Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: HYP077
MIFTS: 51

Hypertrichosis

Categories: Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
Sources

Aliases & Classifications for Hypertrichosis

About this section

MalaCards integrated aliases for Hypertrichosis:

Name: Hypertrichosis 12 29 6 44 15 72 33

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:420
MeSH 44 D006983
NCIt 50 C79597
SNOMED-CT 68 29966009 40090008
ICD10 33 L68 L68.3 L68.9
UMLS 72 C0020555
Sources

Summaries for Hypertrichosis

About this section
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 Chromatin organization and Gastric cancer. The drugs Tacrolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and liver, and related phenotypes are Increased Nanog expression and Increased Nanog expression

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

Sources

Related Diseases for Hypertrichosis

About this section

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 390)
# Related Disease Score Top Affiliating Genes
1 hypertrichosis universalis congenita, ambras type 33.6 TRPS1 HTC2
2 cantu syndrome 33.1 KCNJ8 KCNJ11 ABCC9
3 coffin-siris syndrome 1 32.6 SMARCE1 SMARCB1 SMARCA4 ARID1B ARID1A
4 hypertrichosis, congenital generalized, with or without gingival hyperplasia 12.8
5 hypertrichosis lanuginosa congenita 12.7
6 x-linked congenital generalized hypertrichosis 12.5
7 isolated anterior cervical hypertrichosis 12.5
8 hypertrichosis lanuginosa, acquired 12.5
9 hypertrichosis, anterior cervical 12.4
10 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome 12.4
11 cervical hypertrichosis peripheral neuropathy 12.4
12 histiocytosis-lymphadenopathy plus syndrome 12.4
13 acromegaloid hypertrichosis syndrome 12.4
14 amaurosis congenita, cone-rod type, with congenital hypertrichosis 12.3
15 facial hypertrichosis 12.3
16 hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy 12.3
17 cervical hypertrichosis with underlying kyphoscoliosis 12.3
18 barber-say syndrome 12.2
19 cerebral malformation, seizures, hypertrichosis, and overlapping fingers 12.2
20 fibromatosis, gingival, with hypertrichosis and mental retardation 12.2
21 fontaine progeroid syndrome 12.2
22 wiedemann-steiner syndrome 12.1
23 hypertrichosis of eyelid 12.1
24 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome 12.1
25 rare disorder with hypertrichosis 12.1
26 obsolete: eyebrow/eyelashes hypertrichosis 12.1
27 hairy elbows 12.0
28 ramon syndrome 11.8
29 cahmr syndrome 11.6
30 hairy ears, y-linked 11.4
31 schaap taylor baraitser syndrome 11.4
32 trichomegaly 11.4
33 zimmermann-laband syndrome 1 11.4
34 becker nevus syndrome 11.4
35 zimmermann-laband syndrome 11.4
36 congenital smooth muscle hamartoma 11.4
37 acromegaloid facial appearance syndrome 11.4
38 cornelia de lange syndrome 11.4
39 stiff skin syndrome 11.3
40 coffin-siris syndrome 8 11.3
41 multicentric osteolysis, nodulosis, and arthropathy 11.2
42 schinzel giedion syndrome 11.2
43 muller barth menger syndrome 11.1
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

Graphical network of the top 20 diseases related to Hypertrichosis:



Diseases related to Hypertrichosis
Sources

Symptoms & Phenotypes for Hypertrichosis

About this section

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 9.5 ARID1A SMARCA4 SMARCB1 SMARCE1
2 Increased Nanog expression GR00371-A-2 9.5 SMARCE1
3 Increased Nanog expression GR00371-A-3 9.5 ARID1A
4 Increased Nanog expression GR00371-A-5 9.5 ARID1A
5 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.23 ABCA5 KCNJ11 KCNJ8 SLC25A24 SLC29A3 SMARCA4

MGI Mouse Phenotypes related to Hypertrichosis:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.27 ABCC9 ARID1A ARID1B ASXL1 KCNJ11 KMT2A
2 cardiovascular system MP:0005385 10.25 ABCA5 ABCC9 ARID1A ARID1B KCNJ11 KCNJ8
3 behavior/neurological MP:0005386 10.22 ABCA5 ARID1B ASXL1 KCNJ11 KMT2A NAGLU
4 homeostasis/metabolism MP:0005376 10.22 ABCA5 ABCC9 ARID1A ARID1B ASXL1 KCNJ11
5 cellular MP:0005384 10.19 ABCC9 ARID1A ASXL1 KMT2A NAGLU SLC29A3
6 mortality/aging MP:0010768 10.16 ABCA5 ABCC9 ARID1A ARID1B ASXL1 KCNJ11
7 immune system MP:0005387 10.15 ARID1A ARID1B ASXL1 KCNJ8 KMT2A NAGLU
8 hematopoietic system MP:0005397 10.13 ARID1A ARID1B ASXL1 KMT2A NAGLU SLC29A3
9 craniofacial MP:0005382 10.02 ARID1A ASXL1 KMT2A NAGLU SMARCA4 TRPS1
10 liver/biliary system MP:0005370 9.87 ABCA5 ASXL1 KMT2A NAGLU SMARCA4 SMARCB1
11 muscle MP:0005369 9.81 ABCA5 ABCC9 ARID1A ARID1B KCNJ11 KMT2A
12 neoplasm MP:0002006 9.43 ARID1A ASXL1 KMT2A SLC29A3 SMARCA4 SMARCB1
13 vision/eye MP:0005391 9.17 ABCA5 ARID1A ASXL1 NAGLU SMARCA4 SMARCB1
Sources

Drugs & Therapeutics for Hypertrichosis

About this section

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

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tacrolimus Approved, Investigational Phase 3 104987-11-3 445643 439492 6473866
2
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
3 Antifungal Agents Phase 3
4 Anti-Infective Agents Phase 3
5 Immunosuppressive Agents Phase 3
6 Cyclosporins Phase 3
7 Immunologic Factors Phase 3
8 Dermatologic Agents Phase 3
9 Calcineurin Inhibitors Phase 3
10 Antirheumatic Agents Phase 3
11
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
12
Mycophenolic acid Approved Phase 2 24280-93-1 446541
13 Gastrointestinal Agents Phase 2
14 Antineoplastic Agents, Hormonal Phase 2
15 Anti-Bacterial Agents Phase 2
16 Antibiotics, Antitubercular Phase 2
17 Antitubercular Agents Phase 2
18 Liver Extracts
19 Chlorhexidine gluconate

Interventional clinical trials:

(show all 19)
# 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 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
3 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
4 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
5 Effectiveness and Safety of Intense Pulsed Light in Patients With Meibomian Gland Dysfunction Completed NCT03518398 Phase 3
6 Photodynamic Therapy for Permanent Hair Removal Unknown status NCT00371930 Phase 1, Phase 2
7 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
8 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
9 A Randomized Trial for the Treatment of Relapsing Aplastic Anemia With Mycophenolate Mofetil (MMF) and Cyclosporine (CSA) Completed NCT00005935 Phase 2 Mycophenolate mofetil;Cyclosporine
10 Optical Clearing of the Skin in Conjunction With Laser Treatments Completed NCT00580736 Phase 1
11 Peterio™ – an Add-on Device for Enhanced Safety of Aesthetic Laser Treatments. Unknown status NCT00441948
12 LASER HAIR REDUCTION BY COMBINED BIPOLAR RF AND 755 nm LASER ENERGIES Unknown status NCT02465788
13 Peterio™ – an Add-on Device for Enhanced Safety of Aesthetic Laser Treatments Unknown status NCT00495443
14 Efficacy and Safety of Platelet Rich Plasma in Androgenetic Alopecia: A Double-Blind, Randomized, Placebo Controlled Trial Unknown status NCT02074943
15 A Descriptive Study on the Effectiveness and Safety of Cyclosporin A Therapy in Steroid Dependent and Steroid Resistant Childhood Nephrotic Syndrome Unknown status NCT03219684
16 Efficacy Evaluation of the Activity of a Cosmetic Product (Topical Use) on Hair Regrowth vs Placebo Completed NCT03273504
17 Effect of Bimatoprost (Lumigan) in Gel Suspension Applied to the Eyelashes on Eyelash Growth Completed NCT00773136 Bimatoprost Suspension
18 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 Active, not recruiting NCT02591355
19 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 72 / NDF-RT 51 :


Eflornithine
Eflornithine Hydrochloride

Cochrane evidence based reviews: hypertrichosis

Sources

Genetic Tests for Hypertrichosis

About this section

Genetic tests related to Hypertrichosis:

# Genetic test Affiliating Genes
1 Hypertrichosis 29
Sources

Anatomical Context for Hypertrichosis

About this section

MalaCards organs/tissues related to Hypertrichosis:

41
Skin, Kidney, Liver, Pituitary, Ovary, Smooth Muscle, Heart
Sources

Publications for Hypertrichosis

About this section

Articles related to Hypertrichosis:

(show top 50) (show all 1631)
# Title Authors PMID Year
1
Effects of Cyclosporine on Palmoplantar Pustulosis and Serum Expression of IL-17, IL-23, and TNF-α. 38
31240637 2019
2
Unequaled overgrowth inside and out-an exceptional example of hypertrichosis overlying plexiform neurofibroma. 38
31388536 2019
3
[Paraneoplastic skin diseases]. 38
31273399 2019
4
You "Cantu": Multidisciplinary Collaboration Resulting in Successful Orthognathic Surgery. 38
31401848 2019
5
Intense pulsed light treatment for Becker's nevus. 38
31416363 2019
6
A retrospective study: Clinicopathological and immunohistochemical analysis of 54 cases of tufted angioma. 38
31397400 2019
7
Lasers for Becker's nevus. 38
30762191 2019
8
Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience. 38
31175705 2019
9
Gardner fibroma with localized hypertrichosis without adenomatous polyposis coli gene mutation. 38
31403969 2019
10
Cholesterol homeostasis: Links to hair follicle biology and hair disorders. 38
31260136 2019
11
Diazoxide for the Treatment of Hypoglycemia Resulting From Dumping Syndrome in a Child. 38
31286099 2019
12
Cutaneous paraneoplastic syndromes. 38
30736994 2019
13
Erythematous plaque with hypertrichosis on right lateral thigh of infant. 38
31236940 2019
14
Differences in skin lesions of endogenous and exogenous Cushing's patients. 38
31333343 2019
15
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. 38
30349098 2019
16
A novel 3' untranslated region mutation in the SLC29A3 gene associated with pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus syndrome. 38
30821020 2019
17
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome. 38
31155282 2019
18
Generalized hypertrichosis due to secukinumab in a patient with moderate psoriasis: A case of serendipity or zemblanity? 38
30963671 2019
19
Hair disorders in cancer survivors. 38
29660423 2019
20
Hair disorders in patients with cancer. 38
29660422 2019
21
An Interesting Coexistence of Multifocal Hypertrichosis and Hirsutism in Hypomelanosis of Ito. 38
31149581 2019
22
Long-term follow-up of children and young adults with autoimmune hepatitis treated with cyclosporine. 38
30502231 2019
23
Localized Hypertrichosis with Traumatic Panniculitis: A Case Report and Literature Review. 38
31320866 2019
24
Identification of a novel homozygous frameshift mutation in SLC29A3 gene in a case with H syndrome from Iran. 38
30723056 2019
25
H Syndrome - A Case Report. 38
31149577 2019
26
ARID1B-Related Disorder 38
31132234 2019
27
Acquired hypertrichosis of the periorbital area and malar cheek. 38
31116825 2019
28
Skin lesions in organ transplant recipients: a study of 177 consecutive Brazilian patients. 38
30565651 2019
29
[Skin Changes in POEMS Syndrome]. 38
30988219 2019
30
Porphyria Cutanea Tarda Presenting as Erythema-multiforme Like Lesions. 38
31110391 2019
31
Multidisciplinary eyelid reconstruction in Barber-Say syndrome: A case report. 38
30455119 2019
32
A Case Report of Scrotal Rejuvenation: Laser Treatment of Angiokeratomas of the Scrotum. 38
30478818 2019
33
Barber Say Syndrome (A New Case Report). 38
30984591 2019
34
Indurated Dusky Red Swelling on the Forearm of an Infant: Tufted Angioma. 38
30983612 2019
35
Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report. 38
31168168 2019
36
A novel triple combination in treatment of melasma: Significant outcome with far less actives. 38
30920111 2019
37
The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene. 38
30549396 2019
38
Acquired Localized Hypertrichosis Following Pressure Garment and/or Silicone Therapy in Burn Patients. 38
30562202 2019
39
Cornelia de Lange syndrome in diverse populations. 38
30614194 2019
40
Nodular lesion in right thigh with hypertrichosis in a 2-year-old girl. 38
30675943 2019
41
A Case of Cornelia de Lange Syndrome: Difficulty in Prenatal Diagnosis. 38
31214369 2019
42
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay. 38
30580808 2019
43
Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients. 38
29698805 2019
44
Clinical, Histochemical, and Molecular Study of Three Turkish Siblings Diagnosed with H Syndrome, and Literature Review. 38
30625464 2019
45
Periocular Manifestations of Afatinib Therapy. 38
30531213 2019
46
Report of a patient with a de novo non-recurrent duplication of 17p11.2p12 and Yq11 deletion. 38
31388356 2019
47
Safety and Effectiveness of Conversion From Cyclosporine to Once-Daily Prolonged-Release Tacrolimus in Stable Kidney Transplant Patients: A Multicenter Observational Study in Japan. 38
30577196 2018
48
[Hypertrichosis cubiti in a girl with precocious puberty: Case report]. 38
30457733 2018
49
Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism. 38
30526868 2018
50
Progressive discoloration over the right shoulder. 38
30481248 2018
Sources

Variations for Hypertrichosis

About this section

ClinVar genetic disease variations for Hypertrichosis:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ARID1B NM_020732.3(ARID1B): c.1612C> T (p.Gln538Ter) single nucleotide variant Pathogenic rs1057518951 6:157150430-157150430 6:156829296-156829296
2 NAGLU NM_000263.4(NAGLU): c.507_516del (p.Ser169fs) deletion Pathogenic rs483352897 17:40689535-40689544 17:42537517-42537526
3 ASXL1 NM_015338.5(ASXL1): c.1210C> T (p.Arg404Ter) single nucleotide variant Pathogenic rs373145711 20:31021211-31021211 20:32433408-32433408
4 NAGLU NM_000263.4(NAGLU): c.419A> G (p.Tyr140Cys) single nucleotide variant Pathogenic/Likely pathogenic rs753520553 17:40689451-40689451 17:42537433-42537433
5 ARID1B NM_020732.3(ARID1B): c.3445del (p.Leu1149fs) deletion Likely pathogenic rs1057518918 6:157505463-157505463 6:157184329-157184329
6 KCNJ11 NM_000525.3(KCNJ11): c.185C> G (p.Thr62Arg) single nucleotide variant Likely pathogenic rs1057518775 11:17409454-17409454 11:17387907-17387907
7 ARID1B ; TMEM242 ; ZDHHC14 GRCh37/hg19 6q25.3(chr6: 156772218-157870875)x3 copy number gain Uncertain significance 6:156772218-157870875 :0-0
Sources

Expression for Hypertrichosis

About this section
Search GEO for disease gene expression data for Hypertrichosis.
Sources

Pathways for Hypertrichosis

About this section

Pathways related to Hypertrichosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Chromatin organization 66
Show member pathways
 12.58 SMARCE1 SMARCB1 SMARCA4 KMT2A ARID1B ARID1A
2
Gastric cancer 37
Show member pathways
 12.39 SMARCE1 SMARCB1 SMARCA4 ARID1B ARID1A
3
Chromatin Regulation / Acetylation 4
12.08 SMARCB1 SMARCA4 KMT2A ARID1A
4
Potassium Channels 66
Show member pathways
 11.78 KCNJ8 KCNJ11 ABCC9
5
Inwardly rectifying K+ channels 66
Show member pathways
 11.64 KCNJ8 KCNJ11 ABCC9
6
AMPK Enzyme Complex Pathway 64
Show member pathways
 11.49 SMARCE1 SMARCB1 SMARCA4 ARID1A
7
Antiarrhythmic Pathway, Pharmacodynamics 61
11.08 KCNJ8 KCNJ11 ABCC9
8
Transcription Ligand-dependent activation of the ESR1/SP pathway 22
Show member pathways
 10.87 SMARCE1 SMARCB1 SMARCA4 ARID1B ARID1A
Sources

GO Terms for Hypertrichosis

About this section

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 9.88 VPS37A SMARCB1 SLC29A3 KCNJ8 KCNJ11 ABCA5
2 nuclear chromatin GO:0000790 9.8 TRPS1 SMARCE1 SMARCB1 SMARCA4 ASXL1 ARID1A
3 late endosome membrane GO:0031902 9.63 VPS37A SLC29A3 ABCA5
4 sarcolemma GO:0042383 9.61 KCNJ8 KCNJ11 ABCC9
5 npBAF complex GO:0071564 9.46 SMARCE1 SMARCB1 SMARCA4 ARID1A
6 inward rectifying potassium channel GO:0008282 9.43 KCNJ8 KCNJ11 ABCC9
7 SWI/SNF superfamily-type complex GO:0070603 9.37 ARID1B ARID1A
8 SWI/SNF complex GO:0016514 9.35 SMARCE1 SMARCB1 SMARCA4 ARID1B ARID1A
9 nBAF complex GO:0071565 9.02 SMARCE1 SMARCB1 SMARCA4 ARID1B ARID1A

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.8 SMARCE1 SMARCB1 SMARCA4 NAGLU ARID1B ARID1A
2 potassium ion transport GO:0006813 9.69 KCNJ8 KCNJ11 ABCC9
3 potassium ion import across plasma membrane GO:1990573 9.58 KCNJ8 KCNJ11 ABCC9
4 ATP-dependent chromatin remodeling GO:0043044 9.56 SMARCE1 SMARCB1 SMARCA4 ARID1A
5 chromatin remodeling GO:0006338 9.55 SMARCE1 SMARCB1 SMARCA4 ARID1B ARID1A
6 chromatin organization GO:0006325 9.5 SMARCE1 SMARCB1 SMARCA4 KMT2A ASXL1 ARID1B
7 positive regulation by host of viral transcription GO:0043923 9.49 SMARCB1 SMARCA4
8 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I GO:1901838 9.48 SMARCB1 SMARCA4
9 RNA polymerase I preinitiation complex assembly GO:0001188 9.46 SMARCB1 SMARCA4
10 chromatin-mediated maintenance of transcription GO:0048096 9.43 ARID1B ARID1A
11 positive regulation of glucose mediated signaling pathway GO:1902661 9.37 SMARCB1 SMARCA4
12 nucleosome disassembly GO:0006337 8.92 SMARCE1 SMARCB1 SMARCA4 ARID1A

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

# Name GO ID Score Top Affiliating Genes
1 nuclear receptor binding GO:0016922 9.46 SMARCE1 ARID1A
2 inward rectifier potassium channel activity GO:0005242 9.43 KCNJ8 KCNJ11
3 nucleosomal DNA binding GO:0031492 9.43 SMARCE1 SMARCB1 SMARCA4
4 lysine-acetylated histone binding GO:0070577 9.4 SMARCA4 KMT2A
5 Tat protein binding GO:0030957 9.37 SMARCB1 SMARCA4
6 RNA polymerase I CORE element sequence-specific DNA binding GO:0001164 9.32 SMARCB1 SMARCA4
7 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 9.26 SMARCE1 SMARCB1 SMARCA4 KMT2A
8 ATP-activated inward rectifier potassium channel activity GO:0015272 9.16 KCNJ8 KCNJ11
9 transcription coactivator activity GO:0003713 9.1 SMARCE1 SMARCB1 SMARCA4 ASXL1 ARID1B ARID1A
10 DNA binding GO:0003677 10.08 TWIST2 TRPS1 SMARCE1 SMARCB1 KMT2A ASXL1
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 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
Content
Loading form....