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MCID: HYP077
MIFTS: 50

Hypertrichosis

Categories: Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Hypertrichosis

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MalaCards integrated aliases for Hypertrichosis:

Name: Hypertrichosis 12 29 6 43 15 71 32

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:420
MeSH 43 D006983
NCIt 49 C79597
SNOMED-CT 67 29966009
ICD10 32 L68 L68.9
UMLS 71 C0020555
Sources

Summaries for Hypertrichosis

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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 universalis congenita, ambras type and cantu syndrome. An important gene associated with Hypertrichosis is ARID1B (AT-Rich Interaction Domain 1B), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Transmission across Chemical Synapses. The drugs Histamine and Cetirizine have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and liver, and related phenotypes are growth/size/body region and behavior/neurological

Wikipedia : 74 Hypertrichosis is an abnormal amount of hair growth over the body. The two distinct types of... more...

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Related Diseases for Hypertrichosis

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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 396)
# Related Disease Score Top Affiliating Genes
1 hypertrichosis universalis congenita, ambras type 34.1 TRPS1 HTC2
2 cantu syndrome 33.8 KCNJ8 KCNJ11 ABCC9
3 coffin-siris syndrome 1 33.7 SMARCE1 SMARCB1 SMARCA4 ARID1B
4 rare disorder with hypertrichosis 33.7 NAGLU ASXL1 ARID1B
5 zimmermann-laband syndrome 1 33.0 KCNH1 ATP6V1B2
6 zimmermann-laband syndrome 32.8 KCNH1 ATP6V1B2
7 cornelia de lange syndrome 32.3 TRPS1 KMT2A ASXL1 ARID1B
8 coffin-siris syndrome 4 32.2 SMARCE1 SMARCA4
9 cantú syndrome and related disorders 31.3 KCNJ8 ABCC9
10 secretory meningioma 30.3 SMARCE1 SMARCB1
11 spinal meningioma 30.3 SMARCE1 SMARCB1 SMARCA4 ARID1B
12 hypertrichosis, congenital generalized, with or without gingival hyperplasia 12.8
13 hypertrichosis lanuginosa congenita 12.7
14 hypertrichosis, anterior cervical 12.6
15 hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy 12.6
16 x-linked congenital generalized hypertrichosis 12.5
17 hypertrichosis lanuginosa, acquired 12.5
18 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 12.4
19 acromegaloid hypertrichosis syndrome 12.4
20 histiocytosis-lymphadenopathy plus syndrome 12.4
21 facial hypertrichosis 12.3
22 amaurosis congenita, cone-rod type, with congenital hypertrichosis 12.3
23 cervical hypertrichosis with underlying kyphoscoliosis 12.3
24 cerebral malformation, seizures, hypertrichosis, and overlapping fingers 12.3
25 barber-say syndrome 12.2
26 fibromatosis, gingival, with hypertrichosis and mental retardation 12.2
27 fontaine progeroid syndrome 12.2
28 wiedemann-steiner syndrome 12.1
29 hypertrichosis of eyelid 12.1
30 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome 12.1
31 hairy elbows 12.1
32 ramon syndrome 11.8
33 cahmr syndrome 11.6
34 schinzel-giedion midface retraction syndrome 11.5
35 hairy ears, y-linked 11.4
36 schaap taylor baraitser syndrome 11.4
37 trichomegaly 11.4
38 becker nevus syndrome 11.4
39 congenital smooth muscle hamartoma 11.4
40 acromegaloid facial appearance syndrome 11.4
41 stiff skin syndrome 11.3
42 multicentric osteolysis, nodulosis, and arthropathy 11.3
43 coffin-siris syndrome 8 11.3
44 hairy palms and soles 11.0
45 hyperostosis frontalis interna 11.0
46 variegate porphyria 11.0
47 dysosteosclerosis 11.0
48 fascial dystrophy, congenital 11.0
49 porphyria, congenital erythropoietic 11.0
50 multiple sulfatase deficiency 11.0

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Symptoms & Phenotypes for Hypertrichosis

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MGI Mouse Phenotypes related to Hypertrichosis:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.3 ABCC9 ARID1B ASXL1 ATP6V1B2 KCNJ11 KCNJ8
2 behavior/neurological MP:0005386 10.29 ABCC9 ARID1B ASXL1 ATP6V1B2 KCNH1 KCNJ11
3 mortality/aging MP:0010768 10.22 ABCC9 ARID1B ASXL1 ATP6V1B2 KCNJ11 KCNJ8
4 cardiovascular system MP:0005385 10.19 ABCC9 ARID1B KCNJ11 KCNJ8 KMT2A NAGLU
5 immune system MP:0005387 10.18 ARID1B ASXL1 ATP6V1B2 KCNJ8 KMT2A NAGLU
6 hematopoietic system MP:0005397 10.13 ARID1B ASXL1 ATP6V1B2 KMT2A NAGLU SLC29A3
7 craniofacial MP:0005382 10.02 ASXL1 KMT2A NAGLU SMARCA4 TMEM94 TRPS1
8 integument MP:0010771 9.97 ARID1B KCNJ11 KMT2A NAGLU SMARCA4 SMARCB1
9 muscle MP:0005369 9.91 ABCC9 ARID1B KCNJ11 KCNJ8 KMT2A SMARCA4
10 nervous system MP:0003631 9.8 ABCC9 ARID1B ATP6V1B2 KCNH1 KCNJ11 KCNJ8
11 neoplasm MP:0002006 9.63 ASXL1 KMT2A SLC29A3 SMARCA4 SMARCB1 TWIST2
12 skeleton MP:0005390 9.28 ARID1B ASXL1 KMT2A NAGLU SMARCA4 SMARCB1
Sources

Drugs & Therapeutics for Hypertrichosis

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

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Histamine Approved, Investigational Phase 4 51-45-6 774
2
Cetirizine Approved Phase 4 83881-51-0 2678
3
Minoxidil Approved, Investigational Phase 4 38304-91-5 4201
4 Histamine Antagonists Phase 4
5 Histamine H1 Antagonists, Non-Sedating Phase 4
6 Anti-Allergic Agents Phase 4
7 Histamine H1 Antagonists Phase 4
8 Vasodilator Agents Phase 4
9
Histamine Phosphate Phase 4 51-74-1 65513
10 Neurotransmitter Agents Phase 4
11
Tacrolimus Approved, Investigational Phase 3 104987-11-3 445643 439492 6473866
12 Immunosuppressive Agents Phase 3
13 Cyclosporins Phase 3
14 Calcineurin Inhibitors Phase 3
15 Immunologic Factors Phase 3
16
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
17
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
18
Mycophenolic acid Approved Phase 2 24280-93-1 446541
19
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
20 Antineoplastic Agents, Hormonal Phase 2
21 Gastrointestinal Agents Phase 2
22 Antitubercular Agents Phase 2
23 Anti-Bacterial Agents Phase 2
24 Antifungal Agents Phase 2
25 Anti-Infective Agents Phase 2
26 Dermatologic Agents Phase 2
27 Antibiotics, Antitubercular Phase 2
28 Antirheumatic Agents Phase 2
29
Chlorhexidine Approved, Vet_approved 55-56-1 9552079 2713
30 Liver Extracts
31 Chlorhexidine gluconate

Interventional clinical trials:

(show all 20)
# 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 Topical Cetirizine Gel Versus Minoxidil 5% Gel in Treatment of Androgenetic Alopecia Not yet recruiting NCT04293822 Phase 4 Cetirizine;Minoxidil
3 Efficacy and Safety of Topical Bimatoprost Solution 0.03% in Stable Vitiligo:A Preliminary Study Withdrawn NCT01202513 Phase 4 Bimatoprost 0.03% topical ophthalmic solution
4 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
5 A Multicenter, Single-arm, Open, Conversion Study From a Cyclosporine (CyA) Based Immunosuppressive Regimen to a Tacrolimus Modified Release, FK506E (MR4), Based Immunosuppressive Regimen in Kidney Transplant Subjects (CONCERTO: Converting Cyclosporine to FK506E (MR4) in Renal Transplantation) Completed NCT00481481 Phase 3 tacrolimus
6 Effectiveness and Safety of Intense Pulsed Light in Patients With Meibomian Gland Dysfunction Completed NCT03518398 Phase 3
7 Photodynamic Therapy for Permanent Hair Removal Unknown status NCT00371930 Phase 1, Phase 2
8 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
9 Replace Sandostatine® in Three Daily Subcutaneous Injections by a Single Intramuscular Injection of Sandostatine® LP Per Month in Patients With a Diffuse Form of Hyperinsulinism Completed NCT00987168 Phase 2 Sandostatine LP
10 A Randomized Trial for the Treatment of Relapsing Aplastic Anemia With Mycophenolate Mofetil (MMF) and Cyclosporine (CSA) Completed NCT00005935 Phase 2 Mycophenolate mofetil;Cyclosporine
11 Optical Clearing of the Skin in Conjunction With Laser Treatments Completed NCT00580736 Phase 1
12 Peterio™ – an Add-on Device for Enhanced Safety of Aesthetic Laser Treatments. Unknown status NCT00441948
13 LASER HAIR REDUCTION BY COMBINED BIPOLAR RF AND 755 nm LASER ENERGIES Unknown status NCT02465788
14 Peterio™ – an Add-on Device for Enhanced Safety of Aesthetic Laser Treatments Unknown status NCT00495443
15 Efficacy and Safety of Platelet Rich Plasma in Androgenetic Alopecia: A Double-Blind, Randomized, Placebo Controlled Trial Unknown status NCT02074943
16 A Descriptive Study on the Effectiveness and Safety of Cyclosporin A Therapy in Steroid Dependent and Steroid Resistant Childhood Nephrotic Syndrome Unknown status NCT03219684
17 Efficacy Evaluation of the Activity of a Cosmetic Product (Topical Use) on Hair Regrowth vs Placebo Completed NCT03273504
18 Effect of Bimatoprost (Lumigan) in Gel Suspension Applied to the Eyelashes on Eyelash Growth Completed NCT00773136 Bimatoprost Suspension
19 A Monocentric, Double-blind, Randomized, Active- and Placebo-controlled Split-scalp Study to Evaluate the Clinical Effectiveness of Platelet-rich Plasma (PRP) in the Treatment of Androgenetic Alopecia Completed NCT02591355
20 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

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Genetic Tests for Hypertrichosis

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Genetic tests related to Hypertrichosis:

# Genetic test Affiliating Genes
1 Hypertrichosis 29
Sources

Anatomical Context for Hypertrichosis

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MalaCards organs/tissues related to Hypertrichosis:

40
Skin, Kidney, Liver, Pituitary, Smooth Muscle, Ovary, Heart
Sources

Publications for Hypertrichosis

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Articles related to Hypertrichosis:

(show top 50) (show all 1676)
# Title Authors PMID Year
1
Low-dose oral minoxidil as treatment for non-scarring alopecia: a systematic review. 61
32516434 2020
2
Mutation in the SLC29A3 Gene in an Egyptian Patient with H Syndrome: A Case Report and Review of Literature. 61
32341814 2020
3
The Efficacy of Intense Pulsed Light for Becker's Nevus: A Retrospective Analysis of 45 Cases. 61
32573892 2020
4
Osteopontin regulatory functions in the hair follicle open a therapeutic approach for hypertrichosis. 61
31774146 2020
5
An osteopontin-derived peptide inhibits human hair growth at least in part by decreasing fibroblast growth factor-7 production in outer root sheath keratinocytes. 61
31487385 2020
6
Three-dimensional facial morphology in Cantú syndrome. 61
32100467 2020
7
Cantu syndrome: A longitudinal review of vascular findings in three individuals. 61
32065455 2020
8
Is Gorlin-Chaudhry-Moss syndrome associated with aortopathy? 61
32355952 2020
9
A prospective study on patterns of topical steroids self-use in dermatophytoses and determinants predictive of cutaneous side effects. 61
32449316 2020
10
A paternal t(6;22)(q25.3;p12) leading to a deleted and satellited der(6) in a short-lived infant. 61
32399990 2020
11
Generalized hypertrichosis in an infant after treatment with propranolol for infantile hemangioma. 61
32242868 2020
12
Persistent localized hypertrichosis in a Caucasian child at sites of DTPa and chickenpox vaccination. 61
32280044 2020
13
Cyclosporine-induced childhood generalized hypertrichosis. 61
32265055 2020
14
Non-corticosteroid immunosuppressive medications for steroid-sensitive nephrotic syndrome in children. 61
32297308 2020
15
Evaluation of Morphological Characteristics of the Human Ear in Young Adults. 61
32282670 2020
16
Thrombosis revealing POEMS syndrome. About a case. 61
32162605 2020
17
Changes in Prostaglandin-associated Periorbital Syndrome After Switch from Conventional Prostaglandin F2α Treatment to Omidenepag Isopropyl in 11 Consecutive Patients. 61
31913226 2020
18
[Cutaneous signs of occult cranial and spinal dysraphism]. 61
32340727 2020
19
Syndromes with gingival fibromatosis: A systematic review. 61
32335995 2020
20
Wiedemann-steiner syndrome with a de novo mutation in KMT2A: A case report. 61
32311999 2020
21
Study of Clinical Profile of Patients Presenting with Topical Steroid-Induced Facial Dermatosis to a Tertiary Care Hospital. 61
32477980 2020
22
PPAR-γ signalling as a key mediator of human hair follicle physiology and pathology. 61
31769892 2020
23
Skin and hair abnormalities of Cantu syndrome: A congenital hypertrichosis due to a genetic alteration mimicking the pharmacological effect of minoxidil. 61
31907964 2020
24
Cholesterol homeostasis: Links to hair follicle biology and hair disorders. 61
31260136 2020
25
Systematized naevoid hypertrichosis may herald Happle-Tinschert syndrome. 61
31710127 2020
26
You "Cantu": Multidisciplinary Collaboration Resulting in Successful Orthognathic Surgery. 61
31401848 2020
27
Hypertrichotic patches as a mosaic manifestation of Proteus syndrome. 61
32035943 2020
28
Erythrokeratodermia variabilis with hypertrichosis on the lesions. 61
31977560 2020
29
First Korean Case of Coffin-Siris Syndrome with a Novel Frameshift ARID1B Mutation. 61
32161024 2020
30
Wiedemann-Steiner syndrome in two patients from Portugal. 61
31710778 2020
31
Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat. 61
32467733 2020
32
Gingival fibromatosis with congenital hypertrichosis. 61
31983850 2020
33
A retrospective study: Clinicopathological and immunohistochemical analysis of 54 cases of tufted angioma. 61
31397400 2020
34
Rhinologic signs associated with snuff taking. 61
31699623 2020
35
Malignant Ovarian Steroid Cell Tumor, Not Otherwise Specified, Causes Virilization in a 4-Year-Old Girl: A Case Report and Literature Review. 61
32355490 2020
36
A novel triple combination in treatment of melasma: Significant outcome with far less actives. 61
30920111 2019
37
Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry. 61
31828977 2019
38
Cantu syndrome and hypopituitarism: implications for endocrine monitoring. 61
31743099 2019
39
Formulation and Quantitative Analysis of Betamethasone Valerate and Neomycin Sulfate Cream by High Performance Liquid Chromatography and Spectrophotometry. 61
32127988 2019
40
Progressive blistering and hypertrichosis in a young child. 61
31778569 2019
41
Faun tail nevus: A series of 15 cases and their management with Intense Pulse Light. 61
31719732 2019
42
Minoxidil-induced hypertrichosis in an 8-month-old infant. 61
31646615 2019
43
Intense pulsed light treatment for Becker's nevus. 61
31416363 2019
44
Gardner fibroma with localized hypertrichosis without adenomatous polyposis coli gene mutation. 61
31403969 2019
45
Michelin Tire Baby Syndrome: A Rare Case with Review of Literature. 61
31696012 2019
46
Effects of Cyclosporine on Palmoplantar Pustulosis and Serum Expression of IL-17, IL-23, and TNF-α. 61
31240637 2019
47
[Paraneoplastic skin diseases]. 61
31273399 2019
48
Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience. 61
31175705 2019
49
Lasers for Becker's nevus. 61
30762191 2019
50
A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature. 61
31464584 2019
Sources

Variations for Hypertrichosis

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ClinVar genetic disease variations for Hypertrichosis:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NAGLU NM_000263.4(NAGLU):c.507_516del (p.Ser169fs)deletion Pathogenic 1564 rs483352897 17:40689535-40689544 17:42537517-42537526
2 ASXL1 NM_015338.5(ASXL1):c.1210C>T (p.Arg404Ter)SNV Pathogenic 30986 rs373145711 20:31021211-31021211 20:32433408-32433408
3 ARID1B NM_020732.3(ARID1B):c.1612C>T (p.Gln538Ter)SNV Pathogenic 374179 rs1057518951 6:157150430-157150430 6:156829296-156829296
4 NAGLU NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)SNV Pathogenic/Likely pathogenic 371634 rs753520553 17:40689451-40689451 17:42537433-42537433
5 ARID1B NM_017519.2(ARID1B):c.3406del (p.Leu1136fs)deletion Likely pathogenic 374133 rs1057518918 6:157505463-157505463 6:157184329-157184329
6 KCNJ11 NM_000525.3(KCNJ11):c.185C>G (p.Thr62Arg)SNV Likely pathogenic 373928 rs1057518775 11:17409454-17409454 11:17387907-17387907
7 ARID1B , TMEM242 , ZDHHC14 GRCh37/hg19 6q25.3(chr6:156772218-157870875)x3copy number gain Uncertain significance 523303 6:156772218-157870875
Sources

Expression for Hypertrichosis

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Search GEO for disease gene expression data for Hypertrichosis.
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Pathways for Hypertrichosis

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Pathways related to Hypertrichosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. 65
Show member pathways
 12.91 SURF1 SMARCE1 SMARCB1 SMARCA4 ATP6V1B2 ARID1B
2
Transmission across Chemical Synapses 65
Show member pathways
 12.65 KCNK4 KCNJ8 KCNJ11 KCNH1 ABCC9
3
Chromatin organization 65
Show member pathways
 12.57 SMARCE1 SMARCB1 SMARCA4 KMT2A ARID1B
4
Inwardly rectifying K+ channels 65
Show member pathways
 11.49 KCNJ8 KCNJ11 ABCC9
5
Potassium Channels 65
Show member pathways
 11.19 KCNK4 KCNJ8 KCNJ11 KCNH1 ABCC9
6
Transcription Ligand-dependent activation of the ESR1/SP pathway 22
Show member pathways
 11.1 SMARCE1 SMARCB1 SMARCA4 ARID1B
7
Antiarrhythmic Pathway, Pharmacodynamics 60
11.08 KCNJ8 KCNJ11 ABCC9
Sources

GO Terms for Hypertrichosis

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

# Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 9.91 SMARCB1 SLC29A3 KCNJ8 KCNJ11 KCNH1 ATP6V1B2
2 axolemma GO:0030673 9.46 KCNJ11 KCNH1
3 npBAF complex GO:0071564 9.43 SMARCE1 SMARCB1 SMARCA4
4 potassium channel complex GO:0034705 9.4 KCNK4 KCNH1
5 brahma complex GO:0035060 9.37 SMARCB1 ARID1B
6 inward rectifying potassium channel GO:0008282 9.33 KCNJ8 KCNJ11 ABCC9
7 potassium ion-transporting ATPase complex GO:0031004 9.32 KCNJ8 ABCC9
8 SWI/SNF complex GO:0016514 9.26 SMARCE1 SMARCB1 SMARCA4 ARID1B
9 nBAF complex GO:0071565 8.92 SMARCE1 SMARCB1 SMARCA4 ARID1B

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.97 KCNK4 KCNJ8 KCNJ11 KCNH1 ATP6V1B2
2 nervous system development GO:0007399 9.92 SMARCE1 SMARCB1 SMARCA4 NAGLU ARID1B
3 ion transmembrane transport GO:0034220 9.84 KCNJ8 KCNJ11 KCNH1 ATP6V1B2
4 chromatin organization GO:0006325 9.8 SMARCE1 SMARCB1 SMARCA4 KMT2A ASXL1 ARID1B
5 regulation of ion transmembrane transport GO:0034765 9.78 KCNK4 KCNJ8 KCNJ11 KCNH1
6 chromatin remodeling GO:0006338 9.71 SMARCE1 SMARCB1 SMARCA4 ARID1B
7 potassium ion transport GO:0006813 9.65 KCNK4 KCNJ8 KCNJ11 KCNH1 ABCC9
8 potassium ion import across plasma membrane GO:1990573 9.63 KCNJ8 KCNJ11 ABCC9
9 response to ATP GO:0033198 9.56 KCNJ11 ABCC9
10 positive regulation by host of viral transcription GO:0043923 9.55 SMARCB1 SMARCA4
11 potassium ion transmembrane transport GO:0071805 9.55 KCNK4 KCNJ8 KCNJ11 KCNH1 ABCC9
12 nucleosome disassembly GO:0006337 9.54 SMARCE1 SMARCB1 SMARCA4
13 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I GO:1901838 9.51 SMARCB1 SMARCA4
14 RNA polymerase I preinitiation complex assembly GO:0001188 9.49 SMARCB1 SMARCA4
15 positive regulation of glucose mediated signaling pathway GO:1902661 9.43 SMARCB1 SMARCA4
16 inorganic cation transmembrane transport GO:0098662 9.13 KCNJ8 KCNJ11 ABCC9
17 ATP-dependent chromatin remodeling GO:0043044 8.92 SMARCE1 SMARCB1 SMARCA4 ARID1B

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.11 TWIST2 TRPS1 SMARCE1 SMARCB1 SMARCA4 KMT2A
2 ion channel binding GO:0044325 9.67 KCNJ11 KCNH1 ABCC9
3 voltage-gated ion channel activity GO:0005244 9.62 KCNK4 KCNJ8 KCNJ11 KCNH1
4 potassium channel activity GO:0005267 9.61 KCNK4 KCNH1 ABCC9
5 transcription coactivator activity GO:0003713 9.55 SMARCE1 SMARCB1 SMARCA4 ASXL1 ARID1B
6 lysine-acetylated histone binding GO:0070577 9.48 SMARCA4 KMT2A
7 inward rectifier potassium channel activity GO:0005242 9.46 KCNJ8 KCNJ11
8 nucleosomal DNA binding GO:0031492 9.43 SMARCE1 SMARCB1 SMARCA4
9 Tat protein binding GO:0030957 9.4 SMARCB1 SMARCA4
10 RNA polymerase I CORE element sequence-specific DNA binding GO:0001164 9.37 SMARCB1 SMARCA4
11 cation-transporting ATPase activity GO:0019829 9.13 KCNJ8 KCNJ11 ABCC9
12 ATP-activated inward rectifier potassium channel activity GO:0015272 8.8 KCNJ8 KCNJ11 ABCC9
Sources

Sources for Hypertrichosis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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