MCID: HYP087
MIFTS: 42

Hypotrichosis malady

Genetic diseases, Skin diseases, Rare diseases categories
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Summaries for Hypotrichosis

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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 based summary: Hypotrichosis is related to hypotrichosis simplex and pemphigus vulgaris. An important gene associated with Hypotrichosis is DSG4 (desmoglein 4). Affiliated tissues include skin, bone and thyroid, and related mouse phenotypes are endocrine/exocrine gland and integument.

Wikipedia:65 Hypotrichosis (hypo- + tricho- + -osis) is a condition of abnormal hair patterns - predominantly loss or... more...

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

Aliases & Classifications for Hypotrichosis

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Hypotrichosis, Aliases & Descriptions:

Name: Hypotrichosis 8 10 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:4535
MeSH34 D007039
SNOMED-CT57 53602002
NCIt39 C34720

Related Diseases for Hypotrichosis

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Diseases in the Hypotrichosis 11 family:

hypotrichosis Hypotrichosis 2
Hypotrichosis 5 Hypotrichosis 7
Hypotrichosis 10 Hypotrichosis 4
Hypotrichosis 9 Hypotrichosis 13
Hypotrichosis 3 Hypotrichosis 12
Hypotrichosis 8 Hypotrichosis 1
Hypotrichosis 6

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

(show top 50)    (show all 279)
idRelated DiseaseScoreTop Affiliating Genes
1hypotrichosis simplex31.3APCDD1
2pemphigus vulgaris29.9CDH3, DSG4
3pemphigus29.7CDH3, DSG4
4autosomal recessive hypotrichosis10.7
5macular dystrophy10.4
6juvenile macular degeneration and hypotrichosis10.4
7metaphyseal dysplasia without hypotrichosis10.4
8hypotrichosis 210.4
9hypotrichosis 810.3
10marie unna congenital hypotrichosis10.3
11localized autosomal recessive hypotrichosis10.3
12hypotrichosis-lymphedema-telangiectasia syndrome10.3
13hypotrichosis 410.3
14ichthyosis with hypotrichosis, autosomal recessive10.3
15spondyloepimetaphyseal dysplasia with hypotrichosis10.3
16woolly hair hypotrichosis everted lower lip and outstanding ears10.3
17hypotrichosis 1110.3
18hypotrichosis 310.3
19hypotrichosis 110.3
20hypotrichosis 610.2
21hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome10.2
22ectodermal dysplasia10.2
23monilethrix10.2
24total hypotrichosis, mari type10.2
25lymphedema10.2
26anodontia10.2
27basal cell carcinoma10.2
28ichthyosis, congenital, autosomal recessive 1110.2
29alopecia10.1
30cartilage-hair hypoplasia10.1
31hypotrichosis of eyelid10.1
32roberts syndrome10.1
33hallermann-streiff syndrome10.1
34bazex-dupre-christol syndrome10.1
35brachymetapody anodontia hypotrichosis albinoidism10.1
36keratoderma10.1
37schopf-schulz-passarge syndrome10.1
38short stature, onychodysplasia, facial dysmorphism, and hypotrichosis10.1
39cataract10.1
40sc phocomelia syndrome10.1
41hypohidrosis10.1
42keratosis10.1
43congenital hypotrichosis milia10.1
44ichthyosis, follicular10.1
45leukomelanoderma mental redardation hypotrichosis10.1
46hypotrichosis 510.1
47ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant10.1
48hypotrichosis 710.1
49hypotrichosis 1010.1
50hypotrichosis 910.1

Graphical network of the top 20 diseases related to Hypotrichosis:



Diseases related to hypotrichosis

Symptoms for Hypotrichosis

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Clinical features from OMIM:

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

Drugs & Therapeutics for Hypotrichosis

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Drug clinical trials:

Search ClinicalTrials for Hypotrichosis

Search NIH Clinical Center for Hypotrichosis

Genetic Tests for Hypotrichosis

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Anatomical Context for Hypotrichosis

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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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MGI Mouse Phenotypes related to Hypotrichosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053799.0HR, CDH3, DSG4
2MP:00107717.9HR, CDH3, DSG4, SOX18

Publications for Hypotrichosis

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Articles related to Hypotrichosis:

(show top 50)    (show all 252)
idTitleAuthorsYear
1
Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair. (24628704)
2014
2
A retrospective review and observational study of outcomes and safety of bimatoprost ophthalmic solution 0.03% for treating eyelash hypotrichosis. (25229783)
2014
3
Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations. (24586639)
2014
4
Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis. (23293922)
2013
5
Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis. (22385360)
2013
6
Two cases of Marie Unna hereditary hypotrichosis: clinical features and mutation analysis of the U2HR and EPS8L3 genes. (24236410)
2013
7
Homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient. (24354445)
2013
8
Pili annulati masquerading as hypotrichosis. (23819454)
2013
9
Arap3 is dysregulated in a mouse model of hypotrichosis-lymphedema-telangiectasia and regulates lymphatic vascular development. (24163130)
2013
10
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
11
Marie Unna hereditary hypotrichosis: a recurrent c.74C>T mutation in the U2HR gene and literature review. (24261346)
2013
12
Alopecia and Hypotrichosis as Characteristic Findings in Woodhouse-Sakati Syndrome: Report of a Family with Mutation in the C2orf37 Gene. (24015686)
2013
13
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. (22840363)
2012
14
Homozygous deletion in CDH3 and hypotrichosis with juvenile macular dystrophy. (23143461)
2012
15
Abnormal sebaceous gland differentiation in 10 kittens ('sebaceous gland dysplasia') associated with generalized hypotrichosis and scaling. (22313039)
2012
16
The I^9 loop domain of PA-PLA1I+ has a crucial role in autosomal recessive woolly hair/hypotrichosis. (22475755)
2012
17
Marie-Unna hereditary hypotrichosis: case report and review of the literature. (21504454)
2011
18
Marie Unna hereditary hypotrichosis: a Turkish family with loss of eyebrows and a U2HR mutation. (20814945)
2010
19
Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis. (20213768)
2010
20
A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12 approximately 12.3 in a Chinese family. (19751230)
2010
21
In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth. (19536142)
2009
22
Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families. (19292720)
2009
23
Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis. (19892526)
2009
24
Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis. (19262606)
2009
25
A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis. (19513791)
2009
26
Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family. (17392831)
2007
27
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis. (17333281)
2007
28
Hypotrichosis with juvenile macular dystrophy: clinical and electrophysiological assessment of visual function. (16650681)
2006
29
Further delineation of the hypotrichosis-deafness syndrome. (16280295)
2005
30
Marie Unna hereditary hypotrichosis: report of a Chinese family and evidence for genetic heterogeneity. (15347323)
2004
31
The hairless (hr) gene is involved in the congenital hypotrichosis of Valle del Belice sheep. (12927087)
2003
32
Progressive patterned scalp hypotrichosis, with wiry hair, onycholysis, and intermittently associated cleft lip and palate: clinical and genetic distinction from Marie Unna. (12895008)
2003
33
Genetic syndrome with ichthyosis: congenital ichthyosis, follicular atrophoderma, hypotrichosis, and woolly hair; second report. (12207612)
2002
34
Guess what! Hypotrichosis simplex. (11458928)
2001
35
The hypotrichosis-generating shorn (shn) mutation maps to distal chromosome 7 in the Norway rat. (10912685)
2000
36
Total hypotrichosis: genetic form of alopecia not linked to hairless gene. (10509509)
1999
37
Congenital hypotrichosis. (10369537)
1999
38
The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing. (10417283)
1999
39
Congenital ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis: a new genodermatosis? (9450882)
1998
40
Multiple follicular hamartomas with sweat gland and sebaceous differentiation, vermiculate atrophoderma, milia, hypotrichosis, and late development of multiple basal cell carcinomas. (9810915)
1998
41
Fever and hypotrichosis in a newborn. Anhidrotic ectodermal dysplasia (AED). (3777980)
1986
42
Eyelid cysts, hypodontia, and hypotrichosis. (6725680)
1984
43
Further studies of congenital hypotrichosis in Hereford cattle. (6426206)
1984
44
The Rombo syndrome: a familial disorder with vermiculate atrophoderma, milia, hypotrichosis, trichoepitheliomas, basal cell carcinomas and peripheral vasodilation with cyanosis. (6177160)
1981
45
A family with hypotrichosis associated with congenital hypoplasia of the thumb. (529548)
1979
46
Oral manifestations of oculomandibulodyscephaly with hypotrichosis (Hallermann-Streiff syndrome). (5277371)
1971
47
Syndrome of cystic eyelids, palmo-plantar keratosis, hypodontia and hypotrichosis as a possible autosomal recessive trait. (4281327)
1971
48
Inherited Congenital Hypotrichosis. (17421588)
1963
49
A form of ectodermal dysplasia; hypotrichosis with anhidrosis and anodontia]. (13023176)
1952
50
Genetical studies on skin diseases. III. Hypotrichosis congenita. (14828626)
1950

Variations for Hypotrichosis

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Expression for genes affiliated with Hypotrichosis

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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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GO Terms for genes affiliated with Hypotrichosis

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Biological processes related to Hypotrichosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1homophilic cell adhesionGO:0071569.6CDH3, DSG4
2hair follicle developmentGO:0019428.9SOX18, APCDD1

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet