AH
MCID: ATS061
MIFTS: 33

Autosomal Recessive Hypotrichosis (AH) malady

Genetic diseases (common) category
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Summaries for Autosomal Recessive Hypotrichosis

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Genetics Home Reference:21 Autosomal recessive hypotrichosis is a condition that affects hair growth. People with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. This hair is usually coarse, dry, and tightly curled (often described as woolly hair). Scalp hair may also be lighter in color than expected and is fragile and easily broken. Affected individuals often cannot grow hair longer than a few inches. The eyebrows, eyelashes, and other body hair may be sparse as well. Over time, the hair problems can remain stable or progress to complete scalp hair loss (alopecia) and a decrease in body hair.

MalaCards based summary: Autosomal Recessive Hypotrichosis, also known as hypotrichosis, is related to hypotrichosis and monilethrix. An important gene associated with Autosomal Recessive Hypotrichosis is DSG4 (desmoglein 4). The compounds LPA(18:0e/0:0) and LPA(P-16:0e/0:0) have been mentioned in the context of this disorder. Related mouse phenotype pigmentation.

Aliases & Classifications for Autosomal Recessive Hypotrichosis

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Autosomal Recessive Hypotrichosis, Aliases & Descriptions:

Name: Autosomal Recessive Hypotrichosis 21
Hypotrichosis 21 62
Autosomal Recessive Woolly Hair with or Without Hypotrichosis 21
Hypotrichosis, Localized, Autosomal Recessive, 2 62
Hypotrichosis, Localized, Autosomal Recessive 1 62
Hypotrichosis, Localized, Autosomal Recessive 44
 
Autosomal Recessive Localized Hypotrichosis 21
Total Hypotrichosis, Mari Type 21
Hypotrichoses 21
Htl 21
Lah 21
Ah 21


Classifications:

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


Related Diseases for Autosomal Recessive Hypotrichosis

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Diseases in the Autosomal Recessive Hypotrichosis family:

Localized Autosomal Recessive Hypotrichosis

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

(show top 50)    (show all 284)
idRelated DiseaseScoreTop Affiliating Genes
1hypotrichosis30.6LPAR6, LIPH, DSG4
2monilethrix29.8KRT83, LIPH, DSG4
3localized autosomal recessive hypotrichosis10.6
4hypotrichosis simplex10.4
5macular dystrophy10.4
6juvenile macular degeneration and hypotrichosis10.4
7metaphyseal dysplasia without hypotrichosis10.4
8marie unna congenital hypotrichosis10.3
9hypotrichosis-lymphedema-telangiectasia syndrome10.3
10hypotrichosis 410.3
11ichthyosis with hypotrichosis, autosomal recessive10.3
12spondyloepimetaphyseal dysplasia with hypotrichosis10.3
13woolly hair hypotrichosis everted lower lip and outstanding ears10.3
14hypotrichosis 1110.3
15hypotrichosis 310.3
16hypotrichosis 110.3
17hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome10.2
18ectodermal dysplasia10.2
19total hypotrichosis, mari type10.2
20lymphedema10.2
21anodontia10.2
22basal cell carcinoma10.2
23ichthyosis, congenital, autosomal recessive 1110.2
24alopecia10.1
25hypotrichosis 210.1
26hypotrichosis 810.1
27hypotrichosis 610.1
28cartilage-hair hypoplasia10.1
29hypotrichosis of eyelid10.1
30roberts syndrome10.1
31hallermann-streiff syndrome10.1
32bazex-dupre-christol syndrome10.1
33brachymetapody anodontia hypotrichosis albinoidism10.1
34keratoderma10.1
35schopf-schulz-passarge syndrome10.1
36short stature, onychodysplasia, facial dysmorphism, and hypotrichosis10.1
37liposarcoma10.1
38retroperitoneal liposarcoma10.1
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 Autosomal Recessive Hypotrichosis:



Diseases related to autosomal recessive hypotrichosis

Symptoms for Autosomal Recessive Hypotrichosis

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Drugs & Therapeutics for Autosomal Recessive Hypotrichosis

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Drug clinical trials:

Search ClinicalTrials for Autosomal Recessive Hypotrichosis

Search NIH Clinical Center for Autosomal Recessive Hypotrichosis

Genetic Tests for Autosomal Recessive Hypotrichosis

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Anatomical Context for Autosomal Recessive Hypotrichosis

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Animal Models for Autosomal Recessive Hypotrichosis or affiliated genes

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MGI Mouse Phenotypes related to Autosomal Recessive Hypotrichosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1LIPH, DSG4

Publications for Autosomal Recessive Hypotrichosis

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Articles related to Autosomal Recessive Hypotrichosis:

(show all 31)
idTitleAuthorsYear
1
Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair. (24628704)
2014
2
A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families. (25251037)
2014
3
Homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient. (24354445)
2013
4
A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair. (23066499)
2012
5
A novel mutation in lysophosphatidic acid receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect. (22531990)
2012
6
Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family. (25386265)
2011
7
Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan. (21426374)
2011
8
A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp. (21070332)
2011
9
Hair shaft abnormalities in localized autosomal recessive hypotrichosis 2 and a review of other non-syndromic human alopecias. (21537821)
2011
10
Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees. (20528890)
2011
11
Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis. (20213768)
2010
12
Mapping of a novel autosomal recessive hypotrichosis locus on chromosome 10q11.23a8922.3. (20054564)
2010
13
Mutations in lipase H gene underlie autosomal recessive hypotrichosis in five Pakistani families. (20107739)
2010
14
Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families. (19292720)
2009
15
A novel deletion mutation in the phospholipase H (LIPH) gene in a consanguineous Pakistani family with autosomal recessive hypotrichosis (LAH2). (18795930)
2009
16
Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair. (19766349)
2009
17
Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2). (19167195)
2009
18
A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families. (18820939)
2009
19
A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2). (18445047)
2008
20
Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation. (18692127)
2008
21
Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). (18461368)
2008
22
Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family. (17392831)
2007
23
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis. (17333281)
2007
24
Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32. (17594396)
2007
25
Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. (16543896)
2006
26
Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins. (16770573)
2006
27
An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. (16575393)
2006
28
A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. (16297213)
2005
29
Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats. (16382669)
2005
30
A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis. (15191570)
2004
31
A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. (15304105)
2004

Variations for Autosomal Recessive Hypotrichosis

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Expression for genes affiliated with Autosomal Recessive Hypotrichosis

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Expression patterns in normal tissues for genes affiliated with Autosomal Recessive Hypotrichosis

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Pathways for genes affiliated with Autosomal Recessive Hypotrichosis

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Compounds for genes affiliated with Autosomal Recessive Hypotrichosis

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Compounds related to Autosomal Recessive Hypotrichosis according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1LPA(18:0e/0:0)249.4LPAR6, LIPH
2LPA(P-16:0e/0:0)249.3LPAR6, LIPH
3LPA(16:0/0:0)249.3LIPH, LPAR6
4LPA(18:0/0:0)249.3LPAR6, LIPH
5LPA(18:1(9Z)/0:0)249.2LPAR6, LIPH
6LPA(18:2(9Z,12Z)/0:0)249.2LPAR6, LIPH
7LPA(0:0/18:2(9Z,12Z))249.1LIPH, LPAR6
8LPA(0:0/16:0)249.1LIPH, LPAR6
9LPA(0:0/18:1(9Z))249.0LIPH, LPAR6
10LPA(0:0/18:0)248.8LIPH, LPAR6

GO Terms for genes affiliated with Autosomal Recessive Hypotrichosis

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Cellular components related to Autosomal Recessive Hypotrichosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1plasma membraneGO:0058868.6LPAR6, LIPH, DSG4

Products for genes affiliated with Autosomal Recessive Hypotrichosis

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Sources for Autosomal Recessive 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