MCID: HYP077
MIFTS: 48

Hypertrichosis

Categories: Rare diseases, Skin diseases
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Aliases & Classifications for Hypertrichosis

Summaries for Hypertrichosis

Disease Ontology: 11 A hair disease characterized by hair growth that is abnormal in quantity or location.

MalaCards based summary: Hypertrichosis is related to hypertrichosis universalis congenita, ambras type and wiedemann-steiner syndrome. An important gene associated with Hypertrichosis is ARID1B (AT-Rich Interaction Domain 1B), and among its related pathways/superpathways are Dopamine-DARPP32 Feedback onto cAMP Pathway and Inwardly rectifying K+ channels. The drugs Pharmaceutical Solutions and Bimatoprost have been mentioned in the context of this disorder. Affiliated tissues include skin, smooth muscle and pituitary, and related phenotypes are homeostasis/metabolism and nervous system

Wikipedia: 75 Hypertrichosis is an abnormal amount of hair growth over the body. The two distinct types of... more...

Related Diseases for Hypertrichosis

Diseases in the Hypertrichosis family:

Rare Disorder with Hypertrichosis

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

(show top 50) (show all 463)
# Related Disease Score Top Affiliating Genes
1 hypertrichosis universalis congenita, ambras type 33.1 TRPS1 HTC2
2 wiedemann-steiner syndrome 32.7 KMT2A ARID1B
3 cantu syndrome 32.7 KCNK4 KCNJ8 KCNJ11 KCNH1 ABCC9
4 cornelia de lange syndrome 31.9 TRPS1 KMT2A CREBBP ARID1B
5 zimmermann-laband syndrome 1 31.9 KCNH1 ATP6V1B2
6 zimmermann-laband syndrome 30.6 KCNH1 ATP6V1B2
7 cardiomyopathy, dilated, 1o 30.3 KCNJ8 KCNJ11 ABCC9
8 patent ductus arteriosus 1 30.0 KCNJ8 KCNJ11 ABCC9
9 familial isolated trichomegaly 30.0 SMARCE1 KMT2A CREBBP ARID1B
10 hypertrichosis lanuginosa congenita 11.7
11 hypertrichosis, congenital generalized, with or without gingival hyperplasia 11.7
12 histiocytosis-lymphadenopathy plus syndrome 11.7
13 hypertrichosis lanuginosa, acquired 11.5
14 barber-say syndrome 11.5
15 fontaine progeroid syndrome 11.5
16 hairy elbows 11.5
17 hypertrichosis, anterior cervical 11.5
18 amaurosis congenita, cone-rod type, with congenital hypertrichosis 11.5
19 hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy 11.4
20 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 11.4
21 cahmr syndrome 11.3
22 ramon syndrome 11.3
23 coffin-siris syndrome 1 11.3
24 facial hypertrichosis 11.2
25 schaap taylor baraitser syndrome 11.2
26 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome 11.1
27 cervical hypertrichosis with underlying kyphoscoliosis 11.0
28 cerebral malformation, seizures, hypertrichosis, and overlapping fingers 11.0
29 stiff skin syndrome 11.0
30 coffin-siris syndrome 9 11.0
31 coffin-siris syndrome 8 11.0
32 becker nevus syndrome 11.0
33 schinzel-giedion midface retraction syndrome 11.0
34 eyebrows, duplication of, with stretchable skin and syndactyly 11.0
35 multicentric osteolysis, nodulosis, and arthropathy 11.0
36 hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation 11.0
37 spastic paraplegia 53, autosomal recessive 11.0
38 intellectual developmental disorder with cardiac defects and dysmorphic facies 11.0
39 fetal minoxidil syndrome 11.0
40 spina bifida hypospadias 11.0
41 hairy ears, y-linked 10.9
42 fibromatosis, gingival, with hypertrichosis and mental retardation 10.9
43 trichomegaly 10.9
44 hypertrichosis of eyelid 10.9
45 rare disorder with hypertrichosis 10.9
46 horseshoe kidney-nievergelt/savarirayan mesomelic dysplasia-seizures-hypertrichosis-intellectual disability-pulmonary involvement syndrome 10.9
47 porphyria, congenital erythropoietic 10.8
48 congenital smooth muscle hamartoma 10.8
49 acromegaloid facial appearance syndrome 10.8
50 diastematomyelia 10.8

Graphical network of the top 20 diseases related to Hypertrichosis:



Diseases related to Hypertrichosis

Symptoms & Phenotypes for Hypertrichosis

MGI Mouse Phenotypes related to Hypertrichosis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.17 ABCC9 ARID1B ASXL1 ATP6V1B2 CREBBP KCNJ11
2 nervous system MP:0003631 10.15 ABCC9 ARID1B ATP6V1B2 CREBBP KCNH1 KCNJ11
3 growth/size/body region MP:0005378 10.07 ABCC9 ARID1B ASXL1 ATP6V1B2 CREBBP KCNJ11
4 behavior/neurological MP:0005386 9.97 ABCC9 ARID1B ASXL1 ATP6V1B2 CREBBP KCNH1
5 immune system MP:0005387 9.7 ABCC9 ARID1B ASXL1 ATP6V1B2 CREBBP KCNJ8
6 mortality/aging MP:0010768 9.47 ABCC9 ARID1B ASXL1 ATP6V1B2 CREBBP KCNJ11

Drugs & Therapeutics for Hypertrichosis

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 1, Phase 2
2
Bimatoprost Approved, Investigational 155206-00-1 5311027
3
Chlorhexidine Approved, Vet_approved, Withdrawn 55-56-1 2713 9552079
4 Antihypertensive Agents
5 Chlorhexidine gluconate

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Randomized, Controlled, Open-Label Pilot Study of a Novel IPL for Removal of Unwanted Fine Hair Completed NCT01912950 Phase 4
2 Side-by-Side Comparison of 810 nm Diode Laser Technology With Low Fluence-High Repetition Rate vs Low Fluence-Vacuum Assist - A Split - Extremity Efficacy , Safety and Tolerability Study Completed NCT01212172 Phase 3
3 Photodynamic Therapy for Permanent Hair Removal Unknown status NCT00371930 Phase 1, Phase 2
4 A Randomised, Double-blind, Placebo-controlled Trial of FOL-005 to Investigate Clinical Safety and Effect on Hair Growth in Healthy Volunteers Completed NCT02793557 Phase 1, Phase 2 FOL-005
5 Optical Clearing of the Skin in Conjunction With Laser Treatments Completed NCT00580736 Phase 1
6 Peterio™ - an Add-on Device for Enhanced Safety of Aesthetic Laser Treatments. Unknown status NCT00441948
7 Peterio™ - an Add-on Device for Enhanced Safety of Aesthetic Laser Treatments Unknown status NCT00495443
8 LASER HAIR REDUCTION BY COMBINED BIPOLAR RF AND 755 nm LASER ENERGIES Unknown status NCT02465788
9 Efficacy Evaluation of the Activity of a Cosmetic Product (Topical Use) on Hair Regrowth vs Placebo Completed NCT03273504
10 Effect of Bimatoprost (Lumigan) in Gel Suspension Applied to the Eyelashes on Eyelash Growth Completed NCT00773136 Bimatoprost Suspension
11 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 71 / NDF-RT 50 :


Eflornithine
Eflornithine Hydrochloride

Cochrane evidence based reviews: hypertrichosis

Genetic Tests for Hypertrichosis

Genetic tests related to Hypertrichosis:

# Genetic test Affiliating Genes
1 Hypertrichosis 28

Anatomical Context for Hypertrichosis

Organs/tissues related to Hypertrichosis:

MalaCards : Skin, Smooth Muscle, Pituitary, Kidney, Ovary, Adrenal Gland, Liver

Publications for Hypertrichosis

Articles related to Hypertrichosis:

(show top 50) (show all 1867)
# Title Authors PMID Year
1
Morgagni-Stewart-Morell syndrome presenting with neurological symptoms: a case report. 62
36452994 2022
2
A lethal and rare cause of arthrogryposis: Glyt1 encephalopathy. 62
36195292 2022
3
Cells, growth factors and biomaterials used in tissue engineering for hair follicles regeneration. 62
36475027 2022
4
NRAS p.Q61R/K allele load is correlated to different phenotypes of congenital melanocytic naevi. 62
35962610 2022
5
Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants. 62
36434256 2022
6
Crisaborole-induced acquired localized hypertrichosis in a 3-year-old male patient with atopic dermatitis. 62
36318647 2022
7
Management of cutaneous toxicities under amivantamab (anti MET and anti EGFR bispecific antibody) in patients with metastatic non-small cell lung cancer harboring EGFR Exon20ins: towards a proactive, multidisciplinary approach. 62
36198244 2022
8
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy. 62
36420948 2022
9
A severe clinicopathologic phenotype of RAF1 Ser257Leu neomutation in a preterm infant without cardiac anomaly. 62
36333975 2022
10
Lymphedema as first clinical presentation of Cantu Syndrome: reversed phenotyping after identification of gain-of-function variant in ABCC9. 62
36336713 2022
11
Establishment of an induced pluripotent stem cell (iPSC) line SDQLCHi045-A from peripheral blood mononuclear cells of a patient with Coffin-Siris syndrome 1 carrying a mutation in ARID1B gene. 62
36473251 2022
12
Congenital diaphragmatic hernia in Coffin Siris syndrome: Further evidence from two cases. 62
36416235 2022
13
Comparison of oral minoxidil, finasteride, and dutasteride for treating androgenetic alopecia. 62
35920739 2022
14
Prospective Case Series of Clinical Signs and Adrenocorticotrophin (ACTH) Concentrations in Seven Horses Transitioning to Pituitary Pars Intermedia Dysfunction (PPID). 62
36288186 2022
15
Wiedemann-Steiner Syndrome: Case Report and Review of Literature. 62
36291481 2022
16
Functional recovery after reduced pediatric fractures of the forearm with respect to perceived limitations, common post-traumatic symptoms, range of motion, and dexterity: a prospective study. 62
36214289 2022
17
Combination 1550 nm non-ablative fractional resurfacing and laser hair removal for treatment of Becker's nevi in skin types III-VI. 62
36129813 2022
18
There Is a Positive Dose-Dependent Association between Low-Dose Oral Minoxidil and Its Efficacy for Androgenetic Alopecia: Findings from a Systematic Review with Meta-Regression Analyses. 62
36161084 2022
19
What's New in Therapy for Male Androgenetic Alopecia? 62
36169916 2022
20
Hajdu-Cheney Syndrome: A Novel NOTCH2 Mutation in a Spanish Child in Treatment with Vibrotherapy: A Case Report. 62
36079132 2022
21
S2k guideline: Laser therapy of the skin. 62
36098675 2022
22
Atypical comorbidities in a child considered to have type 1 diabetes led to the diagnosis of SLC29A3 spectrum disorder. 62
35284993 2022
23
Management of pituitary pars intermedia dysfunction in practice: A clinical audit. 62
36162625 2022
24
Systemic minoxidil for hair disorders in pediatric patients: a safety and tolerability review. 62
35965281 2022
25
Depilatory laser miniaturizes hair by inducing bystander dermal papilla cell necrosis through thermal diffusion. 62
35289409 2022
26
Bicalutamide improves minoxidil-induced hypertrichosis in female pattern hair loss: A retrospective review of 35 patients. 62
34740752 2022
27
Between a rock and a hard place: management of systemic lupus erythematosus and porphyria cutanea tarda. 62
35362354 2022
28
Pinnae and facial hypertrichosis induced by cetuximab. 62
35821579 2022
29
A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome. 62
35879281 2022
30
Evaluating the Roles of Different Types of Laser Therapy in Becker's Nevus Treatment. 62
35887993 2022
31
Milium cysts on hands; hypertrichosis on face. 62
35994763 2022
32
Comment on "Bicalutamide Improves Minoxidil-Induced Hypertrichosis in Female Pattern Hair Loss: A Retrospective Review of 35 Patients". 62
35304167 2022
33
Reply to: "Comment on: Bicalutamide Improves Minoxidil-Induced Hypertrichosis in Female Pattern Hair Loss: A Retrospective Review of 35 Patients". 62
35304166 2022
34
Safety and efficacy of low-dose diazoxide in small-for-gestational-age infants with hyperinsulinaemic hypoglycaemia. 62
34544689 2022
35
The effect of latanoprost 0.005% solution in the management of scalp alopecia areata, a randomized double-blind placebo-controlled trial. 62
35289043 2022
36
Cantù syndrome: Report of a patient with a novel variant in KCNJ8 and revision of literature. 62
35243770 2022
37
Association between personality traits and experience of adverse periocular reactions to topical prostaglandin analogues. 62
36161860 2022
38
Yellowish nodule with hypertrichosis on the upper lip. 62
35616219 2022
39
Case report of H-syndrome with a review from a rheumatological perspective. 62
35732361 2022
40
Growth hormone deficiency in a boy with Wiedemann-Steiner syndrome: A case report and review. 62
35798298 2022
41
Hair and Nail Conditions: Hypertrichosis and Hirsutism. 62
35679469 2022
42
De Novo SMARCC2 Variant in a Chinese Woman with Coffin-Siris Syndrome 8: a Case Report with Mild Intellectual Disability and Endocrinopathy. 62
35536477 2022
43
Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene; The First-year Results. 62
35735786 2022
44
Wiedemann-Steiner Syndrome: A Rare Differential Diagnosis of Neurodevelopmental Delay and Dysmorphic Features. 62
35769955 2022
45
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome. 62
33811134 2022
46
Wiedemann-Steiner Syndrome 62
35617449 2022
47
Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants. 62
35627274 2022
48
Dermatological adverse effects of anti-glaucoma eye drops: a review. 62
35032359 2022
49
Cyclosporine A-Induced Conchal Hyperplasia with Nasal Obstruction in a Patient with Membranous Nephropathy. 62
35642551 2022
50
Paraneoplastic hypertrichosis lanuginosa acquisita. 62
33871203 2022

Variations for Hypertrichosis

ClinVar genetic disease variations for Hypertrichosis:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ASXL1 NM_015338.6(ASXL1):c.1210C>T (p.Arg404Ter) SNV Pathogenic
30986 rs373145711 GRCh37: 20:31021211-31021211
GRCh38: 20:32433408-32433408
2 ARID1B NM_001374828.1(ARID1B):c.1861C>T (p.Gln621Ter) SNV Pathogenic
374179 rs1057518951 GRCh37: 6:157150430-157150430
GRCh38: 6:156829296-156829296
3 CREBBP GRCh37/hg19 16p13.3(chr16:3784414-3821324) CN LOSS Pathogenic
1047867 GRCh37: 16:3784414-3821324
GRCh38:
4 RAB3GAP1 NM_012233.3(RAB3GAP1):c.151-5T>G SNV Pathogenic
996741 rs1690127143 GRCh37: 2:135848563-135848563
GRCh38: 2:135090993-135090993
5 NAGLU NM_000263.4(NAGLU):c.507_516del (p.Ser169fs) DEL Pathogenic
1564 rs483352897 GRCh37: 17:40689535-40689544
GRCh38: 17:42537517-42537526
6 NAGLU NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) SNV Pathogenic
371634 rs753520553 GRCh37: 17:40689451-40689451
GRCh38: 17:42537433-42537433
7 ARID1B NM_001374828.1(ARID1B):c.3814del (p.Leu1272fs) DEL Likely Pathogenic
374133 rs1057518918 GRCh37: 6:157505463-157505463
GRCh38: 6:157184329-157184329
8 KCNJ11 NM_000525.4(KCNJ11):c.185C>G (p.Thr62Arg) SNV Likely Pathogenic
373928 rs1057518775 GRCh37: 11:17409454-17409454
GRCh38: 11:17387907-17387907
9 overlap with 3 genes GRCh37/hg19 6q25.3(chr6:156772218-157870875)x3 CN GAIN Uncertain Significance
523303 GRCh37: 6:156772218-157870875
GRCh38:

Expression for Hypertrichosis

Search GEO for disease gene expression data for Hypertrichosis.

Pathways for Hypertrichosis



Pathways directly related to Hypertrichosis:

# Pathway Source
1 Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome Reactome 66

GO Terms for Hypertrichosis

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

# Name GO ID Score Top Affiliating Genes
1 npBAF complex GO:0071564 9.67 SMARCE1 ARID1B
2 brahma complex GO:0035060 9.62 SMARCE1 ARID1B
3 bBAF complex GO:0140092 9.56 SMARCE1 ARID1B
4 potassium channel complex GO:0034705 9.33 KCNK4 KCNH1
5 potassium ion-transporting ATPase complex GO:0031004 9.26 KCNJ8 ABCC9
6 inward rectifying potassium channel GO:0008282 9.1 KCNJ8 KCNJ11 ABCC9

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

# Name GO ID Score Top Affiliating Genes
1 regulation of monoatomic ion transmembrane transport GO:0034765 9.86 KCNK4 KCNJ8 KCNJ11 KCNH1
2 potassium ion import across plasma membrane GO:1990573 9.8 KCNJ8 KCNJ11 ABCC9
3 monoatomic ion transport GO:0006811 9.77 KCNK4 KCNJ8 KCNJ11 KCNH1 ATP6V1B2
4 potassium ion transmembrane transport GO:0071805 9.65 KCNK4 KCNJ8 KCNJ11 KCNH1 ABCC9
5 inorganic cation transmembrane transport GO:0098662 9.63 ABCC9 KCNJ11 KCNJ8
6 potassium ion transport GO:0006813 9.23 KCNK4 KCNJ8 KCNJ11 KCNH1 ABCC9

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

# Name GO ID Score Top Affiliating Genes
1 potassium channel activity GO:0005267 9.72 KCNK4 KCNH1 ABCC9
2 voltage-gated monoatomic ion channel activity GO:0005244 9.46 KCNK4 KCNJ8 KCNJ11 KCNH1
3 ATPase-coupled monoatomic cation transmembrane transporter activity GO:0019829 9.43 KCNJ8 KCNJ11 ABCC9
4 voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential GO:0099508 9.26 KCNJ8 KCNJ11
5 ATP-activated inward rectifier potassium channel activity GO:0015272 9.1 KCNJ8 KCNJ11 ABCC9

Sources for Hypertrichosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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