Hypertrichosis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: HYP077 MIFTS: 49	Hypertrichosis Categories: Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs Expand all tables

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Aliases & Classifications for Hypertrichosis

MalaCards integrated aliases for Hypertrichosis:

Name: Hypertrichosis ¹² ²⁹ ⁶ ⁴⁴ ¹⁵ ⁷³

Classifications:

MalaCards categories:
Anatomical: Skin diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the skin and subcutaneous tissue

Disorders of skin appendages

Hypertrichosis

Hypertrichosis, unspecified

Polytrichia

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

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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...

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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:

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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

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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

Drospirenone

Approved

Phase 4

67392-87-4

68873

Estradiol

Approved, Investigational, Vet_approved

Phase 4

50-28-2

5757

Polyestradiol phosphate

Approved

Phase 4

28014-46-2

Ethinyl Estradiol

Approved

Phase 4

57-63-6

5991

Estradiol valerate

Approved, Investigational, Vet_approved

Phase 4

979-32-8

tannic acid

Approved

Phase 4

Mycophenolic acid

Approved

Phase 4

24280-93-1

446541

Miconazole

Approved, Investigational, Vet_approved

Phase 4

22916-47-8

4189

Benzocaine

Approved, Investigational

Phase 4

94-09-7, 1994-09-7

2337

Tacrolimus

Approved, Investigational

Phase 4

104987-11-3

445643 439492

Bimatoprost

Approved, Investigational

Phase 4,Not Applicable

155206-00-1

5311027

Folic Acid

Approved, Nutraceutical, Vet_approved

Phase 4

59-30-3

6037

Insulin, Globin Zinc

Phase 4,Early Phase 1

insulin

Phase 4,Early Phase 1

Ophthalmic Solutions

Phase 4,Phase 2

Antihypertensive Agents

Phase 4,Phase 3,Phase 2,Not Applicable

Pharmaceutical Solutions

Phase 4,Phase 3,Phase 2,Phase 1

Hormones

Phase 4

Diuretics, Potassium Sparing

Phase 4

Trace Elements

Phase 4

Vitamin B9

Phase 4

Vitamins

Phase 4

Drospirenone and ethinyl estradiol combination

Phase 4

Contraceptive Agents

Phase 4

Natriuretic Agents

Phase 4

Mineralocorticoids

Phase 4

Estrogens

Phase 4

Hormone Antagonists

Phase 4

Estradiol 17 beta-cypionate

Phase 4

diuretics

Phase 4

Folate

Phase 4

Mineralocorticoid Receptor Antagonists

Phase 4

Micronutrients

Phase 4

Hormones, Hormone Substitutes, and Hormone Antagonists

Phase 4

Vitamin B Complex

Phase 4

Estradiol 3-benzoate

Phase 4

Antirheumatic Agents

Phase 4

Calcineurin Inhibitors

Phase 4

Antibiotics, Antitubercular

Phase 4

Cyclosporins

Phase 4

Immunosuppressive Agents

Phase 4

Antifungal Agents

Phase 4

Immunologic Factors

Phase 4

Anti-Bacterial Agents

Phase 4

Antitubercular Agents

Phase 4

Dermatologic Agents

Phase 4

Anti-Infective Agents

Phase 4

Minoxidil

Approved, Investigational

Phase 3

38304-91-5

4201

Vasodilator Agents

Phase 3

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 :

eflornithine

eflornithine hydrochloride

Cochrane evidence based reviews: hypertrichosis

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Genetic Tests for Hypertrichosis

Genetic tests related to Hypertrichosis:

#	Genetic test	Affiliating Genes
1	Hypertrichosis ²⁹

Sources

Anatomical Context for Hypertrichosis

MalaCards organs/tissues related to Hypertrichosis:

⁴¹

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

Sources

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 )	You M.H....Kim J.	2018
2	Hypertrichosis of the pinnae in a patient using panitumumab. ( 29377278 )	Baykal C....Babuna Kobaner G.	2018
3	Localized hypertrichosis of intermammary cleft in monozygotic twins. ( 29573447 )	Michalik D....Marks K.	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 )	Hunjan M.K....Tollefson M.	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 )	Grassi S...Rossi A	2018
10	Congenital Linear Smooth Muscle Hamartoma with Hypertrichosis: Hair Density on Dermoscopy in Parallel with the Number of Smooth Muscle Bundles. ( 29386851 )	Son JH...Ko HC	2018
11	RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann-Steiner Syndrome. ( 30014449 )	Mietton L...Bienvenu T	2018
12	Localized Hypertrichosis at Vaccination Site. ( 30034196 )	Poonia K...Bhalla M	2018
13	Plexiform Schwannoma with Localized Hypertrichosis. ( 30065605 )	Kim WI...Ko HC	2018
14	The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B. ( 28323383 )	Zweier M....Rauch A.	2017
15	Hypertrichosis lanuginosa acquisita associated with intracranial melanoma: case illustration. ( 28707995 )	Nguyen K.D....Alleyne C.H.	2017
16	Gingival fibromatosis with hypertrichosis syndrome: Case series of rare syndrome. ( 28836540 )	Balaji P....Balaji S.M.	2017
17	Minoxidil-Induced Hypertrichosis in a Child with Alopecia Areata. ( 28405563 )	Rai A.K.	2017
18	Long-term outcome of a patient with paradoxical hypertrichosis after laser epilation. ( 29020484 )	Honeybrook A....Woodward J.	2017
19	De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. ( 29100093 )	Ehmke N....Kornak U.	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 )	O'Byrne JJ...Reardon W	2017
24	Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes. ( 28086997 )	P?go SPB...Martelli-J?nior H	2017
25	Nevoid Hypertrichosis in a Pre-Adolescent Girl. ( 28405561 )	Daulatabad D...Tanveer N	2017
26	Hypertrichosis cubiti, a case report and literature review. ( 26862409 )	Tng V.E....de Zwaan S.	2016
27	Minoxidil-induced hypertrichosis in a 4-year-old child. ( 26858049 )	Verma S.B.	2016
28	A case of hypertrichosis lanuginosa acquisita as a sign of malignancy. ( 27748263 )	Frank J.A....Foreman R.S.	2016
29	Postcast hypertrichosis in a patient with frontal fibrosing alopecia. ( 27306714 )	Fertig R....Tosti A.	2016
30	The Hypertrichosis of Esau. ( 27168214 )	Phillips C.M.	2016
31	Acquired Localized Hypertrichosis Induced by Rivastigmine. ( 27073702 )	ImbernA^n-Moya A....Gallego-Valdes M.A.	2016
32	Anterior cervical hypertrichosis: a sporadic case. ( 27103865 )	Bostan S....Gizlenti S.	2016
33	Localized Hypertrichosis Following Vaccination in an Infant. ( 27601863 )	Manchanda K....Mohanty S.	2016
34	Minoxidil-induced hypertrichosis in a 4-year-old child. ( 27088933 )	Verma S.B.	2016
35	Dermatologic Marvels-Hypertrichosis. ( 27168211 )	Maranda E.L....Jimenez J.J.	2016
36	Infantile generalized hypertrichosis caused by topical minoxidil. ( 26982785 )	Rampon G....Almeida H.L.	2016
37	Genomic analysis of gum disease and hypertrichosis in foxes. ( 27323055 )	Clark J.A....Marshall H.D.	2016
38	Acquired ectopic hypertrichosis of the tongue. ( 26765128 )	Ashique K.T.	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 )	Gameiro A...Tellechea O	2016
46	Local hypertrichosis: A rare complication of a temporary henna tattoo. ( 28276215 )	Akpolat ND...Aras A	2016
47	An unusual chronic cutaneous vaccine reaction; localised hypertrichosis, papular eczema and a subcutaneous nodule. ( 29896838 )	Bell G...Jarrett P	2016
48	Acquired localised hypertrichosis in a Chinese child after cast immobilisation. ( 26238136 )	Yuen M.W....Chao D.V.	2015
49	Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes. ( 26242548 )	Pavone P....Neri G.	2015
50	Malignant Down: Hypertrichosis Lanuginosa Acquisita Associated With Endometrial Adenocarcinoma. ( 25882714 )	Dalcin D....Mahler R.	2015

Sources

Genes for Hypertrichosis

Genes related to Hypertrichosis (3 elite genes):

(show all 22)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ARID1B	AT-Rich Interaction Domain 1B	Protein Coding	440.91	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	21956720
2	ASXL1	ASXL Transcriptional Regulator 1	Protein Coding	409.77	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)	21956720
3	NAGLU	N-Acetyl-Alpha-Glucosaminidase	Protein Coding	407.11	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
4	SLC29A3	Solute Carrier Family 29 Member 3	Protein Coding	43.73	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications Summaries (show sections)
5	ABCC9	ATP Binding Cassette Subfamily C Member 9	Protein Coding	33.49	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
6	KCNJ8	Potassium Voltage-Gated Channel Subfamily J Member 8	Protein Coding	23.81	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
7	SURF1	SURF1, Cytochrome C Oxidase Assembly Factor	Protein Coding	23.48	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
8	KMT2A	Lysine Methyltransferase 2A	Protein Coding	23	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
9	SMARCE1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily E, Member 1	Protein Coding	22.73	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
10	TRPS1	Transcriptional Repressor GATA Binding 1	Protein Coding	22.63	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
11	SLC25A24	Solute Carrier Family 25 Member 24	Protein Coding	21.94	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
12	VPS37A	VPS37A, ESCRT-I Subunit	Protein Coding	21.86	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
13	SMARCA4	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4	Protein Coding	21.76	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
14	ABCA5	ATP Binding Cassette Subfamily A Member 5	Protein Coding	21.45	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
15	ARID1A	AT-Rich Interaction Domain 1A	Protein Coding	21.34	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
16	KCNJ11	Potassium Voltage-Gated Channel Subfamily J Member 11	Protein Coding	21.33	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
17	SMARCB1	SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1	Protein Coding	21.16	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
18	ARID2	AT-Rich Interaction Domain 2	Protein Coding	21.12	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
19	TWIST2	Twist Family BHLH Transcription Factor 2	Protein Coding	20.72	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
20	EXT1	Exostosin Glycosyltransferase 1	Protein Coding	20.6	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
21	HTC2	Hypertrichosis 2 (Generalized, Congenital)	Genetic Locus	16.5	GeneCards inferred via : Publications Gene name (show sections)
22	LOC106049962	SHH Silencer LOC106049962	Uncategorized	15.77	GeneCards inferred via : Publications Summaries (show sections)

Sources

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

Sources

Expression for Hypertrichosis

Search GEO for disease gene expression data for Hypertrichosis.

Sources

Pathways for Hypertrichosis

Pathways related to Hypertrichosis according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Chromatin organization ⁶⁶ Show member pathways Chromatin modifying enzymes ⁶⁶ HATs acetylate histones ⁶⁶	12.35	ARID1A ARID1B ARID2 KMT2A SMARCA4 SMARCB1
2	Gastric cancer ³⁷ Show member pathways Breast cancer ³⁷ Hepatocellular carcinoma ³⁷	12.3	ARID1A ARID1B ARID2 SMARCA4 SMARCB1 SMARCE1
3	Chromatin Regulation / Acetylation ⁴	12.06	ARID1A ARID2 KMT2A SMARCA4 SMARCB1
4	AMPK Enzyme Complex Pathway ⁶⁴ Show member pathways Chromatin Remodeling ⁶⁴ mitochondrial L-carnitine shuttle ¹	11.86	ARID1A SMARCA4 SMARCB1 SMARCE1
5	Potassium Channels ⁶⁶ Show member pathways HCN channels ⁶⁶ Voltage gated Potassium channels ⁶⁶	11.78	ABCC9 KCNJ11 KCNJ8
6	Inwardly rectifying K+ channels ⁶⁶ Show member pathways Activation of G protein gated Potassium channels ⁶⁶ ATP sensitive Potassium channels ⁶⁶ Defective ABCC8 can cause hypoglycemias and hyperglycemias ⁶⁶ G protein gated Potassium channels ⁶⁶ Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits ⁶⁶ Potassium transport channels ⁶⁶	11.64	ABCC9 KCNJ11 KCNJ8
7	Antiarrhythmic Pathway, Pharmacodynamics ⁶¹	11.29	ABCC9 KCNJ11 KCNJ8
8	Transcription Ligand-dependent activation of the ESR1/SP pathway ²² Show member pathways Development Ligand-dependent activation of the ESR1/AP-1 pathway ²²	10.87	ARID1A ARID1B SMARCA4 SMARCB1 SMARCE1

Sources

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

Sources for Hypertrichosis

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Hypertrichosis

Aliases & Classifications for Hypertrichosis

MalaCards integrated aliases for Hypertrichosis:

Classifications:

External Ids:

Summaries for Hypertrichosis

Related Diseases for Hypertrichosis

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

Graphical network of the top 20 diseases related to Hypertrichosis:

Symptoms & Phenotypes for Hypertrichosis

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

MGI Mouse Phenotypes related to Hypertrichosis:

Drugs & Therapeutics for Hypertrichosis

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

Interventional clinical trials:

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

Cochrane evidence based reviews: hypertrichosis

Genetic Tests for Hypertrichosis

Genetic tests related to Hypertrichosis:

Anatomical Context for Hypertrichosis

MalaCards organs/tissues related to Hypertrichosis:

Publications for Hypertrichosis

Articles related to Hypertrichosis:

Genes for Hypertrichosis

Genes related to Hypertrichosis (3 elite genes):

Variations for Hypertrichosis

ClinVar genetic disease variations for Hypertrichosis:

Expression for Hypertrichosis

Pathways for Hypertrichosis

Pathways related to Hypertrichosis according to GeneCards Suite gene sharing:

GO Terms for Hypertrichosis

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

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

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

Sources for Hypertrichosis

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