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MCID: HYP087
MIFTS: 46

Hypotrichosis

Categories: Eye diseases, Genetic diseases, Oral diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Hypotrichosis

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MalaCards integrated aliases for Hypotrichosis:

Name: Hypotrichosis 12 76 29 44 15

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:4535
MeSH 44 D007039
NCIt 50 C34720
SNOMED-CT 68 53602002 56558005
UMLS 73 C0020678
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Summaries for Hypotrichosis

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Disease Ontology : 12 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 6 and hypotrichosis 7. An important gene associated with Hypotrichosis is HYPT9 (Hypotrichosis 9), and among its related pathways/superpathways are Developmental Biology and Keratinization. The drugs Clobetasol and Minoxidil have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and liver, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 76 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

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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

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

(show top 50) (show all 142)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 6 34.1 DSG4 KRT74 LIPH LPAR6
2 hypotrichosis 7 34.1 DSG4 KRT25 KRT74 LIPH LPAR6
3 hypotrichosis 13 33.9 KRT25 KRT71 KRT74 LIPH
4 hypotrichosis 8 33.8 DSG4 KRT25 KRT74 LIPH LPAR6
5 hypotrichosis simplex 33.7 APCDD1 CDSN DSG4 LIPH LPAR6 RPL21
6 hypotrichosis simplex of the scalp 33.5 CDSN KRT74
7 monilethrix 32.3 DSG4 KRT74 LPAR6
8 woolly hair syndrome 32.2 KRT25 KRT71 KRT74 LIPH LPAR6
9 ectodermal dysplasia 4, hair/nail type 31.5 HOXC13 KRT74
10 ectodermal dysplasia 30.5 CDH3 HOXC13 KRT74
11 pemphigus 30.0 DSC3 DSG1 DSG4
12 pemphigus vulgaris 30.0 DSC3 DSG1 DSG4
13 hypotrichosis 2 12.5
14 hypotrichosis, congenital, with juvenile macular dystrophy 12.5
15 hypotrichosis-lymphedema-telangiectasia syndrome 12.5
16 hypotrichosis 1 12.5
17 hypotrichosis 4 12.5
18 hypotrichosis 3 12.4
19 hypotrichosis and recurrent skin vesicles 12.4
20 marie unna congenital hypotrichosis 12.4
21 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 12.4
22 hypotrichosis 11 12.3
23 hypotrichosis 12 12.3
24 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 12.3
25 hypotrichosis 5 12.3
26 spondyloepimetaphyseal dysplasia with hypotrichosis 12.2
27 metaphyseal dysplasia without hypotrichosis 12.2
28 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 12.2
29 hypotrichosis 9 12.2
30 hypotrichosis 10 12.2
31 ichthyosis, congenital, autosomal recessive 11 12.1
32 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 12.0
33 juvenile macular degeneration and hypotrichosis 12.0
34 woolly hair, hypotrichosis, everted lower lip, and outstanding ears 12.0
35 hypotrichosis-deafness syndrome 12.0
36 brachymetapody-anodontia-hypotrichosis-albinoidism 12.0
37 leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis 11.9
38 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate 11.9
39 hypotrichosis of eyelid 11.9
40 congenital hypotrichosis milia 11.9
41 leukomelanoderma mental redardation hypotrichosis 11.9
42 hypotrichosis-intellectual disability, lopes type 11.9
43 bazex syndrome 11.9
44 palmoplantar keratoderma and congenital alopecia 1 11.8
45 schopf-schulz-passarge syndrome 11.7
46 rombo syndrome 11.7
47 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 11.6
48 woolly hair, autosomal recessive 3 11.6
49 hallermann-streiff syndrome 11.4
50 cartilage-hair hypoplasia 11.4

Graphical network of the top 20 diseases related to Hypotrichosis:



Diseases related to Hypotrichosis
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Symptoms & Phenotypes for Hypotrichosis

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GenomeRNAi Phenotypes related to Hypotrichosis according to GeneCards Suite gene sharing:

26 (show all 16)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 9.6 LIPH
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.6 HOXC13
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 9.6 LIPH
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.6 SNRPE
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-154 9.6 POC1A
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-155 9.6 POC1A
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 9.6 HOXC13
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.6 POC1A
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.6 LIPH
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.6 POC1A
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.6 HOXC13 LIPH POC1A SNRPE
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.6 HOXC13
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.6 SNRPE
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 9.6 LIPH
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.6 POC1A
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 9.6 POC1A

MGI Mouse Phenotypes related to Hypotrichosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.36 CDH3 DSC3 DSG1 DSG4 GJA1 HOXC13
Sources

Drugs & Therapeutics for Hypotrichosis

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

(show top 50) (show all 241)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clobetasol Approved, Experimental, Investigational Phase 4,Phase 3 25122-46-7, 25122-41-2 5311051 32798
2
Minoxidil Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 38304-91-5 4201
3
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Not Applicable 124-94-7 31307
4
Methylprednisolone Approved, Vet_approved Phase 4,Not Applicable 83-43-2 6741
5
Prednisolone Approved, Vet_approved Phase 4,Not Applicable 50-24-8 5755
6
Prednisolone phosphate Approved, Vet_approved Phase 4,Not Applicable 302-25-0
7
Methylprednisolone hemisuccinate Approved Phase 4,Not Applicable 2921-57-5
8
Finasteride Approved Phase 4,Phase 3,Phase 1,Phase 2 98319-26-7 57363
9
Bimatoprost Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 155206-00-1 5311027
10
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
11
Latanoprost Approved, Investigational Phase 4,Not Applicable 130209-82-4 5311221 5282380
12 Orange Approved Phase 4,Not Applicable
13
Imiquimod Approved, Investigational Phase 4 99011-02-6 57469
14
Hydroxychloroquine Approved Phase 4 118-42-3 3652
15
Capsaicin Approved Phase 4,Not Applicable 404-86-4 1548943
16
Spironolactone Approved Phase 4,Phase 2 52-01-7, 1952-01-7 5833
17
Apremilast Approved, Investigational Phase 4,Not Applicable 608141-41-9 11561674
18
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
19
Prednisolone hemisuccinate Experimental Phase 4,Not Applicable 2920-86-7
20 Anti-Anxiety Agents Phase 4,Early Phase 1
21 Hypnotics and Sedatives Phase 4
22 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Not Applicable
23 Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
24 Hormones Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
25 Emollients Phase 4
26 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
27 Dermatologic Agents Phase 4,Phase 3,Not Applicable,Early Phase 1
28 glucocorticoids Phase 4,Phase 3,Phase 2,Not Applicable
29 Antihypertensive Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
30 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
31 Vasodilator Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
32 Immunologic Factors Phase 4,Phase 3,Phase 2,Not Applicable
33 triamcinolone acetonide Phase 4,Phase 2,Not Applicable
34 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Not Applicable
35 Triamcinolone hexacetonide Phase 4,Phase 2,Not Applicable
36 Triamcinolone diacetate Phase 4,Phase 2,Not Applicable
37 Anti-Asthmatic Agents Phase 4,Phase 1,Phase 2
38 Respiratory System Agents Phase 4,Phase 1,Phase 2
39 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Not Applicable
40 Antiemetics Phase 4,Not Applicable
41 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
42 Prednisolone acetate Phase 4,Not Applicable
43 Gastrointestinal Agents Phase 4,Not Applicable
44 Methylprednisolone acetate Phase 4,Not Applicable
45 Neuroprotective Agents Phase 4,Phase 2,Not Applicable
46 Autonomic Agents Phase 4,Phase 1,Phase 2,Not Applicable
47 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
48 Adjuvants, Immunologic Phase 4,Phase 2,Not Applicable
49 Anti-Infective Agents Phase 4,Phase 2,Not Applicable
50 Antirheumatic Agents Phase 4,Phase 3,Phase 2,Not Applicable

Interventional clinical trials:

(show top 50) (show all 259)
# Name Status NCT ID Phase Drugs
1 Acupuncture for Sedation in the Intensive Care Unit (ICU) Unknown status NCT01362270 Phase 4
2 Comparing Different Platelet Rich Plasma (PRP) Treatment Regimens for Management of Androgenic Alopecia Unknown status NCT02999737 Phase 4
3 Safety and Efficacy of Clobetasol Propionate 0.05% E Foam in Alopecia Unknown status NCT01111981 Phase 4 Clobetasol Propionate 0.05% Emollient Foam
4 Latisse (Bimatoprost .03% Opthalmic Solution) for the Treatment of Hypotrichosis of the Eyebrows: Latisse Versus Placebo Completed NCT01387906 Phase 4 topical bimatoprost
5 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)
6 Safety and Efficacy of Bimatoprost 0.03% Solution for the Treatment of Thinning Eyebrows Completed NCT01891487 Phase 4 Track A;Track B
7 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
8 Study Assessing Patient Satisfaction With LATISSE® for Increasing Eyelash Prominence Completed NCT01448525 Phase 4 bimatoprost ophthalmic solution 0.03%;bimatoprost vehicle solution
9 Safety and Efficacy of LATISSE® in the Augmentation of Eyelashes of Korean Subjects Completed NCT01229423 Phase 4 bimatoprost 0.03%
10 Minoxidil 2% for Eyebrow Enhancement Completed NCT01672307 Phase 4 Minoxidil lotion 2%;Placebo
11 Minoxidil 1% for Eyebrow Enhancement Completed NCT01924000 Phase 4 Minoxidil lotion 1%;Placebo
12 Topical 5% Minoxidil and Potent Topical Corticosteroid Versus Intralesional Corticosteroid in the Treatment of Alopecia Areata Completed NCT03535233 Phase 4 Triamcinolone Acetonide;Minoxidil 5 % Topical Spray;clobetasol propionate
13 Comparison of Topical Latanoprost vs Topical Corticosteroid in Treatment of Localized Alopecia Areata Completed NCT02350023 Phase 4 Topical latanoprost 0.005%;Topical betamethasone 0.05%
14 Safety and Efficacy of Oral Mega Pulse Methylprednisolone in Severe Therapy Resistant Alopecia Areata Completed NCT01167946 Phase 4 methylprednisolone sodium succinate;methylprednisolone sodium succinate;methylprednisolone sodium succinate
15 Aldara for the Treatment of Extensive Alopecia Areata Completed NCT00177021 Phase 4 Aldara Cream 5%
16 Plaquenil for Alopecia Areata, Alopecia Totalis Completed NCT00176982 Phase 4 Hydroxychloroquine
17 Response of Topical Capsaicin in Alopecia Areata Completed NCT00176969 Phase 4 Capsaicin
18 Characteristics of T Cells From Alopecia Areata Scalp Skin Before and After Treatment With Aldara 5% Completed NCT00176943 Phase 4 Aldara Cream 5%
19 Apremilast in the Treatment of Central Centrifugal Cicatricial Alopecia (CCCA) Recruiting NCT03521687 Phase 4 Apremilast
20 Trial Evaluating the Efficacy of Apremilast for the Treatment of Frontal Fibrosing Alopecia Recruiting NCT03422640 Phase 4 Apremilast
21 Adipose Derived Stem Cells Versus Platelet Rich Plasma on Follicular Unit Extraction Recruiting NCT03388840 Phase 4
22 Intralesional Steroids in the Treatment of Alopecia Areata Recruiting NCT01898806 Phase 4 Intralesional Triamcinolone 2.5 mg/ml;Intralesional Triamcinolone 5 mg/ml;Intralesional Triamcinolone 10 mg/ml;Intralesional Saline
23 Effectiveness and Safety of Tofacitinib in Patients With Extensive and Recalcitrant Alopecia Areata Not yet recruiting NCT03800979 Phase 4 Tofacitinib
24 Cryotherapy Versus Steroids In Alopecia Areata:Trichoscopic Evaluation Not yet recruiting NCT03473600 Phase 4 Triamcinolone acetonide injection
25 Pain Outcomes Following Intralesional Corticosteroid Injections Not yet recruiting NCT03630198 Phase 4 Corticosteroid with lidocaine;Corticosteroid with normal saline
26 The Use of 5mg Finasteride Versus 200mg Spironolactone and Topical 5% Minoxidil in Treating Postmenopausal Female Androgenetic Alopecia Withdrawn NCT02483195 Phase 4 5% Minoxidil;200mg Spironolactone;5mg Finasteride
27 Efficacy and Safety of Mesotherapy With Minoxidil 0.5%/2ml for Androgenetic Alopecia in Female Patients Unknown status NCT01655108 Phase 3 Minoxidil;Saline
28 Safety and Efficacy Study of Bimatoprost in Japanese Patients With Eyelash Hypotrichosis Completed NCT01391273 Phase 3 bimatoprost solution 0.03%;bimatoprost vehicle solution
29 Safety and Efficacy Study of Bimatoprost in Japanese Patients With Chemotherapy-Induced Eyelash Hypotrichosis Completed NCT01391286 Phase 3 bimatoprost solution 0.03%;bimatoprost vehicle solution
30 Bimatoprost for the Treatment of Eyebrow Hypotrichosis Completed NCT01765764 Phase 3 bimatoprost solution;Vehicle to bimatoprost solution
31 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 %
32 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
33 Study of Bimatoprost Gel on Eyelash Growth Completed NCT01200251 Phase 3 Bimatoprost eyelash gel
34 Study to Evaluate the Efficacy and Safety of P-3074 Topical Solution in the Treatment of Androgenetic Alopecia Completed NCT03004469 Phase 3 P-3074;Finasteride;Vehicle
35 The Efficiency Of The Methotrexate At Patients Affected By Grave Pelade Completed NCT02037191 Phase 3 Methotrexate;Placebo
36 Sexual Function in Men Receiving Dutasteride for Androgenetic Alopecia Completed NCT02014584 Phase 3 Dutasteride;Placebo
37 A Long-term Study to Determine Safety and Efficacy of Dutasteride in Male Subjects With Androgenetic Alopecia Completed NCT01831791 Phase 3 Dutasteride 0.5 mg
38 Enhancing Hair Density With Platelet Rich Fibrin Matrix (PRFM) Completed NCT01590238 Phase 3
39 A Trial of Clobetasol Propionate Versus Hydrocortisone in Children With Alopecia Areata Completed NCT01453686 Phase 3 Hydrocortisone 1%;Clobetasol Propionate 0.05%
40 Efficacy Study of Minoxidil Lotion Versus Combined Minoxidil and Finasteride Lotion to Treat Male Pattern Hair Loss Completed NCT01391156 Phase 3 3%Minoxidil lotion;3% Minoxidil with 0.1% Finasteride lotion
41 Dutasteride Versus Placebo and Finasteride in Men With Androgenetic Alopecia Completed NCT01231607 Phase 3 1mg Finasteride active;0.02mg dutasteride;0.1mg dutasteride;0.5mg dutasteride;Finasteride placebo;Dutasteride placebo
42 Clinical Trial in Females for Female Pattern Hair Loss Completed NCT01226459 Phase 3 5% Minoxidil Topical Foam;Vehicle Topical Foam
43 Clinical Trial in Females With Female Pattern Hair Loss Completed NCT01145625 Phase 3 5% Minoxidil;2% Minoxidil
44 The Randomized Double-blind Placebo-controlled Trial of Intralesional Botulinum Toxin A Injection for Recalcitrant Alopecia Totalis and Alopecia Universalis Completed NCT00997815 Phase 2, Phase 3 Botulinum toxin A;Normal saline injection
45 Efficacy and Safety Study to Compare Two Minoxidil Formulations on Women With Androgenetic Alopecia Completed NCT00958750 Phase 3 minoxidil
46 A Study To Assess The Efficacy And Safety Of Dutasteride 0.5mg Once Daily For 6 Months In The Treatment Of Male Subjects With Androgenetic Alopecia Completed NCT00441116 Phase 3 Dutasteride 0.5mg oral tablets
47 Effects of Finasteride on Serum Prostate-Specific Antigen (0906-111) Completed NCT00396175 Phase 3 MK0906, finasteride / Duration of Treatment : 48 Weeks;Comparator : placebo (unspecified) / Duration of Treatment : 48 Weeks
48 A Study to Evaluate the Effectiveness and Safety of 5 Percent Minoxidil Foam in the Treatment of Male Pattern Hair Loss Completed NCT00151515 Phase 3 minoxidil
49 Phase II Randomized Bilateral Comparison of Topical Targretin Gel 1% in Alopecia Areata Completed NCT00063076 Phase 2, Phase 3 Targretin Gel 1%
50 Efficacy and Safety Study to Compare Topical Herbal Solution and Minoxidil 5% in Male Pattern Hair Loss Recruiting NCT03753113 Phase 3 Topical Minoxidil 5%

Search NIH Clinical Center for Hypotrichosis

Cochrane evidence based reviews: hypotrichosis

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Genetic Tests for Hypotrichosis

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Genetic tests related to Hypotrichosis:

# Genetic test Affiliating Genes
1 Hypotrichosis 29
Sources

Anatomical Context for Hypotrichosis

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MalaCards organs/tissues related to Hypotrichosis:

41
Skin, Eye, Liver, Bone, Thyroid
Sources

Publications for Hypotrichosis

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Articles related to Hypotrichosis:

(show top 50) (show all 313)
# Title Authors Year
1
Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS). ( 29307792 )
2018
2
Therapeutic potential of bimatoprost for the treatment of eyebrow hypotrichosis. ( 29503529 )
2018
3
A novel insertion mutation of CDSN responsible for hypotrichosis simplex of scalp in a Chinese family. ( 29797736 )
2018
4
Clinical course of the first Japanese family with Marie Unna hereditary hypotrichosis: a follow-up report. ( 29952295 )
2018
5
Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review. ( 29464811 )
2018
6
A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family. ( 29611532 )
2018
7
Hypotrichosis in a Child with Olmsted Syndrome. ( 29441307 )
2018
8
Congenital Hypotrichosis and Congenital Atrichia. ( 29551108 )
2018
9
Topical Treatment of Eyebrow Hypotrichosis with Bimatoprost 0.03% Solution: Case Report and Literature Review. ( 30042917 )
2018
10
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex. ( 30401459 )
2018
11
Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin. ( 30425301 )
2018
12
A novel autosomal dominant mutation in SOX18 resulting in a fatal case of hypotrichosis-lymphedema-telangiectasia syndrome. ( 30549413 )
2018
13
Novel CLDN1 mutation in ichthyosis-hypotrichosis-sclerosing-cholangitis syndrome without signs of liver disease. ( 28906553 )
2017
14
Novel heterozygous mutation, c.74C&amp;gt;G (p.Pro25Arg), in the U2HR gene underlies Marie Unna hereditary hypotrichosis in a Japanese family. ( 28406533 )
2017
15
A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome. ( 29208051 )
2017
16
Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair/hypotrichosis (ARWH/HT). ( 29346610 )
2017
17
A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis. ( 28899683 )
2017
18
New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report. ( 28061825 )
2017
19
Hereditary hypotrichosis simplex of the scalp. ( 28873114 )
2017
20
<i>CDH3</i> gene related hypotrichosis and juvenile macular dystrophy - A case with a novel mutation. ( 29260097 )
2017
21
Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families. ( 28425126 )
2017
22
Hypotrichosis with juvenile macular dystrophy: a case report with molecular study. ( 28380103 )
2017
23
Diffuse Palmoplantar Keratoderma, Onychodystrophy, universal Hypotrichosis and Cysts. ( 28871934 )
2017
24
Novel homozygous sequence variants in the CDH3 gene encoding P-cadherin underlying hypotrichosis with juvenile macular dystrophy in consanguineous families. ( 27456782 )
2016
25
Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles. ( 26902920 )
2016
26
Bimatoprost solution 0.03% topical application to the eyelid margin for the treatment of eyelash hypotrichosis. ( 26873623 )
2016
27
Topical cetirizine and oral vitamin D: a valid treatment for hypotrichosis caused by ectodermal dysplasia. ( 27504742 )
2016
28
Diffuse hypotrichosis from early childhood. ( 27646750 )
2016
29
Bimatoprost 0.03% for the Treatment of Eyebrow Hypotrichosis. ( 27124878 )
2016
30
Frameshift Sequence Variants in the Human Lipase-H Gene Causing Hypotrichosis. ( 26645693 )
2016
31
Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T&amp;gt;A LIPH mutation. ( 27375176 )
2016
32
Mutational analysis of 29 patients with autosomal recessive woolly hair and hypotrichosis: LIPH mutations are extremely predominant in autosomal recessive woolly hair and hypotrichosis in Japan. ( 27641630 )
2016
33
A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing. ( 26631803 )
2016
34
Hypotrichosis with juvenile macular dystrophy: Portuguese case. ( 27617529 )
2016
35
Phenotypic observations in &amp;quot;hypotrichosis with juvenile macular dystrophy&amp;quot; (recessive CDH3 mutations). ( 26885695 )
2016
36
Case of autosomal recessive woolly hair/hypotrichosis with atopic dermatitis. ( 27774676 )
2016
37
Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy. ( 27157923 )
2016
38
Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy. ( 27386845 )
2016
39
Novel p.Glu519Gln missense mutation in ST14 in a patient with ichthyosis, follicular atrophoderma and hypotrichosis and review of the literature. ( 26596219 )
2016
40
Analysis of unique mutations in the LPAR6 gene identified in a Japanese family with autosomal recessive woolly hair/hypotrichosis: Establishment of a useful assay system for LPA6. ( 25828854 )
2015
41
Hypotrichosis, milia, brachydactyly, and frenula. ( 26177262 )
2015
42
Aortic Dilatation Associated With a De Novo Mutation inA theA SOX18 Gene: Expanding the Clinical Spectrum ofA Hypotrichosis-Lymphedema-Telangiectasia Syndrome. ( 26148450 )
2015
43
Identification of mutations in U2HR in two Chinese families with Marie Unna hereditary hypotrichosis. ( 26269244 )
2015
44
Novel mutation in LIPH in a Lebanese patient with autosomal recessive woolly hair/hypotrichosis. ( 26046953 )
2015
45
Management of hypotrichosis of the eyelashes: focus on bimatoprost. ( 26020474 )
2015
46
Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix. ( 26173648 )
2015
47
Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. ( 26370416 )
2015
48
A Deletion in FOXN1 Is Associated with a Syndrome Characterized by Congenital Hypotrichosis and Short Life Expectancy in Birman Cats. ( 25781316 )
2015
49
Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis. ( 25895478 )
2015
50
Topical minoxidil improves congenital hypotrichosis caused by LIPH mutations. ( 25819726 )
2015
Sources

Variations for Hypotrichosis

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Sources

Expression for Hypotrichosis

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Search GEO for disease gene expression data for Hypotrichosis.
Sources

Pathways for Hypotrichosis

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Pathways related to Hypotrichosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Developmental Biology 66
Show member pathways
 12.71 CDSN DSC3 DSG1 DSG4 KRT25 KRT71
2
Keratinization 66
Show member pathways
 11.62 CDSN DSC3 DSG1 DSG4 KRT25 KRT71
Sources

GO Terms for Hypotrichosis

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

# Name GO ID Score Top Affiliating Genes
1 intermediate filament GO:0005882 9.56 GJA1 KRT25 KRT71 KRT74
2 cell-cell junction GO:0005911 9.46 CDSN DSC3 DSG1 GJA1
3 cornified envelope GO:0001533 9.26 CDSN DSC3 DSG1 DSG4
4 desmosome GO:0030057 8.92 CDSN DSC3 DSG1 DSG4

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.83 CDH3 CDSN DSC3 DSG1 DSG4
2 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.62 CDH3 DSC3 DSG1 DSG4
3 cell-cell adhesion GO:0098609 9.56 CDH3 CDSN DSG1 DSG4
4 keratinization GO:0031424 9.5 CDH3 DSC3 DSG1 DSG4 KRT25 KRT71
5 hair follicle morphogenesis GO:0031069 9.49 KRT25 KRT71
6 embryonic heart tube development GO:0035050 9.48 GJA1 SOX18
7 hair cycle GO:0042633 9.46 KRT25 SNRPE
8 hair follicle development GO:0001942 9.46 APCDD1 DSG4 HOXC13 SOX18
9 intermediate filament organization GO:0045109 9.4 KRT25 KRT71
10 hair cycle process GO:0022405 9.37 CDH3 SOX18
11 cornification GO:0070268 9.17 CDSN DSC3 DSG1 DSG4 KRT25 KRT71
Sources

Sources for Hypotrichosis

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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