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HYPT7
MCID: HYP575
MIFTS: 43

Hypotrichosis 7 (HYPT7)

Categories: Eye diseases, Genetic diseases, Oral diseases, Rare diseases
Genes Variations Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hypotrichosis 7

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MalaCards integrated aliases for Hypotrichosis 7:

Name: Hypotrichosis 7 57 12 73 29 6 15
Woolly Hair, Autosomal Recessive 2, with or Without Hypotrichosis 29 6 17 71
Total Hypotrichosis, Mari Type 20 43 39 71
Hypotrichosis, Localized, Autosomal Recessive 2 57 12 13
Hypt7 57 12 73
Lah2 57 12 73
Ah 57 43 73
Wh/ht 73 71
Woolly Hair, Autosomal Recessive 2 with or Without Hypotrichosis 57
Woolly Hair Autosomal Recessive 2 with or Without Hypotrichosis 73
Autosomal Recessive Woolly Hair with or Without Hypotrichosis 43
Hypotrichosis, Localized, Autosomal Recessive 2; Lah2 57
Hypotrichosis Localized Autosomal Recessive 2 73
Autosomal Recessive Localized Hypotrichosis 43
Alopecia Universalis Congenita, Mari Type 20
Mari Type Alopecia Universalis Congenita 20
Alopecia Universalis Congenita Mari Type 73
Hypotrichosis, Autosomal Recessive; Ah 57
Hypotrichosis, Autosomal Recessive 57
Autosomal Recessive Hypotrichosis 43
Hypotrichosis Autosomal Recessive 73
Woolly Hair Autosomal Recessive 2 73
Hypotrichosis, Total, Mari Type 57
Total Mari Type Hypotrichosis 12
Total Hypotrichosis Mari Type 73
Hypotrichosis 43
Hypotrichoses 43
Arwh2 73
Lah 43
Htl 43

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype ranging from woolly to sparse hair, even within a single family


HPO:

31
hypotrichosis 7:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Oral diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0110704
OMIM® 57 604379
OMIM Phenotypic Series 57 PS605389
UMLS 71 C1836672 C3148823 C3148824
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Summaries for Hypotrichosis 7

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MedlinePlus Genetics : 43 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.Rarely, people with autosomal recessive hypotrichosis have skin problems affecting areas with sparse hair, such as redness (erythema), itchiness (pruritus), or missing patches of skin (erosions) on the scalp. In areas of poor hair growth, they may also develop bumps called hyperkeratotic follicular papules that develop around hair follicles, which are specialized structures in the skin where hair growth occurs.

MalaCards based summary : Hypotrichosis 7, also known as woolly hair, autosomal recessive 2, with or without hypotrichosis, is related to hypotrichosis, congenital, with juvenile macular dystrophy and hypotrichosis 3. An important gene associated with Hypotrichosis 7 is LIPH (Lipase H), and among its related pathways/superpathways is Keratinization. The drugs Bimatoprost and Minoxidil have been mentioned in the context of this disorder. Related phenotypes are woolly hair and sparse hair

Disease Ontology : 12 A hypotrichosis that has material basis in a autosomal recessive mutation of LIPH on chromosome 3q27.2.

UniProtKB/Swiss-Prot : 73 Hypotrichosis 7: A condition characterized by the presence of less than the normal amount of hair. Affected individuals have sparse or absent scalp, axillary and body hair and sparse eyebrows and eyelashes. HYPT7 inheritance is autosomal recessive.
Woolly hair autosomal recessive 2: A hair shaft disorder characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, woolly hair grows slowly and stops growing after a few inches. Under light microscopy, woolly hair shows some structural anomalies, including trichorrhexis nodosa and tapered ends. Some individuals may present with hypotrichosis.

More information from OMIM: 604379 PS605389
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Related Diseases for Hypotrichosis 7

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Diseases in the Hypotrichosis family:

Hypotrichosis 2 Hypotrichosis 4
Hypotrichosis 8 Hypotrichosis 7
Hypotrichosis 1 Hypotrichosis 6
Hypotrichosis 5 Hypotrichosis 3
Hypotrichosis 9 Hypotrichosis 10
Hypotrichosis 11 Hypotrichosis 12
Hypotrichosis 13 Hypotrichosis 14

Diseases related to Hypotrichosis 7 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 255)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis, congenital, with juvenile macular dystrophy 32.3 LIPH KRT74 DSG4
2 hypotrichosis 3 32.3 LPAR6 LIPH KRT74
3 hypotrichosis 4 31.7 SNRPE LPAR6 LIPH KRT74
4 ectodermal dysplasia 9, hair/nail type 31.6 KRT74 DSG4
5 hypotrichosis 13 31.6 LPAR6 LIPH LIPC KRT25 DSG4
6 ectodermal dysplasia 7, hair/nail type 31.3 KRT74 DSG4
7 hypotrichosis 11 31.2 SNRPE LPAR6 LIPH KRT74 DSG4
8 ectodermal dysplasia 6, hair/nail type 31.2 KRT74 DSG4
9 ectodermal dysplasia 5, hair/nail type 31.2 KRT74 DSG4
10 ectodermal dysplasia 4, hair/nail type 31.0 LPAR6 LIPH KRT74 DSG4
11 monilethrix 30.8 LPAR6 LIPH KRT74 KRT25 DSG4
12 familial woolly hair syndrome 30.7 LPAR6 LIPH LIPC KRT74 KRT25 DSG4
13 woolly hair, autosomal dominant 29.6 LPAR6 LIPH KRT74 KRT25
14 hair disease 29.5 LPAR6 LIPH KRT74 DSG4
15 hypotrichosis simplex 28.9 SNRPE LPAR6 LIPH KRT25 DSG4
16 hypotrichosis 6 28.6 TMEM41A SNRPE LPAR6 LIPH KRT74 DSG4
17 hypotrichosis 28.5 SNRPE LPAR6 LIPH LIPC KRT74 KRT25
18 hypotrichosis 8 28.3 TMEM41A SNRPE LPAR6 LIPH KRT74 KRT25
19 hypotrichosis 2 11.6
20 hypotrichosis-lymphedema-telangiectasia syndrome 11.6
21 hypotrichosis 5 11.6
22 hypotrichosis 1 11.6
23 schopf-schulz-passarge syndrome 11.5
24 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 11.5
25 marie unna congenital hypotrichosis 11.5
26 ichthyosis, congenital, autosomal recessive 11 11.5
27 hypotrichosis and recurrent skin vesicles 11.5
28 metaphyseal dysplasia without hypotrichosis 11.5
29 hypotrichosis 14 11.5
30 hypotrichosis 12 11.4
31 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 11.4
32 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 11.4
33 spondyloepimetaphyseal dysplasia with hypotrichosis 11.4
34 hypotrichosis 10 11.3
35 bazex syndrome 11.3
36 hypotrichosis 9 11.3
37 palmoplantar keratoderma and congenital alopecia 1 11.3
38 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 11.2
39 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 11.2
40 woolly hair, autosomal recessive 3 11.2
41 brachymetapody-anodontia-hypotrichosis-albinoidism 11.1
42 woolly hair, hypotrichosis, everted lower lip, and outstanding ears 11.1
43 rombo syndrome 11.1
44 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 11.1
45 hypotrichosis simplex of the scalp 11.1
46 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 11.0
47 ectodermal dysplasia 15, hypohidrotic/hair type 11.0
48 ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis 11.0
49 leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis 11.0
50 roberts-sc phocomelia syndrome 11.0

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



Diseases related to Hypotrichosis 7
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Symptoms & Phenotypes for Hypotrichosis 7

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Human phenotypes related to Hypotrichosis 7:

31
# Description HPO Frequency HPO Source Accession
1 woolly hair 31 occasional (7.5%) HP:0002224
2 sparse hair 31 HP:0008070
3 sparse eyelashes 31 HP:0000653
4 comedo 31 HP:0025249
5 sparse and thin eyebrow 31 HP:0000535

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
sparse eyelashes
sparse eyebrows

Skin Nails Hair Nails:
normal nails

Skin Nails Hair Hair:
twisted hair shaft
sparse scalp hair from birth (in some patients)
woolly hair (in some patients)
sparse to no eyebrows (in some patients)
sparse to no eyelashes (in some patients)
more
Skin Nails Hair Skin:
normal skin
normal sweating

Head And Neck Teeth:
normal teeth

Clinical features from OMIM®:

604379 (Updated 05-Mar-2021)

Sources

Drugs & Therapeutics for Hypotrichosis 7

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Drugs for Hypotrichosis 7 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
2
Minoxidil Approved, Investigational Phase 4 38304-91-5 4201
3 Antihypertensive Agents Phase 4
4 Pharmaceutical Solutions Phase 4
5 Ophthalmic Solutions Phase 4
6 Vasodilator Agents Phase 4
7 Anti-Infective Agents Phase 2
8 Anti-Bacterial Agents Phase 2
9 Gentamicins Phase 2
10 Orange Approved
11
Glycerol Approved, Investigational 56-81-5 753
12
Zinc Approved, Investigational 7440-66-6 32051
13
Dihydrotachysterol Approved 67-96-9 5281010 5311071
14
Tocopherol Approved, Investigational 1406-66-2
15
Capsaicin Approved 404-86-4 1548943
16
Vitamin C Approved, Nutraceutical 50-81-7 5785 54670067
17
Biotin Approved, Investigational, Nutraceutical 58-85-5 171548
18
Vitamin E Approved, Nutraceutical, Vet_approved 59-02-9 14985
19
Saw palmetto Experimental, Investigational
20 Tocotrienol Investigational 6829-55-6
21
Piperine Investigational 94-62-2 638024
22 Vitamins
23 Nutrients
24 Vitamin B7
25 Anti-Inflammatory Agents
26 Hormones
27 Antioxidants
28 Ashwagandha
29 Saw palmetto extract
30 Tocotrienols
31 Tocopherols
32 Maca

Interventional clinical trials:

(show all 25)
# Name Status NCT ID Phase Drugs
1 Latisse(Bimatoprost .03% Opthalmic Solution) for the Treatment of Hypotrichosis of the Eyebrows: Latisse Versus Placebo Completed NCT01387906 Phase 4 topical bimatoprost
2 Safety and Efficacy of Bimatoprost Solution in Treating Eyelash Loss or Hypotrichosis in Children Completed NCT01023841 Phase 4 bimatoprost ophthalmic solution 0.03%;Vehicle Sterile Solution
3 Safety and Efficacy of Bimatoprost 0.03% Solution for the Treatment of Eyebrow Hypotrichosis: A Phase 4 Investigator Initiated Study Completed NCT01891487 Phase 4 Track A;Track B
4 Study of Bimatoprost Solution in Increasing Eyelash Prominence in African Americans With Eyelash Hypotrichosis Completed NCT00958035 Phase 4 bimatoprost ophthalmic 0.03% solution;vehicle sterile solution (placebo)
5 Safety and Efficacy of LATISSE® in the Augmentation of Eyelashes of Korean Subjects Completed NCT01229423 Phase 4 bimatoprost 0.03%
6 Study Assessing Patient Satisfaction With LATISSE® for Increasing Eyelash Prominence Completed NCT01448525 Phase 4 bimatoprost ophthalmic solution 0.03%;bimatoprost vehicle solution
7 Minoxidil 1% for Eyebrow Enhancement: A Randomized , Double-blind , Placebo-controlled , Split-face Comparative Study Completed NCT01924000 Phase 4 Minoxidil lotion 1%;Placebo
8 Efficacy and Tolerability of Minoxidil 2% for Eyebrow Enhancement : A Randomized , Double-blind , Placebo-controlled , Split-face Comparative Study Completed NCT01672307 Phase 4 Minoxidil lotion 2%;Placebo
9 A Multicenter, Double-masked, Randomized, Parallel-group Study Assessing the Safety and Efficacy of Once-Daily Application of Bimatoprost Solution 0.03% Compared to Vehicle in Increasing Overall Eyelash Prominence in Japanese Subjects With Hypotrichosis of the Eyelashes Completed NCT01391273 Phase 3 bimatoprost solution 0.03%;bimatoprost vehicle solution
10 A Multicenter, Double-masked, Randomized, Parallel-group Study Assessing the Safety and Efficacy of Once-daily Application of Bimatoprost Solution 0.03% Compared to Vehicle to Treat Chemotherapy-induced Hypotrichosis of the Eyelashes in Japanese Subjects Completed NCT01391286 Phase 3 bimatoprost solution 0.03%;bimatoprost vehicle solution
11 Bimatoprost for the Treatment of Eyebrow Hypotrichosis Completed NCT01765764 Phase 3 bimatoprost solution;Vehicle to bimatoprost solution
12 Bimatoprost in the Treatment of Eyelash Hypotrichosis Completed NCT01698554 Phase 3 bimatoprost formulation A solution;bimatoprost solution 0.03 %;vehicle of bimatoprost formulation A solution;vehicle of bimatoprost solution 0.03 %
13 Safety and Efficacy Study of Bimatoprost to Treat Hypotrichosis of the Eyelashes After Application to the Eyelid Margin Completed NCT00907426 Phase 3 Bimatoprost 0.03% solution;Vehicle solution
14 The Role of Bimatoprost Eyelash Gel in Chemotherapy-induced Madarosis: an Analysis of Efficacy and Safety Completed NCT01200251 Phase 3 Bimatoprost eyelash gel
15 The Efficacy of Topical Gentamycin for the Treatment of Hereditary Hypotrichosis Simplex Caused by Heterozygous Nonsense Mutations in CDSN Encoding Corneodesmosin Unknown status NCT03492866 Phase 2 Gentamicin Sulfate
16 Safety and Efficacy of Bimatoprost Ophthalmic Solution in Increasing Eyelash Prominence Completed NCT01064882 Phase 2 bimatoprost ophthalmic solution 0.005%;bimatoprost ophthalmic solution 0.015%;bimatoprost ophthalmic solution 0.03%
17 A Pilot Clinical Trial Investigating the Effect of Autologous Platelet-rich Plasma in Subjects With Mild to Moderate Eyebrow Hypotrichosis Recruiting NCT04018859 Phase 2 Saline
18 An Observational Study of Patients Treated With Bimatoprost 0.03% (Latisse®) for Hypotrichosis of the Eyelashes Completed NCT01623479 bimatoprost 0.03%
19 Safety and Patient Satisfaction With GLASH VISTAâ„¢ (Bimatoprost 0.03%) in the Treatment of Eyelash Hypotrichosis in Japan Completed NCT02505776 Bimatoprost cutaneous solution 0.03%
20 A Multi-Center, Randomized, Double-Blind, Placebo-Controlled Clinical Study to Evaluate the Efficacy of the New Viviscal Professional Strength Oral Supplement in Females With Self-Perceived Thinning Hair Completed NCT02302053
21 A Multi-site, Double-blind, Placebo-controlled Clinical Study to Evaluate the Effects of Viviscal Oral Supplements When Used by Females With Self-perceived Thinning Hair Completed NCT02288858
22 A 3-Month, Randomized, Double-Blind, Placebo-Controlled Study Evaluating The Ability Of Viviscal Extra-Strength Formulation To Promote Hair Growth And Decrease Shedding In Women With Self-Perceived Thinning Hair Completed NCT02297360
23 A 6-Month, Randomized, Double-Blind, Placebo-Controlled Study Evaluating the Ability and Safety of a Nutraceutical Supplement With Standardized Botanicals to Promote Hair Growth in Women With Self-Perceived Thinning Hair Completed NCT03206567
24 A Randomized, Double-Blind, Placebo-Controlled Study Evaluating The Ability And Safety Of A Nutraceutical Supplement With Standardized Botanicals To Promote Hair Growth In Perimenopausal, Menopausal And Post-Menopausal Women With Self-Perceived Thinning Hair Recruiting NCT04048031
25 A Double-Blind, Randomized, Placebo-Controlled Study to Evaluate the Safety and Efficacy of an Oral Nutraceutical Supplement With Standardized Botanicals in Males With Self-Perceived Thinning Hair and Loss Active, not recruiting NCT03709563

Search NIH Clinical Center for Hypotrichosis 7

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Genetic Tests for Hypotrichosis 7

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Genetic tests related to Hypotrichosis 7:

# Genetic test Affiliating Genes
1 Hypotrichosis 7 29 LIPH
2 Woolly Hair, Autosomal Recessive 2, with or Without Hypotrichosis 29
Sources

Anatomical Context for Hypotrichosis 7

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Publications for Hypotrichosis 7

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Articles related to Hypotrichosis 7:

(show all 11)
# Title Authors PMID Year
1
Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan. 6 57
21426374 2011
2
Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. 6 57
18830268 2009
3
The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis. 6 57
19365138 2009
4
A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2). 6 57
18445047 2008
5
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis. 6 57
17333281 2007
6
Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH. 6 57
17095700 2006
7
Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis. 57
19892526 2009
8
Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32. 57
17594396 2007
9
A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33-q27.3. 57
15520410 2004
10
Total hypotrichosis: genetic form of alopecia not linked to hairless gene. 57
10509509 1999
11
Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles. 61
26902920 2016
Sources

Variations for Hypotrichosis 7

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ClinVar genetic disease variations for Hypotrichosis 7:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LIPH LIPH, 90-BP DUP, NT280 Duplication Pathogenic 3306
2 LIPH NM_139248.3(LIPH):c.322T>C (p.Trp108Arg) SNV Pathogenic 3305 rs267607219 3:185252648-185252648 3:185534860-185534860
3 LIPH NM_139248.3(LIPH):c.742C>A (p.His248Asn) SNV Pathogenic 30669 rs201868115 3:185237074-185237074 3:185519286-185519286
4 LIPH NM_139248.3(LIPH):c.736T>A (p.Cys246Ser) SNV Pathogenic 225403 rs201249971 3:185237080-185237080 3:185519292-185519292
5 LIPH LIPH, EXONS 7-8 DEL Deletion Pathogenic 3304
6 LIPH LIPH, EXONS 7-8 DEL Deletion Pathogenic 3304
7 LIPH NM_139248.3(LIPH):c.659_660del (p.Ile220fs) Deletion Pathogenic 3303 rs559648418 3:185241917-185241918 3:185524129-185524130
8 LIPH NM_139248.3(LIPH):c.659_660del (p.Ile220fs) Deletion Pathogenic 3303 rs559648418 3:185241917-185241918 3:185524129-185524130
9 LIPH LIPH, 5-BP DEL, NT346 Deletion Pathogenic 3302
10 LIPH LIPH, EX4 DEL Deletion Pathogenic 3301
11 LIPH NM_139248.3(LIPH):c.736T>A (p.Cys246Ser) SNV Likely pathogenic 225403 rs201249971 3:185237080-185237080 3:185519292-185519292

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

73
# Symbol AA change Variation ID SNP ID
1 LIPH p.Trp108Arg VAR_059050 rs267607219

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Expression for Hypotrichosis 7

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Search GEO for disease gene expression data for Hypotrichosis 7.
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Pathways for Hypotrichosis 7

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Pathways related to Hypotrichosis 7 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Keratinization 65
Show member pathways
 11.25 KRT74 KRT25 DSG4
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GO Terms for Hypotrichosis 7

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Biological processes related to Hypotrichosis 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.43 KRT74 KRT25 DSG4
2 fatty acid biosynthetic process GO:0006633 9.32 LIPH LIPC
3 triglyceride catabolic process GO:0019433 9.16 LIPH LIPC
4 hair cycle GO:0042633 8.96 SNRPE KRT25
5 cornification GO:0070268 8.8 KRT74 KRT25 DSG4

Molecular functions related to Hypotrichosis 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carboxylic ester hydrolase activity GO:0052689 9.32 LIPH LIPC
2 phospholipase activity GO:0004620 9.26 LIPH LIPC
3 triglyceride lipase activity GO:0004806 9.16 LIPH LIPC
4 lipase activity GO:0016298 8.96 LIPH LIPC
5 lipoprotein lipase activity GO:0004465 8.62 LIPH LIPC
Sources

Sources for Hypotrichosis 7

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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