MCID: IRS010
MIFTS: 10

Iris Pigment Epithelium Anomalies

Aliases & Classifications for Iris Pigment Epithelium Anomalies

MalaCards integrated aliases for Iris Pigment Epithelium Anomalies:

Name: Iris Pigment Epithelium Anomalies 56 71
Ruffles and Cysts of Iris Pigment Epithelium 56
Cysts of Iris Pigment Epithelium 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
iris pigment epithelium anomalies:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 56 601616
MedGen 41 C1866608
SNOMED-CT via HPO 68 263681008 37761009
UMLS 71 C1866608

Summaries for Iris Pigment Epithelium Anomalies

MalaCards based summary : Iris Pigment Epithelium Anomalies, also known as ruffles and cysts of iris pigment epithelium, is related to malignant iris melanoma. Related phenotype is iris cyst.

More information from OMIM: 601616

Related Diseases for Iris Pigment Epithelium Anomalies

Diseases related to Iris Pigment Epithelium Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 malignant iris melanoma 10.1

Symptoms & Phenotypes for Iris Pigment Epithelium Anomalies

Human phenotypes related to Iris Pigment Epithelium Anomalies:

31
# Description HPO Frequency HPO Source Accession
1 iris cyst 31 HP:0011523

Symptoms via clinical synopsis from OMIM:

56
Eyes:
anomalies of iris epithelium
cysts of iris epithelium
peripupillary iris ruffles

Clinical features from OMIM:

601616

Drugs & Therapeutics for Iris Pigment Epithelium Anomalies

Search Clinical Trials , NIH Clinical Center for Iris Pigment Epithelium Anomalies

Genetic Tests for Iris Pigment Epithelium Anomalies

Anatomical Context for Iris Pigment Epithelium Anomalies

Publications for Iris Pigment Epithelium Anomalies

Articles related to Iris Pigment Epithelium Anomalies:

# Title Authors PMID Year
1
Recurring transitory blindness caused by primary marginal pigment epithelial iris cysts. 56
11860982 2002
2
Autosomal-dominant anomalies of the iris pigment epithelium. 56
8874445 1996
3
Iris cysts in three generations conveyed by means of a genetic process connected with sex. 56
4069592 1985

Variations for Iris Pigment Epithelium Anomalies

Expression for Iris Pigment Epithelium Anomalies

Search GEO for disease gene expression data for Iris Pigment Epithelium Anomalies.

Pathways for Iris Pigment Epithelium Anomalies

GO Terms for Iris Pigment Epithelium Anomalies

Sources for Iris Pigment Epithelium Anomalies

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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