Aliases & Classifications for Hypertrichosis

MalaCards integrated aliases for Hypertrichosis:

Name: Hypertrichosis 12 29 42 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:420
ICD10 33 L68 L68.3 L68.9
MeSH 42 D006983
NCIt 47 C79597
UMLS 69 C0020555

Summaries for Hypertrichosis

Disease Ontology : 12 A hair disease characterized by hair growth that is abnormal in quantity or location.

MalaCards based summary : Hypertrichosis is related to hypertrichosis, congenital generalized, with or without gingival hyperplasia and hypertrichosis lanuginosa congenita. An important gene associated with Hypertrichosis is ARID1B (AT-Rich Interaction Domain 1B), and among its related pathways/superpathways are Chromatin organization and Chromatin Regulation / Acetylation. The drugs Drospirenone and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include skin, ovary and kidney, and related phenotypes are Increased Nanog expression and cellular

Wikipedia : 72 Hypertrichosis (also called Ambras syndrome) is an abnormal amount of hair growth over the body. The two... more...

Related Diseases for Hypertrichosis

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

(show top 50) (show all 157)
id Related Disease Score Top Affiliating Genes
1 hypertrichosis, congenital generalized, with or without gingival hyperplasia 12.3
2 hypertrichosis lanuginosa congenita 12.2
3 hypertrichosis lanuginosa, acquired 12.1
4 isolated anterior cervical hypertrichosis 12.1
5 x-linked congenital generalized hypertrichosis 12.1
6 hypertrichosis universalis congenita, ambras type 12.1
7 cervical hypertrichosis peripheral neuropathy 12.0
8 hypertrichosis, anterior cervical 11.9
9 hypertrichosis universalis congenita 11.8
10 hypertrichosis, congenital generalized 11.8
11 acromegaloid hypertrichosis syndrome 11.8
12 barber-say syndrome 11.8
13 amaurosis congenita, cone-rod type, with congenital hypertrichosis 11.8
14 hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy 11.7
15 histiocytosis-lymphadenopathy plus syndrome 11.7
16 hypertrichosis of eyelid 11.7
17 hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features 11.7
18 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome 11.7
19 gorlin-chaudhry-moss syndrome 11.6
20 hairy elbows 11.6
21 wiedemann-steiner syndrome 11.5
22 hypertrichotic osteochondrodysplasia 11.5
23 trichomegaly 11.0
24 congenital smooth muscle hamartoma 11.0
25 hypertrichotic osteochondrodysplasia cantu type 10.9
26 coffin-siris syndrome 1 10.8
27 stiff skin syndrome 10.8
28 cahmr syndrome 10.7
29 ramon syndrome 10.7
30 muller barth menger syndrome 10.7
31 schaap taylor baraitser syndrome 10.7
32 coffin-siris syndrome 2 10.6
33 porphyria variegata 10.6
34 zimmermann-laband syndrome 1 10.6
35 spastic paraplegia 53, autosomal recessive 10.6
36 cornelia de lange syndrome 3 10.6
37 porphyria, congenital erythropoietic 10.6
38 multicentric osteolysis, nodulosis, and arthropathy 10.6
39 coffin-siris syndrome 5 10.6
40 coffin-siris syndrome 4 10.6
41 coffin-siris syndrome 3 10.6
42 acromegaloid facial appearance syndrome 10.6
43 dysosteosclerosis 10.6
44 hyperostosis frontalis interna 10.6
45 nuclear gene-encoded leigh syndrome 10.6
46 fetal minoxidil syndrome 10.6
47 giant congenital nevus 10.6
48 hairy palms and soles 10.6
49 schinzel giedion syndrome 10.6
50 sed congenita 10.6 ABCC9 KCNJ8

Graphical network of the top 20 diseases related to Hypertrichosis:



Diseases related to Hypertrichosis

Symptoms & Phenotypes for Hypertrichosis

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

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 9.17 SMARCB1 SMARCE1 ARID1A SMARCA4
2 Increased Nanog expression GR00371-A-2 9.17 SMARCE1
3 Increased Nanog expression GR00371-A-3 9.17 ARID1A
4 Increased Nanog expression GR00371-A-5 9.17 ARID1A

MGI Mouse Phenotypes related to Hypertrichosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.22 ABCC9 ARID1A ASXL1 EXT1 KMT2A SLC29A3
2 homeostasis/metabolism MP:0005376 10.15 KMT2A SMARCA4 SMARCB1 SOX3 SURF1 TRPS1
3 growth/size/body region MP:0005378 10.14 TRPS1 TWIST2 ABCC9 ARID1A ASXL1 EXT1
4 craniofacial MP:0005382 10.06 ARID1A ASXL1 EXT1 KMT2A SMARCA4 SOX3
5 immune system MP:0005387 10.06 TRPS1 TWIST2 ARID1A ARID1B ASXL1 KCNJ8
6 mortality/aging MP:0010768 10.03 KCNJ8 KMT2A SLC29A3 SMARCA4 SMARCB1 SMARCE1
7 embryo MP:0005380 9.98 ARID1A EXT1 KMT2A SMARCA4 SMARCB1 SOX3
8 liver/biliary system MP:0005370 9.73 ASXL1 KMT2A SMARCA4 SMARCB1 TWIST2 UROD
9 neoplasm MP:0002006 9.5 ARID1A ASXL1 EXT1 KMT2A SLC29A3 SMARCA4
10 skeleton MP:0005390 9.23 ARID1A ASXL1 EXT1 KMT2A SMARCA4 SOX3

Drugs & Therapeutics for Hypertrichosis

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

(show all 46)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Drospirenone Approved Phase 4 67392-87-4 68873
2
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
3
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
4
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
5
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492
6
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
7
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
8 insulin Phase 4,Early Phase 1
9 Insulin, Globin Zinc Phase 4,Early Phase 1
10 Contraceptive Agents Phase 4
11 diuretics Phase 4
12 Diuretics, Potassium Sparing Phase 4
13 Drospirenone and ethinyl estradiol combination Phase 4
14 Estradiol 17 beta-cypionate Phase 4
15 Estradiol 3-benzoate Phase 4
16 Estradiol valerate Phase 4 979-32-8
17 Estrogens Phase 4
18 Hormone Antagonists Phase 4
19 Hormones Phase 4
20 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
21 Micronutrients Phase 4
22 Mineralocorticoid Receptor Antagonists Phase 4
23 Mineralocorticoids Phase 4
24 Natriuretic Agents Phase 4
25 Polyestradiol phosphate Phase 4
26 Trace Elements Phase 4
27 Vitamin B Complex Phase 4
28 Vitamins Phase 4
29 Antifungal Agents Phase 4
30 Anti-Infective Agents Phase 4
31 Antirheumatic Agents Phase 4
32 Calcineurin Inhibitors Phase 4
33 Cyclosporins Phase 4
34 Dermatologic Agents Phase 4
35 Immunosuppressive Agents Phase 4
36 Antihypertensive Agents Phase 4,Phase 3
37 Pharmaceutical Solutions Phase 4,Phase 3,Phase 1,Phase 2
38 Folate Nutraceutical Phase 4
39
Inositol Investigational, Nutraceutical Phase 4 87-89-8
40 Vitamin B9 Nutraceutical Phase 4
41
Minoxidil Approved Phase 3 38304-91-5 4201
42 Vasodilator Agents Phase 3
43
Zinc Approved Early Phase 1 7440-66-6 32051 23994
44
Chlorhexidine Approved, Vet_approved 55-56-1 9552079 2713
45 Hypoglycemic Agents Early Phase 1
46 Chlorhexidine gluconate

Interventional clinical trials:

(show all 18)

id Name Status NCT ID Phase Drugs
1 Pilot Study of a Novel IPL for Removal of Unwanted Fine Body Hair Completed NCT01912950 Phase 4
2 Clinical, Metabolic and Endocrine Effects of the Treatment With Drospirenone and Ethinyl Estradiol Alone or in Combination With Myo-inositol in Young Women With Polycystic Ovary Syndrome (PCOS) and Insulin Resistance Completed NCT01511822 Phase 4 Drospirenone Ethinyl estradiol;Drospirenone Ethinyl estradiol Myo-inositol;placebo
3 Efficacy and Safety Study of the Switch From Cyclosporin to Tacrolimus in Renal Transplant Recipients Completed NCT02706678 Phase 4 Tacrolimus sustained-release capsule
4 Topical Bimatoprost Solution 0.03%in Stable Vitiligo Withdrawn NCT01202513 Phase 4 Bimatoprost 0.03% topical ophthalmic solution
5 Comparison of Efficacy, Safety and Tolerability of Two Different 810 nm Diode Lasers for Hair Reduction Completed NCT01212172 Phase 3
6 Efficacy and Safety Study to Compare Two Minoxidil Formulations on Women With Androgenetic Alopecia Completed NCT00958750 Phase 3 minoxidil
7 Photodynamic Therapy for Permanent Hair Removal Unknown status NCT00371930 Phase 1, Phase 2
8 Investigation of FOL-005 on Clinical Safety and Effect on Hair Growth Completed NCT02793557 Phase 1, Phase 2 FOL-005
9 Optical Clearing of the Skin in Conjunction With Laser Treatments Completed NCT00580736 Phase 1
10 Enhanced Safety Laser Hair Removal System Unknown status NCT00441948
11 Enhanced Safety Aesthetic Laser System Unknown status NCT00495443
12 Insulin Differences Between African-American and Caucasian Female Adolescents With Polycystic Ovary Syndrome (PCOS) Unknown status NCT02052479 Early Phase 1
13 Eyelash Growth From Application of Bimatoprost in Gel Suspension to the Base of the Eyelashes Completed NCT00773136 Bimatoprost Suspension
14 Study of Immunosuppressive Therapy Toxicities in Kidney Transplant Recipients at Regional or Satellite Community Clinics Completed NCT00902980
15 Development of a Structured Education Programme for Women With Polycystic Ovary Syndrome Completed NCT01462864
16 Efficacy Evaluation of the Activity of a Cosmetic Product (Topical Use) on Hair Regrowth vs Placebo Active, not recruiting NCT03273504
17 Combined 755nm Alexandrite Laser With Bipolar RF for Hair Reduction Active, not recruiting NCT02465788
18 A Prospective Multi-Center Study of a Novel Dual-Wavelength Laser for Hair Removal Terminated NCT02536092

Search NIH Clinical Center for Hypertrichosis

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: hypertrichosis

Genetic Tests for Hypertrichosis

Genetic tests related to Hypertrichosis:

id Genetic test Affiliating Genes
1 Hypertrichosis 29

Anatomical Context for Hypertrichosis

MalaCards organs/tissues related to Hypertrichosis:

39
Skin, Ovary, Kidney, Pituitary, Brain, Tongue, Colon

Publications for Hypertrichosis

Articles related to Hypertrichosis:

(show top 50) (show all 463)
id Title Authors Year
1
Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness. ( 28317252 )
2017
2
Congenital hypertrichosis lanuginosa. ( 28566560 )
2017
3
Gingival fibromatosis with hypertrichosis syndrome: Case series of rare syndrome. ( 28836540 )
2017
4
Hypertrichosis lanuginosa acquisita associated with intracranial melanoma: case illustration. ( 28707995 )
2017
5
First Japanese case of congenital generalized hypertrichosis with a copy number variation on chromosome 17q24. ( 27780627 )
2017
6
Minoxidil-Induced Hypertrichosis in a Child with Alopecia Areata. ( 28405563 )
2017
7
Nevoid Hypertrichosis in a Pre-Adolescent Girl. ( 28405561 )
2017
8
The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B. ( 28323383 )
2017
9
Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes. ( 28086997 )
2017
10
FOXN1 Duplication and Congenital Hypertrichosis. ( 28297140 )
2017
11
Isolated Anterior Cervical Hypertrichosis. ( 27979307 )
2016
12
Anterior cervical hypertrichosis: a sporadic case. ( 27103865 )
2016
13
Superficial Epidermolytic Ichthyosis-Hypertrichosis as a Clue to Diagnosis. ( 27601192 )
2016
14
Hypertrichosis cubiti, a case report and literature review. ( 26862409 )
2016
15
Postcast hypertrichosis in a patient with frontal fibrosing alopecia. ( 27306714 )
2016
16
Genomic analysis of gum disease and hypertrichosis in foxes. ( 27323055 )
2016
17
Acquired Localized Hypertrichosis Induced by Rivastigmine. ( 27073702 )
2016
18
A case of hypertrichosis lanuginosa acquisita as a sign of malignancy. ( 27748263 )
2016
19
Minoxidil-induced hypertrichosis in a 4-year-old child. ( 27088933 )
2016
20
Acquired ectopic hypertrichosis of the tongue. ( 27088954 )
2016
21
Localized Hypertrichosis Following Vaccination in an Infant. ( 27601863 )
2016
22
An unusual case of hypertrichosis. ( 27727659 )
2016
23
Acquired ectopic hypertrichosis of the tongue. ( 26765128 )
2016
24
Infantile generalized hypertrichosis caused by topical minoxidil. ( 26982785 )
2016
25
Minoxidil-induced hypertrichosis in a 4-year-old child. ( 26858049 )
2016
26
Neonatal Cutis Laxa and Hypertrichosis Lanuginosa in Sotos Syndrome. ( 27601358 )
2016
27
Dermatologic Marvels-Hypertrichosis. ( 27168211 )
2016
28
The Hypertrichosis of Esau. ( 27168214 )
2016
29
De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder. ( 26871653 )
2016
30
Afatinib-induced hypertrichosis of the eyelashes and eyebrows. ( 26585846 )
2016
31
Dermoscopic findings of piloleiomyoma with hypertrichosis. ( 26067342 )
2015
32
Acquired localised hypertrichosis in a Chinese child after cast immobilisation. ( 26238136 )
2015
33
Fibrous Hamartoma of Infancy: A Firm Plaque Presenting with Hypertrichosis and Hyperhidrosis. ( 25660371 )
2015
34
Iris heterochromia and unilateral eyelash hypertrichosis. ( 25988467 )
2015
35
Intellectual Disability: When the Hypertrichosis Is a Clue. ( 27617126 )
2015
36
Generalized Hypertrichosis Due to Topical Minoxidil. ( 25688008 )
2015
37
Congenital generalized hypertrichosis terminalis: a proposed classification and a plea to avoid the ambiguous term "Ambras syndrome". ( 25961852 )
2015
38
Localized hypertrichosis after infectious rash in adults. ( 27051699 )
2015
39
Hypertrichosis lanuginosa acquisita: a rare dermatological disorder. ( 26364545 )
2015
40
Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes. ( 26242548 )
2015
41
Acquired Hypertrichosis Lanuginosa: Typical Presentation and Unusual Association. ( 26161711 )
2015
42
Temporary henna tattoos and hypertrichosis: a case report and review of the literature. ( 26236410 )
2015
43
Progressive Symmetric Erythrokeratoderma Having Overlapping Features With Erythrokeratoderma Variabilis and Lesional Hypertrichosis: Is Nomenclature "Erythrokeratoderma Variabilis Progressiva" More Appropriate? ( 26288417 )
2015
44
The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis. ( 25782671 )
2015
45
Generalized Hypertrichosis Induced by Topical Minoxidil in an Adult Woman. ( 26903750 )
2015
46
Hypertrichosis pinnae auris may enhance the hearing power of an individual. ( 25817169 )
2015
47
Congenital Generalized Hypertrichosis, Gingival Hyperplasia, a Coarse Facies with Constriction Bands: A Rare Association. ( 26180451 )
2015
48
Malignant Down: Hypertrichosis Lanuginosa Acquisita Associated With Endometrial Adenocarcinoma. ( 25882714 )
2015
49
Topical sulfonylurea as a novel therapy for hypertrichosis secondary to diazoxide, and potentially for other conditions with excess hair growth. ( 26392140 )
2015
50
H Syndrome: A Multifaceted Histiocytic Disorder with Hyperpigmentation and Hypertrichosis. ( 26015165 )
2015

Variations for Hypertrichosis

ClinVar genetic disease variations for Hypertrichosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ASXL1 NM_015338.5(ASXL1): c.1210C> T (p.Arg404Ter) single nucleotide variant Pathogenic rs373145711 GRCh37 Chromosome 20, 31021211: 31021211
2 ARID1B NM_020732.3(ARID1B): c.1612C> T (p.Gln538Ter) single nucleotide variant Pathogenic rs1057518951 GRCh37 Chromosome 6, 157150430: 157150430

Expression for Hypertrichosis

Search GEO for disease gene expression data for Hypertrichosis.

Pathways for Hypertrichosis

GO Terms for Hypertrichosis

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

id Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.8 ARID1A ASXL1 SMARCA4 SMARCB1 SMARCE1 TRPS1
2 BAF-type complex GO:0090544 9.56 ARID1A ARID1B SMARCB1 SMARCE1
3 npBAF complex GO:0071564 9.46 ARID1A SMARCA4 SMARCB1 SMARCE1
4 ATP-sensitive potassium channel complex GO:0008282 9.4 ABCC9 KCNJ8
5 SWI/SNF complex GO:0016514 9.35 ARID1A ARID1B SMARCA4 SMARCB1 SMARCE1
6 nBAF complex GO:0071565 9.02 ARID1A ARID1B SMARCA4 SMARCB1 SMARCE1
7 nucleoplasm GO:0005654 10.11 ARID1A ARID1B ASXL1 KMT2A SMARCA4 SMARCB1

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.88 ARID1A ARID1B SMARCA4 SMARCB1 SMARCE1
2 chromatin remodeling GO:0006338 9.65 ARID1A ARID1B SMARCA4 SMARCB1 SMARCE1
3 potassium ion import GO:0010107 9.51 ABCC9 KCNJ8
4 positive regulation by host of viral transcription GO:0043923 9.49 SMARCA4 SMARCB1
5 ATP-dependent chromatin remodeling GO:0043044 9.46 ARID1A SMARCA4 SMARCB1 SMARCE1
6 chromatin-mediated maintenance of transcription GO:0048096 9.43 ARID1A ARID1B
7 positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter GO:1901838 9.4 SMARCA4 SMARCB1
8 positive regulation of glucose mediated signaling pathway GO:1902661 9.32 SMARCA4 SMARCB1
9 nucleosome disassembly GO:0006337 9.26 ARID1A SMARCA4 SMARCB1 SMARCE1
10 covalent chromatin modification GO:0016569 9.17 ARID1A ARID1B ASXL1 KMT2A SMARCA4 SMARCB1
11 regulation of transcription, DNA-templated GO:0006355 10.11 ARID1A ARID1B ASXL1 KMT2A SMARCA4 SMARCB1
12 transcription, DNA-templated GO:0006351 10.02 ARID1A ARID1B ASXL1 KMT2A SMARCA4 SMARCB1

Molecular functions related to Hypertrichosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.81 ARID1A ARID1B ASXL1 KMT2A SMARCB1 SMARCE1
2 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 9.5 SMARCA4 SMARCB1 SMARCE1
3 ligand-dependent nuclear receptor binding GO:0016922 9.43 ARID1A SMARCE1
4 lysine-acetylated histone binding GO:0070577 9.4 KMT2A SMARCA4
5 Tat protein binding GO:0030957 9.37 SMARCA4 SMARCB1
6 RNA polymerase I CORE element sequence-specific DNA binding GO:0001164 9.26 SMARCA4 SMARCB1
7 nucleosomal DNA binding GO:0031492 9.13 SMARCA4 SMARCB1 SMARCE1
8 transcription coactivator activity GO:0003713 9.1 ARID1A ARID1B ASXL1 SMARCA4 SMARCB1 SMARCE1

Sources for Hypertrichosis

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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