Hypotrichosis 7 malady

Genetic diseases (common) category

Aliases & Classifications for Hypotrichosis 7

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Hypotrichosis 7, Aliases & Descriptions:

Name: Hypotrichosis 7 45
Total Hypotrichosis, Mari Type 21 60
Hypotrichosis 21 60
Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis 45
Autosomal Recessive Woolly Hair with or Without Hypotrichosis 21
Hypotrichosis, Localized, Autosomal Recessive 2 10
Autosomal Recessive Localized Hypotrichosis 21
Autosomal Recessive Hypotrichosis 21
Left Atrial Hypertrophy 60
Hypotrichosis 6 60
Hypotrichoses 21
Htl 21
Lah 21
Ah 21


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

External Ids:

OMIM45 604379

Summaries for Hypotrichosis 7

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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: Hypotrichosis 7, also known as total hypotrichosis, mari type, 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:45 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 Suite gene sharing:

(show top 50)    (show all 278)
idRelated DiseaseScoreTop Affiliating Genes
2metaphyseal dysplasia without hypotrichosis10.4
3hypotrichosis simplex of the scalp10.4
4marie unna congenital hypotrichosis10.4
5hypotrichosis simplex10.4
6juvenile macular degeneration and hypotrichosis10.4
7hypotrichosis-lymphedema-telangiectasia syndrome10.4
8woolly hair hypotrichosis everted lower lip and outstanding ears10.4
9hypotrichosis 310.3
10hypotrichosis 610.3
11hypotrichosis 110.3
12spondyloepimetaphyseal dysplasia with hypotrichosis10.3
13short stature, onychodysplasia, facial dysmorphism, and hypotrichosis10.3
15total hypotrichosis, mari type10.2
16hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome10.2
17ichthyosis-hypotrichosis syndrome10.2
18hypotrichosis 410.2
19ichthyosis, congenital, autosomal recessive 1110.2
20bazex syndrome10.2
21erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper ige10.2
22ectodermal dysplasia10.2
23hypotrichosis 510.2
24hypotrichosis 1110.2
25ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive10.2
26schopf-schulz-passarge syndrome10.2
27hypotrichosis 1010.2
28hypotrichosis 910.2
29hypotrichosis, congenital, with juvenile macular dystrophy10.2
31hypotrichosis of eyelid10.2
33hallermann-streiff syndrome10.2
34basal cell carcinoma10.2
35brachymetapody anodontia hypotrichosis albinoidism10.2
36congenital hypotrichosis milia10.1
37leukomelanoderma mental redardation hypotrichosis10.1
39hypotrichosis-deafness syndrome10.1
40hypotrichosis 210.1
41hypotrichosis 810.1
44retroperitoneal liposarcoma10.1
45ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant10.1
46ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis10.1
47roberts syndrome10.1
48cartilage-hair hypoplasia10.1
49ectodermal dysplasia 9, hair/nail type10.1
50hypotrichosis 1310.1

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:


Clinical features from OMIM:


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:

id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Hypotrichosis 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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hypotrichosis 7

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26ICD10 via Orphanet
34MESH via Orphanet
46OMIM via Orphanet
56SNOMED-CT via Orphanet
61UMLS via Orphanet