HYPT7
MCID: HYP575
MIFTS: 49

Hypotrichosis 7 (HYPT7)

Categories: Eye diseases, Genetic diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Hypotrichosis 7

MalaCards integrated aliases for Hypotrichosis 7:

Name: Hypotrichosis 7 57 11 73 28 5 14
Woolly Hair, Autosomal Recessive 2, with or Without Hypotrichosis 28 5 16 71
Hypotrichosis, Localized, Autosomal Recessive 2 57 11 12
Total Hypotrichosis, Mari Type 19 42 71
Hypt7 57 11 73
Lah2 57 11 73
Ah 57 42 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 42
Hypotrichosis Localized Autosomal Recessive 2 73
Autosomal Recessive Localized Hypotrichosis 42
Alopecia Universalis Congenita, Mari Type 19
Mari Type Alopecia Universalis Congenita 19
Alopecia Universalis Congenita Mari Type 73
Hypotrichosis, Autosomal Recessive 57
Autosomal Recessive Hypotrichosis 42
Hypotrichosis Autosomal Recessive 73
Woolly Hair Autosomal Recessive 2 73
Hypotrichosis, Total, Mari Type 57
Total Mari Type Hypotrichosis 11
Total Hypotrichosis Mari Type 73
Hypotrichosis 42
Hypotrichoses 42
Arwh2 73
Lah 42
Htl 42

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable phenotype ranging from woolly to sparse hair, even within a single family


Classifications:



External Ids:

Disease Ontology 11 DOID:0110704
OMIM® 57 604379
OMIM Phenotypic Series 57 PS605389
SNOMED-CT via HPO 69 25159003 52564001
UMLS 71 C1836672 C3148823 C3148824

Summaries for Hypotrichosis 7

MedlinePlus Genetics: 42 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 1 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. Affiliated tissues include skin, bone and bone marrow, and related phenotypes are woolly hair and sparse scalp hair

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.

Disease Ontology: 11 A hypotrichosis that has material basis in a autosomal recessive mutation of LIPH on chromosome 3q27.2.

More information from OMIM: 604379 PS605389

Related Diseases for Hypotrichosis 7

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 300)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 1 32.6 LIPH KRT74
2 hypotrichosis 3 32.1 LPAR6 LIPH KRT74
3 hypotrichosis simplex of the scalp 31.8 KRT74 CDSN
4 hypotrichosis 4 31.8 SNRPE LPAR6 LIPH KRT74
5 hypotrichosis, congenital, with juvenile macular dystrophy 31.7 LPAR6 LIPH DSG4 CDSN
6 woolly hair, autosomal recessive 3 31.5 LPAR6 LIPH KRT25
7 hypotrichosis simplex 31.5 SNRPE LPAR6 LIPH DSG4
8 hypotrichosis 2 31.4 LPAR6 LIPH KRT74 DSG4 CDSN
9 ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome 31.2 DSG4 CDSN
10 ectodermal dysplasia 6, hair/nail type 31.0 KRT74 DSG4
11 ectodermal dysplasia 5, hair/nail type 31.0 KRT74 DSG4
12 ectodermal dysplasia 7, hair/nail type 30.9 KRT74 DSG4
13 ectodermal dysplasia 4, hair/nail type 30.8 LPAR6 LIPH KRT74 DSG4
14 hypotrichosis 11 30.8 SNRPE LPAR6 LIPH KRT74 DSG4 CDSN
15 hypotrichosis 13 30.6 SNRPE LPAR6 LIPH KRT74 KRT25 DSG4
16 monilethrix 30.3 LPAR6 LIPH KRT74 KRT25 DSG4 CDSN
17 woolly hair, autosomal dominant 29.6 LPAR6 LIPH KRT74 KRT25
18 familial woolly hair syndrome 29.6 LPAR6 LIPH KRT74 KRT25 DSG4 CDSN
19 hair disease 29.2 LPAR6 LIPH KRT74 DSG4 CDSN
20 hypotrichosis 6 29.1 SNRPE LPAR6 LIPH KRT74 DSG4
21 atrichia with papular lesions 29.0 LPAR6 LIPH KRT74 DSG4 CDSN
22 hypotrichosis 28.6 SNRPE LPAR6 LIPH KRT74 KRT25 DSG4
23 hypotrichosis 8 28.4 SNRPE LPAR6 LIPH KRT74 KRT25 DSG4
24 hypotrichosis-lymphedema-telangiectasia syndrome 11.7
25 hypotrichosis 5 11.6
26 schopf-schulz-passarge syndrome 11.5
27 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 11.5
28 hypotrichosis 14 11.5
29 hypotrichosis and recurrent skin vesicles 11.5
30 metaphyseal dysplasia without hypotrichosis 11.5
31 hypotrichosis 12 11.5
32 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 11.4
33 spondyloepimetaphyseal dysplasia with hypotrichosis 11.4
34 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 11.4
35 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 11.4
36 ichthyosis, congenital, autosomal recessive 11 11.4
37 marie unna congenital hypotrichosis 11.3
38 hypotrichosis 10 11.3
39 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 11.3
40 cartilage-hair hypoplasia 11.3
41 palmoplantar keratoderma and congenital alopecia 1 11.3
42 leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis 11.3
43 hypotrichosis 9 11.3
44 bazex syndrome 11.2
45 hypotrichosis-deafness syndrome 11.2
46 rombo syndrome 11.2
47 woolly hair, hypotrichosis, everted lower lip, and outstanding ears 11.2
48 brachymetapody-anodontia-hypotrichosis-albinoidism 11.1
49 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 11.1
50 hypotrichosis-intellectual disability, lopes type 11.1

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



Diseases related to Hypotrichosis 7

Symptoms & Phenotypes for Hypotrichosis 7

Human phenotypes related to Hypotrichosis 7:

30 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 woolly hair 30 Occasional (7.5%) HP:0002224
2 sparse scalp hair 30 Very rare (1%) HP:0002209
3 sparse body hair 30 Very rare (1%) HP:0002231
4 sparse eyebrow 30 Very rare (1%) HP:0045075
5 sparse eyelashes 30 Very rare (1%) HP:0000653
6 sparse axillary hair 30 Very rare (1%) HP:0002215
7 comedo 30 Very rare (1%) HP:0025249
8 brittle hair 30 HP:0002299

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
sparse eyelashes
sparse eyebrows

Skin Nails Hair Skin:
normal skin
normal sweating

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 Nails:
normal nails

Head And Neck Teeth:
normal teeth

Clinical features from OMIM®:

604379 (Updated 08-Dec-2022)

Drugs & Therapeutics for Hypotrichosis 7

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

(show all 31)
# 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-Bacterial Agents Phase 2
8 Anti-Infective Agents Phase 2
9 Gentamicins Phase 2
10
Glycerin Approved, Investigational 56-81-5 753
11
Zinc cation Approved, Experimental, Investigational 7440-66-6, 23713-49-7 32051
12
Dihydrotachysterol Approved 67-96-9 5311071
13
Capsaicin Approved 404-86-4 1548943
14
Tocopherol Approved, Investigational 1406-66-2
15
Saw palmetto Approved, Experimental, Investigational
16
Curcumin Approved, Investigational 458-37-7, 84765-67-3 969516
17
Ascorbic acid Approved, Nutraceutical 50-81-7 54676860 54670067 5785
18
Biotin Approved, Investigational, Nutraceutical 58-85-5 253 171548
19
DL-alpha-Tocopherol Approved, Experimental, Investigational, Nutraceutical, Vet_approved 59-02-9, 10191-41-0 2116 14985
20
Piperine Investigational 94-62-2 638024
21
Tocotrienol Investigational 6829-55-6 9929901
22 Hormones
23 Maca
24 Vitamin B7
25 Vitamins
26 Ashwagandha
27 Anti-Inflammatory Agents
28 Antioxidants
29 Tocotrienols
30 Tocopherols
31 Saw palmetto extract

Interventional clinical trials:

(show all 30)
# Name Status NCT ID Phase Drugs
1 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
2 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)
3 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
4 Latisse(Bimatoprost .03% Opthalmic Solution) for the Treatment of Hypotrichosis of the Eyebrows: Latisse Versus Placebo Completed NCT01387906 Phase 4 topical bimatoprost
5 Minoxidil 1% for Eyebrow Enhancement: A Randomized , Double-blind , Placebo-controlled , Split-face Comparative Study Completed NCT01924000 Phase 4 Minoxidil lotion 1%;Placebo
6 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
7 Safety and Efficacy of LATISSE® in the Augmentation of Eyelashes of Korean Subjects Completed NCT01229423 Phase 4 bimatoprost 0.03%
8 Study Assessing Patient Satisfaction With LATISSE® for Increasing Eyelash Prominence Completed NCT01448525 Phase 4 bimatoprost ophthalmic solution 0.03%;bimatoprost vehicle solution
9 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 %
10 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
11 Bimatoprost for the Treatment of Eyebrow Hypotrichosis Completed NCT01765764 Phase 3 bimatoprost solution;Vehicle to bimatoprost solution
12 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
13 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
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 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 Unknown status NCT04048031
19 Safety and Patient Satisfaction With GLASH VISTA™ (Bimatoprost 0.03%) in the Treatment of Eyelash Hypotrichosis in Japan Completed NCT02505776 Bimatoprost cutaneous solution 0.03%
20 An Observational Study of Patients Treated With Bimatoprost 0.03% (Latisse®) for Hypotrichosis of the Eyelashes Completed NCT01623479 bimatoprost 0.03%
21 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
22 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
23 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
24 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
25 Hair Regrowth Efficacy of Multi-Molecular Targeting Treatment (ALRV5XR), a Randomized Controlled Clinical Trial in Women With Androgenetic Alopecia, Telogen Effluvium or Self Reported Thinning Hair: THE HAIR REBOOT TRIAL - WOMEN Completed NCT04450602
26 Hair Regrowth Efficacy of Multi-Molecular Targeting Treatment (ALRV5XR), a Randomized Controlled Clinical Trial in Men With Androgenetic Alopecia, Telogen Effluvium or Self Reported Thinning Hair: THE HAIR REBOOT TRIAL - MEN Completed NCT04450589
27 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
28 A Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of a Nutraceutical Supplement With Standardized Botanicals in Males With Self-Perceived Thinning Hair Active, not recruiting NCT05339958
29 A Multi-center, Single-arm Prospective Study to Evaluate the Safety and Efficacy of a Nutraceutical Supplement With Vegan Botanicals in Females With Self-Perceived Thinning Hair Active, not recruiting NCT05332743
30 The Effect of an Oral Herbal Combination Formulation on Hair Growth in Women With Self-perceived Hair Loss Withdrawn NCT05019066

Search NIH Clinical Center for Hypotrichosis 7

Genetic Tests for Hypotrichosis 7

Genetic tests related to Hypotrichosis 7:

# Genetic test Affiliating Genes
1 Hypotrichosis 7 28 LIPH
2 Woolly Hair, Autosomal Recessive 2, with or Without Hypotrichosis 28

Anatomical Context for Hypotrichosis 7

Organs/tissues related to Hypotrichosis 7:

MalaCards : Skin, Bone, Bone Marrow, Liver, Eye, Pituitary, Thyroid

Publications for Hypotrichosis 7

Articles related to Hypotrichosis 7:

(show top 50) (show all 928)
# Title Authors PMID Year
1
Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan. 62 57 5
21426374 2011
2
Mutations in the LIPH gene in three Japanese families with autosomal recessive woolly hair/hypotrichosis. 62 57 5
19892526 2009
3
Mutations in the lipase H gene underlie autosomal recessive woolly hair/hypotrichosis. 62 57 5
18830268 2009
4
The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair/hypotrichosis. 62 57 5
19365138 2009
5
A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2). 62 57 5
18445047 2008
6
A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis. 62 57 5
17333281 2007
7
Human hair growth deficiency is linked to a genetic defect in the phospholipase gene LIPH. 57 5
17095700 2006
8
A homozygous mutation, c.736T>A (p.C246S), in LIPH gene in a patient manifesting woolly hair, hypotrichosis, hearing difficulty, cleft palate and amblyopia. 62 5
24722066 2014
9
Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1alpha in autosomal recessive hypotrichosis. 62 5
20213768 2010
10
Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14.11-q21.32. 62 57
17594396 2007
11
A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33-q27.3. 62 57
15520410 2004
12
Total hypotrichosis: genetic form of alopecia not linked to hairless gene. 62 57
10509509 1999
13
Two cases of autosomal recessive woolly hair with LIPH gene mutations. 5
23590372 2013
14
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome. 62
35986704 2022
15
Expanding the clinical spectrum of SOX18-related Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome. 62
36096470 2022
16
Loss-of-function mutations in CST6 cause dry skin, desquamation and abnormal keratosis without hypotrichosis. 62
36371786 2022
17
A Case with Hypotrichosis-Lymphedema-Telangiectasia Syndrome with Hair Shaft Fragility. 62
36407647 2022
18
Alopecia and hyperpigmentation in a neonatal patient with lanosterol synthase gene deficiency and Spectrin alpha, non-erythrocytic 1 mutation. 62
35830358 2022
19
Palmoplantar keratoderma: a new phenotype in patients with hypotrichosis resulted from lanosterol synthase gene mutations. 62
35689498 2022
20
Hypotrichosis simplex of the scalp and peeling skin disease, two sides of the same coin. 62
35633076 2022
21
Botanical extracts in combination improve autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations. 62
35238153 2022
22
Different degree of loss-of-function among four missense mutations in the EDAR gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia may be associated with the phenotypic severity. 62
36258277 2022
23
A large deletion encompassing exon 2 of the ectodysplasin A (EDA) gene in a British blue crossbred calf with hypohidrotic ectodermal dysplasia. 62
36068608 2022
24
Extended Overview of Ocular Phenotype with Recent Advances in Hypohidrotic Ectodermal Dysplasia. 62
36138666 2022
25
Uses of eye drops in dermatology, literature review. 62
35652324 2022
26
Cell-trafficking impairment in disease-associated LPA6 missense mutants and a potential pharmacoperone therapy for autosomal recessive woolly hair/hypotrichosis. 62
36173926 2022
27
Hallermann-Streiff syndrome diagnosed in the seventh decade of life. 62
35651595 2022
28
Hallermann Streiff syndrome: Cranio-facial manifestations systematic review and report of two cases. 62
34800747 2022
29
Retinal cadherins and the retinal cadherinopathies: Current concepts and future directions. 62
35066146 2022
30
Treatment of hereditary hypotrichosis simplex of the scalp with oral minoxidil and growth factors. 62
35761391 2022
31
Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis. 62
35964051 2022
32
A Novel Pathogenic CDH3 Variant underlying Heredity Hypotrichosis Simplex detected by Whole-Exome Sequencing (WES)-A Case Report. 62
35962736 2022
33
Pigmentary retinopathy with perivascular sparing in a SOFT syndrome patient with a novel homozygous splicing variant in POC1A gene. 62
35930384 2022
34
Radiological Findings of Woodhouse-Sakati Syndrome: Cases Reported From Saudi Arabia. 62
36185913 2022
35
The Fate of Epidermal Tight Junctions in the stratum corneum: Their Involvement in the Regulation of Desquamation and Phenotypic Expression of Certain Skin Conditions. 62
35806491 2022
36
Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy. 62
35853629 2022
37
Bmal1- and Per2-mediated regulation of the osteogenic differentiation and proliferation of mouse bone marrow mesenchymal stem cells by modulating the Wnt/β-catenin pathway. 62
35386071 2022
38
Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity. 62
35741818 2022
39
The first reported case of CDH3-related hypotrichosis with juvenile macular dystrophy from Jordan: a case report. 62
35038959 2022
40
The stem cell quiescence and niche signaling is disturbed in the hair follicle of the hairpoor mouse, an MUHH model mouse. 62
35619120 2022
41
Diffuse congenital hypotrichosis simplex with associated hair shaft fragility. 62
34657286 2022
42
Hypohidrotic ectodermal dysplasia: A case report with review and latest updates. 62
35450227 2022
43
Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance. 62
35923710 2022
44
Three Variants Affecting Exon 1 of Ectodysplasin A Cause X-Linked Hypohidrotic Ectodermal Dysplasia: Clinical and Molecular Characteristics. 62
35873474 2022
45
Update of recent findings in genetic hair disorders. 62
34676598 2022
46
Hypotrichosis with Juvenile Macular Dystrophy in a Patient with Cadherin 3 (CDH3) Mutation. 62
35996915 2022
47
Hair shaft miniaturization causes stem cell depletion through mechanosensory signals mediated by a Piezo1-calcium-TNF-α axis. 62
34624205 2022
48
Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles. 62
36061207 2022
49
Effectiveness of a fluralaner spot-on formulation in a case of feline demodicosis due to Demodex cati. 62
35111330 2022
50
Case Report: Hereditary Fibrosing Poikiloderma With Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP) Presenting With Liver Cirrhosis and Steroid-Responsive Interstitial Pneumonia. 62
35601499 2022

Variations for Hypotrichosis 7

ClinVar genetic disease variations for Hypotrichosis 7:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LIPH NM_139248.3(LIPH):c.659_660del (p.Ile220fs) DEL Pathogenic
Pathogenic
3303 rs559648418 GRCh37: 3:185241917-185241918
GRCh38: 3:185524129-185524130
2 LIPH NM_139248.3(LIPH):c.322T>C (p.Trp108Arg) SNV Pathogenic
3305 rs267607219 GRCh37: 3:185252648-185252648
GRCh38: 3:185534860-185534860
3 LIPH NM_139248.3(LIPH):c.742C>A (p.His248Asn) SNV Pathogenic
30669 rs201868115 GRCh37: 3:185237074-185237074
GRCh38: 3:185519286-185519286
4 LIPH NM_139248.3(LIPH):c.736T>A (p.Cys246Ser) SNV Pathogenic
Pathogenic/Likely Pathogenic
225403 rs201249971 GRCh37: 3:185237080-185237080
GRCh38: 3:185519292-185519292
5 LIPH NG_012183.1:g.(2711_2742)_(3942_3973)del DEL Pathogenic
3301 GRCh37:
GRCh38:
6 LIPH NM_139248.3(LIPH):c.346_350del (p.Ile116fs) DEL Pathogenic
3302 GRCh37: 3:185252620-185252624
GRCh38: 3:185534832-185534836
7 LIPH NM_139248.3(LIPH):c.886+405_1094+962del DEL Pathogenic
Pathogenic
3304 GRCh37: 3:185231236-185236525
GRCh38: 3:185513448-185518737
8 LIPH NM_139248.3(LIPH):c.280_369dup (p.Lys123_Thr124insGlyLeuLeuSerValGluAspMetAsnValValValValAspTrpAsnArgGlyAlaThrThrLeuIleTyrThrHisAlaSerSerLys) DUP Pathogenic
3306 GRCh37: 3:185252600-185252601
GRCh38: 3:185534812-185534813

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

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

Expression for Hypotrichosis 7

Search GEO for disease gene expression data for Hypotrichosis 7.

Pathways for Hypotrichosis 7

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.46 KRT74 KRT25 DSG4 CDSN

GO Terms for Hypotrichosis 7

Cellular components related to Hypotrichosis 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cornified envelope GO:0001533 9.13 DSG4 CDSN
2 desmosome GO:0030057 8.8 DSG4 CDSN

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

# Name GO ID Score Top Affiliating Genes
1 intermediate filament organization GO:0045109 9.26 KRT74 KRT25
2 keratinocyte differentiation GO:0030216 8.8 DSG4 CDSN

Sources for Hypotrichosis 7

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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