AH
MCID: ATS061
MIFTS: 32

Autosomal Recessive Hypotrichosis (AH) malady

Summaries for Autosomal Recessive Hypotrichosis

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21Genetics Home Reference, 47OMIM, 33MalaCards
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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: Autosomal Recessive Hypotrichosis, also known as hypotrichosis, localized, autosomal recessive, is related to monilethrix and localized autosomal recessive hypotrichosis. An important gene associated with Autosomal Recessive Hypotrichosis is DSG4 (desmoglein 4). Affiliated tissues include skin, and related mouse phenotypes are pigmentation and integument.

Description from OMIM:47 607903

Aliases & Classifications for Autosomal Recessive Hypotrichosis

Sources:
21Genetics Home Reference, 47OMIM, 45Novoseek, 61UMLS
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Aliases & Descriptions:

autosomal recessive hypotrichosis 21
hypotrichosis, localized, autosomal recessive 47 45
hypotrichosis 21 61
autosomal recessive woolly hair with or without hypotrichosis 21
hypotrichosis, localized, autosomal recessive, 2 61
hypotrichosis, localized, autosomal recessive 1 61
autosomal recessive localized hypotrichosis 21
total hypotrichosis, mari type 21
hypotrichoses 21
lah 21
htl 21
ah 21


Related Diseases for Autosomal Recessive Hypotrichosis

Sources:
17GeneCards, 18GeneDecks
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Diseases in the Autosomal Recessive Hypotrichosis family:

localized autosomal recessive hypotrichosis hypotrichosis, localized, autosomal recessive 2

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

(show top 50)    (show all 305)
idRelated DiseaseScoreTop Affiliating Genes
1monilethrix30.3LIPH, DSG4, KRT83
2localized autosomal recessive hypotrichosis10.6
3macular dystrophy10.4
4juvenile macular degeneration and hypotrichosis10.3
5hypotrichosis simplex10.3
6woolly hair, autosomal recessive10.3
7metaphyseal dysplasia without hypotrichosis10.3
8hypotrichosis-lymphedema-telangiectasia syndrome10.3
9marie unna congenital hypotrichosis10.3
10hypotrichosis simplex of scalp 110.3
11woolly hair hypotrichosis everted lower lip and outstanding ears10.2
12spondyloepimetaphyseal dysplasia with hypotrichosis10.2
13hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome10.2
14ichthyosis with hypotrichosis, autosomal recessive10.2
15hypotrichosis, hereditary, marie unna type, 110.2
16hypotrichosis simplex of the scalp 210.2
17hepatitis c10.2
18hepatitis d10.2
19total hypotrichosis, mari type10.2
20congenital hypotrichosis milia10.2
21hypotrichosis 1110.2
22anodontia10.1
23basal cell carcinoma10.1
24ectodermal dysplasia10.1
25ichthyosis with hypotrichosis10.1
26alopecia10.1
27hypotrichosis 210.1
28hypotrichosis 1010.1
29hypotrichosis 810.1
30hepatitis b10.1
31alcoholic hepatitis10.1
32hepatitis a10.1
33atherosclerosis10.1
34complement receptor deficiency10.1
35hypoxia10.1
36cartilage-hair hypoplasia10.1
37hallermann-streiff syndrome10.1
38brachymetapody anodontia hypotrichosis albinoidism10.1
39schopf-schulz-passarge syndrome10.1
40retroperitoneal liposarcoma10.0
41hypohidrosis10.0
42hypotrichosis of eyelid10.0
43follicular basal cell carcinoma10.0
44roberts syndrome10.0
45short syndrome10.0
46ichthyosis, follicular10.0
47leukomelanoderma mental redardation hypotrichosis10.0
48keratoderma10.0
49ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant10.0
50short stature, onychodysplasia, facial dysmorphism, and hypotrichosis10.0

Graphical network of the top 20 diseases related to Autosomal Recessive Hypotrichosis:



Diseases related to autosomal recessive hypotrichosis

Clinical Features for Autosomal Recessive Hypotrichosis

Sources:
47OMIM
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Clinical features from OMIM:

607903

Clinical synopsis from OMIM:

607903

Drugs & Therapeutics for Autosomal Recessive Hypotrichosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Autosomal Recessive Hypotrichosis

Drug clinical trials:

Search ClinicalTrials for Autosomal Recessive Hypotrichosis

Search NIH Clinical Center for Autosomal Recessive Hypotrichosis

Search CenterWatch for Autosomal Recessive Hypotrichosis

Genetic Tests for Autosomal Recessive Hypotrichosis

Anatomical Context for Autosomal Recessive Hypotrichosis

Sources:
33MalaCards
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MalaCards organs/tissues related to Autosomal Recessive Hypotrichosis:

33
Skin

Animal Models for Autosomal Recessive Hypotrichosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Autosomal Recessive Hypotrichosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1DSG4, LIPH
2MP:00107718.8DSG4, LIPH

Publications for Autosomal Recessive Hypotrichosis

Sources:
51PubMed
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Articles related to Autosomal Recessive Hypotrichosis:

(show all 50)
idTitleAuthorsYear
1
Homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient. (24354445)
2013
2
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
3
A novel deletion mutation in the LPAR6 gene underlies autosomal recessive woolly hair with hypotrichosis. (23773027)
2013
4
A novel mutation, c.699C>G (p.C233W), in the LIPH gene leads to a loss of the hydrolytic activity and the LPA6 activation ability of PA-PLA1I+ in autosomal recessive wooly hair/hypotrichosis. (23768866)
2013
5
The I^9 loop domain of PA-PLA1I+ has a crucial role in autosomal recessive woolly hair/hypotrichosis. (22475755)
2012
6
A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families. (22440536)
2012
7
A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair. (23066499)
2012
8
A novel mutation in lysophosphatidic acid receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect. (22531990)
2012
9
Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan. (21426374)
2011
10
Mutations in two genes on chromosome 13 resulting in a complex hair and skin phenotype due to two rare genodermatoses: KLICK and autosomal recessive woolly hair/hypotrichosis simplex. (21275938)
2011
11
A novel mutation in LPAR6 causes autosomal recessive hypotrichosis of the scalp. (21070332)
2011
12
Marie-Unna hereditary hypotrichosis or autosomal recessive hereditary hypotrichosis with woolly hair: the diagnostic dilemma of labeling cases with hypotrichosis. (22082473)
2011
13
Hair shaft abnormalities in localized autosomal recessive hypotrichosis 2 and a review of other non-syndromic human alopecias. (21537821)
2011
14
Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees. (20528890)
2011
15
Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis. (20213768)
2010
16
Mapping of a novel autosomal recessive hypotrichosis locus on chromosome 10q11.23a8922.3. (20054564)
2010
17
A novel deletion mutation in P2RY5/LPA(6) gene cause autosomal recessive woolly hair with hypotrichosis. (20015179)
2010
18
Mutations in lipase H gene underlie autosomal recessive hypotrichosis in five Pakistani families. (20107739)
2010
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
Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. (18830268)
2009
23
A novel deletion mutation in the phospholipase H (LIPH) gene in a consanguineous Pakistani family with autosomal recessive hypotrichosis (LAH2). (18795930)
2009
24
The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis. (19365138)
2009
25
Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair. (19766349)
2009
26
Autosomal recessive woolly hair with hypotrichosis caused by a novel homozygous mutation in the P2RY5 gene. (18803659)
2009
27
Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2). (19167195)
2009
28
A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families. (18820939)
2009
29
A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2). (18445047)
2008
30
Genome-wide linkage analysis of an autosomal recessive hypotrichosis identifies a novel P2RY5 mutation. (18692127)
2008
31
Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype. (18445049)
2008
32
Involvement of receptor P2Y5 and its ligand LPA in hypotrichosis simplex and autosomal recessive wooly hair syndrome]. (19061667)
2008
33
Mutation G827R in matriptase causing autosomal recessive ichthyosis with hypotrichosis yields an inactive protease. (18263585)
2008
34
Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3). (18461368)
2008
35
Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family. (17392831)
2007
36
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis. (17333281)
2007
37
Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32. (17594396)
2007
38
Recessive autosomal ichthyosis with hypotrichosis with mutation in the ST14 gene]. (17978729)
2007
39
Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase. (17273967)
2007
40
Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. (16543896)
2006
41
Recurrent intragenic deletion mutation in desmoglein 4 gene underlies autosomal recessive hypotrichosis in two Pakistani families of Balochi and Sindhi origins. (16770573)
2006
42
An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. (16575393)
2006
43
A missense mutation in the cadherin interaction site of the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. (16297213)
2005
44
Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats. (16382669)
2005
45
A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis. (15191570)
2004
46
A recurrent intragenic deletion in the desmoglein 4 gene underlies localized autosomal recessive hypotrichosis. (15304105)
2004
47
A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33-q27.3. (15520410)
2004
48
Unusual association of juvenile macular dystrophy with congenital hypotrichosis: occurrence in two siblings suggesting autosomal recessive inheritance. (7648037)
1995
49
An autosomal recessive ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, catartact, and other manifestations. (7304669)
1981
50
Syndrome of cystic eyelids, palmo-plantar keratosis, hypodontia and hypotrichosis as a possible autosomal recessive trait. (4281327)
1971

Genetic Variations for Autosomal Recessive Hypotrichosis

Expression for genes affiliated with Autosomal Recessive Hypotrichosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Autosomal Recessive Hypotrichosis

Search GEO for disease gene expression data for Autosomal Recessive Hypotrichosis.

Pathways for genes affiliated with Autosomal Recessive Hypotrichosis

Compounds for genes affiliated with Autosomal Recessive Hypotrichosis

GO Terms for genes affiliated with Autosomal Recessive Hypotrichosis

Sources:
16Gene Ontology
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Cellular components related to Autosomal Recessive Hypotrichosis according to GeneCards/GeneDecks:

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

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Sources for Autosomal Recessive Hypotrichosis

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet