MCID: MLT117
MIFTS: 9

Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus

MalaCards integrated aliases for Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus:

Name: Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus 58
Multifocal Pattern Dystrophy Simulating Stargardt Disease 58

Characteristics:

Orphanet epidemiological data:

58
multifocal pattern dystrophy simulating fundus flavimaculatus
Inheritance: Autosomal dominant; Age of onset: Adult; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 58  
Rare eye diseases


External Ids:

ICD10 via Orphanet 33 H35.5
Orphanet 58 ORPHA99003

Summaries for Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus

MalaCards based summary : Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus, also known as multifocal pattern dystrophy simulating stargardt disease, is related to pattern dystrophy. An important gene associated with Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus is PRPH2 (Peripherin 2). Affiliated tissues include eye and retina.

Related Diseases for Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus

Diseases related to Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pattern dystrophy 10.3

Symptoms & Phenotypes for Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus

Drugs & Therapeutics for Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus

Search Clinical Trials , NIH Clinical Center for Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus

Genetic Tests for Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus

Anatomical Context for Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus

MalaCards organs/tissues related to Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus:

40
Eye, Retina

Publications for Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus

Articles related to Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus:

# Title Authors PMID Year
1
PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation. 61
32660024 2020
2
Multimodal imaging in multifocal pattern dystrophy simulating fundus flavimaculatus. 61
27380982 2016
3
Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus. 61
17504850 2007

Variations for Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus

Expression for Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus

Search GEO for disease gene expression data for Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus.

Pathways for Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus

GO Terms for Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus

Sources for Multifocal Pattern Dystrophy Simulating Fundus Flavimaculatus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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