FRFB
MCID: FLC002
MIFTS: 41

Fleck Retina, Familial Benign (FRFB)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Fleck Retina, Familial Benign

MalaCards integrated aliases for Fleck Retina, Familial Benign:

Name: Fleck Retina, Familial Benign 57 72 36 29 13 6 44 39 70
Frfb 57 12 72
Familial Benign Fleck Retina 12 15
Familial Benign Flecked Retina 58

Characteristics:

Orphanet epidemiological data:

58
familial benign flecked retina
Inheritance: Autosomal recessive;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
fleck retina, familial benign:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0111677
OMIM® 57 228980
KEGG 36 H02440
SNOMED-CT 67 770434009
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 71 C1856718
Orphanet 58 ORPHA363989
MedGen 41 C1856718
SNOMED-CT via HPO 68 247138002 258211005 65956007
UMLS 70 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) (Updated 05-Apr-2021)

MalaCards based summary : Fleck Retina, Familial Benign, also known as frfb, is related to cerebellar ataxia type 42 and sinoatrial node disease. An important gene associated with Fleck Retina, Familial Benign is PLA2G5 (Phospholipase A2 Group V), and among its related pathways/superpathways are Linoleic acid metabolism and alpha-Linolenic acid metabolism. Affiliated tissues include retina and eye, and related phenotypes are blindness and retinal flecks

Disease Ontology : 12 A retinal disease characterized by a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but with no apparent visual or electrophysiologic deficits that has material basis in homozygous or compound heterozygous mutation in PLA2G5 on chromosome 1p36.13.

KEGG : 36 Familial benign fleck retina (FRFB) is an autosomal recessive condition associated with a distinctive retinal appearance. 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. Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause FRFB.

UniProtKB/Swiss-Prot : 72 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

Graphical network of the top 20 diseases related to Fleck Retina, Familial Benign:



Diseases related to Fleck Retina, Familial Benign

Symptoms & Phenotypes for Fleck Retina, Familial Benign

Human phenotypes related to Fleck Retina, Familial Benign:

31
# Description HPO Frequency HPO Source Accession
1 blindness 31 HP:0000618
2 retinal flecks 31 HP:0012045

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Eyes:
fleck retina
multiple yellow ocular fundus lesions
macula spared
no night blindness

Clinical features from OMIM®:

228980 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Fleck Retina, Familial Benign:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.06 AKAP5 CACNA1A CACNA1B CACNA1C CACNA1D CACNA1E
2 homeostasis/metabolism MP:0005376 9.9 AKAP5 CACNA1A CACNA1B CACNA1C CACNA1D CACNA1E
3 endocrine/exocrine gland MP:0005379 9.8 AKAP5 CACNA1A CACNA1B CACNA1C CACNA1D CACNA1E
4 muscle MP:0005369 9.43 CACNA1A CACNA1C CAV1 IRAK1 PLA2G5 TUBB4A
5 nervous system MP:0003631 9.36 AKAP5 CACNA1A CACNA1B CACNA1C CACNA1D CACNA1E

Drugs & Therapeutics for Fleck Retina, Familial Benign

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

Cochrane evidence based reviews: 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:

40
Retina, Eye

Publications for Fleck Retina, Familial Benign

Articles related to Fleck Retina, Familial Benign:

# Title Authors PMID Year
1
Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina. 6 57
22137173 2011
2
Autofluorescence imaging in a case of benign familial fleck retina. 6 57
17502520 2007
3
Benign fleck retina. 57
8703867 1996
4
Benign familial fleck retina. 57
7426586 1980
5
FRF peptides in the ARC neuromuscular system of Aplysia: purification and physiological actions. 61
7884452 1994

Variations for Fleck Retina, Familial Benign

ClinVar genetic disease variations for Fleck Retina, Familial Benign:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLA2G5 NM_000929.3(PLA2G5):c.133G>T (p.Gly45Cys) SNV Affects 30160 rs387906795 GRCh37: 1:20412668-20412668
GRCh38: 1:20086175-20086175
2 PLA2G5 NM_000929.3(PLA2G5):c.185G>A (p.Trp62Ter) SNV Affects 30161 rs746408116 GRCh37: 1:20412720-20412720
GRCh38: 1:20086227-20086227
3 PLA2G5 NM_000929.3(PLA2G5):c.383del (p.Gln128fs) Deletion Affects 30164 rs766454085 GRCh37: 1:20417151-20417151
GRCh38: 1:20090658-20090658
4 PLA2G5 NM_000929.3(PLA2G5):c.145G>A (p.Gly49Ser) SNV Affects 30162 rs387906796 GRCh37: 1:20412680-20412680
GRCh38: 1:20086187-20086187
5 PLA2G5 NM_000929.3(PLA2G5):c.157C>T (p.Arg53Ter) SNV Affects 30163 rs200954922 GRCh37: 1:20412692-20412692
GRCh38: 1:20086199-20086199
6 PLA2G5 NM_000929.3(PLA2G5):c.312T>C (p.His104=) SNV Likely benign 522300 rs149833360 GRCh37: 1:20417080-20417080
GRCh38: 1:20090587-20090587

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

72
# Symbol AA change Variation ID SNP ID
1 PLA2G5 p.Gly45Cys VAR_067343 rs387906795
2 PLA2G5 p.Gly49Ser VAR_067344 rs387906796

Expression for Fleck Retina, Familial Benign

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

Pathways for Fleck Retina, Familial Benign

Pathways related to Fleck Retina, Familial Benign according to KEGG:

36
# Name Kegg Source Accession
1 Linoleic acid metabolism hsa00591
2 alpha-Linolenic acid metabolism hsa00592
3 Arachidonic acid metabolism hsa00590

Pathways related to Fleck Retina, Familial Benign according to GeneCards Suite gene sharing:

(show all 42)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.72 IRAK1 FGF7 CACNA1F CACNA1E CACNA1D CACNA1C
2
Show member pathways
13.47 PLA2G5 FGF7 CACNA1F CACNA1E CACNA1D CACNA1C
3
Show member pathways
13.32 CAV1 CACNA1F CACNA1E CACNA1D CACNA1C CACNA1B
4
Show member pathways
13.26 FGF7 CACNA1F CACNA1E CACNA1D CACNA1C CACNA1B
5
Show member pathways
13.02 PLA2G5 CACNA1F CACNA1E CACNA1D CACNA1C CACNA1B
6
Show member pathways
13 CAV1 CACNA1F CACNA1E CACNA1D CACNA1C CACNA1B
7
Show member pathways
12.88 PLA2G5 CACNA1F CACNA1E CACNA1D CACNA1C CACNA1B
8
Show member pathways
12.85 PLA2G5 CACNA1F CACNA1E CACNA1D CACNA1C CACNA1B
9
Show member pathways
12.82 CACNA1F CACNA1E CACNA1D CACNA1C CACNA1B CACNA1A
10
Show member pathways
12.8 TUBB4A CAV1 CACNA1F CACNA1D CACNA1C CACNA1B
11
Show member pathways
12.71 CACNA1F CACNA1D CACNA1C CACNA1B CACNA1A
12
Show member pathways
12.67 CACNA1D CACNA1C CACNA1B CACNA1A
13
Show member pathways
12.65 CACNA1F CACNA1E CACNA1D CACNA1C CACNA1B CACNA1A
14
Show member pathways
12.54 CACNA1F CACNA1D CACNA1C CACNA1B CACNA1A
15
Show member pathways
12.5 CACNA1E CACNA1D CACNA1C CACNA1B CACNA1A
16
Show member pathways
12.42 PLA2G5 CACNA1F CACNA1D CACNA1C
17
Show member pathways
12.36 CACNA1E CACNA1D CACNA1C CACNA1A AKAP5
18 12.33 CACNA1F CACNA1E CACNA1D CACNA1C CACNA1B CACNA1A
19 12.28 PLA2G5 IRAK1 FGF7 CACNA1F CACNA1E CACNA1D
20 12.25 FGF7 CACNA1F CACNA1E CACNA1D CACNA1C CACNA1B
21 12.19 CACNA1F CACNA1D CACNA1C
22
Show member pathways
12.13 CAV1 CACNA1F CACNA1E CACNA1D CACNA1C CACNA1B
23
Show member pathways
12.12 CACNA1F CACNA1D CACNA1C
24 12.06 CACNA1F CACNA1E CACNA1D CACNA1C CACNA1B CACNA1A
25 12.03 CACNA1F CACNA1D CACNA1C
26 12.02 CACNA1F CACNA1D CACNA1C
27 11.98 CACNA1F CACNA1D CACNA1C CACNA1B CACNA1A
28
Show member pathways
11.96 CACNA1F CACNA1E CACNA1D CACNA1C CACNA1B CACNA1A
29
Show member pathways
11.94 CACNA1D CACNA1C CACNA1B
30
Show member pathways
11.89 CACNA1E CACNA1D CACNA1C CACNA1B CACNA1A
31 11.78 CACNA1F CACNA1D CACNA1C
32
Show member pathways
11.71 CACNA1F CACNA1D CACNA1C
33 11.69 FGF7 CACNA1F CACNA1E CACNA1D CACNA1C CACNA1B
34 11.67 CACNA1F CACNA1D CACNA1C
35 11.63 CACNA1F CACNA1D CACNA1C
36 11.49 CACNA1E CACNA1D CACNA1C CACNA1B CACNA1A
37 11.4 CACNA1F CACNA1E CACNA1D CACNA1C CACNA1B CACNA1A
38 11.29 CACNA1B CACNA1A
39 11.25 CACNA1D CACNA1C
40 11.14 CACNA1D CACNA1C CACNA1B CACNA1A
41 11.07 CACNA1F CACNA1D CACNA1C
42 10.1 CACNA1E CACNA1D CACNA1C CACNA1B CACNA1A

GO Terms for Fleck Retina, Familial Benign

Cellular components related to Fleck Retina, Familial Benign according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.85 PLA2G5 IRAK1 CAV1 CACNA1F CACNA1E CACNA1D
2 synapse GO:0045202 9.65 CACNA1E CACNA1C CACNA1B CACNA1A AKAP5
3 presynapse GO:0098793 9.5 CACNA1D CACNA1B CACNA1A
4 voltage-gated calcium channel complex GO:0005891 9.1 CACNA1F CACNA1E CACNA1D CACNA1C CACNA1B CACNA1A
5 L-type voltage-gated calcium channel complex GO:1990454 8.96 CACNA1D CACNA1C

Biological processes related to Fleck Retina, Familial Benign according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.93 CACNA1F CACNA1E CACNA1D CACNA1C CACNA1B CACNA1A
2 transmembrane transport GO:0055085 9.91 CACNA1F CACNA1E CACNA1D CACNA1C CACNA1B CACNA1A
3 chemical synaptic transmission GO:0007268 9.81 CACNA1E CACNA1B CACNA1A AKAP5
4 regulation of ion transmembrane transport GO:0034765 9.73 CACNA1F CACNA1E CACNA1D CACNA1C CACNA1B CACNA1A
5 regulation of insulin secretion GO:0050796 9.71 CACNA1E CACNA1D CACNA1C CACNA1A
6 cardiac conduction GO:0061337 9.67 CACNA1F CACNA1D CACNA1C
7 regulation of heart rate by cardiac conduction GO:0086091 9.65 CAV1 CACNA1D CACNA1C
8 calcium ion transmembrane transport GO:0070588 9.63 CACNA1F CACNA1E CACNA1D CACNA1C CACNA1B CACNA1A
9 membrane depolarization GO:0051899 9.62 CAV1 CACNA1E CACNA1B CACNA1A
10 cardiac muscle cell action potential involved in contraction GO:0086002 9.56 CACNA1D CACNA1C
11 response to amyloid-beta GO:1904645 9.55 CACNA1B CACNA1A
12 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.54 CACNA1D CACNA1C
13 positive regulation of adenylate cyclase activity GO:0045762 9.54 CACNA1D CACNA1C AKAP5
14 regulation of ventricular cardiac muscle cell action potential GO:0098911 9.52 CAV1 CACNA1C
15 calcium ion transport GO:0006816 9.5 CAV1 CACNA1F CACNA1E CACNA1D CACNA1C CACNA1B
16 calcium ion import GO:0070509 9.1 CACNA1F CACNA1E CACNA1D CACNA1C CACNA1B CACNA1A

Molecular functions related to Fleck Retina, Familial Benign according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.8 CACNA1F CACNA1E CACNA1D CACNA1C CACNA1B CACNA1A
2 voltage-gated ion channel activity GO:0005244 9.73 CACNA1F CACNA1E CACNA1D CACNA1C CACNA1B CACNA1A
3 calcium channel activity GO:0005262 9.63 CACNA1F CACNA1E CACNA1D CACNA1C CACNA1B CACNA1A
4 voltage-gated calcium channel activity GO:0005245 9.43 CACNA1F CACNA1E CACNA1D CACNA1C CACNA1B CACNA1A
5 alpha-actinin binding GO:0051393 9.4 CACNA1D CACNA1C
6 voltage-gated calcium channel activity involved in cardiac muscle cell action potential GO:0086007 9.37 CACNA1D CACNA1C
7 high voltage-gated calcium channel activity GO:0008331 9.02 CACNA1F CACNA1D CACNA1C CACNA1B CACNA1A

Sources for Fleck Retina, Familial Benign

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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