MCID: HYP087
MIFTS: 41

Hypotrichosis malady

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

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Sources:
8Disease Ontology, 65Wikipedia, 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 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...

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

Aliases & Classifications for Hypotrichosis

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Sources:
8Disease Ontology, 10DISEASES, 62UMLS, 47OMIM, 40NCIt, 35MeSH, 58SNOMED-CT
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Classifications:

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


Aliases & Descriptions:

hypotrichosis 8 10 62


External Ids:

Disease Ontology8 DOID:4535
SNOMED-CT58 53602002
NCIt40 C34720
MeSH35 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 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 275)
idRelated DiseaseScoreTop Affiliating Genes
1hypotrichosis simplex31.0APCDD1
2pemphigus vulgaris29.7CDH3, DSG4
3pemphigus29.7CDH3, DSG4
4autosomal recessive hypotrichosis10.6
5macular dystrophy10.4
6juvenile macular degeneration and hypotrichosis10.4
7metaphyseal dysplasia without hypotrichosis10.3
8localized autosomal recessive hypotrichosis10.3
9hypotrichosis 210.3
10marie unna congenital hypotrichosis10.3
11hypotrichosis-lymphedema-telangiectasia syndrome10.3
12hypotrichosis 810.3
13ichthyosis with hypotrichosis, autosomal recessive10.3
14spondyloepimetaphyseal dysplasia with hypotrichosis10.3
15woolly hair hypotrichosis everted lower lip and outstanding ears10.3
16hypotrichosis 310.2
17hypotrichosis 110.2
18hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome10.2
19total hypotrichosis, mari type10.2
20hypotrichosis 1110.2
21hypotrichosis 410.2
22hypotrichosis 610.2
23anodontia10.2
24monilethrix10.2
25basal cell carcinoma10.2
26ectodermal dysplasia10.2
27ichthyosis, congenital, autosomal recessive 1110.2
28hallermann-streiff syndrome10.1
29alopecia10.1
30brachymetapody anodontia hypotrichosis albinoidism10.1
31schopf-schulz-passarge syndrome10.1
32short stature, onychodysplasia, facial dysmorphism, and hypotrichosis10.1
33hypotrichosis and recurrent skin vesicles10.1
34hypotrichosis of eyelid10.0
35roberts syndrome10.0
36cartilage-hair hypoplasia10.0
37hypohidrosis10.0
38cataract10.0
39keratosis10.0
40lymphedema10.0
41bazex-dupre-christol syndrome10.0
42congenital hypotrichosis milia10.0
43ichthyosis, follicular10.0
44leukomelanoderma mental redardation hypotrichosis10.0
45keratoderma10.0
46ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant10.0
47erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper ige10.0
48hypotrichosis-deafness syndrome10.0
49trichorhinophalangeal syndrome type i10.0
50netherton syndrome10.0

Graphical network of the top 20 diseases related to Hypotrichosis:



Diseases related to hypotrichosis

Symptoms for Hypotrichosis

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47OMIM
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Clinical features from OMIM:

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

Drugs & Therapeutics for Hypotrichosis

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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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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33MalaCards
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MalaCards organs/tissues related to Hypotrichosis:

33
Skin, Bone, Thyroid

Animal Models for Hypotrichosis or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Hypotrichosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053799.0HR, CDH3, DSG4
2MP:00107717.9HR, CDH3, DSG4, SOX18

Publications for Hypotrichosis

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52PubMed
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Articles related to Hypotrichosis:

(show top 50)    (show all 235)
idTitleAuthorsYear
1
Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis. (23293922)
2013
2
Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis. (22385360)
2013
3
Two cases of Marie Unna hereditary hypotrichosis: clinical features and mutation analysis of the U2HR and EPS8L3 genes. (24236410)
2013
4
Homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient. (24354445)
2013
5
Pili annulati masquerading as hypotrichosis. (23819454)
2013
6
Arap3 is dysregulated in a mouse model of hypotrichosis-lymphedema-telangiectasia and regulates lymphatic vascular development. (24163130)
2013
7
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
8
Marie Unna hereditary hypotrichosis: a recurrent c.74C>T mutation in the U2HR gene and literature review. (24261346)
2013
9
Alopecia and Hypotrichosis as Characteristic Findings in Woodhouse-Sakati Syndrome: Report of a Family with Mutation in the C2orf37 Gene. (24015686)
2013
10
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. (22840363)
2012
11
Homozygous deletion in CDH3 and hypotrichosis with juvenile macular dystrophy. (23143461)
2012
12
Abnormal sebaceous gland differentiation in 10 kittens ('sebaceous gland dysplasia') associated with generalized hypotrichosis and scaling. (22313039)
2012
13
The I^9 loop domain of PA-PLA1I+ has a crucial role in autosomal recessive woolly hair/hypotrichosis. (22475755)
2012
14
Marie-Unna hereditary hypotrichosis: case report and review of the literature. (21504454)
2011
15
Marie Unna hereditary hypotrichosis: a Turkish family with loss of eyebrows and a U2HR mutation. (20814945)
2010
16
Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis. (20213768)
2010
17
A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12 approximately 12.3 in a Chinese family. (19751230)
2010
18
In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth. (19536142)
2009
19
Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families. (19292720)
2009
20
Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis. (19892526)
2009
21
Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis. (19262606)
2009
22
A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis. (19513791)
2009
23
Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family. (17392831)
2007
24
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis. (17333281)
2007
25
Autosomal ichthyosis with hypotrichosis syndrome displays low matriptase proteolytic activity and is phenocopied in ST14 hypomorphic mice. (17940283)
2007
26
Hypotrichosis with juvenile macular dystrophy: clinical and electrophysiological assessment of visual function. (16650681)
2006
27
Further delineation of the hypotrichosis-deafness syndrome. (16280295)
2005
28
Marie Unna hereditary hypotrichosis: report of a Chinese family and evidence for genetic heterogeneity. (15347323)
2004
29
The hairless (hr) gene is involved in the congenital hypotrichosis of Valle del Belice sheep. (12927087)
2003
30
Progressive patterned scalp hypotrichosis, with wiry hair, onycholysis, and intermittently associated cleft lip and palate: clinical and genetic distinction from Marie Unna. (12895008)
2003
31
Genetic syndrome with ichthyosis: congenital ichthyosis, follicular atrophoderma, hypotrichosis, and woolly hair; second report. (12207612)
2002
32
Hereditary hypotrichosis simplex of the scalp. (11994181)
2002
33
Guess what! Hypotrichosis simplex. (11458928)
2001
34
The hypotrichosis-generating shorn (shn) mutation maps to distal chromosome 7 in the Norway rat. (10912685)
2000
35
Total hypotrichosis: genetic form of alopecia not linked to hairless gene. (10509509)
1999
36
Congenital hypotrichosis. (10369537)
1999
37
The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing. (10417283)
1999
38
Congenital ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis: a new genodermatosis? (9450882)
1998
39
Multiple follicular hamartomas with sweat gland and sebaceous differentiation, vermiculate atrophoderma, milia, hypotrichosis, and late development of multiple basal cell carcinomas. (9810915)
1998
40
Olmsted syndrome with hypotrichosis. (20944293)
1997
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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2BioGPS, 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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GO Terms for genes affiliated with Hypotrichosis

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16Gene Ontology
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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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet