MCID: HYP077
MIFTS: 47

Hypertrichosis malady

Genetic diseases (common), Skin diseases categories

Summaries for Hypertrichosis

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Wikipedia:63 Hypertrichosis (also called Ambras syndrome) is an abnormal amount of hair growth over the body;... more...

MalaCards based summary: Hypertrichosis, also known as hypertrichosis nos, is related to porphyria and porphyria, congenital erythropoietic, and has symptoms including delayed eruption of teeth, hypertrichosis and short stature. An important gene associated with Hypertrichosis is SLC29A3 (solute carrier family 29 (equilibrative nucleoside transporter), member 3), and among its related pathways is Metabolism of porphyrins. The drugs eflornithine and eflornithine hydrochloride and the compounds uroporphyrinogen i and Uroporphyrinogen III have been mentioned in the context of this disorder. Affiliated tissues include skin, pituitary and brain, and related mouse phenotype mortality/aging.

Aliases & Classifications for Hypertrichosis

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Hypertrichosis, Aliases & Descriptions:

Name: Hypertrichosis 9 20 11 22 60
 
Hypertrichosis Nos 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Skin diseases


External Ids:

Disease Ontology9 DOID:420
MeSH33 D006983
NCIt38 C79597
ICD1025 L68

Related Diseases for Hypertrichosis

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

(show top 50)    (show all 224)
idRelated DiseaseScoreTop Affiliating Genes
1porphyria30.5UROD
2porphyria, congenital erythropoietic30.0UROD, UROS
3porphyria cutanea tarda29.9UROS, UROD
4hypertrichosis terminalis, generalized, with or without gingival hyperplasia10.6
5gingivitis10.5
6hypertrichosis lanuginosa congenita10.4
7hypertrichosis universalis congenita, ambras type10.4
8cervicitis10.4
9mental retardation10.4
10fibromatosis10.4
11hairy elbows10.4
12hypertrichosis lanuginosa, acquired10.4
13acromegaloid hypertrichosis syndrome10.4
14cervical hypertrichosis peripheral neuropathy10.4
15hypertrichosis, anterior cervical10.4
16barber say syndrome10.3
17cahmr syndrome10.3
18hypertrichosis congenital generalized x-linked10.3
19hypertrichotic osteochondrodysplasia10.3
20adenocarcinoma10.3
21osteochondrodysplasia10.3
22hypothyroidism10.2
23gorlin chaudhry moss syndrome10.2
24hypertrichosis universalis congenita10.2
25trichomegaly10.2
26histiocytosis-lymphadenopathy plus syndrome10.2
27zimmermann-laband syndrome10.1
28coffin-siris syndrome10.1
29leprechaunism10.1
30hypertrichosis of eyelid10.1
31dermatomyositis10.1
32amaurosis congenita cone-rod type with congenital hypertrichosis10.1
33ramon syndrome10.1
34rabson-mendenhall syndrome10.1
35mucopolysaccharidosis ii10.1
36alopecia10.1
37cerebritis10.1
38cushing's syndrome10.1
39poems syndrome10.1
40ectropion10.1
41neurofibroma10.1
42panniculitis10.1
43polyneuropathy10.1
44scleroderma10.1
45dahlberg borer newcomer syndrome10.1
46giant congenital nevus10.1
47hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features10.1
48amaurosis - hypertrichosis10.1
49schwartz-jampel syndrome, type 110.0
50erythrokeratodermia variabilis et progressiva10.0

Graphical network of the top 20 diseases related to Hypertrichosis:



Diseases related to hypertrichosis

Symptoms for Hypertrichosis

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HPO human phenotypes related to Hypertrichosis:

(show all 10)
id Description Frequency HPO Source Accession
1 delayed eruption of teeth hallmark (90%) HP:0000684
2 hypertrichosis hallmark (90%) HP:0000998
3 short stature hallmark (90%) HP:0004322
4 abnormality of female external genitalia typical (50%) HP:0000055
5 coarse facial features typical (50%) HP:0000280
6 anteverted nares typical (50%) HP:0000463
7 long palpebral fissure typical (50%) HP:0000637
8 supernumerary nipples typical (50%) HP:0002558
9 generalized hypopigmentation typical (50%) HP:0007513
10 gingival overgrowth occasional (7.5%) HP:0000212

Drugs & Therapeutics for Hypertrichosis

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Drug clinical trials:

Search ClinicalTrials for Hypertrichosis

Search NIH Clinical Center for Hypertrichosis

Inferred drug relations via UMLS60/NDF-RT39:

Genetic Tests for Hypertrichosis

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Genetic tests related to Hypertrichosis:

id Genetic test Affiliating Genes
1 Hypertrichosis20 22

Anatomical Context for Hypertrichosis

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MalaCards organs/tissues related to Hypertrichosis:

31
Skin, Pituitary, Brain, Colon, Kidney, Ovary, Eye, Smooth muscle, Lung, Thyroid, Breast, Prostate, T cells

Animal Models for Hypertrichosis or affiliated genes

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MGI Mouse Phenotypes related to Hypertrichosis:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.6SLC29A3, UROD, UROS, SOX3, SURF1

Publications for Hypertrichosis

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Articles related to Hypertrichosis:

(show top 50)    (show all 410)
idTitleAuthorsYear
1
Malignant Down: Hypertrichosis Lanuginosa Acquisita Associated With Endometrial Adenocarcinoma. (25882714)
2015
2
Nevoid hypertrichosis, diffuse lipoatrophy and epidermal nevus: a new syndrome? (23452296)
2014
3
Erratum: The Action of Prostaglandins on Ciliary Hypertrichosis: A Case Report of Pachydermoperiostosis: Erratum. (25368483)
2014
4
Acquired localized hypertrichosis induced by internal fixation and plaster cast application. (24003283)
2013
5
Concomitant alopecia areata and hypertrichosis after infliximab therapy: rara avis. (24131912)
2013
6
Generalized hypertrichosis. (23226672)
2012
7
Sequence and structure based assessment of nonsynonymous SNPs in hypertrichosis universalis. (22553388)
2012
8
Hypertrichosis after surgery for cubital tunnel syndrome. (21240491)
2012
9
Localized acquired hypertrichosis associated with the application of a splint. (22606535)
2012
10
A boy with mental retardation, obesity and hypertrichosis caused by a microdeletion of 19p13.12. (20570643)
2010
11
A case of trichomegaly of the eyelashes and facial hypertrichosis induced by erlotinib (Tarceva). (19126063)
2009
12
Efalizumab-induced hypertrichosis. (18363750)
2008
13
Congenital plaque-like glomangioma associated with superficial hypertrichosis. (18489057)
2008
14
Hypertrichosis in a horse with alimentary T-cell lymphoma and pituitary involvement. (17459849)
2007
15
Localized hypertrichosis in a pediatric patient--what is the mechanism for excess hair growth? (17542874)
2007
16
Acquired hypertrichosis lanuginosa: a rare cutaneous paraneoplastic syndrome. (17443005)
2007
17
Mental retardation in a boy with anterior cervical hypertrichosis. (15800907)
2005
18
Hypertrichosis of vellus hairs of the malar region after unilateral treatment with bimatoprost. (15059720)
2004
19
Hypertrichosis surrounding scar of knee replacement surgery. (15097975)
2004
20
Coexistence of acquired localized hypertrichosis and lipoatrophy after lupus panniculitis. (15097972)
2004
21
Hypertrichosis. (12582385)
2003
22
Eyelash hypertrichosis induced by topical latanoprost: 6-month follow-up study. (12390146)
2002
23
Eyelid hypertrichosis associated with latanoprost is reversible. (11820311)
2001
24
Localized acquired hypertrichosis following cast application. (11207975)
2001
25
Linear scleroderma associated with hypertrichosis in the absence of melorheostosis. (10721844)
2000
26
An unusual adverse effect of interferon: hypertrichosis of the eyelashes. (10926205)
2000
27
Hypertrichosis due to porphyria cutanea tarda associated with blastic transformation of myelofibrosis. (10583184)
1999
28
Nevoid hypertrichosis with multiple patches of hair that underwent almost complete spontaneous resolution. (9788560)
1998
29
Elective conversion of patients from cyclosporine to tacrolimus for hypertrichosis. (9636505)
1998
30
Diffuse hypertrichosis during treatment with 5% topical minoxidil. (9039309)
1997
31
A case of multiple nevoid hypertrichosis. (9198325)
1997
32
Pigmented plaque with hypertrichosis on the scalp of an infant. (8893248)
1996
33
Childhood hypertrichosis: diagnosis and management. (7618920)
1995
34
Hypertrichosis in juvenile dermatomyositis. (8034810)
1994
35
Hypertrichosis universalis congenita: a separate entity, or the same disease as gingival fibromatosis? (8415305)
1993
36
Cerebral malformation, seizures, hypertrichosis, distinct face, claw hands, and overlapping fingers in sibs of both sexes. (8266998)
1993
37
A new case of Zimmermann-Laband syndrome with mild mental retardation, asymmetry of limbs, and hypertrichosis. (3228149)
1988
38
Hypertrichosis lanuginosa acquisita and adenocarcinoma of the colon. (2962566)
1987
39
Congenital hypertrichosis lanuginosa: neonatal shaving. (3619483)
1987
40
Hypertrichosis lanuginosa acquisita associated with adenocarcinoma of the lung. (7074459)
1982
41
Acquired localized hypertrichosis. (7212723)
1981
42
A further case of a new syndrome including midface retraction, hypertrichosis, and skeletal anomalies. (537022)
1979
43
Acquired hypertrichosis lanuginosa as a sign of internal malignant disease. (647593)
1978
44
Acquired hypertrichosis lanuginosa. (640103)
1978
45
Hypertrichosis pinnae auris in Coastal Andhra population. (4796359)
1973
46
Hypertrichosis of the ear rims. Two remarks on the two-gene hypothesis. (4669458)
1972
47
A contribution to the genetics of hypertrichosis of the ear rims. (5512123)
1970
48
Hypertrichosis lanuginosa as a sign of internal malignancy. (5353938)
1969
49
A contribution to the genetics of hypertrichosis of the ear rims. (13746524)
1961
50
Infantilism and Hypertrichosis. (19986665)
1928

Variations for Hypertrichosis

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Expression for genes affiliated with Hypertrichosis

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Search GEO for disease gene expression data for Hypertrichosis.

Pathways for genes affiliated with Hypertrichosis

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Pathways related to Hypertrichosis according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
tetrapyrrole biosynthesis36
heme degradation36
Heme Biosynthesis36
heme biosynthesis36
heme biosynthesis from uroporphyrinogen-III I36
9.0UROD, UROS

Compounds for genes affiliated with Hypertrichosis

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Sources:
43Novoseek, 24HMDB, 28IUPHAR, 12DrugBank
See all sources

Compounds related to Hypertrichosis according to GeneCards Suite gene sharing:

(show all 12)
idCompoundScoreTop Affiliating Genes
1uroporphyrinogen i43 2410.3UROD, UROS
2Uroporphyrinogen III249.3UROD, UROS
3Coproporphyrinogen III249.3UROS, UROD
4uroporphyrin i439.2UROS, UROD
5hydroxymethylbilane43 2410.2UROD, UROS
6uroporphyrinogen-iii439.2UROS, UROD
7uroporphyrin439.1UROS, UROD
8formyl-coa43 2410.1UROD, UROS
9porphyrin439.0UROD, UROS
10heme28 24 1211.0UROD, UROS
11porphobilinogen43 24 1210.9UROS, UROD
125-aminolevulinic acid43 249.7UROD, UROS

GO Terms for genes affiliated with Hypertrichosis

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

idNameGO IDScoreTop Affiliating Genes
1heme biosynthetic processGO:00067839.0UROD, UROS
2protoporphyrinogen IX biosynthetic processGO:00067828.9UROD, UROS
3porphyrin-containing compound metabolic processGO:00067788.7UROD, UROS

Products for genes affiliated with Hypertrichosis

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  • Kits and Assays

Sources for Hypertrichosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet