MCID: HYP575
MIFTS: 28

Hypotrichosis 7 malady

Genetic diseases (common) category

Summaries for Hypotrichosis 7

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Genetics Home Reference:23 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: Hypotrichosis 7, also known as woolly hair, autosomal recessive 2 with or without hypotrichosis, is related to hypotrichosis and metaphyseal dysplasia without hypotrichosis, and has symptoms including woolly hair, autosomal recessive inheritance and sparse eyebrow. An important gene associated with Hypotrichosis 7 is LIPH (lipase, member H).

Description from OMIM:47 604379

Aliases & Classifications for Hypotrichosis 7

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Hypotrichosis 7, Aliases & Descriptions:

Name: Hypotrichosis 7 47 62
Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis 47
Autosomal Recessive Woolly Hair with or Without Hypotrichosis 23
Hypotrichosis, Localized, Autosomal Recessive 2 11
Autosomal Recessive Localized Hypotrichosis 23
Autosomal Recessive Hypotrichosis 23
 
Total Hypotrichosis, Mari Type 23
Hypotrichosis 23
Hypotrichoses 23
Lah 23
Htl 23
Ah 23


Classifications:

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


External Ids:

OMIM47 604379

Related Diseases for Hypotrichosis 7

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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 7 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 278)
idRelated DiseaseScoreTop Affiliating Genes
1hypotrichosis10.9
2metaphyseal dysplasia without hypotrichosis10.4
3hypotrichosis simplex of the scalp10.4
4hypotrichosis simplex10.4
5marie unna congenital hypotrichosis10.4
6juvenile macular degeneration and hypotrichosis10.4
7hypotrichosis-lymphedema-telangiectasia syndrome10.4
8woolly hair hypotrichosis everted lower lip and outstanding ears10.4
9hypotrichosis 610.3
10hypotrichosis 310.3
11total hypotrichosis, mari type10.3
12hypotrichosis 110.3
13spondyloepimetaphyseal dysplasia with hypotrichosis10.3
14monilethrix10.2
15hypotrichosis 410.2
16hypotrichosis 1110.2
17short stature, onychodysplasia, facial dysmorphism, and hypotrichosis10.2
18bazex syndrome10.2
19ectodermal dysplasia10.2
20hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome10.2
21ichthyosis-hypotrichosis syndrome10.2
22ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive10.2
23schopf-schulz-passarge syndrome10.2
24ichthyosis, congenital, autosomal recessive 1110.2
25erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper ige10.2
26lymphedema10.2
27anodontia10.2
28hallermann-streiff syndrome10.2
29basal cell carcinoma10.2
30hypotrichosis 510.1
31hypotrichosis 1010.1
32roberts syndrome10.1
33hypotrichosis 910.1
34hypotrichosis, congenital, with juvenile macular dystrophy10.1
35hypotrichosis of eyelid10.1
36brachymetapody anodontia hypotrichosis albinoidism10.1
37keratoderma10.1
38hypotrichosis 210.1
39hypotrichosis 810.1
40alopecia10.1
41liposarcoma10.1
42retroperitoneal liposarcoma10.1
43ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant10.1
44ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis10.1
45sc phocomelia syndrome10.1
46cartilage-hair hypoplasia10.1
47ectodermal dysplasia 9, hair/nail type10.1
48cataract10.1
49hypohidrosis10.1
50keratosis10.1

Graphical network of the top 20 diseases related to Hypotrichosis 7:



Diseases related to hypotrichosis 7

Symptoms for Hypotrichosis 7

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Symptoms by clinical synopsis from OMIM:

604379

Clinical features from OMIM:

604379

HPO human phenotypes related to Hypotrichosis 7:

id Description Frequency HPO Source Accession
1 woolly hair rare (5%) HP:0002224
2 autosomal recessive inheritance HP:0000007
3 sparse eyebrow HP:0000535
4 sparse eyelashes HP:0000653

Drugs & Therapeutics for Hypotrichosis 7

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Drug clinical trials:

Search ClinicalTrials for Hypotrichosis 7

Search NIH Clinical Center for Hypotrichosis 7

Genetic Tests for Hypotrichosis 7

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Anatomical Context for Hypotrichosis 7

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Animal Models for Hypotrichosis 7 or affiliated genes

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Publications for Hypotrichosis 7

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Variations for Hypotrichosis 7

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UniProtKB/Swiss-Prot genetic disease variations for Hypotrichosis 7:

64
id Symbol AA change Variation ID SNP ID
1LIPHp.Trp108ArgVAR_059050

Clinvar genetic disease variations for Hypotrichosis 7:

7
id Gene Variation Type Significance SNP ID Assembly Location
1LIPHLIPH, EX4 DELdeletionPathogenic
2LIPHLIPH, 5-BP DEL, NT346deletionPathogenic
3LIPHLIPH, 2-BP DEL, 659TAdeletionPathogenic
4LIPHLIPH, EXONS 7-8 DELdeletionPathogenic

Expression for genes affiliated with Hypotrichosis 7

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Search GEO for disease gene expression data for Hypotrichosis 7.

Pathways for genes affiliated with Hypotrichosis 7

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Compounds for genes affiliated with Hypotrichosis 7

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GO Terms for genes affiliated with Hypotrichosis 7

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Products for genes affiliated with Hypotrichosis 7

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  • Kits and Assays

Sources for Hypotrichosis 7

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet