AH
MCID: ATS061
MIFTS: 31

Autosomal Recessive Hypotrichosis (AH) malady

Genetic diseases (common) category

Summaries for Autosomal Recessive Hypotrichosis

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22Genetics Home Reference, 34MalaCards
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Genetics Home Reference:22 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: 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(P-16:0e/0:0) and LPA(18:0e/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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22Genetics Home Reference, 63UMLS, 46Novoseek
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Classifications:

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


Aliases & Descriptions:

autosomal recessive hypotrichosis 22
hypotrichosis 22 63
autosomal recessive woolly hair with or without hypotrichosis 22
hypotrichosis, localized, autosomal recessive, 2 63
hypotrichosis, localized, autosomal recessive 1 63
hypotrichosis, localized, autosomal recessive 46
autosomal recessive localized hypotrichosis 22
total hypotrichosis, mari type 22
hypotrichoses 22
htl 22
lah 22
ah 22


Related Diseases for Autosomal Recessive Hypotrichosis

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18GeneCards, 19GeneDecks
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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 280)
idRelated DiseaseScoreTop Affiliating Genes
1hypotrichosis31.1LPAR6, LIPH, DSG4
2monilethrix30.2KRT83, LIPH, DSG4
3localized autosomal recessive hypotrichosis10.6
4macular dystrophy10.4
5juvenile macular degeneration and hypotrichosis10.4
6hypotrichosis simplex10.3
7metaphyseal dysplasia without hypotrichosis10.3
8marie unna congenital hypotrichosis10.3
9hypotrichosis-lymphedema-telangiectasia syndrome10.3
10ichthyosis with hypotrichosis, autosomal recessive10.3
11spondyloepimetaphyseal dysplasia with hypotrichosis10.3
12woolly hair hypotrichosis everted lower lip and outstanding ears10.3
13hypotrichosis 310.2
14hypotrichosis 110.2
15hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome10.2
16total hypotrichosis, mari type10.2
17hypotrichosis 1110.2
18hypotrichosis 410.2
19anodontia10.2
20basal cell carcinoma10.2
21ectodermal dysplasia10.2
22ichthyosis, congenital, autosomal recessive 1110.2
23alopecia10.1
24hypotrichosis 210.1
25hypotrichosis 810.1
26hypotrichosis 610.1
27hallermann-streiff syndrome10.1
28brachymetapody anodontia hypotrichosis albinoidism10.1
29schopf-schulz-passarge syndrome10.1
30short stature, onychodysplasia, facial dysmorphism, and hypotrichosis10.1
31hypotrichosis and recurrent skin vesicles10.1
32liposarcoma10.1
33retroperitoneal liposarcoma10.1
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
49mycosis fungoides10.0
50cutaneous t cell lymphoma10.0

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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch 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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38MGI
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MGI Mouse Phenotypes related to Autosomal Recessive Hypotrichosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1LIPH, DSG4

Publications for Autosomal Recessive Hypotrichosis

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53PubMed
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Articles related to Autosomal Recessive Hypotrichosis:

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

idCompoundScoreTop Affiliating Genes
1LPA(P-16:0e/0:0)259.4LIPH, LPAR6
2LPA(18:0e/0:0)259.3LPAR6, LIPH
3LPA(18:0/0:0)259.3LIPH, LPAR6
4LPA(18:1(9Z)/0:0)259.3LPAR6, LIPH
5LPA(18:2(9Z,12Z)/0:0)259.2LPAR6, LIPH
6LPA(16:0/0:0)259.2LIPH, LPAR6
7LPA(0:0/16:0)259.1LIPH, LPAR6
8LPA(0:0/18:2(9Z,12Z))259.1LPAR6, LIPH
9LPA(0:0/18:0)259.0LPAR6, LIPH
10LPA(0:0/18:1(9Z))258.8LPAR6, LIPH

GO Terms for genes affiliated with Autosomal Recessive Hypotrichosis

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17Gene Ontology
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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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet