MCID: HYP087
MIFTS: 48

Hypotrichosis

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Hypotrichosis

MalaCards integrated aliases for Hypotrichosis:

Name: Hypotrichosis 12 76 29 44 15

Classifications:



External Ids:

Disease Ontology 12 DOID:4535
MeSH 44 D007039
NCIt 50 C34720
SNOMED-CT 68 53602002 56558005
UMLS 73 C0020678

Summaries for Hypotrichosis

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 MUHH2 (Hypotrichosis, Hereditary, Marie Unna Type, 2), and among its related pathways/superpathways are Developmental Biology and Keratinization. The drugs Minoxidil and Clobetasol have been mentioned in the context of this disorder. Affiliated tissues include skin, brain and testes, and related phenotype is integument.

Wikipedia : 76 Hair loss, also known as alopecia or baldness, refers to a loss of hair from part of the head or body.... more...

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

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

(show top 50) (show all 145)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 6 34.6 DSG4 KRT74 LIPH LPAR6
2 hypotrichosis 7 34.4 DSG4 KRT25 KRT74 LIPH LPAR6
3 hypotrichosis 13 34.2 KRT25 KRT71 KRT74 LIPH
4 hypotrichosis simplex of the scalp 34.2 CDSN KRT74
5 hypotrichosis 8 34.1 DSG4 KRT25 KRT74 LIPH LPAR6
6 hypotrichosis simplex 33.7 APCDD1 CDSN DSG4 LIPH LPAR6 RPL21
7 monilethrix 32.9 DSG4 KRT74 LPAR6
8 woolly hair syndrome 32.4 KRT25 KRT71 KRT74 LIPH LPAR6
9 ectodermal dysplasia 4, hair/nail type 32.0 HOXC13 KRT74
10 ectodermal dysplasia 30.7 CDH3 HOXC13 KRT74
11 pemphigus vulgaris 30.5 DSC3 DSG1 DSG4
12 pemphigus 30.4 DSC3 DSG1 DSG4
13 skin disease 29.9 CDSN DSC3 DSG1 DSG4 GJA1
14 hypotrichosis 2 12.4
15 hypotrichosis, congenital, with juvenile macular dystrophy 12.3
16 hypotrichosis 1 12.3
17 hypotrichosis-lymphedema-telangiectasia syndrome 12.3
18 hypotrichosis 4 12.3
19 hypotrichosis 3 12.3
20 hypotrichosis and recurrent skin vesicles 12.2
21 marie unna congenital hypotrichosis 12.2
22 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 12.2
23 hypotrichosis 11 12.2
24 hypotrichosis 12 12.2
25 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 12.1
26 hypotrichosis 5 12.1
27 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 12.1
28 metaphyseal dysplasia without hypotrichosis 12.1
29 hypotrichosis 9 12.1
30 hypotrichosis 10 12.1
31 ichthyosis, congenital, autosomal recessive 11 12.0
32 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 11.9
33 juvenile macular degeneration and hypotrichosis 11.9
34 woolly hair, hypotrichosis, everted lower lip, and outstanding ears 11.9
35 hypotrichosis-deafness syndrome 11.9
36 spondyloepimetaphyseal dysplasia with hypotrichosis 11.8
37 brachymetapody-anodontia-hypotrichosis-albinoidism 11.8
38 leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis 11.8
39 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate 11.8
40 hypotrichosis of eyelid 11.7
41 congenital hypotrichosis milia 11.7
42 leukomelanoderma mental redardation hypotrichosis 11.7
43 hypotrichosis-intellectual disability, lopes type 11.7
44 bazex syndrome 11.7
45 schopf-schulz-passarge syndrome 11.6
46 palmoplantar keratoderma and congenital alopecia 1 11.6
47 rombo syndrome 11.5
48 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 11.5
49 woolly hair, autosomal recessive 3 11.4
50 hallermann-streiff syndrome 11.2

Graphical network of the top 20 diseases related to Hypotrichosis:



Diseases related to Hypotrichosis

Symptoms & Phenotypes for Hypotrichosis

MGI Mouse Phenotypes related to Hypotrichosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.36 SOX18 CDH3 DSC3 DSG1 DSG4 GJA1

Drugs & Therapeutics for Hypotrichosis

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

(show top 50) (show all 235)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Minoxidil Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 38304-91-5 4201
2
Clobetasol Approved, Investigational Phase 4,Phase 3 25122-46-7, 25122-41-2 32798 5311051
3
Finasteride Approved Phase 4,Phase 3,Phase 1,Phase 2 98319-26-7 57363
4
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Not Applicable 124-94-7 31307
5
Prednisolone Approved, Vet_approved Phase 4,Not Applicable 50-24-8 5755
6
Methylprednisolone Approved, Vet_approved Phase 4,Not Applicable 83-43-2 6741
7
Spironolactone Approved Phase 4,Phase 2 1952-01-7, 52-01-7 5833
8
Hydroxychloroquine Approved Phase 4 118-42-3 3652
9
Capsaicin Approved Phase 4,Not Applicable 404-86-4 1548943
10
Imiquimod Approved, Investigational Phase 4 99011-02-6 57469
11
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
12
Latanoprost Approved, Investigational Phase 4,Not Applicable 130209-82-4 5282380 5311221
13
Bimatoprost Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 155206-00-1 5311027
14
Apremilast Approved, Investigational Phase 4,Not Applicable 608141-41-9 11561674
15 Orange Approved, Nutraceutical Phase 4,Not Applicable
16 triamcinolone acetonide Phase 4,Phase 2,Not Applicable
17 Prednisolone acetate Phase 4,Not Applicable
18 Analgesics Phase 4,Phase 1,Phase 2,Early Phase 1,Not Applicable
19 glucocorticoids Phase 4,Phase 3,Phase 2,Not Applicable
20 5-alpha Reductase Inhibitors Phase 4,Phase 3,Phase 1,Phase 2
21 Respiratory System Agents Phase 4,Phase 1,Phase 2
22 Methylprednisolone acetate Phase 4,Not Applicable
23 Methylprednisolone Hemisuccinate Phase 4,Not Applicable
24 Adjuvants, Immunologic Phase 4,Phase 2,Not Applicable
25 Gastrointestinal Agents Phase 4,Not Applicable
26 Neuroprotective Agents Phase 4,Phase 2,Not Applicable
27 Steroid Synthesis Inhibitors Phase 4,Phase 3,Phase 1,Phase 2
28 Analgesics, Non-Narcotic Phase 4,Phase 1,Phase 2,Not Applicable
29 Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
30 Dermatologic Agents Phase 4,Phase 3,Not Applicable
31 Triamcinolone diacetate Phase 4,Phase 2,Not Applicable
32 Triamcinolone hexacetonide Phase 4,Phase 2,Not Applicable
33 Hormones Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
34 Anti-Anxiety Agents Phase 4,Early Phase 1
35 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
36 Vasodilator Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
37 Anti-Asthmatic Agents Phase 4,Phase 1,Phase 2
38 Emollients Phase 4
39 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
40 Anti-Bacterial Agents Phase 4,Not Applicable
41 Hypnotics and Sedatives Phase 4
42 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
43 Antihypertensive Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
44 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Not Applicable
45 Prednisolone hemisuccinate Phase 4,Not Applicable
46 Prednisolone phosphate Phase 4,Not Applicable
47 Anti-Infective Agents Phase 4,Phase 2,Not Applicable
48 Antiemetics Phase 4,Not Applicable
49 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
50 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2,Not Applicable

Interventional clinical trials:

(show top 50) (show all 241)
# Name Status NCT ID Phase Drugs
1 Acupuncture for Sedation in the Intensive Care Unit (ICU) Unknown status NCT01362270 Phase 4
2 Safety and Efficacy of Clobetasol Propionate 0.05% E Foam in Alopecia Unknown status NCT01111981 Phase 4 Clobetasol Propionate 0.05% Emollient Foam
3 Latisse (Bimatoprost .03% Opthalmic Solution) for the Treatment of Hypotrichosis of the Eyebrows: Latisse Versus Placebo Completed NCT01387906 Phase 4 topical bimatoprost
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 Bimatoprost 0.03% Solution for the Treatment of Thinning Eyebrows Completed NCT01891487 Phase 4 Track A;Track B
6 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
7 Study Assessing Patient Satisfaction With LATISSE® for Increasing Eyelash Prominence Completed NCT01448525 Phase 4 bimatoprost ophthalmic solution 0.03%;bimatoprost vehicle solution
8 Safety and Efficacy of LATISSE® in the Augmentation of Eyelashes of Korean Subjects Completed NCT01229423 Phase 4 bimatoprost 0.03%
9 Minoxidil 2% for Eyebrow Enhancement Completed NCT01672307 Phase 4 Minoxidil lotion 2%;Placebo
10 Minoxidil 1% for Eyebrow Enhancement Completed NCT01924000 Phase 4 Minoxidil lotion 1%;Placebo
11 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
12 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%
13 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
14 Aldara for the Treatment of Extensive Alopecia Areata Completed NCT00177021 Phase 4 Aldara Cream 5%
15 Plaquenil for Alopecia Areata, Alopecia Totalis Completed NCT00176982 Phase 4 Hydroxychloroquine
16 Response of Topical Capsaicin in Alopecia Areata Completed NCT00176969 Phase 4 Capsaicin
17 Characteristics of T Cells From Alopecia Areata Scalp Skin Before and After Treatment With Aldara 5% Completed NCT00176943 Phase 4 Aldara Cream 5%
18 Apremilast in the Treatment of Central Centrifugal Cicatricial Alopecia (CCCA) Recruiting NCT03521687 Phase 4 Apremilast
19 Adipose Derived Stem Cells Versus Platelet Rich Plasma on Follicular Unit Extraction Recruiting NCT03388840 Phase 4
20 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
21 Comparing Different Platelet Rich Plasma (PRP) Treatment Regimens for Management of Androgenic Alopecia Active, not recruiting NCT02999737 Phase 4
22 Cryotherapy Versus Steroids In Alopecia Areata:Trichoscopic Evaluation Not yet recruiting NCT03473600 Phase 4 Triamcinolone acetonide injection
23 Trial Evaluating the Efficacy of Apremilast for the Treatment of Frontal Fibrosing Alopecia Not yet recruiting NCT03422640 Phase 4 Apremilast
24 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
25 Efficacy and Safety of Mesotherapy With Minoxidil 0.5%/2ml for Androgenetic Alopecia in Female Patients Unknown status NCT01655108 Phase 3 Minoxidil;Saline
26 Safety and Efficacy Study of Bimatoprost in Japanese Patients With Eyelash Hypotrichosis Completed NCT01391273 Phase 3 bimatoprost solution 0.03%;bimatoprost vehicle solution
27 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
28 Bimatoprost for the Treatment of Eyebrow Hypotrichosis Completed NCT01765764 Phase 3 bimatoprost solution;Vehicle to bimatoprost solution
29 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 %
30 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
31 Study of Bimatoprost Gel on Eyelash Growth Completed NCT01200251 Phase 3 Bimatoprost eyelash gel
32 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
33 The Efficiency Of The Methotrexate At Patients Affected By Grave Pelade Completed NCT02037191 Phase 3 Methotrexate;Placebo
34 Sexual Function in Men Receiving Dutasteride for Androgenetic Alopecia Completed NCT02014584 Phase 3 Dutasteride;Placebo
35 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
36 Enhancing Hair Density With Platelet Rich Fibrin Matrix (PRFM) Completed NCT01590238 Phase 3
37 A Trial of Clobetasol Propionate Versus Hydrocortisone in Children With Alopecia Areata Completed NCT01453686 Phase 3 Hydrocortisone 1%;Clobetasol Propionate 0.05%
38 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
39 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
40 Clinical Trial in Females for Female Pattern Hair Loss Completed NCT01226459 Phase 3 5% Minoxidil Topical Foam;Vehicle Topical Foam
41 Clinical Trial in Females With Female Pattern Hair Loss Completed NCT01145625 Phase 3 5% Minoxidil;2% Minoxidil
42 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
43 Efficacy and Safety Study to Compare Two Minoxidil Formulations on Women With Androgenetic Alopecia Completed NCT00958750 Phase 3 minoxidil
44 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
45 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
46 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
47 Phase II Randomized Bilateral Comparison of Topical Targretin Gel 1% in Alopecia Areata Completed NCT00063076 Phase 2, Phase 3 Targretin Gel 1%
48 Efficacy and Safety of LH-8 in Paediatric Alopecia Areata Recruiting NCT03240627 Phase 2, Phase 3 LH-8;Placebos
49 TREg Activation in the Treatment of the PELADE (Alopecia Areata) Active, not recruiting NCT02557074 Phase 3 IL2;placebo
50 A Study of Baricitinib (LY3009104) in Participants With Severe or Very Severe Alopecia Areata Not yet recruiting NCT03570749 Phase 2, Phase 3 Baricitinib;Placebo

Search NIH Clinical Center for Hypotrichosis

Cochrane evidence based reviews: hypotrichosis

Genetic Tests for Hypotrichosis

Genetic tests related to Hypotrichosis:

# Genetic test Affiliating Genes
1 Hypotrichosis 29

Anatomical Context for Hypotrichosis

MalaCards organs/tissues related to Hypotrichosis:

41
Skin, Brain, Testes, Bone, T Cells, Prostate, Ovary

Publications for Hypotrichosis

Articles related to Hypotrichosis:

(show top 50) (show all 309)
# 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
Novel CLDN1 mutation in ichthyosis-hypotrichosis-sclerosing-cholangitis syndrome without signs of liver disease. ( 28906553 )
2017
10
Novel heterozygous mutation, c.74C>G (p.Pro25Arg), in the U2HR gene underlies Marie Unna hereditary hypotrichosis in a Japanese family. ( 28406533 )
2017
11
A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome. ( 29208051 )
2017
12
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
13
A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis. ( 28899683 )
2017
14
New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report. ( 28061825 )
2017
15
Hereditary hypotrichosis simplex of the scalp. ( 28873114 )
2017
16
<i>CDH3</i> gene related hypotrichosis and juvenile macular dystrophy - A case with a novel mutation. ( 29260097 )
2017
17
Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families. ( 28425126 )
2017
18
Hypotrichosis with juvenile macular dystrophy: a case report with molecular study. ( 28380103 )
2017
19
Diffuse Palmoplantar Keratoderma, Onychodystrophy, universal Hypotrichosis and Cysts. ( 28871934 )
2017
20
Novel homozygous sequence variants in the CDH3 gene encoding P-cadherin underlying hypotrichosis with juvenile macular dystrophy in consanguineous families. ( 27456782 )
2016
21
Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles. ( 26902920 )
2016
22
Bimatoprost solution 0.03% topical application to the eyelid margin for the treatment of eyelash hypotrichosis. ( 26873623 )
2016
23
Topical cetirizine and oral vitamin D: a valid treatment for hypotrichosis caused by ectodermal dysplasia. ( 27504742 )
2016
24
Diffuse hypotrichosis from early childhood. ( 27646750 )
2016
25
Bimatoprost 0.03% for the Treatment of Eyebrow Hypotrichosis. ( 27124878 )
2016
26
Frameshift Sequence Variants in the Human Lipase-H Gene Causing Hypotrichosis. ( 26645693 )
2016
27
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
28
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
29
A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing. ( 26631803 )
2016
30
Hypotrichosis with juvenile macular dystrophy: Portuguese case. ( 27617529 )
2016
31
Phenotypic observations in &amp;quot;hypotrichosis with juvenile macular dystrophy&amp;quot; (recessive CDH3 mutations). ( 26885695 )
2016
32
Case of autosomal recessive woolly hair/hypotrichosis with atopic dermatitis. ( 27774676 )
2016
33
Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy. ( 27157923 )
2016
34
Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy. ( 27386845 )
2016
35
Novel p.Glu519Gln missense mutation in ST14 in a patient with ichthyosis, follicular atrophoderma and hypotrichosis and review of the literature. ( 26596219 )
2016
36
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
37
Hypotrichosis, milia, brachydactyly, and frenula. ( 26177262 )
2015
38
Aortic Dilatation Associated With a De Novo Mutation inA theA SOX18 Gene: Expanding the Clinical Spectrum ofA Hypotrichosis-Lymphedema-Telangiectasia Syndrome. ( 26148450 )
2015
39
Identification of mutations in U2HR in two Chinese families with Marie Unna hereditary hypotrichosis. ( 26269244 )
2015
40
Novel mutation in LIPH in a Lebanese patient with autosomal recessive woolly hair/hypotrichosis. ( 26046953 )
2015
41
Management of hypotrichosis of the eyelashes: focus on bimatoprost. ( 26020474 )
2015
42
Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix. ( 26173648 )
2015
43
Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. ( 26370416 )
2015
44
A Deletion in FOXN1 Is Associated with a Syndrome Characterized by Congenital Hypotrichosis and Short Life Expectancy in Birman Cats. ( 25781316 )
2015
45
Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis. ( 25895478 )
2015
46
Topical minoxidil improves congenital hypotrichosis caused by LIPH mutations. ( 25819726 )
2015
47
Bimatoprost 0.03% for the Treatment of Eyelash Hypotrichosis: A Pooled Safety Analysis of Six Randomized, Double-masked Clinical Trials. ( 26203317 )
2015
48
Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1-q32.2. ( 25999149 )
2015
49
Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T&amp;gt;A (p.Cys246Ser) in autosomal recessive woolly hair/hypotrichosis. ( 25899282 )
2015
50
A case of hypotrichosis with juvenile macular dystrophy. ( 25621871 )
2015

Variations for Hypotrichosis

Expression for Hypotrichosis

Search GEO for disease gene expression data for Hypotrichosis.

Pathways for Hypotrichosis

Pathways related to Hypotrichosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.71 CDSN DSC3 DSG1 DSG4 KRT25 KRT71
2
Show member pathways
11.62 CDSN DSC3 DSG1 DSG4 KRT25 KRT71

GO Terms for Hypotrichosis

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 9.85 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 follicle development GO:0001942 9.46 APCDD1 DSG4 HOXC13 SOX18
8 intermediate filament organization GO:0045109 9.43 KRT25 KRT71
9 hair cycle GO:0042633 9.4 KRT25 SNRPE
10 hair cycle process GO:0022405 9.37 CDH3 SOX18
11 cornification GO:0070268 9.17 CDSN DSC3 DSG1 DSG4 KRT25 KRT71

Sources for Hypotrichosis

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
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