HYPT6
MCID: HYP581
MIFTS: 35

Hypotrichosis 6 (HYPT6) malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Hypotrichosis 6

Aliases & Descriptions for Hypotrichosis 6:

Name: Hypotrichosis 6 54 12 24 66 29 14 69
Hypt6 12 24 66
Hypotrichosis, Localized, Autosomal Recessive 13 52
Monilethrix-Like Hypotrichosis 12 66
Lah1 12 66
Lah 24 66
Hypotrichosis, Localized, Autosomal Recessive 1 12
Hypotrichosis Localized Autosomal Recessive 1 66
Autosomal Recessive Localized Hypotrichosis 12
Localized Autosomal Recessive Hypotrichosis 24
Hypotrichosis Localized Autosomal Recessive 66
Htl 66

Characteristics:

HPO:

32
hypotrichosis 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 607903
Disease Ontology 12 DOID:0110703
MeSH 42 D007039

Summaries for Hypotrichosis 6

OMIM : 54 Localized autosomal recessive hypotrichosis is characterized by fragile hairs that break easily, leaving short, sparse... (607903) more...

MalaCards based summary : Hypotrichosis 6, also known as hypt6, is related to loose anagen hair syndrome and noonan-like syndrome with loose anagen hair, and has symptoms including pruritus, hypotrichosis and erythema. An important gene associated with Hypotrichosis 6 is DSG4 (Desmoglein 4). The drugs Triamcinolone and Anti-Inflammatory Agents have been mentioned in the context of this disorder. Affiliated tissues include skin.

Disease Ontology : 12 A hypotrichosis that has material basis in a autosomal recessive mutation of DSG4 on chromosome 18q12.1.

UniProtKB/Swiss-Prot : 66 Hypotrichosis 6: A condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed.

Related Diseases for Hypotrichosis 6

Graphical network of the top 20 diseases related to Hypotrichosis 6:



Diseases related to Hypotrichosis 6

Symptoms & Phenotypes for Hypotrichosis 6

Symptoms by clinical synopsis from OMIM:

607903

Clinical features from OMIM:

607903

Human phenotypes related to Hypotrichosis 6:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 pruritus 32 HP:0000989
2 hypotrichosis 32 HP:0001006
3 erythema 32 HP:0010783
4 sparse eyelashes 32 HP:0000653
5 pili torti 32 HP:0003777
6 brittle hair 32 HP:0002299
7 follicular hyperkeratosis 32 HP:0007502
8 sparse and thin eyebrow 32 HP:0000535

Drugs & Therapeutics for Hypotrichosis 6

Drugs for Hypotrichosis 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 77)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
2 Anti-Inflammatory Agents Phase 4,Phase 3
3 glucocorticoids Phase 4,Phase 3
4 Hormone Antagonists Phase 4,Phase 3
5 Hormones Phase 4,Phase 3
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3
7 Immunosuppressive Agents Phase 4,Phase 3,Phase 2
8 triamcinolone acetonide Phase 4
9 Triamcinolone diacetate Phase 4
10 Triamcinolone hexacetonide Phase 4
11
Bimatoprost Approved, Investigational Phase 3,Phase 2 155206-00-1 5311027
12
Dutasteride Approved, Investigational Phase 3 164656-23-9 152945 6918296
13
Finasteride Approved Phase 3 98319-26-7 57363
14
Minoxidil Approved Phase 3,Phase 2 38304-91-5 4201
15
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754 657311
16
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
17
Prednisone Approved, Vet_approved Phase 3,Phase 2 53-03-2 5865
18
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
19
leucovorin Approved, Nutraceutical Phase 3 58-05-9 54575, 6560146 143
20
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 11103-57-4, 68-26-8 445354
21
Butyric Acid Experimental Phase 3 107-92-6 264
22 Pharmaceutical Solutions Phase 3,Phase 2
23 Antihypertensive Agents Phase 3,Phase 2
24 5-alpha Reductase Inhibitors Phase 3
25 Steroid Synthesis Inhibitors Phase 3
26 Vasodilator Agents Phase 3,Phase 2
27
Clobetasol Phase 3 25122-46-7 32798 5311051
28 Cortisol succinate Phase 3
29 Hydrocortisone 17-butyrate 21-propionate Phase 3
30 Hydrocortisone acetate Phase 3
31 Hydrocortisone-17-butyrate Phase 3
32 Antimetabolites Phase 3
33 Antimetabolites, Antineoplastic Phase 3
34 Antineoplastic Agents, Hormonal Phase 3
35 Antirheumatic Agents Phase 3,Phase 2
36 Dermatologic Agents Phase 3
37 Folic Acid Antagonists Phase 3
38 Nucleic Acid Synthesis Inhibitors Phase 3
39 Retinol palmitate Phase 3
40 Vitamin B Complex Phase 3
41 Folate Nutraceutical Phase 3
42 retinol Nutraceutical Phase 3
43 Vitamin B9 Nutraceutical Phase 3
44 Garlic Nutraceutical Phase 3
45
Aldesleukin Approved Phase 1, Phase 2 85898-30-2, 110942-02-4
46
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
47
Doxorubicin Approved, Investigational Phase 2 23214-92-8 31703
48
Etoposide Approved Phase 2 33419-42-0 36462
49
rituximab Approved Phase 2 174722-31-7 10201696
50
Vincristine Approved, Investigational Phase 2 2068-78-2, 57-22-7 5978

Interventional clinical trials:

(show all 40)
id Name Status NCT ID Phase
1 Intralesional Steroids in the Treatment of Alopecia Areata Recruiting NCT01898806 Phase 4
2 Safety and Efficacy Study of Bimatoprost to Treat Hypotrichosis of the Eyelashes After Application to the Eyelid Margin Completed NCT00907426 Phase 3
3 Bimatoprost for the Treatment of Eyebrow Hypotrichosis Completed NCT01765764 Phase 3
4 Study of Bimatoprost Gel on Eyelash Growth Completed NCT01200251 Phase 3
5 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
6 Efficacy Study of Minoxidil Lotion Versus Combined Minoxidil and Finasteride Lotion to Treat Male Pattern Hair Loss Completed NCT01391156 Phase 3
7 Enhancing Hair Density With Platelet Rich Fibrin Matrix (PRFM) Completed NCT01590238 Phase 3
8 Sexual Function in Men Receiving Dutasteride for Androgenetic Alopecia Completed NCT02014584 Phase 3
9 A Trial of Clobetasol Propionate Versus Hydrocortisone in Children With Alopecia Areata Completed NCT01453686 Phase 3
10 The Efficiency Of The Methotrexate At Patients Affected By Grave Pelade Recruiting NCT02037191 Phase 3
11 Topical Garlic Concentrate for Alopecia Areata in Children Recruiting NCT02691117 Phase 3
12 Evaluation of the Efficacy and Tolerability of Treatment With Interleukin-2 in Severe and Resistant Alopecia Areata Unknown status NCT01840046 Phase 1, Phase 2
13 Safety and Efficacy of Hair Stimulating Complex (HSC) on Hair Growth in Males With Androgenetic Alopecia Unknown status NCT01501617 Phase 1, Phase 2
14 A Safety and Efficacy Study of Bimatoprost in Men With Androgenic Alopecia (AGA) Completed NCT01904721 Phase 2
15 Safety and Efficacy Study of Human Autologous Hair Follicle Cells to Treat Androgenetic Alopecia Completed NCT01286649 Phase 1, Phase 2
16 Pilot Study to Evaluate the Efficacy of Ruxolitinib in Alopecia Areata Completed NCT01950780 Phase 2
17 A Study to Evaluate the Superiority, Efficacy and Tolerability of Combination Pantovigar With 2% Minoxidil vs 2% Minoxidil in Women With Female Pattern Hair Loss Completed NCT01900041 Phase 2
18 Safety and Efficacy Study of Bimatoprost in the Treatment of Women With Female Pattern Hair Loss Completed NCT01325350 Phase 2
19 Safety and Efficacy Study of Bimatoprost in the Treatment of Men With Androgenic Alopecia Completed NCT01325337 Phase 2
20 Treatment and Natural History Study of Lymphomatoid Granulomatosis Recruiting NCT00001379 Phase 2
21 An Open-Label Single-Arm Clinical Trial to Evaluate The Efficacy of Abatacept in Moderate to Severe Patch Type Alopecia Areata Active, not recruiting NCT02018042 Phase 2
22 Study To Evaluate The Efficacy Of Tofacitinib In Moderate To Severe Alopecia Areata, Totalis And Universalis Active, not recruiting NCT02299297 Phase 2
23 Topical Tofacitinib for the Treatment of Alopecia Areata and Its Variants Active, not recruiting NCT02812342 Phase 2
24 Efficacy of Nutrition Supplement for Treatment of Men With Hair Loss Active, not recruiting NCT02150187 Phase 2
25 Abatacept Costimulatory Blockade in the Treatment of Alopecia Totalis/Universalis Withdrawn NCT01314495 Phase 2
26 A Clinical Trial to Evaluate the Efficacy of Abatacept in Moderate to Severe Alopecia Areata Withdrawn NCT01917058 Phase 2
27 Plasma Rich in Growth Factors (PRGF-Endoret)in the Treatment of Androgenetic Alopecia Unknown status NCT01885676
28 Study to Assess the Efficacy of Intralesional Corticosteroid on the Treatment of Frontal Fibrosing Alopecia Unknown status NCT02467101
29 Study to Assess Efficacy of Platelet-Rich Plasma in Androgenetic Alopecia Unknown status NCT02393040
30 Effect of Pumpkin Seed Oil on Hair Growth in Men With Androgenetic Alopecia Completed NCT01852487
31 Effect of Follicular Phase Acupuncture on Anti-Mullerian Hormone in Polycystic Ovary Syndrome (PCOS) Patients Undergoing IVF And The Effect on Assisted Reproduction Outcome Completed NCT01778621
32 The Efficacy and Safety of Different Concentrations of Localized Injections of Steroids in the Treatment of Alopecia Areata Completed NCT01246284
33 Treatment of Alopecia Areata of the Scalp With Intradermal Injections of Botulinum Toxin Completed NCT00408798
34 Efficacy Study of a Cosmetic Lotion in the Treatment of Androgenetic Alopecia in Males and Females Completed NCT01701271
35 Efficacy Study of a Cosmetic Lotion in the Treatment of Alopecia Areata in Males and Females Recruiting NCT02604888
36 Point-of-Care Adipose-derived Cells for Hair Growth Recruiting NCT02729415 Early Phase 1
37 A 6-month Post-interventional Follow-up Extension of VOLUME Study (VOLUME-2) Active, not recruiting NCT02986412
38 EValuation of the Impact of a TOpical Lotion on Permanent Chemotherapy Induced Hair Disorders in Cancer Survivors Active, not recruiting NCT02605629
39 Childhood Alopecia Areata Study Using the 308-nm Excimer Laser Withdrawn NCT01736007
40 Bimatoprost Ophthalmic Solution in Increasing Eyebrow and Eyelash Growth in Patients Who Have Undergone Chemotherapy for Breast Cancer and in Healthy Participants Withdrawn NCT00999557

Search NIH Clinical Center for Hypotrichosis 6

Genetic Tests for Hypotrichosis 6

Genetic tests related to Hypotrichosis 6:

id Genetic test Affiliating Genes
1 Hypotrichosis 6 29 24 DSG4

Anatomical Context for Hypotrichosis 6

MalaCards organs/tissues related to Hypotrichosis 6:

39
Skin

Publications for Hypotrichosis 6

Variations for Hypotrichosis 6

ClinVar genetic disease variations for Hypotrichosis 6:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 DSG4 DSG4, EX5-8DEL deletion Pathogenic
2 DSG4 DSG4, 1-BP DEL, 87G deletion Pathogenic
3 DSG4 NM_177986.4(DSG4): c.574T> C (p.Ser192Pro) single nucleotide variant Pathogenic rs267606775 GRCh37 Chromosome 18, 28970675: 28970675
4 DSG4 NM_177986.4(DSG4): c.2038dupT (p.Ser680Phefs) duplication Pathogenic rs786200875 GRCh38 Chromosome 18, 31409556: 31409556
5 DSG4 DSG4, IVS3, G-T, +1 single nucleotide variant Pathogenic
6 DSG4 NM_177986.4(DSG4): c.800C> G (p.Pro267Arg) single nucleotide variant Pathogenic rs267606776 GRCh37 Chromosome 18, 28971156: 28971156
7 DSG4 DSG4, 1-BP DEL, 763T deletion Pathogenic
8 DSG4 NM_177986.4(DSG4): c.865C> T (p.Arg289Ter) single nucleotide variant Pathogenic rs267606777 GRCh37 Chromosome 18, 28972163: 28972163

Expression for Hypotrichosis 6

Search GEO for disease gene expression data for Hypotrichosis 6.

Pathways for Hypotrichosis 6

GO Terms for Hypotrichosis 6

Cellular components related to Hypotrichosis 6 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 8.8 CYP2C18 LPAR6 SNCA

Biological processes related to Hypotrichosis 6 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 8.96 DSG4 KRT74
2 cornification GO:0070268 8.62 DSG4 KRT74

Sources for Hypotrichosis 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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