereditary hypotrichosis: clinical features and mutation analysis of the U2HR and EPS8L3 genes. (24236410)
2013
2
Homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient. (24354445)
2013
3
Pili annulati masquerading as hypotrichosis. (23819454)
2013
4
Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood. (22449147)
2013
5
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. (22840363)
2012
6
The I^9 loop domain of PA-PLA1I+ has a crucial role in autosomal recessive woolly hair/hypotrichosis. (22475755)
2012
7
Topical bimatoprost for the treatment of eyebrow hypotrichosis. (22206085)
2012
8
Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis. (23099647)
2012
9
A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities. (22584530)
2012
10
Identification of a novel U2HR mutation c.14C>T in a Chinese patient with Marie Unna hereditary hypotrichosis. (22155146)
2012
11
A novel mutation in lysophosphatidic acid receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect. (22531990)
2012
12
Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan. (21426374)
2011
13
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
14
Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees. (20528890)
2011
15
Splice site mutations in the P-cadherin gene underlie hypotrichosis with juvenile macular dystrophy. (20203473)
2010
16
Novel mutations in the P2RY5 gene in one Turkish and two Indian patients presenting with hypotrichosis and woolly hair. (19529952)
2009
17
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. (19122663)
2009
18
Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. (18830268)
2009
19
A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser syndrome. (19119135)
2008
20
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis. (17333281)
2007
21
Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32. (17594396)
2007
22
Novel CDH3 mutations in hypotrichosis with juvenile macular dystrophy. (17342797)
2007
23
Hypotrichosis with juvenile macular dystrophy: clinical and electrophysiological assessment of visual function. (16650681)
2006
24
Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins. (16770573)
2006
25
A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. (16297213)
2005
26
Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats. (16382669)
2005
27
Marie Unna hereditary hypotrichosis: report of a Chinese family and evidence for genetic heterogeneity. (15347323)
2004
28
Desmoglein 4 in hair follicle differentiation and epidermal adhesion. Evidence from inherited hypotrichosis and acquired pemphigus vulgaris. (12705872)
2003
29
A locus for hereditary hypotrichosis localized to human chromosome 18q21.1. (12891384)
2003
30
Genetic syndrome with ichthyosis: congenital ichthyosis, follicular atrophoderma, hypotrichosis, and woolly hair; second report. (12207612)
2002
31
Hereditary hypotrichosis simplex of the scalp. (11994181)
2002
32
Congenital hypotrichosis with anodontia in cattle: a genetic, clinical and histological analysis. (12464063)
2002
33
Congenital hypotrichosis due to short anagen. (10971339)
2000
34
Linkage of Marie-Unna hypotrichosis locus to chromosome 8p21 and exclusion of 10 genes including the hairless gene by mutation analysis. (10854110)
2000
35
Shorn (shn): a new mutation causing hypotrichosis in the Norway rat. (9656468)
1998
36
Topical fluocinolone acetonide acetate ointment in autosomal dominant congenital hypotrichosis. (20948067)
1996
37
Mental retardation, hypotrichosis and syndactyly: a new entity? (8652088)
1996
38
A Scottish family with Bazex-DuprAc-Christol syndrome: follicular atrophoderma, congenital hypotrichosis, and basal cell carcinoma. (8782050)
1996
39
Congenital hypotrichosis in Poll Dorset sheep. (1642602)
1992
40
Familial hypotrichosis of the scalp. Autosomal dominant inheritance in four generations. (1681656)
1991
41
Hypotrichosis with keratosis pilaris: electrophoretical study of hair fibrous proteins from a patient. (2591617)
1989
42
Congenital hypotrichosis in male basset hound littermates. (4055508)
1985
43
Further studies of congenital hypotrichosis in Hereford cattle. (6426206)
1984
44
Follicular atrophoderma and hypotrichosis. ? Bazex's syndrome. (465327)
1979
45
Hypotrichosis in Miniature Poodle siblings. (1141043)
1975
46
Studies of the density and the properties of the hair in a new inherited syndrome of hypotrichosis. (4220381)
1972
47
Histopathology of hypotrichosis in calves. (6067904)
1967
48
CONGENITAL CILIARY HYPOTRICHOSIS. (14269085)
1964
49
Hypotrichosis, syndactyly, and retinal degeneration in two siblings. (13372143)
1956
50
Congenital Hypotrichosis in a Child. (19989515)
1933

Genetic Variations for Hypotrichosis

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Expression for genes affiliated with Hypotrichosis

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

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Pathways for genes affiliated with Hypotrichosis

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Compounds for genes affiliated with Hypotrichosis

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59Tocris Bioscience, 28IUPHAR, 24HMDB, 44Novoseek, 11DrugBank
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Compounds related to Hypotrichosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
110panx5910.4GJB4, GJB3
2gap 275910.4GJB3, GJB4
3carbenoxolone disodium5910.3GJB3, GJB4
4scrambled 10panx5910.3GJB3, GJB4
5ca2+2810.3GJB4, GJB3
6octanol28 2411.2GJB4, GJB3
7carbenoxolone28 44 1112.0GJB4, GJB3

GO Terms for genes affiliated with Hypotrichosis

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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

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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