MCID: PSD036
MIFTS: 12

Pseudoinflammatory Fundus Dystrophy

Categories: Rare diseases

Aliases & Classifications for Pseudoinflammatory Fundus Dystrophy

MalaCards integrated aliases for Pseudoinflammatory Fundus Dystrophy:

Name: Pseudoinflammatory Fundus Dystrophy 54 30 6 74
Fundus Dystrophy, Pseudoinflammatory Recessive Form 54
Pfd, Finnish Type 54
Pfd Lavia Type 54

Classifications:



External Ids:

UMLS 74 C2931034

Summaries for Pseudoinflammatory Fundus Dystrophy

MalaCards based summary : Pseudoinflammatory Fundus Dystrophy, also known as fundus dystrophy, pseudoinflammatory recessive form, is related to sorsby fundus dystrophy and fundus dystrophy. An important gene associated with Pseudoinflammatory Fundus Dystrophy is TIMP3 (TIMP Metallopeptidase Inhibitor 3).

Related Diseases for Pseudoinflammatory Fundus Dystrophy

Diseases in the Pseudoinflammatory Fundus Dystrophy family:

Fundus Dystrophy, Pseudoinflammatory, Recessive Form

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

# Related Disease Score Top Affiliating Genes
1 sorsby fundus dystrophy 31.7 SYN3 TIMP3
2 fundus dystrophy 30.2 SYN3 TIMP3
3 fundus dystrophy, pseudoinflammatory, recessive form 11.3

Symptoms & Phenotypes for Pseudoinflammatory Fundus Dystrophy

Drugs & Therapeutics for Pseudoinflammatory Fundus Dystrophy

Search Clinical Trials , NIH Clinical Center for Pseudoinflammatory Fundus Dystrophy

Genetic Tests for Pseudoinflammatory Fundus Dystrophy

Genetic tests related to Pseudoinflammatory Fundus Dystrophy:

# Genetic test Affiliating Genes
1 Pseudoinflammatory Fundus Dystrophy 30

Anatomical Context for Pseudoinflammatory Fundus Dystrophy

Publications for Pseudoinflammatory Fundus Dystrophy

Articles related to Pseudoinflammatory Fundus Dystrophy:

# Title Authors Year
1
Sorsby Pseudoinflammatory Fundus Dystrophy. ( 30578493 )
2018
2
Pseudoinflammatory fundus dystrophy: a follow-up study. ( 2387082 )
1990
3
Pseudoinflammatory fundus dystrophy with autosomal recessive inheritance. ( 7148944 )
1982

Variations for Pseudoinflammatory Fundus Dystrophy

ClinVar genetic disease variations for Pseudoinflammatory Fundus Dystrophy:

6 (show top 50) (show all 178)
# Gene Variation Type Significance SNP ID Assembly Location
1 TIMP3 NM_000362.4(TIMP3): c.249T> C (p.His83=) single nucleotide variant Benign rs9862 GRCh37 Chromosome 22, 33253280: 33253280
2 TIMP3 NM_000362.4(TIMP3): c.249T> C (p.His83=) single nucleotide variant Benign rs9862 GRCh38 Chromosome 22, 32857293: 32857293
3 TIMP3 NM_000362.4(TIMP3): c.321C> T (p.Arg107=) single nucleotide variant Uncertain significance rs145553035 GRCh37 Chromosome 22, 33254008: 33254008
4 TIMP3 NM_000362.4(TIMP3): c.321C> T (p.Arg107=) single nucleotide variant Uncertain significance rs145553035 GRCh38 Chromosome 22, 32858021: 32858021
5 TIMP3 NM_000362.4(TIMP3): c.-1171G> A single nucleotide variant Uncertain significance rs886057424 GRCh37 Chromosome 22, 33196817: 33196817
6 TIMP3 NM_000362.4(TIMP3): c.-1171G> A single nucleotide variant Uncertain significance rs886057424 GRCh38 Chromosome 22, 32800831: 32800831
7 TIMP3 NM_000362.4(TIMP3): c.-1136G> C single nucleotide variant Likely benign rs186649312 GRCh37 Chromosome 22, 33196852: 33196852
8 TIMP3 NM_000362.4(TIMP3): c.-1136G> C single nucleotide variant Likely benign rs186649312 GRCh38 Chromosome 22, 32800866: 32800866
9 TIMP3 NM_000362.4(TIMP3): c.-330C> T single nucleotide variant Uncertain significance rs886057430 GRCh37 Chromosome 22, 33197658: 33197658
10 TIMP3 NM_000362.4(TIMP3): c.-330C> T single nucleotide variant Uncertain significance rs886057430 GRCh38 Chromosome 22, 32801672: 32801672
11 TIMP3 NM_000362.4(TIMP3): c.*87T> C single nucleotide variant Uncertain significance rs886057434 GRCh38 Chromosome 22, 32859464: 32859464
12 TIMP3 NM_000362.4(TIMP3): c.*87T> C single nucleotide variant Uncertain significance rs886057434 GRCh37 Chromosome 22, 33255451: 33255451
13 TIMP3 NM_000362.4(TIMP3): c.*213dupA duplication Uncertain significance rs886057435 GRCh38 Chromosome 22, 32859590: 32859590
14 TIMP3 NM_000362.4(TIMP3): c.*213dupA duplication Uncertain significance rs886057435 GRCh37 Chromosome 22, 33255577: 33255577
15 TIMP3 NM_000362.4(TIMP3): c.*541T> A single nucleotide variant Uncertain significance rs886057437 GRCh38 Chromosome 22, 32859918: 32859918
16 TIMP3 NM_000362.4(TIMP3): c.*541T> A single nucleotide variant Uncertain significance rs886057437 GRCh37 Chromosome 22, 33255905: 33255905
17 TIMP3 NM_000362.4(TIMP3): c.*1179T> C single nucleotide variant Likely benign rs536794682 GRCh37 Chromosome 22, 33256543: 33256543
18 TIMP3 NM_000362.4(TIMP3): c.*1179T> C single nucleotide variant Likely benign rs536794682 GRCh38 Chromosome 22, 32860556: 32860556
19 TIMP3 NM_000362.4(TIMP3): c.*1536delG deletion Uncertain significance rs886057441 GRCh37 Chromosome 22, 33256900: 33256900
20 TIMP3 NM_000362.4(TIMP3): c.*1536delG deletion Uncertain significance rs886057441 GRCh38 Chromosome 22, 32860913: 32860913
21 TIMP3 NM_000362.4(TIMP3): c.*1681T> C single nucleotide variant Uncertain significance rs760355269 GRCh37 Chromosome 22, 33257045: 33257045
22 TIMP3 NM_000362.4(TIMP3): c.*1681T> C single nucleotide variant Uncertain significance rs760355269 GRCh38 Chromosome 22, 32861058: 32861058
23 TIMP3 NM_000362.4(TIMP3): c.*1812dupA duplication Uncertain significance rs397690270 GRCh37 Chromosome 22, 33257176: 33257176
24 TIMP3 NM_000362.4(TIMP3): c.*1812dupA duplication Uncertain significance rs397690270 GRCh38 Chromosome 22, 32861189: 32861189
25 TIMP3 NM_000362.4(TIMP3): c.*2313C> A single nucleotide variant Likely benign rs575977740 GRCh38 Chromosome 22, 32861690: 32861690
26 TIMP3 NM_000362.4(TIMP3): c.*2313C> A single nucleotide variant Likely benign rs575977740 GRCh37 Chromosome 22, 33257677: 33257677
27 TIMP3 NM_000362.4(TIMP3): c.*2413G> T single nucleotide variant Likely benign rs141846470 GRCh38 Chromosome 22, 32861790: 32861790
28 TIMP3 NM_000362.4(TIMP3): c.*2413G> T single nucleotide variant Likely benign rs141846470 GRCh37 Chromosome 22, 33257777: 33257777
29 TIMP3 NM_000362.4(TIMP3): c.*2519T> G single nucleotide variant Uncertain significance rs747899240 GRCh38 Chromosome 22, 32861896: 32861896
30 TIMP3 NM_000362.4(TIMP3): c.*2519T> G single nucleotide variant Uncertain significance rs747899240 GRCh37 Chromosome 22, 33257883: 33257883
31 TIMP3 NM_000362.4(TIMP3): c.*2651T> C single nucleotide variant Benign rs9621578 GRCh38 Chromosome 22, 32862028: 32862028
32 TIMP3 NM_000362.4(TIMP3): c.*2651T> C single nucleotide variant Benign rs9621578 GRCh37 Chromosome 22, 33258015: 33258015
33 TIMP3 NM_000362.4(TIMP3): c.*2668T> C single nucleotide variant Likely benign rs79718825 GRCh38 Chromosome 22, 32862045: 32862045
34 TIMP3 NM_000362.4(TIMP3): c.*2668T> C single nucleotide variant Likely benign rs79718825 GRCh37 Chromosome 22, 33258032: 33258032
35 TIMP3 NM_000362.4(TIMP3): c.*2820G> A single nucleotide variant Likely benign rs184643956 GRCh38 Chromosome 22, 32862197: 32862197
36 TIMP3 NM_000362.4(TIMP3): c.*2820G> A single nucleotide variant Likely benign rs184643956 GRCh37 Chromosome 22, 33258184: 33258184
37 TIMP3 NM_000362.4(TIMP3): c.*3028G> A single nucleotide variant Likely benign rs117480762 GRCh38 Chromosome 22, 32862405: 32862405
38 TIMP3 NM_000362.4(TIMP3): c.*3028G> A single nucleotide variant Likely benign rs117480762 GRCh37 Chromosome 22, 33258392: 33258392
39 TIMP3 NM_000362.4(TIMP3): c.*3233T> A single nucleotide variant Uncertain significance rs886057451 GRCh37 Chromosome 22, 33258597: 33258597
40 TIMP3 NM_000362.4(TIMP3): c.*3233T> A single nucleotide variant Uncertain significance rs886057451 GRCh38 Chromosome 22, 32862610: 32862610
41 TIMP3 NM_000362.4(TIMP3): c.*3413C> T single nucleotide variant Likely benign rs11287 GRCh37 Chromosome 22, 33258777: 33258777
42 TIMP3 NM_000362.4(TIMP3): c.*3413C> T single nucleotide variant Likely benign rs11287 GRCh38 Chromosome 22, 32862790: 32862790
43 TIMP3 NM_000362.4(TIMP3): c.-684T> C single nucleotide variant Uncertain significance rs886057426 GRCh37 Chromosome 22, 33197304: 33197304
44 TIMP3 NM_000362.4(TIMP3): c.-684T> C single nucleotide variant Uncertain significance rs886057426 GRCh38 Chromosome 22, 32801318: 32801318
45 TIMP3 NM_000362.4(TIMP3): c.-471C> A single nucleotide variant Likely benign rs561308691 GRCh37 Chromosome 22, 33197517: 33197517
46 TIMP3 NM_000362.4(TIMP3): c.-471C> A single nucleotide variant Likely benign rs561308691 GRCh38 Chromosome 22, 32801531: 32801531
47 TIMP3 NM_000362.4(TIMP3): c.-270G> T single nucleotide variant Likely benign rs532843825 GRCh38 Chromosome 22, 32801732: 32801732
48 TIMP3 NM_000362.4(TIMP3): c.-270G> T single nucleotide variant Likely benign rs532843825 GRCh37 Chromosome 22, 33197718: 33197718
49 TIMP3 NM_000362.4(TIMP3): c.-105G> C single nucleotide variant Uncertain significance rs886057432 GRCh38 Chromosome 22, 32801897: 32801897
50 TIMP3 NM_000362.4(TIMP3): c.-105G> C single nucleotide variant Uncertain significance rs886057432 GRCh37 Chromosome 22, 33197883: 33197883

Expression for Pseudoinflammatory Fundus Dystrophy

Search GEO for disease gene expression data for Pseudoinflammatory Fundus Dystrophy.

Pathways for Pseudoinflammatory Fundus Dystrophy

GO Terms for Pseudoinflammatory Fundus Dystrophy

Sources for Pseudoinflammatory Fundus Dystrophy

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