MCID: FND006
MIFTS: 21

Fundus Dystrophy, Pseudoinflammatory, Recessive Form

Categories: Rare diseases

Aliases & Classifications for Fundus Dystrophy, Pseudoinflammatory, Recessive Form

MalaCards integrated aliases for Fundus Dystrophy, Pseudoinflammatory, Recessive Form:

Name: Fundus Dystrophy, Pseudoinflammatory, Recessive Form 56 29 6
Pfd, Finnish Type 56 52
Fundus Dystrophy, Pseudoinflammatory Recessive Form 52
Pseudoinflammatory Fundus Dystrophy 52
Pfd, Lavia Type 56
Pfd Lavia Type 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
fundus dystrophy, pseudoinflammatory, recessive form:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 264420
MedGen 41 C1849694

Summaries for Fundus Dystrophy, Pseudoinflammatory, Recessive Form

MalaCards based summary : Fundus Dystrophy, Pseudoinflammatory, Recessive Form, also known as pfd, finnish type, is related to sorsby fundus dystrophy and fundus dystrophy. An important gene associated with Fundus Dystrophy, Pseudoinflammatory, Recessive Form is SYN3 (Synapsin III). Related phenotypes are progressive visual loss and myopia

More information from OMIM: 264420

Related Diseases for Fundus Dystrophy, Pseudoinflammatory, Recessive Form

Diseases related to Fundus Dystrophy, Pseudoinflammatory, Recessive Form via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 sorsby fundus dystrophy 32.0 TIMP3 SYN3
2 fundus dystrophy 29.8 TIMP3 SYN3
3 joint laxity, short stature, and myopia 10.4
4 myopia 10.4
5 macular degeneration, age-related, 1 10.3
6 color blindness 10.3
7 posttransplant acute limbic encephalitis 10.3

Graphical network of the top 20 diseases related to Fundus Dystrophy, Pseudoinflammatory, Recessive Form:



Diseases related to Fundus Dystrophy, Pseudoinflammatory, Recessive Form

Symptoms & Phenotypes for Fundus Dystrophy, Pseudoinflammatory, Recessive Form

Human phenotypes related to Fundus Dystrophy, Pseudoinflammatory, Recessive Form:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 progressive visual loss 31 HP:0000529
2 myopia 31 HP:0000545
3 retinal hemorrhage 31 HP:0000573
4 dyschromatopsia 31 HP:0007641
5 peripheral retinal degeneration 31 HP:0007769
6 central retinal exudate 31 HP:0007822

Symptoms via clinical synopsis from OMIM:

56
Eyes:
myopia
central retinal exudate
retinal hemorrhages
pseudoinflammatory fundus dystrophy
relatively rapid loss of visual acuity
more
Misc:
onset from second to fourth decade

Clinical features from OMIM:

264420

Drugs & Therapeutics for Fundus Dystrophy, Pseudoinflammatory, Recessive Form

Search Clinical Trials , NIH Clinical Center for Fundus Dystrophy, Pseudoinflammatory, Recessive Form

Genetic Tests for Fundus Dystrophy, Pseudoinflammatory, Recessive Form

Genetic tests related to Fundus Dystrophy, Pseudoinflammatory, Recessive Form:

# Genetic test Affiliating Genes
1 Fundus Dystrophy, Pseudoinflammatory, Recessive Form 29

Anatomical Context for Fundus Dystrophy, Pseudoinflammatory, Recessive Form

Publications for Fundus Dystrophy, Pseudoinflammatory, Recessive Form

Articles related to Fundus Dystrophy, Pseudoinflammatory, Recessive Form:

# Title Authors PMID Year
1
Pseudoinflammatory fundus dystrophy: a follow-up study. 56 61
2387082 1990
2
Pseudoinflammatory fundus dystrophy with autosomal recessive inheritance. 61 56
7148944 1982
3
Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance. 56
8981947 1997
4
A fundus dystrophy with unusual features. 56
18111349 1949
5
THE DYSTROPHIES OF THE MACULA. 56
18169721 1940
6
Sorsby Pseudoinflammatory Fundus Dystrophy. 61
30578493 2018

Variations for Fundus Dystrophy, Pseudoinflammatory, Recessive Form

ClinVar genetic disease variations for Fundus Dystrophy, Pseudoinflammatory, Recessive Form:

6 (show all 14) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TIMP3 NM_003490.4(SYN3):c.711+5325dupduplication Uncertain significance 341351 rs886057435 22:33255576-33255577 22:32859589-32859590
2 TIMP3 NM_003490.4(SYN3):c.711+4002deldeletion Uncertain significance 341364 rs886057441 22:33256900-33256900 22:32860913-32860913
3 TIMP3 NM_003490.4(SYN3):c.711+3726dupduplication Uncertain significance 341374 rs397690270 22:33257163-33257164 22:32861176-32861177
4 TIMP3 NM_003490.4(SYN3):c.711+4000_711+4001deldeletion Uncertain significance 341366 rs766674644 22:33256901-33256902 22:32860914-32860915
5 TIMP3 NM_003490.4(SYN3):c.711+4001deldeletion Uncertain significance 341365 rs766674644 22:33256901-33256901 22:32860914-32860914
6 TIMP3 NM_003490.4(SYN3):c.711+3526_711+3527insTTTinsertion Uncertain significance 341378 rs886057447 22:33257375-33257376 22:32861388-32861389
7 TIMP3 NM_003490.4(SYN3):c.711+3838_711+3841deldeletion Uncertain significance 341369 rs550747276 22:33257061-33257064 22:32861074-32861077
8 TIMP3 NM_003490.4(SYN3):c.711+2195_711+2196delshort repeat Uncertain significance 341407 rs767627836 22:33258706-33258707 22:32862719-32862720
9 TIMP3 NM_003490.4(SYN3):c.711+3984deldeletion Uncertain significance 341367 rs886057442 22:33256918-33256918 22:32860931-32860931
10 TIMP3 NM_003490.4(SYN3):c.711+1889deldeletion Uncertain significance 341410 rs886057454 22:33259013-33259013 22:32863026-32863026
11 TIMP3 NM_003490.4(SYN3):c.711+64113G>ASNV Likely benign 369376 rs148722870 22:33196788-33196788 22:32800802-32800802
12 TIMP3 NM_003490.4(SYN3):c.711+7622A>GSNV Benign 255943 rs9862 22:33253280-33253280 22:32857293-32857293
13 TIMP3 NM_003490.4(SYN3):c.711+3521_711+3523dupduplication Benign 341379 rs55686145 22:33257378-33257379 22:32861391-32861392
14 TIMP3 NM_003490.4(SYN3):c.711+3738deldeletion Benign 341375 rs397690270 22:33257164-33257164 22:32861177-32861177

Expression for Fundus Dystrophy, Pseudoinflammatory, Recessive Form

Search GEO for disease gene expression data for Fundus Dystrophy, Pseudoinflammatory, Recessive Form.

Pathways for Fundus Dystrophy, Pseudoinflammatory, Recessive Form

GO Terms for Fundus Dystrophy, Pseudoinflammatory, Recessive Form

Sources for Fundus Dystrophy, Pseudoinflammatory, Recessive Form

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
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35 IUPHAR
36 KEGG
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39 LOVD
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43 MeSH
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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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