Aliases & Classifications for Hypertrichosis

MalaCards integrated aliases for Hypertrichosis:

Name: Hypertrichosis 12 29 6 44 15 73

Classifications:



External Ids:

Disease Ontology 12 DOID:420
ICD10 33 L68 L68.3 L68.9
MeSH 44 D006983
NCIt 50 C79597
SNOMED-CT 68 29966009 40090008
UMLS 73 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 cantu syndrome and coffin-siris syndrome 1. 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 Drospirenone and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and pituitary, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 76 Hypertrichosis is an abnormal amount of hair growth over the body. The two distinct types of... more...

Related Diseases for Hypertrichosis

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

(show top 50) (show all 171)
# Related Disease Score Top Affiliating Genes
1 cantu syndrome 33.0 ABCC9 KCNJ11 KCNJ8
2 coffin-siris syndrome 1 31.5 ARID1A ARID1B ARID2 SMARCA4 SMARCB1 SMARCE1
3 hypertrichosis, congenital generalized, with or without gingival hyperplasia 12.6
4 hypertrichosis universalis congenita, ambras type 12.6
5 hypertrichosis lanuginosa congenita 12.6
6 hypertrichosis lanuginosa, acquired 12.4
7 isolated anterior cervical hypertrichosis 12.4
8 x-linked congenital generalized hypertrichosis 12.4
9 hypertrichosis, anterior cervical 12.3
10 cervical hypertrichosis peripheral neuropathy 12.2
11 facial hypertrichosis 12.2
12 histiocytosis-lymphadenopathy plus syndrome 12.1
13 cervical hypertrichosis with underlying kyphoscoliosis 12.1
14 acromegaloid hypertrichosis syndrome 12.1
15 barber-say syndrome 12.0
16 amaurosis congenita, cone-rod type, with congenital hypertrichosis 12.0
17 fontaine progeroid syndrome 12.0
18 hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy 12.0
19 hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features 12.0
20 wiedemann-steiner syndrome 11.9
21 cerebral malformation, seizures, hypertrichosis, and overlapping fingers 11.9
22 fibromatosis, gingival, with hypertrichosis and mental retardation 11.9
23 hypertrichosis of eyelid 11.9
24 autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome 11.9
25 hairy elbows 11.9
26 trichomegaly 11.3
27 schaap taylor baraitser syndrome 11.3
28 zimmermann-laband syndrome 1 11.3
29 congenital smooth muscle hamartoma 11.2
30 cahmr syndrome 11.1
31 ramon syndrome 11.1
32 stiff skin syndrome 11.1
33 hairy ears, y-linked 10.9
34 muller barth menger syndrome 10.9
35 acromegaloid facial appearance syndrome 10.9
36 melanocytic nevus syndrome, congenital 10.9
37 hairy palms and soles 10.9
38 hyperostosis frontalis interna 10.9
39 porphyria variegata 10.9
40 dysosteosclerosis 10.9
41 fascial dystrophy, congenital 10.9
42 multicentric osteolysis, nodulosis, and arthropathy 10.9
43 porphyria, congenital erythropoietic 10.9
44 oliver-mcfarlane syndrome 10.9
45 becker nevus syndrome 10.9
46 cornelia de lange syndrome 3 10.9
47 coffin-siris syndrome 2 10.9
48 coffin-siris syndrome 3 10.9
49 coffin-siris syndrome 4 10.9
50 spastic paraplegia 53, autosomal recessive 10.9

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 (show all 32)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 10.36 SMARCB1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 10.36 SMARCA4
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.36 ABCA5 KCNJ11 SMARCA4 SMARCB1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.36 ARID1A
5 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.36 SMARCB1 SMARCE1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.36 KCNJ11
7 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.36 KCNJ11
8 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.36 KCNJ11
9 Increased shRNA abundance (Z-score > 2) GR00366-A-143 10.36 ABCA5
10 Increased shRNA abundance (Z-score > 2) GR00366-A-156 10.36 ABCA5
11 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.36 ARID1A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-172 10.36 SMARCA4
13 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.36 KCNJ11 SMARCB1 ARID1A SMARCE1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.36 SMARCA4 SMARCE1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-186 10.36 ARID1A
16 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.36 ARID1A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.36 SMARCB1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.36 ABCA5
19 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.36 SMARCE1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-35 10.36 SMARCE1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.36 ARID1A
22 Increased shRNA abundance (Z-score > 2) GR00366-A-45 10.36 KCNJ11
23 Increased shRNA abundance (Z-score > 2) GR00366-A-51 10.36 KCNJ11
24 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.36 ARID1A
25 Increased shRNA abundance (Z-score > 2) GR00366-A-83 10.36 SMARCB1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.36 SMARCA4 SMARCB1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.36 SMARCA4 SMARCE1
28 Increased Nanog expression GR00371-A-1 9.7 ARID1A SMARCA4 SMARCB1 SMARCE1
29 Increased Nanog expression GR00371-A-2 9.7 SMARCE1
30 Increased Nanog expression GR00371-A-3 9.7 ARID1A
31 Increased Nanog expression GR00371-A-5 9.7 ARID1A
32 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 cardiovascular system MP:0005385 10.29 ABCA5 ABCC9 ARID1A ARID1B ARID2 KCNJ11
2 homeostasis/metabolism MP:0005376 10.28 ABCA5 ABCC9 ARID1A ARID1B ARID2 ASXL1
3 mortality/aging MP:0010768 10.28 ABCA5 ABCC9 ARID1A ARID1B ARID2 ASXL1
4 cellular MP:0005384 10.27 ABCC9 ARID1A ARID2 ASXL1 EXT1 KMT2A
5 growth/size/body region MP:0005378 10.27 ABCC9 ARID1A ARID1B ASXL1 EXT1 KCNJ11
6 behavior/neurological MP:0005386 10.26 ABCA5 ARID1B ASXL1 EXT1 KCNJ11 KMT2A
7 immune system MP:0005387 10.22 ARID1A ARID1B ARID2 ASXL1 KCNJ8 KMT2A
8 craniofacial MP:0005382 10.08 ARID1A ASXL1 EXT1 KMT2A NAGLU SMARCA4
9 muscle MP:0005369 9.96 ABCA5 ABCC9 ARID1A ARID1B ARID2 KCNJ11
10 liver/biliary system MP:0005370 9.91 ABCA5 ASXL1 KMT2A NAGLU SMARCA4 SMARCB1
11 neoplasm MP:0002006 9.7 ARID1A ASXL1 EXT1 KMT2A SLC29A3 SMARCA4
12 skeleton MP:0005390 9.56 ARID1A ASXL1 EXT1 KMT2A NAGLU SMARCA4
13 vision/eye MP:0005391 9.23 ABCA5 ARID1A ASXL1 EXT1 NAGLU SMARCA4

Drugs & Therapeutics for Hypertrichosis

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

(show top 50) (show all 57)
# 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
Polyestradiol phosphate Approved Phase 4 28014-46-2
4
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
5 Estradiol valerate Approved, Investigational, Vet_approved Phase 4 979-32-8
6 tannic acid Approved Phase 4
7
Mycophenolic acid Approved Phase 4 24280-93-1 446541
8
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
9
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
10
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492
11
Bimatoprost Approved, Investigational Phase 4,Not Applicable 155206-00-1 5311027
12
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
13 Insulin, Globin Zinc Phase 4,Early Phase 1
14 insulin Phase 4,Early Phase 1
15 Ophthalmic Solutions Phase 4,Phase 2
16 Antihypertensive Agents Phase 4,Phase 3,Phase 2,Not Applicable
17 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1
18 Hormones Phase 4
19 Diuretics, Potassium Sparing Phase 4
20 Trace Elements Phase 4
21 Vitamin B9 Phase 4
22 Vitamins Phase 4
23 Drospirenone and ethinyl estradiol combination Phase 4
24 Contraceptive Agents Phase 4
25 Natriuretic Agents Phase 4
26 Mineralocorticoids Phase 4
27 Estrogens Phase 4
28 Hormone Antagonists Phase 4
29 Estradiol 17 beta-cypionate Phase 4
30 diuretics Phase 4
31 Folate Phase 4
32 Mineralocorticoid Receptor Antagonists Phase 4
33 Micronutrients Phase 4
34 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
35 Vitamin B Complex Phase 4
36 Estradiol 3-benzoate Phase 4
37 Antirheumatic Agents Phase 4
38 Calcineurin Inhibitors Phase 4
39 Antibiotics, Antitubercular Phase 4
40 Cyclosporins Phase 4
41 Immunosuppressive Agents Phase 4
42 Antifungal Agents Phase 4
43 Immunologic Factors Phase 4
44 Anti-Bacterial Agents Phase 4
45 Antitubercular Agents Phase 4
46 Dermatologic Agents Phase 4
47 Anti-Infective Agents Phase 4
48
Minoxidil Approved, Investigational Phase 3 38304-91-5 4201
49 Vasodilator Agents Phase 3
50
Latanoprost Approved, Investigational Phase 2 130209-82-4 5311221 5282380

Interventional clinical trials:

(show all 22)
# 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 The Vienna Prograf and Endothelial Progenitor Cell Study Completed NCT00182559 Phase 4 Ciclosporin;Tacrolimus
4 Efficacy and Safety Study of the Switch From Cyclosporin to Tacrolimus in Renal Transplant Recipients Completed NCT02706678 Phase 4 Tacrolimus sustained-release capsule
5 Topical Bimatoprost Solution 0.03%in Stable Vitiligo Withdrawn NCT01202513 Phase 4 Bimatoprost 0.03% topical ophthalmic solution
6 Comparison of Efficacy, Safety and Tolerability of Two Different 810 nm Diode Lasers for Hair Reduction Completed NCT01212172 Phase 3
7 Efficacy and Safety Study to Compare Two Minoxidil Formulations on Women With Androgenetic Alopecia Completed NCT00958750 Phase 3 minoxidil
8 Effectiveness and Safety of Intense Pulsed Light in Patients With Meibomian Gland Dysfunction Not yet recruiting NCT03518398 Phase 3
9 Photodynamic Therapy for Permanent Hair Removal Unknown status NCT00371930 Phase 1, Phase 2
10 Efficacy and Safety of Topically Applied Medical Therapy for the Treatment of Pediatric Glaucoma Unknown status NCT01527682 Phase 2 Latanoprost, Dorzolamide
11 Investigation of FOL-005 on Clinical Safety and Effect on Hair Growth Completed NCT02793557 Phase 1, Phase 2 FOL-005
12 Optical Clearing of the Skin in Conjunction With Laser Treatments Completed NCT00580736 Phase 1
13 Enhanced Safety Laser Hair Removal System Unknown status NCT00441948 Not Applicable
14 Combined 755nm Alexandrite Laser With Bipolar RF for Hair Reduction Unknown status NCT02465788 Not Applicable
15 Enhanced Safety Aesthetic Laser System Unknown status NCT00495443 Not Applicable
16 Insulin Differences Between African-American and Caucasian Female Adolescents With Polycystic Ovary Syndrome (PCOS) Unknown status NCT02052479 Early Phase 1
17 Efficacy Evaluation of the Activity of a Cosmetic Product (Topical Use) on Hair Regrowth vs Placebo Completed NCT03273504 Not Applicable
18 Eyelash Growth From Application of Bimatoprost in Gel Suspension to the Base of the Eyelashes Completed NCT00773136 Not Applicable Bimatoprost Suspension
19 Study of Immunosuppressive Therapy Toxicities in Kidney Transplant Recipients at Regional or Satellite Community Clinics Completed NCT00902980
20 Development of a Structured Education Programme for Women With Polycystic Ovary Syndrome Completed NCT01462864 Not Applicable
21 Cyclosporin A Therapy in Childhood Nephrotic Syndrome Not yet recruiting NCT03219684
22 A Prospective Multi-Center Study of a Novel Dual-Wavelength Laser for Hair Removal Terminated NCT02536092 Not Applicable

Search NIH Clinical Center for Hypertrichosis

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: hypertrichosis

Genetic Tests for Hypertrichosis

Genetic tests related to Hypertrichosis:

# Genetic test Affiliating Genes
1 Hypertrichosis 29

Anatomical Context for Hypertrichosis

MalaCards organs/tissues related to Hypertrichosis:

41
Skin, Kidney, Pituitary, Colon, Thyroid, Smooth Muscle, Prostate

Publications for Hypertrichosis

Articles related to Hypertrichosis:

(show top 50) (show all 491)
# Title Authors Year
1
The First Reported Case of Fibrous Hamartoma of Infancy with Hyperhidrosis and Hypertrichosis in Korea. ( 29441738 )
2018
2
Hypertrichosis of the pinnae in a patient using panitumumab. ( 29377278 )
2018
3
Localized hypertrichosis of intermammary cleft in monozygotic twins. ( 29573447 )
2018
4
Erratum: Novel mutation in <i>ABBC9</i> gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype [Corrigendum]. ( 29911665 )
2018
5
Agminated segmental plaque-type blue nevus associated with hypertrichosis and soft tissue hypertrophy: Report of a case and review of the literature. ( 29023980 )
2018
6
Angiosarcoma associated with hypertrichosis. ( 29941407 )
2018
7
Novel mutation in <i>ABBC9</i> gene associated with congenital hypertrichosis and acromegaloid facial features, without cardiac or skeletal anomalies: a new phenotype. ( 29615845 )
2018
8
Omeprazole-induced hypertrichosis in two children. ( 29582462 )
2018
9
Peculiar hypertrichosis in a patient affected by Frontal fibrosing alopecia with pseudo "fringe sign". ( 29963802 )
2018
10
Congenital Linear Smooth Muscle Hamartoma with Hypertrichosis: Hair Density on Dermoscopy in Parallel with the Number of Smooth Muscle Bundles. ( 29386851 )
2018
11
RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann-Steiner Syndrome. ( 30014449 )
2018
12
Localized Hypertrichosis at Vaccination Site. ( 30034196 )
2018
13
Plexiform Schwannoma with Localized Hypertrichosis. ( 30065605 )
2018
14
The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B. ( 28323383 )
2017
15
Hypertrichosis lanuginosa acquisita associated with intracranial melanoma: case illustration. ( 28707995 )
2017
16
Gingival fibromatosis with hypertrichosis syndrome: Case series of rare syndrome. ( 28836540 )
2017
17
Minoxidil-Induced Hypertrichosis in a Child with Alopecia Areata. ( 28405563 )
2017
18
Long-term outcome of a patient with paradoxical hypertrichosis after laser epilation. ( 29020484 )
2017
19
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. ( 29100093 )
2017
20
Congenital hypertrichosis lanuginosa. ( 28566560 )
2017
21
First Japanese case of congenital generalized hypertrichosis with a copy number variation on chromosome 17q24. ( 27780627 )
2017
22
FOXN1 Duplication and Congenital Hypertrichosis. ( 28297140 )
2017
23
Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafness. ( 28317252 )
2017
24
Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes. ( 28086997 )
2017
25
Nevoid Hypertrichosis in a Pre-Adolescent Girl. ( 28405561 )
2017
26
Hypertrichosis cubiti, a case report and literature review. ( 26862409 )
2016
27
Minoxidil-induced hypertrichosis in a 4-year-old child. ( 26858049 )
2016
28
A case of hypertrichosis lanuginosa acquisita as a sign of malignancy. ( 27748263 )
2016
29
Postcast hypertrichosis in a patient with frontal fibrosing alopecia. ( 27306714 )
2016
30
The Hypertrichosis of Esau. ( 27168214 )
2016
31
Acquired Localized Hypertrichosis Induced by Rivastigmine. ( 27073702 )
2016
32
Anterior cervical hypertrichosis: a sporadic case. ( 27103865 )
2016
33
Localized Hypertrichosis Following Vaccination in an Infant. ( 27601863 )
2016
34
Minoxidil-induced hypertrichosis in a 4-year-old child. ( 27088933 )
2016
35
Dermatologic Marvels-Hypertrichosis. ( 27168211 )
2016
36
Infantile generalized hypertrichosis caused by topical minoxidil. ( 26982785 )
2016
37
Genomic analysis of gum disease and hypertrichosis in foxes. ( 27323055 )
2016
38
Acquired ectopic hypertrichosis of the tongue. ( 26765128 )
2016
39
Neonatal Cutis Laxa and Hypertrichosis Lanuginosa in Sotos Syndrome. ( 27601358 )
2016
40
An unusual case of hypertrichosis. ( 27727659 )
2016
41
Acquired ectopic hypertrichosis of the tongue. ( 27088954 )
2016
42
Isolated Anterior Cervical Hypertrichosis. ( 27979307 )
2016
43
Afatinib-induced hypertrichosis of the eyelashes and eyebrows. ( 26585846 )
2016
44
De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder. ( 26871653 )
2016
45
Superficial Epidermolytic Ichthyosis-Hypertrichosis as a Clue to Diagnosis. ( 27601192 )
2016
46
Local hypertrichosis: A rare complication of a temporary henna tattoo. ( 28276215 )
2016
47
An unusual chronic cutaneous vaccine reaction; localised hypertrichosis, papular eczema and a subcutaneous nodule. ( 29896838 )
2016
48
Acquired localised hypertrichosis in a Chinese child after cast immobilisation. ( 26238136 )
2015
49
Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes. ( 26242548 )
2015
50
Malignant Down: Hypertrichosis Lanuginosa Acquisita Associated With Endometrial Adenocarcinoma. ( 25882714 )
2015

Variations for Hypertrichosis

ClinVar genetic disease variations for Hypertrichosis:

6 (show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 NAGLU NM_000263.3(NAGLU): c.503_512delGGAGCGGCCA (p.Ser169Argfs) deletion Pathogenic rs483352897 GRCh37 Chromosome 17, 40689535: 40689544
2 NAGLU NM_000263.3(NAGLU): c.503_512delGGAGCGGCCA (p.Ser169Argfs) deletion Pathogenic rs483352897 GRCh38 Chromosome 17, 42537517: 42537526
3 ASXL1 NM_015338.5(ASXL1): c.1210C> T (p.Arg404Ter) single nucleotide variant Pathogenic rs373145711 GRCh37 Chromosome 20, 31021211: 31021211
4 ASXL1 NM_015338.5(ASXL1): c.1210C> T (p.Arg404Ter) single nucleotide variant Pathogenic rs373145711 GRCh38 Chromosome 20, 32433408: 32433408
5 NAGLU NM_000263.3(NAGLU): c.419A> G (p.Tyr140Cys) single nucleotide variant Pathogenic rs753520553 GRCh38 Chromosome 17, 42537433: 42537433
6 NAGLU NM_000263.3(NAGLU): c.419A> G (p.Tyr140Cys) single nucleotide variant Pathogenic rs753520553 GRCh37 Chromosome 17, 40689451: 40689451
7 ARID1B NM_020732.3(ARID1B): c.1612C> T (p.Gln538Ter) single nucleotide variant Pathogenic rs1057518951 GRCh37 Chromosome 6, 157150430: 157150430
8 ARID1B NM_020732.3(ARID1B): c.1612C> T (p.Gln538Ter) single nucleotide variant Pathogenic rs1057518951 GRCh38 Chromosome 6, 156829296: 156829296
9 ARID1B NM_020732.3(ARID1B): c.3444delC (p.Leu1149Cysfs) deletion Likely pathogenic rs1057518918 GRCh37 Chromosome 6, 157505463: 157505463
10 ARID1B NM_020732.3(ARID1B): c.3444delC (p.Leu1149Cysfs) deletion Likely pathogenic rs1057518918 GRCh38 Chromosome 6, 157184329: 157184329
11 KCNJ11 NM_000525.3(KCNJ11): c.185C> G (p.Thr62Arg) single nucleotide variant Likely pathogenic rs1057518775 GRCh38 Chromosome 11, 17387907: 17387907
12 KCNJ11 NM_000525.3(KCNJ11): c.185C> G (p.Thr62Arg) single nucleotide variant Likely pathogenic rs1057518775 GRCh37 Chromosome 11, 17409454: 17409454
13 ARID1B; TMEM242; ZDHHC14 GRCh37/hg19 6q25.3(chr6: 156772218-157870875)x3 copy number gain Uncertain significance GRCh37 Chromosome 6, 156772218: 157870875

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:

# Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 9.88 ABCA5 KCNJ11 KCNJ8 SLC29A3 SMARCB1 VPS37A
2 nuclear chromatin GO:0000790 9.8 ARID1A ASXL1 SMARCA4 SMARCB1 SMARCE1 TRPS1
3 late endosome membrane GO:0031902 9.65 ABCA5 SLC29A3 VPS37A
4 sarcolemma GO:0042383 9.63 ABCC9 KCNJ11 KCNJ8
5 npBAF complex GO:0071564 9.46 ARID1A SMARCA4 SMARCB1 SMARCE1
6 inward rectifying potassium channel GO:0008282 9.43 ABCC9 KCNJ11 KCNJ8
7 SWI/SNF superfamily-type complex GO:0070603 9.37 ARID1A ARID1B
8 SWI/SNF complex GO:0016514 9.35 ARID1A ARID1B SMARCA4 SMARCB1 SMARCE1
9 nBAF complex GO:0071565 9.02 ARID1A ARID1B SMARCA4 SMARCB1 SMARCE1
10 nucleoplasm GO:0005654 10.13 ARID1A ARID1B ARID2 ASXL1 KMT2A SMARCA4

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.8 ARID1A ARID1B NAGLU SMARCA4 SMARCB1 SMARCE1
2 potassium ion transport GO:0006813 9.7 ABCC9 KCNJ11 KCNJ8
3 potassium ion import across plasma membrane GO:1990573 9.61 ABCC9 KCNJ11 KCNJ8
4 potassium ion import GO:0010107 9.58 ABCC9 KCNJ11 KCNJ8
5 ATP-dependent chromatin remodeling GO:0043044 9.56 ARID1A SMARCA4 SMARCB1 SMARCE1
6 chromatin organization GO:0006325 9.56 ARID1A ARID1B ARID2 ASXL1 KMT2A SMARCA4
7 chromatin remodeling GO:0006338 9.55 ARID1A ARID1B SMARCA4 SMARCB1 SMARCE1
8 positive regulation by host of viral transcription GO:0043923 9.51 SMARCA4 SMARCB1
9 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I GO:1901838 9.49 SMARCA4 SMARCB1
10 chromatin-mediated maintenance of transcription GO:0048096 9.48 ARID1A ARID1B
11 RNA polymerase I preinitiation complex assembly GO:0001188 9.46 SMARCA4 SMARCB1
12 positive regulation of glucose mediated signaling pathway GO:1902661 9.37 SMARCA4 SMARCB1
13 nucleosome disassembly GO:0006337 9.02 ARID1A ARID2 SMARCA4 SMARCB1 SMARCE1

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

# Name GO ID Score Top Affiliating Genes
1 nuclear receptor binding GO:0016922 9.48 ARID1A SMARCE1
2 inward rectifier potassium channel activity GO:0005242 9.46 KCNJ11 KCNJ8
3 lysine-acetylated histone binding GO:0070577 9.43 KMT2A SMARCA4
4 nucleosomal DNA binding GO:0031492 9.43 SMARCA4 SMARCB1 SMARCE1
5 Tat protein binding GO:0030957 9.4 SMARCA4 SMARCB1
6 RNA polymerase I CORE element sequence-specific DNA binding GO:0001164 9.32 SMARCA4 SMARCB1
7 RNA polymerase II distal enhancer sequence-specific DNA binding GO:0000980 9.26 KMT2A SMARCA4 SMARCB1 SMARCE1
8 ATP-activated inward rectifier potassium channel activity GO:0015272 9.16 KCNJ11 KCNJ8
9 transcription coactivator activity GO:0003713 9.1 ARID1A ARID1B ASXL1 SMARCA4 SMARCB1 SMARCE1
10 DNA binding GO:0003677 10.02 ARID1A ARID1B ARID2 ASXL1 KMT2A SMARCB1

Sources for Hypertrichosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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