MCID: FLC002
MIFTS: 17

Fleck Retina, Familial Benign

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Fleck Retina, Familial Benign

MalaCards integrated aliases for Fleck Retina, Familial Benign:

Name: Fleck Retina, Familial Benign 57 75 29 13 6 40 73
Frfb 57 75
Familial Benign Flecked Retina 59

Characteristics:

Orphanet epidemiological data:

59
familial benign flecked retina
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
fleck retina, familial benign:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 228980
Orphanet 59 ORPHA363989
UMLS via Orphanet 74 C1856718
ICD10 via Orphanet 34 H35.5
MedGen 42 C1856718
MeSH 44 D012164
SNOMED-CT via HPO 69 258211005 247138002
UMLS 73 C1856718

Summaries for Fleck Retina, Familial Benign

OMIM : 57 Familial benign fleck retina is an autosomal recessive condition associated with a distinctive retinal appearance and no apparent visual or electrophysiologic deficits. Affected individuals are asymptomatic, but fundus examination reveals a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but sparing the foveal region (summary by Sergouniotis et al., 2011). (228980)

MalaCards based summary : Fleck Retina, Familial Benign, is also known as frfb. An important gene associated with Fleck Retina, Familial Benign is PLA2G5 (Phospholipase A2 Group V). Affiliated tissues include retina and eye, and related phenotype is retinal flecks.

UniProtKB/Swiss-Prot : 75 Fleck retina, familial benign: An autosomal recessive condition associated with a distinctive retinal appearance and no apparent visual or electrophysiologic deficits. Affected individuals are asymptomatic, but fundus examination reveals a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but sparing the foveal region.

Related Diseases for Fleck Retina, Familial Benign

Symptoms & Phenotypes for Fleck Retina, Familial Benign

Symptoms via clinical synopsis from OMIM:

57
Eyes:
fleck retina
multiple yellow ocular fundus lesions
macula spared
no night blindness


Clinical features from OMIM:

228980

Human phenotypes related to Fleck Retina, Familial Benign:

32
# Description HPO Frequency HPO Source Accession
1 retinal flecks 32 HP:0012045

Drugs & Therapeutics for Fleck Retina, Familial Benign

Search Clinical Trials , NIH Clinical Center for Fleck Retina, Familial Benign

Genetic Tests for Fleck Retina, Familial Benign

Genetic tests related to Fleck Retina, Familial Benign:

# Genetic test Affiliating Genes
1 Fleck Retina, Familial Benign 29 PLA2G5

Anatomical Context for Fleck Retina, Familial Benign

MalaCards organs/tissues related to Fleck Retina, Familial Benign:

41
Retina, Eye

Publications for Fleck Retina, Familial Benign

Variations for Fleck Retina, Familial Benign

UniProtKB/Swiss-Prot genetic disease variations for Fleck Retina, Familial Benign:

75
# Symbol AA change Variation ID SNP ID
1 PLA2G5 p.Gly45Cys VAR_067343 rs387906795
2 PLA2G5 p.Gly49Ser VAR_067344 rs387906796

ClinVar genetic disease variations for Fleck Retina, Familial Benign:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PLA2G5 NM_000929.2(PLA2G5): c.312T> C (p.His104=) single nucleotide variant Likely benign rs149833360 GRCh37 Chromosome 1, 20417080: 20417080
2 PLA2G5 NM_000929.2(PLA2G5): c.312T> C (p.His104=) single nucleotide variant Likely benign rs149833360 GRCh38 Chromosome 1, 20090587: 20090587

Expression for Fleck Retina, Familial Benign

Search GEO for disease gene expression data for Fleck Retina, Familial Benign.

Pathways for Fleck Retina, Familial Benign

GO Terms for Fleck Retina, Familial Benign

Sources for Fleck Retina, Familial Benign

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....