MCID: HYP077
MIFTS: 43

Hypertrichosis malady

Skin category

Summaries for Hypertrichosis

Sources:
64Wikipedia, 33MalaCards
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Wikipedia:64 Hypertrichosis (also called Ambras syndrome) is an abnormal amount of hair growth over the body;... more...

MalaCards: Hypertrichosis, also known as hypertrichosis nos, is related to porphyria cutanea tarda and congenital porphyria. An important gene associated with Hypertrichosis is SLC29A3 (solute carrier family 29 (equilibrative nucleoside transporter), member 3), and among its related pathways are Glucuronidation and Heme Biosynthesis. The drugs eflornithine and eflornithine hydrochloride and the compounds uroporphyrinogen i and hydroxymethylbilane have been mentioned in the context of this disorder.

Aliases & Classifications for Hypertrichosis

Sources:
8Disease Ontology, 20GeneTests, 22GTR, 10DISEASES, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Skin


Aliases & Descriptions:

hypertrichosis 8 20 22 10 61
hypertrichosis nos 8


External Ids:

Disease Ontology8 DOID:420
NCIt40 C79597
MeSH35 D006983
ICD1025 L68, L68.9

Related Diseases for Hypertrichosis

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Hypertrichosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 202)
idRelated DiseaseScoreTop Affiliating Genes
1porphyria cutanea tarda30.1UROS, UROD, PPOX
2congenital porphyria30.0UROS, UROD
3poems syndrome29.9IGLV1-44, IGLV1-40
4hepatoerythropoietic porphyria29.7UROD, UROS
5hypertrichosis lanuginosa, acquired10.5
6hypertrichosis lanuginosa congenita10.5
7gingival fibromatosis with hypertrichosis10.4
8hypertrichosis, anterior cervical10.4
9mental retardation10.4
10ambras syndrome10.4
11fibromatosis10.4
12fibromatosis, gingival10.3
13hypertrichosis, congenital generalized10.3
14cervical hypertrichosis peripheral neuropathy10.3
15hypertrichosis universalis congenita10.3
16hypertrichosis congenital generalized x-linked10.2
17hairy elbows10.2
18adenocarcinoma10.2
19acromegaloid hypertrichosis syndrome10.2
20barber say syndrome10.2
21cantu syndrome10.2
22hypertrichosis cubiti - short stature10.2
23isolated anterior cervical hypertrichosis10.2
24n syndrome10.2
25cant� syndrome10.2
26cahmr syndrome10.1
27laband syndrome10.1
28mental retardation epilepsy10.1
29histiocytosis-lymphadenopathy plus syndrome10.1
30macrostomia10.1
31amaurosis - hypertrichosis10.1
32congenital generalized hypertrichosis, ambras type10.1
33cataract - hypertrichosis - intellectual deficit10.1
34alopecia10.0
35amaurosis congenita cone-rod type with congenital hypertrichosis10.0
36gorlin chaudhry moss syndrome10.0
37linear scleroderma10.0
38zimmermann-laband syndrome10.0
39mucopolysaccharidosis ih10.0
40cutaneous porphyria10.0UROD, UROS
41papilledema10.0IGLV1-44, IGLV1-40
42variegate porphyria10.0UROD, PPOX
43hereditary coproporphyria10.0PPOX, UROD, UROS
44porphyria10.0UROD, PPOX
45acute porphyria10.0PPOX, UROD
46acute intermittent porphyria10.0PPOX, UROD
47erythropoietic protoporphyria10.0UROS, PPOX
48metabolic syndrome x10.0PPOX, UROD, UROS
49congenital hypothyroidism10.0
50donohue syndrome10.0

Graphical network of the top 20 diseases related to Hypertrichosis:



Diseases related to hypertrichosis

Clinical Features for Hypertrichosis

Drugs & Therapeutics for Hypertrichosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Hypertrichosis

Drug clinical trials:

Search ClinicalTrials for Hypertrichosis

Search NIH Clinical Center for Hypertrichosis

Search CenterWatch for Hypertrichosis

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Hypertrichosis

Sources:
20GeneTests, 22GTR
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Genetic tests related to Hypertrichosis:

id Genetic test Affiliating Genes
1 Hypertrichosis20 22

Anatomical Context for Hypertrichosis

Animal Models for Hypertrichosis or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Hypertrichosis

Sources:
51PubMed
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Articles related to Hypertrichosis:

(show top 50)    (show all 393)
idTitleAuthorsYear
1
Concomitant alopecia areata and hypertrichosis after infliximab therapy: rara avis. (24131912)
2013
2
Hypertrichosis in presymptomatic mitochondrial disease. (23408181)
2013
3
Hypertrichosis, gingival hypertrophia, epilepsy and mental retardation: a separate entity? (23096519)
2012
4
A case of microdeletion of 19p13 with intellectual disability, hypertrichosis, synophrys, and protruding front teeth. (22750323)
2012
5
Anterior cervical hypertrichosis with associated developmental delay and learning difficulties in two sisters. (22900798)
2012
6
Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndrome. (21626675)
2011
7
Congenital hypertrichosis lanuginosa in a father and son. (21690547)
2011
8
Paradoxical hypertrichosis after laser therapy: a review. (20100274)
2010
9
Hypertrichosis cubiti: another case of a well-recognized but under-reported entity. (20609159)
2010
10
Neuroimages. Hypertrichosis in alopecia universalis and complex regional pain syndrome. (20956794)
2010
11
Hypertrichosis, hyperkeratosis and mental retardation syndrome: further delineation of phenotype. (19305191)
2009
12
Efalizumab-induced hypertrichosis. (18363750)
2008
13
Hypertrichosis lanuginosa congenita. (18789097)
2008
14
Sporadic nonsyndromal anterior cervical hypertrichosis: case report and review of the literature. (17973879)
2007
15
Facial hypertrichosis induced by Cetuximab, an anti-EGFR monoclonal antibody. (17179005)
2006
16
Trichophyia and hypertrichosis: a side effect of foam sclerotherapy. (17145449)
2006
17
Mental retardation in a boy with anterior cervical hypertrichosis. (15800907)
2005
18
Hypertrichosis, hyperkeratosis, abnormal corpus callosum, mental retardation and dysmorphic features in three unrelated females. (15057123)
2004
19
Successful and safe treatment of hypertrichosis by high-intensity pulses of noncoherent light in a patient with hepatoerythropoietic porphyria. (15258814)
2004
20
Hypertrichosis of the eyelashes caused by bimatoprost. (15577756)
2004
21
Hereditary gingival fibromatosis (HGF) with hypertrichosis is unlinked to the HGF1 and HGF2 loci. (12503114)
2003
22
Growth hormone deficiency, situs inversus, hypertrichosis and brachydactyly. (12880132)
2003
23
Hirsutism and hypertrichosis in adults: investigations and treatment]. (12223963)
2002
24
Infrapatellar hypertrichosis: an unusual cutaneous manifestation of juvenile dermatomyositis. (11994176)
2002
25
Congenital generalized terminal hypertrichosis with gingival hyperplasia. (11994171)
2002
26
Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion. (12457403)
2002
27
Nevoid hypertrichosis and hypomelanosis. (12459534)
2002
28
Eyelid hypertrichosis associated with latanoprost is reversible. (11820311)
2001
29
What syndrome is this? Gingival fibromatosis-hypertrichosis syndrome. (11841646)
2001
30
Effective treatment of hypertrichosis with pulsed light: a report of two cases. (9262770)
1997
31
Laser hair removal in a patient with hypertrichosis lanuginosa congenita. (9256919)
1997
32
Macrostomia, hypertelorism, atrophic skin, severe hypertrichosis without ectropion: milder form of Barber-Say Syndrome. (9415700)
1997
33
Anterior cervical hypertrichosis: a dominantly inherited isolated defect. (7762594)
1995
34
Hypertrichosis and algodystrophy: an hypothesis to explain this uncommon association. (8011506)
1994
35
Cerebral malformation, seizures, hypertrichosis, distinct face, claw hands, and overlapping fingers in sibs of both sexes. (8266998)
1993
36
Lid agenesis-macrostomia-psychomotor retardation-forehead hypertrichosis--a new syndrome? (3068987)
1988
37
Hypertrichosis of the eyelashes in acquired immunodeficiency syndrome. (3688901)
1987
38
A critical evaluation of a method for treatment of facial hypertrichosis in women. (6698269)
1984
39
Milia, increased nail growth and hypertrichosis following treatment with benoxaprofen. (6864726)
1983
40
A syndrome of midface retraction, multiple radiological anomalies, renal malformations and hypertrichosis. (7166317)
1982
41
Acquired hypertrichosis lanuginosa. (7160950)
1982
42
A further case of a new syndrome including midface retraction, hypertrichosis, and skeletal anomalies. (537022)
1979
43
The age of onset of hypertrichosis pinnae auris among Egyptians. (6078966)
1967
44
Hypertrichosis lanuginosa and anaplastic carcinoma. (5923455)
1966
45
Hypertrichosis. (5889935)
1965
46
HYPERTRICHOSIS IN A BRAIN DAMAGED CHILD. (14046422)
1963
47
Temporary acquired hypertrichosis following traumatic shock. (14349392)
1955
48
Hypertrichosis: a physiologic approach to etiology and treatment. (13208517)
1954
49
Dermatomyositis associated with hypertrichosis. (18886279)
1948
50
Hypertrichosis with Mental Changes: Effect of Adrenalectomy. (20786075)
1945

Genetic Variations for Hypertrichosis

Expression for genes affiliated with Hypertrichosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hypertrichosis

Search GEO for disease gene expression data for Hypertrichosis.

Pathways for genes affiliated with Hypertrichosis

Sources:
38NCBI BioSystems Database, 30KEGG, 54Reactome
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Pathways related to Hypertrichosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.1PPOX, UROD, UROS
2
Hide members
10.1PPOX, UROD, UROS

Compounds for genes affiliated with Hypertrichosis

Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR
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Compounds related to Hypertrichosis according to GeneCards/GeneDecks:

(show all 13)
idCompoundScoreTop Affiliating Genes
1uroporphyrinogen i45 2411.4UROS, UROD
2hydroxymethylbilane45 2411.4PPOX, UROD, UROS
3uroporphyrinogen-iii4510.4PPOX, UROD, UROS
4formyl-coa45 2411.3UROS, UROD, PPOX
5uroporphyrin i4510.3UROD, UROS
6porphyrin4510.3PPOX, UROD, UROS
7porphobilinogen45 11 2412.3PPOX, UROD, UROS
8uroporphyrin4510.3UROS, UROD
95-aminolevulinic acid45 2411.3PPOX, UROD, UROS
10protoporphyrinogen4510.2UROD, PPOX
11protoporphyrin ix45 11 2412.1PPOX, UROD
12heme29 11 2412.1PPOX, UROD, UROS
13haem459.9PPOX, UROD

GO Terms for genes affiliated with Hypertrichosis

Sources:
16Gene Ontology
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Biological processes related to Hypertrichosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heme biosynthetic processGO:00678310.1PPOX, UROD, UROS
2protoporphyrinogen IX biosynthetic processGO:00678210.0PPOX, UROD, UROS
3porphyrin-containing compound metabolic processGO:0067789.8PPOX, UROD, UROS

Products for genes affiliated with Hypertrichosis

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  • Lysates
  • Antibodies

Sources for Hypertrichosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet