Aliases & Classifications for Facial Hypertrichosis

MalaCards integrated aliases for Facial Hypertrichosis:

Name: Facial Hypertrichosis 56 71

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
facial hypertrichosis:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 56 134000
MedGen 41 C1851400
SNOMED-CT via HPO 68 263681008
UMLS 71 C1851400

Summaries for Facial Hypertrichosis

MalaCards based summary : Facial Hypertrichosis is related to hypertrichosis and trichomegaly. Affiliated tissues include liver, and related phenotype is facial hypertrichosis.

More information from OMIM: 134000

Related Diseases for Facial Hypertrichosis

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

# Related Disease Score Top Affiliating Genes
1 hypertrichosis 10.4
2 trichomegaly 10.1
3 alopecia areata 9.9
4 alopecia 9.9
5 segmental odontomaxillary dysplasia 9.9

Graphical network of the top 20 diseases related to Facial Hypertrichosis:



Diseases related to Facial Hypertrichosis

Symptoms & Phenotypes for Facial Hypertrichosis

Human phenotypes related to Facial Hypertrichosis:

31
# Description HPO Frequency HPO Source Accession
1 facial hypertrichosis 31 HP:0002219

Symptoms via clinical synopsis from OMIM:

56
Hair:
facial hypertrichosis

Clinical features from OMIM:

134000

Drugs & Therapeutics for Facial Hypertrichosis

Search Clinical Trials , NIH Clinical Center for Facial Hypertrichosis

Genetic Tests for Facial Hypertrichosis

Anatomical Context for Facial Hypertrichosis

MalaCards organs/tissues related to Facial Hypertrichosis:

40
Liver

Publications for Facial Hypertrichosis

Articles related to Facial Hypertrichosis:

(show all 35)
# Title Authors PMID Year
1
[Porphyria cutanea tarda. Case report]. 61
30534876 2018
2
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. 61
29100093 2017
3
PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. 61
28327570 2017
4
Treatment of chronic telogen effluvium with oral minoxidil: A retrospective study. 61
29167734 2017
5
A Phase III, Multicenter, Parallel-Design Clinical Trial to Compare the Efficacy and Safety of 5% Minoxidil Foam Versus Vehicle in Women With Female Pattern Hair Loss. 61
27391639 2016
6
[Woman with facial hypertrichosis]. 61
24796639 2014
7
Porphyria cutanea tarda in a human immunodeficiency virus-infected patient: A rare scenario in India. 61
24958988 2014
8
Long-pulsed Nd:YAG laser in the treatment of facial hypertrichosis during topical minoxidil therapy. 61
23463948 2013
9
Familial Porphyria Cutanea Tarda 61
23741761 2013
10
Facial hypertrichosis and trichomegaly developing in patients treated with the epidermal growth factor receptor inhibitor erlotinib. 61
20633793 2010
11
Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation. 61
20479301 2010
12
Porphyria cutanea tarda presenting as scleroderma. 61
20486461 2010
13
Familial and sporadic porphyria cutanea tarda: clinical and biochemical features and risk factors in 152 patients. 61
20517178 2010
14
Cutaneous side-effects in patients on long-term treatment with epidermal growth factor receptor inhibitors. 61
19466958 2009
15
A case of trichomegaly of the eyelashes and facial hypertrichosis induced by erlotinib (Tarceva). 61
19126063 2009
16
Segmental odontomaxillary dysplasia presenting with facial hypertrichosis, commissural lip clefting, and hyperlinear palms. 61
18789102 2008
17
Porphyria cutanea tarda in pre-existent lupus erythematosus--is there an association? 61
17973893 2007
18
Facial hypertrichosis induced by Cetuximab, an anti-EGFR monoclonal antibody. 61
17179005 2006
19
1599: first iconographic description of hepatoerythropoietic porphyria. 61
16911388 2006
20
A case of methotrexate embryopathy with holoprosencephaly, expanding the phenotype. 61
16470853 2006
21
[Multifocal nodular fatty infiltration of the liver associated with porphyria and haemochromatosis]. 61
15011131 2004
22
[Sporadic porphyria cutanea tarda: a case report in a Moroccan man]. 61
12910660 2003
23
[Hypertrichosis and hirsutism]. 61
12090123 2002
24
[Current treatment of hypertrichosis]. 61
11757465 2001
25
Temporary hair loss using the long-pulsed alexandrite laser at 20 milliseconds. 61
10694307 2000
26
Hemimaxillofacial dysplasia: a report of two new cases and further delineation of the disorder. 61
9127382 1997
27
Hypertrichosis in a gibbon (Hylobates muelleri). 61
8289221 1993
28
Segmental odontomaxillary dysplasia. Report of eight cases and comparison with hemimaxillofacial dysplasia. 61
2371053 1990
29
Development of porphyria cutanea tarda after treatment with cyclophosphamide. 61
3410226 1988
30
A critical evaluation of a method for treatment of facial hypertrichosis in women. 61
6698269 1984
31
Familial benign chronic intrahepatic cholestasis. 61
6132865 1983
32
The tricho system: hypertrichosis, radiation, and cancer. 61
778495 1976
33
[Radiotherapy of facial hypertrichosis]. 61
14415380 1960
34
[Radiotherapeutic treatment of facial hypertrichosis]. 61
14415379 1959
35
Estrone and alpha-estradiol, applied locally, ineffective in reducing facial hypertrichosis. 61
20262907 1947

Variations for Facial Hypertrichosis

Expression for Facial Hypertrichosis

Search GEO for disease gene expression data for Facial Hypertrichosis.

Pathways for Facial Hypertrichosis

GO Terms for Facial Hypertrichosis

Sources for Facial Hypertrichosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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