MCID: HYP087
MIFTS: 48

Hypotrichosis

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Hypotrichosis

MalaCards integrated aliases for Hypotrichosis:

Name: Hypotrichosis 12 72 28 41 14

Classifications:



External Ids:

Disease Ontology 12 DOID:4535
MeSH 41 D007039
NCIt 46 C34720
SNOMED-CT 64 53602002 56558005
UMLS 69 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 is Keratinization. The drugs Clobetasol and Minoxidil have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and testes, and related phenotype is integument.

Wikipedia : 72 Hypotrichosis (hypo- + tricho- + -osis) is a condition of abnormal hair patterns, predominantly loss or... 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 142)
# Related Disease Score Top Affiliating Genes
1 hypotrichosis 6 34.1 DSG4 KRT74 LIPH LPAR6
2 hypotrichosis 7 34.0 DSG4 KRT25 KRT74 LIPH LPAR6
3 hypotrichosis 8 33.9 DSG4 KRT25 KRT74 LIPH LPAR6
4 hypotrichosis 13 33.8 KRT25 KRT71 KRT74 LIPH
5 hypotrichosis simplex of the scalp 33.7 CDSN KRT74
6 hypotrichosis simplex 33.5 APCDD1 CDSN DSG4 LIPH LPAR6 RPL21
7 monilethrix 32.5 DSG4 KRT74 LPAR6
8 ectodermal dysplasia 4, hair/nail type 31.7 HOXC13 KRT74
9 alopecia 31.5 DCAF17 GJA1 HR
10 woolly hair syndrome 31.4 KRT25 KRT71 KRT74 LIPH LPAR6
11 skin disease 29.8 CDSN DSG4 GJA1
12 hypotrichosis 2 12.4
13 hypotrichosis, congenital, with juvenile macular dystrophy 12.3
14 hypotrichosis-lymphedema-telangiectasia syndrome 12.3
15 hypotrichosis 1 12.3
16 hypotrichosis 4 12.3
17 marie unna congenital hypotrichosis 12.3
18 hypotrichosis 3 12.3
19 hypotrichosis and recurrent skin vesicles 12.2
20 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 12.2
21 hypotrichosis 11 12.1
22 hypotrichosis 12 12.1
23 erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige 12.1
24 hypotrichosis 5 12.1
25 hypotrichosis 9 12.1
26 hypotrichosis 10 12.1
27 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 12.0
28 metaphyseal dysplasia without hypotrichosis 12.0
29 ichthyosis, congenital, autosomal recessive 11 12.0
30 hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 11.9
31 woolly hair, hypotrichosis, everted lower lip, and outstanding ears 11.9
32 juvenile macular degeneration and hypotrichosis 11.9
33 hypotrichosis-deafness syndrome 11.9
34 spondyloepimetaphyseal dysplasia with hypotrichosis 11.8
35 brachymetapody-anodontia-hypotrichosis-albinoidism 11.8
36 leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis 11.8
37 hypotrichosis, progressive patterned scalp, with wiry hair, onycholysis, and cleft lip/palate 11.8
38 hypotrichosis of eyelid 11.7
39 congenital hypotrichosis milia 11.7
40 leukomelanoderma mental redardation hypotrichosis 11.7
41 hypotrichosis-intellectual disability, lopes type 11.7
42 bazex syndrome 11.7
43 palmoplantar keratoderma and congenital alopecia 1 11.6
44 schopf-schulz-passarge syndrome 11.6
45 rombo syndrome 11.5
46 ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis 11.5
47 woolly hair, autosomal recessive 3 11.4
48 hallermann-streiff syndrome 11.2
49 cartilage-hair hypoplasia 11.2
50 sc phocomelia syndrome 11.1

Graphical network of the top 20 diseases related to Hypotrichosis:



Diseases related to Hypotrichosis

Symptoms & Phenotypes for Hypotrichosis

MGI Mouse Phenotypes related to Hypotrichosis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.32 CDH3 DSC3 DSG4 GJA1 HOXC13 HR

Drugs & Therapeutics for Hypotrichosis

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

(show top 50) (show all 231)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clobetasol Approved, Investigational Phase 4,Phase 3 25122-41-2, 25122-46-7 5311051 32798
2
Minoxidil Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 38304-91-5 4201
3
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
4
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
5
Triamcinolone Approved, Vet_approved Phase 4,Phase 2 124-94-7 31307
6
Finasteride Approved Phase 4,Phase 3,Phase 1,Phase 2 98319-26-7 57363
7
Bimatoprost Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 155206-00-1 5311027
8
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
9
Latanoprost Approved, Investigational Phase 4 130209-82-4 5311221 5282380
10
Imiquimod Approved, Investigational Phase 4 99011-02-6 57469
11
Hydroxychloroquine Approved Phase 4 118-42-3 3652
12
Capsaicin Approved Phase 4 404-86-4 1548943
13
Spironolactone Approved Phase 4,Phase 2 1952-01-7, 52-01-7 5833
14
Apremilast Approved, Investigational Phase 4 608141-41-9 11561674
15 Orange Approved, Nutraceutical Phase 4
16 Anti-Inflammatory Agents Phase 4,Phase 3,Phase 2
17 Dermatologic Agents Phase 4,Phase 3
18 Emollients Phase 4
19 glucocorticoids Phase 4,Phase 3,Phase 2
20 Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2
21 Hormones Phase 4,Phase 3,Phase 1,Phase 2
22 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 1,Phase 2
23 Antihypertensive Agents Phase 4,Phase 3,Phase 1,Phase 2
24 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
25 Vasodilator Agents Phase 4,Phase 3,Phase 1,Phase 2
26 Anti-Asthmatic Agents Phase 4,Phase 1,Phase 2
27 Respiratory System Agents Phase 4,Phase 1,Phase 2
28 Antiemetics Phase 4
29 Antineoplastic Agents, Hormonal Phase 4,Phase 3,Phase 1
30 Autonomic Agents Phase 4,Phase 1,Phase 2
31 Gastrointestinal Agents Phase 4
32 Methylprednisolone acetate Phase 4
33 Methylprednisolone Hemisuccinate Phase 4
34 Neuroprotective Agents Phase 4,Phase 2
35 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
36 Prednisolone acetate Phase 4
37 Prednisolone hemisuccinate Phase 4
38 Prednisolone phosphate Phase 4
39 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1
40 Adjuvants, Immunologic Phase 4,Phase 2
41 Anti-Infective Agents Phase 4,Phase 2
42 Antirheumatic Agents Phase 4,Phase 3,Phase 2
43 Immunosuppressive Agents Phase 4,Phase 3,Phase 2
44 triamcinolone acetonide Phase 4,Phase 2
45 Triamcinolone diacetate Phase 4,Phase 2
46 Triamcinolone hexacetonide Phase 4,Phase 2
47 Analgesics Phase 4,Phase 1,Phase 2,Early Phase 1
48 Analgesics, Non-Narcotic Phase 4,Phase 1,Phase 2
49 Anti-Bacterial Agents Phase 4
50 5-alpha Reductase Inhibitors Phase 4,Phase 3,Phase 1,Phase 2

Interventional clinical trials:

(show top 50) (show all 224)

# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Clobetasol Propionate 0.05% E Foam in Alopecia Unknown status NCT01111981 Phase 4 Clobetasol Propionate 0.05% Emollient Foam
2 Latisse (Bimatoprost .03% Opthalmic Solution) for the Treatment of Hypotrichosis of the Eyebrows: Latisse Versus Placebo Completed NCT01387906 Phase 4 topical bimatoprost
3 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)
4 Safety and Efficacy of Bimatoprost 0.03% Solution for the Treatment of Thinning Eyebrows Completed NCT01891487 Phase 4 Track A;Track B
5 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
6 Study Assessing Patient Satisfaction With LATISSE® for Increasing Eyelash Prominence Completed NCT01448525 Phase 4 bimatoprost ophthalmic solution 0.03%;bimatoprost vehicle solution
7 Safety and Efficacy of LATISSE® in the Augmentation of Eyelashes of Korean Subjects Completed NCT01229423 Phase 4 bimatoprost 0.03%
8 Minoxidil 2% for Eyebrow Enhancement Completed NCT01672307 Phase 4 Minoxidil lotion 2%;Placebo
9 Minoxidil 1% for Eyebrow Enhancement Completed NCT01924000 Phase 4 Minoxidil lotion 1%;Placebo
10 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%
11 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
12 Aldara for the Treatment of Extensive Alopecia Areata Completed NCT00177021 Phase 4 Aldara Cream 5%
13 Plaquenil for Alopecia Areata, Alopecia Totalis Completed NCT00176982 Phase 4 Hydroxychloroquine
14 Response of Topical Capsaicin in Alopecia Areata Completed NCT00176969 Phase 4 Capsaicin
15 Characteristics of T Cells From Alopecia Areata Scalp Skin Before and After Treatment With Aldara 5% Completed NCT00176943 Phase 4 Aldara Cream 5%
16 Adipose Derived Stem Cells Versus Platelet Rich Plasma on Follicular Unit Extraction Recruiting NCT03388840 Phase 4
17 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
18 Acupuncture for Sedation in the Intensive Care Unit (ICU) Active, not recruiting NCT01362270 Phase 4
19 Comparing Different Platelet Rich Plasma (PRP) Treatment Regimens for Management of Androgenic Alopecia Active, not recruiting NCT02999737 Phase 4
20 Trial Evaluating the Efficacy of Apremilast for the Treatment of Frontal Fibrosing Alopecia Not yet recruiting NCT03422640 Phase 4 Apremilast
21 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
22 Topical Garlic Concentrate for Alopecia Areata in Children Unknown status NCT02691117 Phase 3 garlic concentrate
23 Efficacy and Safety of Mesotherapy With Minoxidil 0.5%/2ml for Androgenetic Alopecia in Female Patients Unknown status NCT01655108 Phase 3 Minoxidil;Saline
24 Safety and Efficacy Study of Bimatoprost in Japanese Patients With Eyelash Hypotrichosis Completed NCT01391273 Phase 3 bimatoprost solution 0.03%;bimatoprost vehicle solution
25 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
26 Bimatoprost for the Treatment of Eyebrow Hypotrichosis Completed NCT01765764 Phase 3 bimatoprost solution;Vehicle to bimatoprost solution
27 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 %
28 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
29 Study of Bimatoprost Gel on Eyelash Growth Completed NCT01200251 Phase 3 Bimatoprost eyelash gel
30 Sexual Function in Men Receiving Dutasteride for Androgenetic Alopecia Completed NCT02014584 Phase 3 Dutasteride;Placebo
31 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
32 Enhancing Hair Density With Platelet Rich Fibrin Matrix (PRFM) Completed NCT01590238 Phase 3
33 A Trial of Clobetasol Propionate Versus Hydrocortisone in Children With Alopecia Areata Completed NCT01453686 Phase 3 Hydrocortisone 1%;Clobetasol Propionate 0.05%
34 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
35 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
36 Clinical Trial in Females for Female Pattern Hair Loss Completed NCT01226459 Phase 3 5% Minoxidil Topical Foam;Vehicle Topical Foam
37 Clinical Trial in Females With Female Pattern Hair Loss Completed NCT01145625 Phase 3 5% Minoxidil;2% Minoxidil
38 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
39 Efficacy and Safety Study to Compare Two Minoxidil Formulations on Women With Androgenetic Alopecia Completed NCT00958750 Phase 3 minoxidil
40 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
41 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
42 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
43 Phase II Randomized Bilateral Comparison of Topical Targretin Gel 1% in Alopecia Areata Completed NCT00063076 Phase 2, Phase 3 Targretin Gel 1%
44 The Efficiency Of The Methotrexate At Patients Affected By Grave Pelade Recruiting NCT02037191 Phase 3 Methotrexate;Placebo
45 Study to Evaluate the Efficacy and Safety of P-3074 Topical Solution in the Treatment of Androgenetic Alopecia Active, not recruiting NCT03004469 Phase 3 P-3074;Finasteride;Vehicle
46 TREg Activation in the Treatment of the PELADE (Alopecia Areata) Active, not recruiting NCT02557074 Phase 3 IL2;placebo
47 Efficacy and Safety of LH-8 in Paediatric Alopecia Areata Not yet recruiting NCT03240627 Phase 2, Phase 3 LH-8;Placebos
48 Evaluation of the Efficacy and Tolerability of Treatment With Interleukin-2 in Severe and Resistant Alopecia Areata Unknown status NCT01840046 Phase 1, Phase 2 Interleukin-2
49 Excimer Light for Alopecia Areata Unknown status NCT01802177 Phase 2
50 Stem Cell Educator Therapy in Alopecia Areata Unknown status NCT01673789 Phase 1, Phase 2

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 28

Anatomical Context for Hypotrichosis

MalaCards organs/tissues related to Hypotrichosis:

38
Skin, Breast, Testes, Brain, Bone, T Cells, Prostate

Publications for Hypotrichosis

Articles related to Hypotrichosis:

(show top 50) (show all 299)
# Title Authors Year
1
Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS). ( 29307792 )
2018
2
Hypotrichosis in a Child with Olmsted Syndrome. ( 29441307 )
2018
3
New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report. ( 28061825 )
2017
4
Novel CLDN1 mutation in ichthyosis-hypotrichosis-sclerosing-cholangitis syndrome without signs of liver disease. ( 28906553 )
2017
5
Novel sequence variants in the LIPH and LPAR6 genes underlies autosomal recessive woolly hair/hypotrichosis in consanguineous families. ( 28425126 )
2017
6
Hereditary hypotrichosis simplex of the scalp. ( 28873114 )
2017
7
<i>CDH3</i> gene related hypotrichosis and juvenile macular dystrophy - A case with a novel mutation. ( 29260097 )
2017
8
Novel heterozygous mutation, c.74C>G (p.Pro25Arg), in the U2HR gene underlies Marie Unna hereditary hypotrichosis in a Japanese family. ( 28406533 )
2017
9
Diffuse Palmoplantar Keratoderma, Onychodystrophy, universal Hypotrichosis and Cysts. ( 28871934 )
2017
10
A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis. ( 28899683 )
2017
11
Hypotrichosis with juvenile macular dystrophy: a case report with molecular study. ( 28380103 )
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 novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome. ( 29208051 )
2017
14
Topical cetirizine and oral vitamin D: a valid treatment for hypotrichosis caused by ectodermal dysplasia. ( 27504742 )
2016
15
Novel homozygous sequence variants in the CDH3 gene encoding P-cadherin underlying hypotrichosis with juvenile macular dystrophy in consanguineous families. ( 27456782 )
2016
16
Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles. ( 26902920 )
2016
17
Novel p.Glu519Gln missense mutation in ST14 in a patient with ichthyosis, follicular atrophoderma and hypotrichosis and review of the literature. ( 26596219 )
2016
18
Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>A LIPH mutation. ( 27375176 )
2016
19
Frameshift Sequence Variants in the Human Lipase-H Gene Causing Hypotrichosis. ( 26645693 )
2016
20
Bimatoprost 0.03% for the Treatment of Eyebrow Hypotrichosis. ( 27124878 )
2016
21
A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing. ( 26631803 )
2016
22
Hypotrichosis and juvenile macular dystrophy caused by CDH3 mutation: A candidate disease for retinal gene therapy. ( 27157923 )
2016
23
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
24
Case of autosomal recessive woolly hair/hypotrichosis with atopic dermatitis. ( 27774676 )
2016
25
Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy. ( 27386845 )
2016
26
Hypotrichosis with juvenile macular dystrophy: Portuguese case. ( 27617529 )
2016
27
Bimatoprost solution 0.03% topical application to the eyelid margin for the treatment of eyelash hypotrichosis. ( 26873623 )
2016
28
Diffuse hypotrichosis from early childhood. ( 27646750 )
2016
29
Phenotypic observations in "hypotrichosis with juvenile macular dystrophy" (recessive CDH3 mutations). ( 26885695 )
2016
30
Novel mutation in LIPH in a Lebanese patient with autosomal recessive woolly hair/hypotrichosis. ( 26046953 )
2015
31
Novel D323G mutation of DSG4 gene in a girl with localized autosomal recessive hypotrichosis clinically overlapped with monilethrix. ( 26173648 )
2015
32
Topical minoxidil improves congenital hypotrichosis caused by LIPH mutations. ( 25819726 )
2015
33
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
34
Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. ( 26370416 )
2015
35
A Deletion in FOXN1 Is Associated with a Syndrome Characterized by Congenital Hypotrichosis and Short Life Expectancy in Birman Cats. ( 25781316 )
2015
36
A case of hypotrichosis with juvenile macular dystrophy. ( 25621871 )
2015
37
Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T>A (p.Cys246Ser) in autosomal recessive woolly hair/hypotrichosis. ( 25899282 )
2015
38
Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis. ( 25895478 )
2015
39
Management of hypotrichosis of the eyelashes: focus on bimatoprost. ( 26020474 )
2015
40
Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1-q32.2. ( 25999149 )
2015
41
Hypotrichosis, milia, brachydactyly, and frenula. ( 26177262 )
2015
42
Bimatoprost 0.03% for the Treatment of Eyelash Hypotrichosis: A Pooled Safety Analysis of Six Randomized, Double-masked Clinical Trials. ( 26203317 )
2015
43
Identification of mutations in U2HR in two Chinese families with Marie Unna hereditary hypotrichosis. ( 26269244 )
2015
44
Aortic Dilatation Associated With a De Novo Mutation inA theA SOX18 Gene: Expanding the Clinical Spectrum ofA Hypotrichosis-Lymphedema-Telangiectasia Syndrome. ( 26148450 )
2015
45
Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair. ( 24628704 )
2014
46
A homozygous mutation, c.736T>A (p.C246S), in LIPH gene in a patient manifesting woolly hair, hypotrichosis, hearing difficulty, cleft palate and amblyopia. ( 24722066 )
2014
47
A retrospective review and observational study of outcomes and safety of bimatoprost ophthalmic solution 0.03% for treating eyelash hypotrichosis. ( 25229783 )
2014
48
In silico analysis of missense mutations in LPAR6 reveals abnormal phospholipid signaling pathway leading to hypotrichosis. ( 25119526 )
2014
49
Hereditary hypotrichosis simplex of the scalp. ( 25484430 )
2014
50
A novel nonsense mutation in the CDSN gene underlying hypotrichosis simplex of the scalp in a Chinese family. ( 23746069 )
2014

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
11.56 CDSN DSC3 DSG4 KRT25 KRT71 KRT74

GO Terms for Hypotrichosis

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

# Name GO ID Score Top Affiliating Genes
1 cell-cell junction GO:0005911 9.43 CDSN DSC3 GJA1
2 cornified envelope GO:0001533 9.33 CDSN DSC3 DSG4
3 intermediate filament GO:0005882 9.26 GJA1 KRT25 KRT71 KRT74
4 desmosome GO:0030057 8.8 CDSN DSC3 DSG4

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

# Name GO ID Score Top Affiliating Genes
1 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.65 CDH3 DSC3 DSG4
2 cell-cell adhesion GO:0098609 9.61 CDH3 CDSN DSG4
3 hair follicle morphogenesis GO:0031069 9.46 KRT25 KRT71
4 hair follicle development GO:0001942 9.46 APCDD1 DSG4 HOXC13 SOX18
5 keratinization GO:0031424 9.43 CDH3 DSC3 DSG4 KRT25 KRT71 KRT74
6 embryonic heart tube development GO:0035050 9.4 GJA1 SOX18
7 intermediate filament organization GO:0045109 9.37 KRT25 KRT71
8 hair cycle GO:0042633 9.32 KRT25 SNRPE
9 hair cycle process GO:0022405 9.26 CDH3 SOX18
10 cornification GO:0070268 9.1 CDSN DSC3 DSG4 KRT25 KRT71 KRT74

Sources for Hypotrichosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....