MCID: HYP087
MIFTS: 35

Hypotrichosis malady

Genetic diseases (common) category

Summaries for Hypotrichosis

About this section


Disease Ontology:9 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:63 Hypotrichosis (hypo- + tricho- + -osis) is a condition of abnormal hair patterns - predominantly loss or... more...

Aliases & Classifications for Hypotrichosis

About this section

Hypotrichosis, Aliases & Descriptions:

Name: Hypotrichosis 9 11 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

Disease Ontology9 DOID:4535
ICD9CM27 704.09
SNOMED-CT55 53602002
MeSH33 D007039
NCIt38 C34720

Related Diseases for Hypotrichosis

About this section

Diseases in the Hypotrichosis family:

Hypotrichosis 5 Hypotrichosis 11
Hypotrichosis 7 Hypotrichosis 2
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 Suite gene sharing:

(show top 50)    (show all 274)
idRelated DiseaseScoreTop Affiliating Genes
1hypotrichosis simplex31.3APCDD1
2pemphigus vulgaris29.9CDH3, DSG4
3pemphigus29.7CDH3, DSG4
4hypotrichosis 710.5
5metaphyseal dysplasia without hypotrichosis10.4
6hypotrichosis simplex of the scalp10.4
7hypotrichosis 810.4
8marie unna congenital hypotrichosis10.4
9juvenile macular degeneration and hypotrichosis10.4
10hypotrichosis 210.4
11hypotrichosis-lymphedema-telangiectasia syndrome10.4
12woolly hair hypotrichosis everted lower lip and outstanding ears10.4
13hypotrichosis 610.4
14hypotrichosis 310.3
15hypotrichosis 110.3
16spondyloepimetaphyseal dysplasia with hypotrichosis10.3
17short stature, onychodysplasia, facial dysmorphism, and hypotrichosis10.3
18monilethrix10.2
19total hypotrichosis, mari type10.2
20hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome10.2
21ichthyosis-hypotrichosis syndrome10.2
22hypotrichosis 410.2
23ichthyosis, congenital, autosomal recessive 1110.2
24bazex syndrome10.2
25erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper ige10.2
26ectodermal dysplasia10.2
27hypotrichosis 510.2
28hypotrichosis 1110.2
29ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive10.2
30schopf-schulz-passarge syndrome10.2
31hypotrichosis 1010.2
32hypotrichosis 910.2
33hypotrichosis, congenital, with juvenile macular dystrophy10.2
34lymphedema10.2
35hypotrichosis of eyelid10.2
36anodontia10.2
37hallermann-streiff syndrome10.2
38basal cell carcinoma10.2
39brachymetapody anodontia hypotrichosis albinoidism10.2
40alopecia10.1
41congenital hypotrichosis milia10.1
42leukomelanoderma mental redardation hypotrichosis10.1
43keratoderma10.1
44hypotrichosis-deafness syndrome10.1
45ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant10.1
46ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis10.1
47roberts syndrome10.1
48cartilage-hair hypoplasia10.1
49ectodermal dysplasia 9, hair/nail type10.1
50hypotrichosis 1310.1

Graphical network of the top 20 diseases related to Hypotrichosis:



Diseases related to hypotrichosis

Symptoms for Hypotrichosis

About this section

Drugs & Therapeutics for Hypotrichosis

About this section

Drug clinical trials:

Search ClinicalTrials for Hypotrichosis

Search NIH Clinical Center for Hypotrichosis

Genetic Tests for Hypotrichosis

About this section

Anatomical Context for Hypotrichosis

About this section

MalaCards organs/tissues related to Hypotrichosis:

31
Skin, Bone, Thyroid

Animal Models for Hypotrichosis or affiliated genes

About this section

MGI Mouse Phenotypes related to Hypotrichosis:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053799.0HR, CDH3, DSG4
2MP:00107717.9HR, CDH3, DSG4, SOX18

Publications for Hypotrichosis

About this section

Articles related to Hypotrichosis:

(show top 50)    (show all 260)
idTitleAuthorsYear
1
Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis. (25895478)
2015
2
Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair. (24628704)
2014
3
A retrospective review and observational study of outcomes and safety of bimatoprost ophthalmic solution 0.03% for treating eyelash hypotrichosis. (25229783)
2014
4
Highly prevalent LIPH founder mutations causing autosomal recessive woolly hair/hypotrichosis in Japan and the genotype/phenotype correlations. (24586639)
2014
5
Hereditary hypotrichosis simplex of the scalp. (25484430)
2014
6
Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis. (23293922)
2013
7
Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis. (22385360)
2013
8
Two cases of Marie Unna hereditary hypotrichosis: clinical features and mutation analysis of the U2HR and EPS8L3 genes. (24236410)
2013
9
Homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient. (24354445)
2013
10
Pili annulati masquerading as hypotrichosis. (23819454)
2013
11
Arap3 is dysregulated in a mouse model of hypotrichosis-lymphedema-telangiectasia and regulates lymphatic vascular development. (24163130)
2013
12
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
13
Marie Unna hereditary hypotrichosis: a recurrent c.74C>T mutation in the U2HR gene and literature review. (24261346)
2013
14
Alopecia and Hypotrichosis as Characteristic Findings in Woodhouse-Sakati Syndrome: Report of a Family with Mutation in the C2orf37 Gene. (24015686)
2013
15
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. (22840363)
2012
16
Homozygous deletion in CDH3 and hypotrichosis with juvenile macular dystrophy. (23143461)
2012
17
Abnormal sebaceous gland differentiation in 10 kittens ('sebaceous gland dysplasia') associated with generalized hypotrichosis and scaling. (22313039)
2012
18
Marie-Unna hereditary hypotrichosis: case report and review of the literature. (21504454)
2011
19
Marie Unna hereditary hypotrichosis: a Turkish family with loss of eyebrows and a U2HR mutation. (20814945)
2010
20
Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis. (20213768)
2010
21
A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12 approximately 12.3 in a Chinese family. (19751230)
2010
22
In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth. (19536142)
2009
23
Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families. (19292720)
2009
24
Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis. (19892526)
2009
25
Founder mutations in the lipase h gene in families with autosomal recessive woolly hair/hypotrichosis. (19262606)
2009
26
A novel mutation in Hr causes abnormal hair follicle morphogenesis in hairpoor mouse, an animal model for Marie Unna Hereditary Hypotrichosis. (19513791)
2009
27
Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family. (17392831)
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

About this section

Expression for genes affiliated with Hypotrichosis

About this section
Search GEO for disease gene expression data for Hypotrichosis.

Pathways for genes affiliated with Hypotrichosis

About this section

Compounds for genes affiliated with Hypotrichosis

About this section

GO Terms for genes affiliated with Hypotrichosis

About this section

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

idNameGO IDScoreTop Affiliating Genes
1homophilic cell adhesionGO:00071569.6CDH3, DSG4
2hair follicle developmentGO:00019428.9SOX18, APCDD1

Products for genes affiliated with Hypotrichosis

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hypotrichosis

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet