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MCID: HYP742
MIFTS: 13

Hyperpigmentation of Eyelids

Categories: Eye diseases, Skin diseases
Genes Tissues Publications Symptoms & Phenotypes
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Aliases & Classifications for Hyperpigmentation of Eyelids

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MalaCards integrated aliases for Hyperpigmentation of Eyelids:

Name: Hyperpigmentation of Eyelids 56 43
Hyperpigmentation of Eyelid 12 15 17
Dyspigmentation of Eyelid 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
hyperpigmentation of eyelids:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Anatomical: Skin diseases Eye diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:10122
OMIM 56 145100
ICD9CM 34 374.52
MeSH 43 C562400
SNOMED-CT 67 41115008
ICD10 32 H02.71
MedGen 41 C0155211
SNOMED-CT via HPO 68 263681008
UMLS 71 C0155211
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Summaries for Hyperpigmentation of Eyelids

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MalaCards based summary : Hyperpigmentation of Eyelids, is also known as hyperpigmentation of eyelid. An important gene associated with Hyperpigmentation of Eyelids is PSMB8 (Proteasome 20S Subunit Beta 8). Affiliated tissues include skin, and related phenotype is hyperpigmentation of eyelids.

More information from OMIM: 145100
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Related Diseases for Hyperpigmentation of Eyelids

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Symptoms & Phenotypes for Hyperpigmentation of Eyelids

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Human phenotypes related to Hyperpigmentation of Eyelids:

31
# Description HPO Frequency HPO Source Accession
1 hyperpigmentation of eyelids 31 HP:0007406

Symptoms via clinical synopsis from OMIM:

56
Skin:
hyperpigmentation of eyelids

Clinical features from OMIM:

145100
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Drugs & Therapeutics for Hyperpigmentation of Eyelids

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Search Clinical Trials , NIH Clinical Center for Hyperpigmentation of Eyelids

Cochrane evidence based reviews: hyperpigmentation of eyelids

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Genetic Tests for Hyperpigmentation of Eyelids

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Anatomical Context for Hyperpigmentation of Eyelids

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MalaCards organs/tissues related to Hyperpigmentation of Eyelids:

40
Skin
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Publications for Hyperpigmentation of Eyelids

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Articles related to Hyperpigmentation of Eyelids:

# Title Authors PMID Year
1
Periorbital hyperpigmentation. An overlooked genetic disorder of pigmentation. 56
5797956 1969
2
[Apropos of familial hyperpigmentation of the eyelid]. 56
13955807 1962
3
Comparison of the latanoprost 0.005%/timolol 0.5% + brinzolamide 1% versus dorzolamide 1%/timolol 0.5% + latanoprost 0.005%: a 12-week, randomized open-label trial. 61
22419858 2012
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Variations for Hyperpigmentation of Eyelids

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Expression for Hyperpigmentation of Eyelids

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Search GEO for disease gene expression data for Hyperpigmentation of Eyelids.
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Pathways for Hyperpigmentation of Eyelids

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GO Terms for Hyperpigmentation of Eyelids

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Sources for Hyperpigmentation of Eyelids

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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