Aliases & Classifications for Hypertrichosis

Aliases & Descriptions 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 terminalis, generalized, with or without gingival hyperplasia and hypertrichosis lanuginosa congenita. An important gene associated with Hypertrichosis is SLC29A3 (Solute Carrier Family 29 Member 3), and among its related pathways/superpathways are Antiarrhythmic Pathway, Pharmacodynamics and CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF). The drugs Drospirenone and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include skin, pituitary and brain, and related phenotype is mortality/aging.

Wikipedia : 71 Hypertrichosis (also called Ambras syndrome) is an abnormal amount of hair growth over the body;... more...

Related Diseases for Hypertrichosis

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

(show top 50) (show all 149)
id Related Disease Score Top Affiliating Genes
1 hypertrichosis terminalis, generalized, with or without gingival hyperplasia 12.3
2 hypertrichosis lanuginosa congenita 12.2
3 hypertrichosis universalis congenita, ambras type 12.2
4 x-linked congenital generalized hypertrichosis 12.1
5 hypertrichosis lanuginosa, acquired 12.0
6 hypertrichosis, anterior cervical 11.9
7 isolated anterior cervical hypertrichosis 11.9
8 hypertrichosis universalis congenita 11.9
9 acromegaloid hypertrichosis syndrome 11.8
10 barber-say syndrome 11.8
11 amaurosis congenita, cone-rod type, with congenital hypertrichosis 11.8
12 hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy 11.7
13 cervical hypertrichosis peripheral neuropathy 11.7
14 histiocytosis-lymphadenopathy plus syndrome 11.7
15 hypertrichosis of eyelid 11.7
16 hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features 11.7
17 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome 11.7
18 hairy elbows 11.6
19 gorlin-chaudhry-moss syndrome 11.5
20 wiedemann-steiner syndrome 11.5
21 hypertrichotic osteochondrodysplasia 11.5
22 trichomegaly 11.0
23 congenital smooth muscle hamartoma 11.0
24 coffin-siris syndrome 10.8
25 stiff skin syndrome 10.8
26 cahmr syndrome 10.7
27 ramon syndrome 10.7
28 muller barth menger syndrome 10.7
29 schaap taylor baraitser syndrome 10.7
30 mental retardation, autosomal dominant 14 10.7
31 porphyria variegata 10.7
32 spastic paraplegia 53, autosomal recessive 10.7
33 porphyria, congenital erythropoietic 10.7
34 multicentric osteolysis, nodulosis, and arthropathy 10.7
35 mental retardation, autosomal dominant 16 10.7
36 mental retardation, autosomal dominant 15 10.7
37 hypertrichotic osteochondrodysplasia cantu type 10.7
38 nuclear gene-encoded leigh syndrome 10.7
39 fetal minoxidil syndrome 10.7
40 giant congenital nevus 10.7
41 hairy palms and soles 10.7
42 morgagni-stewart-morel syndrome 10.7
43 schinzel giedion syndrome 10.7
44 coffin-siris syndrome 5 10.7
45 gingivitis 10.2
46 immunodeficiency due to defect in cd3-gamma 10.1 HTC2 SOX3
47 x-linked mental retardation craniofacial abnormal microcephaly club 10.1 FGF13 HTC2
48 noonan syndrome 3 10.1 ABCC9 KCNJ8
49 ciliary dyskinesia, primary, 28 10.1 HTC2 SOX3
50 epidermolysis bullosa simplex, koebner type 10.1 ABCC9 KCNJ8

Graphical network of the top 20 diseases related to Hypertrichosis:



Diseases related to Hypertrichosis

Symptoms & Phenotypes for Hypertrichosis

MGI Mouse Phenotypes related to Hypertrichosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.32 SOX3 SURF1 TRPS1 UROD ABCC9 FGF13

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 53477783
3
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
4
Cyclosporine Approved, Investigational, Vet_approved Phase 4 79217-60-0, 59865-13-3 5284373 6435893
5
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
6
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492
7
Bimatoprost Approved, Investigational Phase 4 155206-00-1 5311027
8
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
9 insulin Phase 4,Early Phase 1
10 Insulin, Globin Zinc Phase 4,Early Phase 1
11 Contraceptive Agents Phase 4
12 diuretics Phase 4
13 Diuretics, Potassium Sparing Phase 4
14 Drospirenone and ethinyl estradiol combination Phase 4
15 Estradiol 17 beta-cypionate Phase 4
16 Estradiol 3-benzoate Phase 4
17 Estradiol valerate Phase 4 979-32-8
18 Estrogens Phase 4
19 Hormone Antagonists Phase 4
20 Hormones Phase 4
21 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
22 Micronutrients Phase 4
23 Mineralocorticoid Receptor Antagonists Phase 4
24 Mineralocorticoids Phase 4
25 Natriuretic Agents Phase 4
26 Polyestradiol phosphate Phase 4
27 Trace Elements Phase 4
28 Vitamin B Complex Phase 4
29 Vitamins Phase 4
30 Antifungal Agents Phase 4
31 Anti-Infective Agents Phase 4
32 Antirheumatic Agents Phase 4
33 Calcineurin Inhibitors 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 Nutraceutical Phase 4
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 17)
id Name Status NCT ID Phase
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
3 Efficacy and Safety Study of the Switch From Cyclosporin to Tacrolimus in Renal Transplant Recipients Completed NCT02706678 Phase 4
4 Topical Bimatoprost Solution 0.03%in Stable Vitiligo Withdrawn NCT01202513 Phase 4
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
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 Recruiting NCT02793557 Phase 1, Phase 2
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
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 Combined 755nm Alexandrite Laser With Bipolar RF for Hair Reduction Active, not recruiting NCT02465788
17 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, Pituitary, Brain, Kidney, Colon, Tongue, Ovary

Publications for Hypertrichosis

Articles related to Hypertrichosis:

(show top 50) (show all 455)
id Title Authors Year
1
Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness. ( 28317252 )
2017
2
First Japanese case of congenital generalized hypertrichosis with a copy number variation on chromosome 17q24. ( 27780627 )
2017
3
Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes. ( 28086997 )
2017
4
A case of hypertrichosis lanuginosa acquisita as a sign of malignancy. ( 27748263 )
2016
5
Postcast hypertrichosis in a patient with frontal fibrosing alopecia. ( 27306714 )
2016
6
Hypertrichosis cubiti, a case report and literature review. ( 26862409 )
2016
7
Acquired ectopic hypertrichosis of the tongue. ( 26765128 )
2016
8
Superficial Epidermolytic Ichthyosis-Hypertrichosis as a Clue to Diagnosis. ( 27601192 )
2016
9
Anterior cervical hypertrichosis: a sporadic case. ( 27103865 )
2016
10
De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder. ( 26871653 )
2016
11
An unusual case of hypertrichosis. ( 27727659 )
2016
12
Minoxidil-induced hypertrichosis in a 4-year-old child. ( 26858049 )
2016
13
Acquired Localized Hypertrichosis Induced by Rivastigmine. ( 27073702 )
2016
14
Localized Hypertrichosis Following Vaccination in an Infant. ( 27601863 )
2016
15
Genomic analysis of gum disease and hypertrichosis in foxes. ( 27323055 )
2016
16
Neonatal Cutis Laxa and Hypertrichosis Lanuginosa in Sotos Syndrome. ( 27601358 )
2016
17
The Hypertrichosis of Esau. ( 27168214 )
2016
18
Minoxidil-induced hypertrichosis in a 4-year-old child. ( 27088933 )
2016
19
Isolated Anterior Cervical Hypertrichosis. ( 27979307 )
2016
20
Afatinib-induced hypertrichosis of the eyelashes and eyebrows. ( 26585846 )
2016
21
Infantile generalized hypertrichosis caused by topical minoxidil. ( 26982785 )
2016
22
Dermatologic Marvels-Hypertrichosis. ( 27168211 )
2016
23
Acquired ectopic hypertrichosis of the tongue. ( 27088954 )
2016
24
Generalized Hypertrichosis Due to Topical Minoxidil. ( 25688008 )
2015
25
Endocrinology and art. Hypertrichosis and dwarfism in a painting of Agostino Carracci (1598-1600). ( 25971690 )
2015
26
Temporary henna tattoos and hypertrichosis: a case report and review of the literature. ( 26236410 )
2015
27
Acquired localised hypertrichosis in a Chinese child after cast immobilisation. ( 26238136 )
2015
28
Malignant Down: Hypertrichosis Lanuginosa Acquisita Associated With Endometrial Adenocarcinoma. ( 25882714 )
2015
29
Iris heterochromia and unilateral eyelash hypertrichosis. ( 25988467 )
2015
30
H Syndrome: A Multifaceted Histiocytic Disorder with Hyperpigmentation and Hypertrichosis. ( 26015165 )
2015
31
Topical sulfonylurea as a novel therapy for hypertrichosis secondary to diazoxide, and potentially for other conditions with excess hair growth. ( 26392140 )
2015
32
Hypertrichosis lanuginosa acquisita: a rare dermatological disorder. ( 26364545 )
2015
33
Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes. ( 26242548 )
2015
34
Hypertrichosis and Hyperpigmentation in the Periocular Area Associated with Travoprost Treatment. ( 26512190 )
2015
35
Localized hypertrichosis after infectious rash in adults. ( 27051699 )
2015
36
Fibrous Hamartoma of Infancy: A Firm Plaque Presenting with Hypertrichosis and Hyperhidrosis. ( 25660371 )
2015
37
Dermoscopic findings of piloleiomyoma with hypertrichosis. ( 26067342 )
2015
38
Acquired Hypertrichosis Lanuginosa: Typical Presentation and Unusual Association. ( 26161711 )
2015
39
Congenital generalized hypertrichosis terminalis: a proposed classification and a plea to avoid the ambiguous term "Ambras syndrome". ( 25961852 )
2015
40
De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features. ( 26033841 )
2015
41
Hypertrichosis pinnae auris may enhance the hearing power of an individual. ( 25817169 )
2015
42
Progressive Symmetric Erythrokeratoderma Having Overlapping Features With Erythrokeratoderma Variabilis and Lesional Hypertrichosis: Is Nomenclature "Erythrokeratoderma Variabilis Progressiva" More Appropriate? ( 26288417 )
2015
43
The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis. ( 25782671 )
2015
44
Congenital hypertrichosis universalis in Mexican female twins. ( 26518157 )
2015
45
Generalized Hypertrichosis Induced by Topical Minoxidil in an Adult Woman. ( 26903750 )
2015
46
Congenital Generalized Hypertrichosis, Gingival Hyperplasia, a Coarse Facies with Constriction Bands: A Rare Association. ( 26180451 )
2015
47
Intellectual Disability: When the Hypertrichosis Is a Clue. ( 27617126 )
2015
48
Hypertrichosis of the malar areas and poliosis of the eyelashes caused by latanoprost. ( 25065768 )
2014
49
Late onset epidermal nevus with hypertrichosis and facial hemihypertrophy. ( 24700959 )
2014
50
Postradiation hypertrichosis: a paradox. ( 24762514 )
2014

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

Pathways related to Hypertrichosis according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.7 ABCC9 KCNJ8
2 10.17 ABCC9 KCNJ8

GO Terms for Hypertrichosis

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

id Name GO ID Score Top Affiliating Genes
1 SWI/SNF complex GO:0016514 9.26 ARID1B SMARCE1
2 BAF-type complex GO:0090544 9.16 ARID1B SMARCE1
3 nBAF complex GO:0071565 8.96 ARID1B SMARCE1
4 ATP-sensitive potassium channel complex GO:0008282 8.62 ABCC9 KCNJ8

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

id Name GO ID Score Top Affiliating Genes
1 covalent chromatin modification GO:0016569 9.13 ARID1B KMT2A SMARCE1
2 potassium ion import GO:0010107 8.62 ABCC9 KCNJ8

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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