AH
MCID: ATS061
MIFTS: 26

Autosomal Recessive Hypotrichosis (AH) malady

Summaries for Autosomal Recessive Hypotrichosis

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21Genetics Home Reference, 46OMIM, 32MalaCards
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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 hypotrichosis and monilethrix. 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:46 607903

Aliases & Classifications for Autosomal Recessive Hypotrichosis

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21Genetics Home Reference, 60UMLS, 46OMIM, 44Novoseek
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Aliases & Descriptions:

autosomal recessive hypotrichosis 21
hypotrichosis, localized, autosomal recessive 46 44
hypotrichosis 21 60
autosomal recessive woolly hair with or without hypotrichosis 21
hypotrichosis, localized, autosomal recessive, 2 60
hypotrichosis, localized, autosomal recessive 1 60
autosomal recessive localized hypotrichosis 21
total hypotrichosis, mari type 21
hypotrichoses 21
htl 21
lah 21
ah 21


Related Diseases for Autosomal Recessive Hypotrichosis

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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 296)
idRelated DiseaseScoreTop Affiliating Genes
1hypotrichosis31.1DSG4, LIPH, LPAR6
2monilethrix30.3LIPH, DSG4, KRT83
3breast cancer10.4
4hypotrichosis simplex10.3
5juvenile macular degeneration and hypotrichosis10.3
6hepatitis10.3
7metaphyseal dysplasia without hypotrichosis10.3
8hypotrichosis simplex of scalp 110.3
9marie unna congenital hypotrichosis10.2
10hypotrichosis-lymphedema-telangiectasia syndrome10.2
11localized autosomal recessive hypotrichosis10.2
12woolly hair hypotrichosis everted lower lip and outstanding ears10.2
13spondyloepimetaphyseal dysplasia with hypotrichosis10.2
14hepatitis a10.2
15ichthyosis with hypotrichosis, autosomal recessive10.2
16hypotrichosis, hereditary, marie unna type, 110.2
17hypotrichosis simplex of the scalp 210.2
18hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome10.2
19total hypotrichosis, mari type10.2
20hypotrichosis 1110.2
21anodontia10.1
22basal cell carcinoma10.1
23ichthyosis with hypotrichosis10.1
24alopecia10.1
25hypotrichosis 810.1
26cartilage-hair hypoplasia10.1
27hypotrichosis of eyelid10.1
28hallermann-streiff syndrome10.1
29lymphedema10.1
30brachymetapody anodontia hypotrichosis albinoidism10.1
31schopf-schulz-passarge syndrome10.1
32alcoholic hepatitis10.1
33atherosclerosis10.1
34complement deficiency10.1
35diabetes mellitus10.1
36lung cancer10.1
37liposarcoma10.0
38hypohidrosis10.0
39follicular basal cell carcinoma10.0
40roberts syndrome10.0
41cataract10.0
42keratosis10.0
43congenital hypotrichosis milia10.0
44leukomelanoderma mental redardation hypotrichosis10.0
45ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant10.0
46short stature, onychodysplasia, facial dysmorphism, and hypotrichosis10.0
47hypotrichosis and recurrent skin vesicles10.0
48mycosis fungoides10.0
49cutaneous t cell lymphoma10.0
50idiopathic generalized epilepsy10.0

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



Diseases related to autosomal recessive hypotrichosis

Clinical Features for Autosomal Recessive Hypotrichosis

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46OMIM
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Clinical features from OMIM:

607903

Clinical synopsis from OMIM:

607903

Drugs & Therapeutics for Autosomal Recessive Hypotrichosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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Anatomical Context for Autosomal Recessive Hypotrichosis

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32MalaCards
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MalaCards organs/tissues related to Autosomal Recessive Hypotrichosis:

32
Skin

Animal Models for Autosomal Recessive Hypotrichosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Autosomal Recessive Hypotrichosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1DSG4, LIPH
2MP:00107718.8DSG4, LIPH

Publications for Autosomal Recessive Hypotrichosis

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Genetic Variations for Autosomal Recessive Hypotrichosis

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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

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Compounds for genes affiliated with Autosomal Recessive Hypotrichosis

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GO Terms for genes affiliated with Autosomal Recessive Hypotrichosis

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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

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet