Hypotrichosis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Hypotrichosis

MalaCards integrated aliases for Hypotrichosis:

Name: Hypotrichosis ¹¹ ⁷⁵ ²⁸ ⁴³ ¹⁴ ³⁸ ⁷⁵

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Oral diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:4535

MeSH ⁴³ D007039

SNOMED-CT ⁶⁸ 53602002

UMLS ⁷¹ C0020678

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Summaries for Hypotrichosis

Disease Ontology: ¹¹ A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has material basis in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles.

MalaCards based summary: Hypotrichosis is related to hypotrichosis 7 and hypotrichosis, congenital, with juvenile macular dystrophy. An important gene associated with Hypotrichosis is HYPT9 (Hypotrichosis 9), 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 endocrine/exocrine gland and integument

Wikipedia: ⁷⁵ Hair loss, also known as alopecia or baldness, refers to a loss of hair from part of the head or body.... more...

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Related Diseases for Hypotrichosis

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 293)

#	Related Disease	Score	Top Affiliating Genes
1	hypotrichosis 7	33.1	SNRPE LPAR6 LIPH KRT74 KRT25 DSG4
2	hypotrichosis, congenital, with juvenile macular dystrophy	33.0	LPAR6 LIPH DSG4 CDSN CDH3
3	hypotrichosis 1	33.0	LIPH KRT74 APCDD1
4	hypotrichosis 3	32.9	LPAR6 LIPH KRT74 KRT71
5	hypotrichosis 6	32.9	SNRPE LPAR6 LIPH KRT74 KRT71 DSG4
6	hypotrichosis 2	32.8	LSS LPAR6 LIPH KRT74 DSG4 CDSN
7	hypotrichosis 4	32.8	SNRPE LPAR6 LIPH KRT74 KRT71 HRURF
8	hypotrichosis 8	32.7	SNRPE LPAR6 LIPH KRT74 KRT71 KRT25
9	hypotrichosis simplex	32.6	SNRPE RPL21 LSS LPAR6 LIPH DSG4
10	hypotrichosis 11	32.6	SNRPE LPAR6 LIPH KRT74 DSG4 CDSN
11	marie unna congenital hypotrichosis	32.6	HR EPS8L3
12	hypotrichosis 13	32.5	SNRPE LPAR6 LIPH KRT74 KRT71 KRT25
13	hypotrichosis simplex of the scalp	32.5	KRT74 CDSN
14	woolly hair, autosomal recessive 3	32.4	LPAR6 LIPH KRT25
15	ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome	32.2	DSG4 CDSN CDH3
16	ectodermal dysplasia 4, hair/nail type	32.0	LPAR6 LIPH KRT74 KRT71 DSG4
17	monilethrix	31.9	LPAR6 LIPH KRT74 KRT71 KRT25 DSG4
18	ectodermal dysplasia 7, hair/nail type	31.9	KRT74 DSG4
19	ectodermal dysplasia 6, hair/nail type	31.7	KRT74 DSG4
20	ectodermal dysplasia 5, hair/nail type	31.7	KRT74 DSG4
21	familial woolly hair syndrome	31.1	LPAR6 LIPH KRT74 KRT71 KRT25 GJA1
22	skin disease	30.7	GJA1 DSG4 DSC3 CDSN CDH3
23	hair disease	30.6	SOX18 LPAR6 LIPH KRT74 KRT71 DSG4
24	woolly hair, autosomal dominant	30.5	LPAR6 LIPH KRT74 KRT71 KRT25
25	atrichia with papular lesions	30.5	LPAR6 LIPH KRT74 HR DSG4 CDSN
26	darier-white disease	30.4	DSG4 DSC3 CDH3
27	pemphigus	30.1	DSG4 DSC3 CDH3
28	pemphigus vulgaris, familial	30.1	DSG4 DSC3 CDH3
29	hypotrichosis-lymphedema-telangiectasia syndrome	11.7
30	ichthyosis, congenital, autosomal recessive 11	11.6
31	hypotrichosis 5	11.6
32	schopf-schulz-passarge syndrome	11.5
33	hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	11.5
34	hypotrichosis 14	11.5
35	hypotrichosis and recurrent skin vesicles	11.5
36	metaphyseal dysplasia without hypotrichosis	11.5
37	hypotrichosis 12	11.5
38	short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	11.4
39	spondyloepimetaphyseal dysplasia with hypotrichosis	11.4
40	hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome	11.4
41	erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	11.4
42	hypotrichosis 10	11.3
43	ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	11.3
44	cartilage-hair hypoplasia	11.3
45	palmoplantar keratoderma and congenital alopecia 1	11.3
46	leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis	11.3
47	hypotrichosis 9	11.3
48	bazex syndrome	11.2
49	hypotrichosis-deafness syndrome	11.2
50	rombo syndrome	11.2

Graphical network of the top 20 diseases related to Hypotrichosis:

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Symptoms & Phenotypes for Hypotrichosis

MGI Mouse Phenotypes related to Hypotrichosis:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland	MP:0005379	9.61	CDH3 CDSN DSG4 GJA1 HR KRT25
2	integument	MP:0010771	9.32	CDH3 CDSN DSC3 DSG4 GJA1 HR

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Drugs & Therapeutics for Hypotrichosis

Drugs for Hypotrichosis (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

Cochrane evidence based reviews: hypotrichosis

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Genetic Tests for Hypotrichosis

Genetic tests related to Hypotrichosis:

#	Genetic test	Affiliating Genes
1	Hypotrichosis ²⁸

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Anatomical Context for Hypotrichosis

Organs/tissues related to Hypotrichosis:

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

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Publications for Hypotrichosis

Articles related to Hypotrichosis:

(show top 50) (show all 918)

#	Title	Authors	PMID	Year
1	Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome. ⁶²	Liu Y...Zhang X	35986704	2022
2	Expanding the clinical spectrum of SOX18-related Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome. ⁶²	Dailey C...Aggarwal A	36096470	2022
3	Loss-of-function mutations in CST6 cause dry skin, desquamation and abnormal keratosis without hypotrichosis. ⁶²	Wang X...Yang C	36371786	2022
4	A Case with Hypotrichosis-Lymphedema-Telangiectasia Syndrome with Hair Shaft Fragility. ⁶²	Atis G...Akgun Dogan O	36407647	2022
5	Alopecia and hyperpigmentation in a neonatal patient with lanosterol synthase gene deficiency and Spectrin alpha, non-erythrocytic 1 mutation. ⁶²	Xiao TL...Rosenblatt AE	35830358	2022
6	Palmoplantar keratoderma: a new phenotype in patients with hypotrichosis resulted from lanosterol synthase gene mutations. ⁶²	Wang YM...Li M	35689498	2022
7	Hypotrichosis simplex of the scalp and peeling skin disease, two sides of the same coin. ⁶²	Lopez-Balboa P...Hernandez-Martin A	35633076	2022
8	Botanical extracts in combination improve autosomal recessive woolly hair/hypotrichosis caused by LIPH mutations. ⁶²	Qu B...Yang D	35238153	2022
9	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	Yagi S...Shimomura Y	36258277	2022
10	A large deletion encompassing exon 2 of the ectodysplasin A (EDA) gene in a British blue crossbred calf with hypohidrotic ectodermal dysplasia. ⁶²	Capuzzello G...Drogemuller C	36068608	2022
11	Extended Overview of Ocular Phenotype with Recent Advances in Hypohidrotic Ectodermal Dysplasia. ⁶²	Callea M...Willoughby CE	36138666	2022
12	Cell-trafficking impairment in disease-associated LPA6 missense mutants and a potential pharmacoperone therapy for autosomal recessive woolly hair/hypotrichosis. ⁶²	Yanagida K...Ishii S	36173926	2022
13	Hallermann-Streiff syndrome diagnosed in the seventh decade of life. ⁶²	Shimada A...Tanito M	35651595	2022
14	Hallermann Streiff syndrome: Cranio-facial manifestations systematic review and report of two cases. ⁶²	Preudhomme R...Benateau H	34800747	2022
15	Retinal cadherins and the retinal cadherinopathies: Current concepts and future directions. ⁶²	Yusuf IH...Charbel Issa P	35066146	2022
16	Uses of eye drops in dermatology, literature review. ⁶²	Sarsik SM...El-Amawy HS	35652324	2022
17	Treatment of hereditary hypotrichosis simplex of the scalp with oral minoxidil and growth factors. ⁶²	Vastarella M...Cantelli M	35761391	2022
18	A Novel Pathogenic CDH3 Variant underlying Heredity Hypotrichosis Simplex detected by Whole-Exome Sequencing (WES)-A Case Report. ⁶²	Kadhi A...Kurban M	35962736	2022
19	Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis. ⁶²	Serra G...Corsello G	35964051	2022
20	Pigmentary retinopathy with perivascular sparing in a SOFT syndrome patient with a novel homozygous splicing variant in POC1A gene. ⁶²	Batu Oto B...Yetik H	35930384	2022
21	Radiological Findings of Woodhouse-Sakati Syndrome: Cases Reported From Saudi Arabia. ⁶²	Alzahrani AM...Alaseri YM	36185913	2022
22	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	Haftek M...Abdayem R	35806491	2022
23	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	Zheng J...Li R	35386071	2022
24	Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy. ⁶²	Ren Y...Yu D	35853629	2022
25	The first reported case of CDH3-related hypotrichosis with juvenile macular dystrophy from Jordan: a case report. ⁶²	Al Zubi K...Abdulmannan DM	35038959	2022
26	Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity. ⁶²	Rabie EA...El-Kamah G	35741818	2022
27	The stem cell quiescence and niche signaling is disturbed in the hair follicle of the hairpoor mouse, an MUHH model mouse. ⁶²	Choi K...Yoon SK	35619120	2022
28	Diffuse congenital hypotrichosis simplex with associated hair shaft fragility. ⁶²	Willems A...Sinclair R	34657286	2022
29	Hypohidrotic ectodermal dysplasia: A case report with review and latest updates. ⁶²	Bagdey SP...Bodhade A	35450227	2022
30	Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance. ⁶²	Gokdere S...Maier-Wohlfart S	35923710	2022
31	Three Variants Affecting Exon 1 of Ectodysplasin A Cause X-Linked Hypohidrotic Ectodermal Dysplasia: Clinical and Molecular Characteristics. ⁶²	Wang Y...Zhang Q	35873474	2022
32	Hypotrichosis with Juvenile Macular Dystrophy in a Patient with Cadherin 3 (CDH3) Mutation. ⁶²	Rishi E...Rishi P	35996915	2022
33	Update of recent findings in genetic hair disorders. ⁶²	Hayashi R...Shimomura Y	34676598	2022
34	Hair shaft miniaturization causes stem cell depletion through mechanosensory signals mediated by a Piezo1-calcium-TNF-α axis. ⁶²	Xie Y...Chen T	34624205	2022
35	Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles. ⁶²	Al Hawsawi K...Al-Khenaizan S	36061207	2022
36	Effectiveness of a fluralaner spot-on formulation in a case of feline demodicosis due to Demodex cati. ⁶²	Bouza-Rapti P...Farmaki R	35111330	2022
37	Case Report: Hereditary Fibrosing Poikiloderma With Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP) Presenting With Liver Cirrhosis and Steroid-Responsive Interstitial Pneumonia. ⁶²	Takimoto-Sato M...Konno S	35601499	2022
38	Localized alopecia and suppression of hypothalamic-pituitary-adrenal (HPA) axis in dogs following treatment with difluprednate 0.05% ophthalmic emulsion (Durezol®). ⁶²	Quantz K...Komaromy AM	34847929	2021
39	Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes. ⁶²	Cesarato N...Betz RC	34318586	2021
40	Application of topical gentamicin-a new era in the treatment of genodermatosis. ⁶²	Wang S...Yang YH	34787828	2021
41	Rehabilitation of ectodermal dysplasia patient with a telescopic denture in the maxilla and mandibular implant assisted overdenture: A case report. ⁶²	Alajami H...Saker J	34938562	2021
42	A dominant-negative SOX18 mutant disrupts multiple regulatory layers essential to transcription factor activity. ⁶²	McCann AJ...Francois M	34570228	2021
43	Characterization of EDARADD gene mutations responsible for hypohidrotic ectodermal dysplasia. ⁶²	Asano N...Shimomura Y	34219261	2021
44	Recurrent c.459 C>A mutation of the PERP gene results in severe Olmsted syndrome with congenital hypotrichosis, atopic dermatitis, and growth retardation. ⁶²	Song D...Wang S	34265120	2021
45	Moniletrix of the scalp from almost normal aspect to total alopecia: variable intrafamilial expressiveness. ⁶²	Antoniali D...Simao JCL	34272078	2021
46	Isolated autosomal recessive woolly hair/hypotrichosis: genetics, pathogenesis and therapies. ⁶²	Akiyama M	33988877	2021
47	Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations. ⁶²	Ahmed HA...Sayed ISM	34573371	2021
48	Additional causal SNRPE mutations in hereditary hypotrichosis simplex. ⁶²	Pan C...Betz RC	33792916	2021
49	Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum. ⁶²	Coulie R...Vikkula M	33851505	2021
50	A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle. ⁶²	Jacinto JGP...Drogemuller C	34356054	2021

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Genes for Hypotrichosis

Genes related to Hypotrichosis (1 elite genes):

(show top 50) (show all 52)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	HYPT9	Hypotrichosis 9	Genetic Locus	57.69	MalaCards inferred ³⁹ GeneCards inferred via : Gene name (show sections)
2	DSG4	Desmoglein 4	Protein Coding	34.34	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
3	CDH3	Cadherin 3	Protein Coding	33.99	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
4	SOX18	SRY-Box Transcription Factor 18	Protein Coding	32.99	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
5	CDSN	Corneodesmosin	Protein Coding	32.95	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
6	HR	HR Lysine Demethylase And Nuclear Receptor Corepressor	Protein Coding	32.23	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
7	POC1A	POC1 Centriolar Protein A	Protein Coding	31.31	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
8	DSC3	Desmocollin 3	Protein Coding	31.18	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
9	SNRPE	Small Nuclear Ribonucleoprotein Polypeptide E	Protein Coding	30.26	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
10	LIPH	Lipase H	Protein Coding	26.02	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
11	HRURF	HR Upstream Open Reading Frame	Protein Coding	25.97	GeneCards inferred via : Disorders Publications Summaries (show sections)
12	APCDD1	APC Down-Regulated 1	Protein Coding	25.86	GeneCards inferred via : Disorders Publications Summaries (show sections)
13	LPAR6	Lysophosphatidic Acid Receptor 6	Protein Coding	24.91	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
14	KRT74	Keratin 74	Protein Coding	23.17	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
15	KRT71	Keratin 71	Protein Coding	22.63	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
16	LSS	Lanosterol Synthase	Protein Coding	21.98	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
17	KRT25	Keratin 25	Protein Coding	21.81	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
18	EPS8L3	EPS8 Like 3	Protein Coding	21.4	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
19	GJA1	Gap Junction Protein Alpha 1	Protein Coding	21.25	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
20	RPL21	Ribosomal Protein L21	Protein Coding	21.2	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
21	CST6	Cystatin E/M	Protein Coding	19.6	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
22	DMTN	Dematin Actin Binding Protein	Protein Coding	19.14	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
23	HMU	Hypotrichosis, Marie Unna Type	Genetic Locus	16.62	GeneCards inferred via : Publications Gene name (show sections)
24	EDA	Ectodysplasin A	Protein Coding	14.4	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
25	HOXC13	Homeobox C13	Protein Coding	14.17	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
26	KRT86	Keratin 86	Protein Coding	14.14	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
27	KRT83	Keratin 83	Protein Coding	14.01	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
28	ST14	ST14 Transmembrane Serine Protease Matriptase	Protein Coding	13.96	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
29	EDAR	Ectodysplasin A Receptor	Protein Coding	13.89	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
30	DCAF17	DDB1 And CUL4 Associated Factor 17	Protein Coding	13.8	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
31	EDARADD	EDAR Associated Death Domain	Protein Coding	13.8	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
32	FLG	Filaggrin	Protein Coding	13.68	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
33	WNT10A	Wnt Family Member 10A	Protein Coding	13.61	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
34	DSG1	Desmoglein 1	Protein Coding	13.5	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
35	LIPC	Lipase C, Hepatic Type	Protein Coding	13.29	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
36	WNT3A	Wnt Family Member 3A	Protein Coding	12.98	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
37	KRT5	Keratin 5	Protein Coding	12.68	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
38	PRSS8	Serine Protease 8	Protein Coding	12.68	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
39	RMRP	RNA Component Of Mitochondrial RNA Processing Endoribonuclease	RNA Gene	12.61	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
40	C3orf52	Chromosome 3 Open Reading Frame 52	Protein Coding	12.59	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
41	FLT4	Fms Related Receptor Tyrosine Kinase 4	Protein Coding	12.58	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
42	CLDN1	Claudin 1	Protein Coding	12.33	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
43	LRP5	LDL Receptor Related Protein 5	Protein Coding	12.16	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
44	FOXC2	Forkhead Box C2	Protein Coding	11.75	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
45	TSPEAR	Thrombospondin Type Laminin G Domain And EAR Repeats	Protein Coding	11.72	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
46	BCS1L	BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone	Protein Coding	11.44	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
47	FGF17	Fibroblast Growth Factor 17	Protein Coding	10.58	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
48	CTSC	Cathepsin C	Protein Coding	10.36	DISEASES inferred ¹⁴ GeneCards inferred via : Publications (show sections)
49	KDF1	Keratinocyte Differentiation Factor 1	Protein Coding	10.2	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
50	CCR6	C-C Motif Chemokine Receptor 6	Protein Coding	8.39	DISEASES inferred ¹⁴ ¹⁴

Sources

Variations for Hypotrichosis

Sources

Expression for Hypotrichosis

Search GEO for disease gene expression data for Hypotrichosis.

Sources

Pathways for Hypotrichosis

Pathways related to Hypotrichosis according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Keratinization ⁶⁶ Show member pathways Formation of the cornified envelope ⁶⁶	11.64	KRT74 KRT71 KRT25 DSG4 DSC3 CDSN

Sources

GO Terms for Hypotrichosis

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

#	Name	GO ID	Score	Top Affiliating Genes
1	cornified envelope	GO:0001533	9.35	DSG4 DSC3 CDSN
2	desmosome	GO:0030057	9.02	DSG4 DSC3 CDSN

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

#	Name	GO ID	Score	Top Affiliating Genes
1	keratinization	GO:0031424	9.8	KRT74 KRT71 CDH3
2	cell-cell adhesion	GO:0098609	9.73	DSG4 DSC3 CDSN CDH3
3	intermediate filament organization	GO:0045109	9.63	KRT74 KRT71 KRT25
4	hair cycle process	GO:0022405	9.26	SOX18 CDH3
5	hair follicle development	GO:0001942	9.1	SOX18 DSG4 APCDD1

Sources

Sources for Hypotrichosis

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: HYP087 MIFTS: 40	Hypotrichosis Categories: Eye diseases, Genetic diseases, Oral diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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