MCID: HYP077
MIFTS: 50

Hypertrichosis malady

Genetic diseases (common) category
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Summaries for Hypertrichosis

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Wikipedia:65 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 cutanea tarda, and has symptoms including 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 8 20 22 10 62
 
Hypertrichosis Nos 8


Classifications:

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


External Ids:

Disease Ontology8 DOID:420
MeSH34 D006983
NCIt39 C79597

Related Diseases for Hypertrichosis

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

(show top 50)    (show all 219)
idRelated DiseaseScoreTop Affiliating Genes
1porphyria30.5UROD
2porphyria cutanea tarda29.8UROS, UROD
3hepatoerythropoietic porphyria29.6UROD, UROS
4gingival fibromatosis with hypertrichosis10.6
5gingivitis10.5
6hypertrichosis lanuginosa congenita10.5
7ambras syndrome10.4
8cervicitis10.4
9fibromatosis10.4
10mental retardation10.4
11hypertrichosis lanuginosa, acquired10.3
12barber say syndrome10.3
13cervical hypertrichosis peripheral neuropathy10.3
14hairy elbows10.3
15osteochondrodysplasia10.3
16cantu syndrome10.3
17hypertrichosis congenital generalized x-linked10.3
18histiocytosis-lymphadenopathy plus syndrome10.3
19adenocarcinoma10.2
20hypothyroidism10.2
21congenital generalized hypertrichosis, ambras type10.2
22isolated anterior cervical hypertrichosis10.2
23acromegaloid hypertrichosis syndrome10.2
24hypertrichosis universalis congenita10.2
25hypertrichosis-acromegaloid facial appearence syndrome10.2
26hypertrichosis cubiti - short stature10.2
27hypertrichosis, anterior cervical10.1
28laband syndrome10.1
29macrostomia10.1
30cataract - hypertrichosis - intellectual disability10.1
31alopecia10.1
32diabetes mellitus10.1
33hypertrichosis of eyelid10.1
34cerebritis10.1
35dermatomyositis10.1
36ectropion10.1
37neurofibroma10.1
38panniculitis10.1
39polyneuropathy10.1
40scleroderma10.1
41amaurosis congenita cone-rod type with congenital hypertrichosis10.1
42cahmr syndrome10.1
43congenital porphyria10.1
44gorlin chaudhry moss syndrome10.1
45zimmermann-laband syndrome10.1
46amaurosis - hypertrichosis10.1
47cataract10.0
48hepatitis10.0
49obesity10.0
50poems syndrome10.0

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:

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Search NIH Clinical Center for Hypertrichosis

Inferred drug relations via UMLS62/NDF-RT40:

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:

32
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:

36
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 399)
idTitleAuthorsYear
1
Nevoid hypertrichosis, diffuse lipoatrophy and epidermal nevus: a new syndrome? (23452296)
2014
2
Erratum: The Action of Prostaglandins on Ciliary Hypertrichosis: A Case Report of Pachydermoperiostosis: Erratum. (25368483)
2014
3
Acquired localized hypertrichosis induced by internal fixation and plaster cast application. (24003283)
2013
4
Concomitant alopecia areata and hypertrichosis after infliximab therapy: rara avis. (24131912)
2013
5
Generalized hypertrichosis. (23226672)
2012
6
Sequence and structure based assessment of nonsynonymous SNPs in hypertrichosis universalis. (22553388)
2012
7
Hypertrichosis after surgery for cubital tunnel syndrome. (21240491)
2012
8
Localized acquired hypertrichosis associated with the application of a splint. (22606535)
2012
9
A boy with mental retardation, obesity and hypertrichosis caused by a microdeletion of 19p13.12. (20570643)
2010
10
A case of trichomegaly of the eyelashes and facial hypertrichosis induced by erlotinib (Tarceva). (19126063)
2009
11
Efalizumab-induced hypertrichosis. (18363750)
2008
12
Congenital plaque-like glomangioma associated with superficial hypertrichosis. (18489057)
2008
13
Hypertrichosis in a horse with alimentary T-cell lymphoma and pituitary involvement. (17459849)
2007
14
Localized hypertrichosis in a pediatric patient--what is the mechanism for excess hair growth? (17542874)
2007
15
Acquired hypertrichosis lanuginosa: a rare cutaneous paraneoplastic syndrome. (17443005)
2007
16
Mental retardation in a boy with anterior cervical hypertrichosis. (15800907)
2005
17
Hypertrichosis of vellus hairs of the malar region after unilateral treatment with bimatoprost. (15059720)
2004
18
Hypertrichosis surrounding scar of knee replacement surgery. (15097975)
2004
19
Coexistence of acquired localized hypertrichosis and lipoatrophy after lupus panniculitis. (15097972)
2004
20
Hypertrichosis. (12582385)
2003
21
Eyelash hypertrichosis induced by topical latanoprost: 6-month follow-up study. (12390146)
2002
22
Interferon alpha and hypertrichosis of eyelashes. (12150190)
2002
23
Eyelid hypertrichosis associated with latanoprost is reversible. (11820311)
2001
24
Localized acquired hypertrichosis following cast application. (11207975)
2001
25
Hypertrichosis lanuginosa acquisita preceding extraskeletal Ewing's sarcoma. (11298112)
2001
26
Linear scleroderma associated with hypertrichosis in the absence of melorheostosis. (10721844)
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 universalis congenita: a separate entity, or the same disease as gingival fibromatosis? (8415305)
1993
35
Cerebral malformation, seizures, hypertrichosis, distinct face, claw hands, and overlapping fingers in sibs of both sexes. (8266998)
1993
36
A new case of Zimmermann-Laband syndrome with mild mental retardation, asymmetry of limbs, and hypertrichosis. (3228149)
1988
37
Lid agenesis-macrostomia-psychomotor retardation-forehead hypertrichosis--a new syndrome? (3068987)
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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Expression patterns in normal tissues for genes affiliated with Hypertrichosis

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Pathways for genes affiliated with Hypertrichosis

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Pathways related to Hypertrichosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
tetrapyrrole biosynthesis37
heme degradation37
Heme Biosynthesis37
heme biosynthesis37
heme biosynthesis from uroporphyrinogen-III I37
9.0UROD, UROS

Compounds for genes affiliated with Hypertrichosis

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Sources:
44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank
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Compounds related to Hypertrichosis according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
1uroporphyrinogen i44 2410.3UROD, UROS
2Uroporphyrinogen III249.3UROD, UROS
3Coproporphyrinogen III249.3UROS, UROD
4uroporphyrin i449.2UROS, UROD
5hydroxymethylbilane44 2410.2UROD, UROS
6uroporphyrinogen-iii449.2UROS, UROD
7uroporphyrin449.1UROS, UROD
8formyl-coa44 2410.1UROD, UROS
9porphyrin449.0UROD, UROS
10heme28 24 1111.0UROD, UROS
11porphobilinogen44 24 1110.9UROS, UROD
125-aminolevulinic acid44 249.7UROD, UROS

GO Terms for genes affiliated with Hypertrichosis

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Biological processes related to Hypertrichosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heme biosynthetic processGO:0067839.0UROD, UROS
2protoporphyrinogen IX biosynthetic processGO:0067828.9UROD, UROS
3porphyrin-containing compound metabolic processGO:0067788.7UROD, UROS

Products for genes affiliated with Hypertrichosis

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Sources for Hypertrichosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet