MCID: EPT024
MIFTS: 18

Epithelial-Stromal Tgfbi Dystrophy

Categories: Neuronal diseases

Aliases & Classifications for Epithelial-Stromal Tgfbi Dystrophy

MalaCards integrated aliases for Epithelial-Stromal Tgfbi Dystrophy:

Name: Epithelial-Stromal Tgfbi Dystrophy 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0060441

Summaries for Epithelial-Stromal Tgfbi Dystrophy

Disease Ontology : 12 A corneal dystrophy that is characterized by abnormal deposition of proteins in the cornea and is caused by mutations in TGFBI gene of chromosome 5q.

MalaCards based summary : Epithelial-Stromal Tgfbi Dystrophy is related to corneal dystrophy, reis-bucklers type and corneal dystrophy, thiel-behnke type. An important gene associated with Epithelial-Stromal Tgfbi Dystrophy is TGFBI (Transforming Growth Factor Beta Induced). Affiliated tissues include endothelial and bone, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Epithelial-Stromal Tgfbi Dystrophy

Diseases related to Epithelial-Stromal Tgfbi Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, reis-bucklers type 32.1 TGFBI TBCD TACSTD2 KRT3 KRT12 CHST6
2 corneal dystrophy, thiel-behnke type 32.1 TGFBI TBCD TACSTD2 KRT3 KRT12 CHST6
3 granular corneal dystrophy 31.7 TGFBI TBCD TACSTD2 KRT3 KRT12 COL8A2
4 lattice corneal dystrophy 30.4 TGFBI TBCD TACSTD2 RIC8B PVALB POLI
5 corneal dystrophy, lattice type i 10.4 TGFBI GSN
6 exhibitionism 10.3 OSTF1 H2AC18
7 paraphilia disorder 10.3 OSTF1 H2AC18
8 corneal dystrophy, lisch epithelial 10.3 KRT3 KRT12 CHST6
9 schnyder corneal dystrophy 10.3 TGFBI KRT3 KRT12
10 prosopagnosia 10.3 HNMT CPZ
11 locked-in syndrome 10.3 FUS CPZ
12 blepharochalasis 10.3 GSN COL8A2
13 limbal stem cell deficiency 10.3 KRT3 KRT12
14 interstitial keratitis 10.3 TGFBI COL8A2
15 dermatopathia pigmentosa reticularis 10.3 HNRNPA1 H2AC18 FUS
16 macular dystrophy, corneal 10.3 TGFBI KRT3 KRT12 CHST6
17 epithelial basement membrane dystrophy 10.3 TGFBI TBCD KRT3 CHST6
18 corneal ectasia 10.3 TGFBI KRT3 COL8A2
19 endometrial stromal tumor 10.3 POLI HNRNPA1 H2AC18
20 corneal edema 10.3 TGFBI KRT3 COL8A2
21 inclusion body myopathy with paget disease of bone and frontotemporal dementia 10.3 HNRNPA1 H2AC18 FUS
22 ovarian carcinosarcoma 10.3 TACSTD2 H2AC18
23 corneal dystrophy, groenouw type i 10.2 TGFBI TACSTD2 KRT12 CHST6
24 akinetopsia 10.2 OPN4 HNMT
25 amblyopia 10.2 PVALB HNMT BFSP2
26 irregular astigmatism 10.2 TGFBI KRT3 KRT12 COL8A2
27 pseudopterygium 10.2 KRT3 KRT12
28 tyrosinemia, type ii 10.2 KRT3 KRT12 COL8A2 CHST6
29 hematuria, benign familial 10.2 RIC8B OPN4 HNMT
30 recurrent corneal erosion 10.2 TGFBI KRT3 KRT12 COL8A2 CHST6
31 corneal degeneration 10.1 TGFBI KRT3 KRT12 COL8A2 CHST6
32 corneal dystrophy, meesmann, 1 10.1 TGFBI KRT3 KRT12 COL8A2 CHST6
33 stromal dystrophy 10.1 TGFBI KRT3 KRT12 COL8A2 CHST6
34 anterior segment dysgenesis 10.1 TGFBI KRT12 COL8A2 BFSP2
35 fuchs' endothelial dystrophy 10.1 TGFBI KRT3 KRT12 COL8A2 CHST6
36 corneal dystrophy, posterior polymorphous, 1 10.1 TGFBI KRT3 KRT12 COL8A2 CHST6
37 keratoconus 10.1 TGFBI KRT3 KRT12 GSN COL8A2
38 corneal deposit 10.1 TGFBI TBCD TACSTD2 KRT3 KRT12 CHST6
39 motor neuron disease 10.0 PVALB HNRNPA1 H2AC18 FUS
40 cerebellar disease 10.0 H2AC18 FUS ATR
41 corneal endothelial dystrophy 10.0 TGFBI TACSTD2 KRT3 KRT12 COL8A2 CHST6
42 corneal dystrophy, avellino type 10.0 TGFBI TBCD TACSTD2 KRT3 KRT12 CHST6
43 corneal dystrophy, gelatinous drop-like 10.0 TGFBI TACSTD2 KRT3 KRT12 GSN COL8A2
44 endometrial stromal sarcoma 9.9 POLI HNRNPA1 H2AC18
45 corneal disease 9.9 TGFBI TACSTD2 KRT3 KRT12 H2AC18 GSN
46 corneal dystrophy 9.9 TGFBI TBCD TACSTD2 KRT3 KRT12 GSN
47 epithelial and subepithelial dystrophy 9.9 TGFBI TBCD TACSTD2 KRT3 KRT12 GSN
48 disease of mental health 9.5 RIC8B PVALB POLI OSTF1 OPN4 HNRNPA1

Graphical network of the top 20 diseases related to Epithelial-Stromal Tgfbi Dystrophy:



Diseases related to Epithelial-Stromal Tgfbi Dystrophy

Symptoms & Phenotypes for Epithelial-Stromal Tgfbi Dystrophy

GenomeRNAi Phenotypes related to Epithelial-Stromal Tgfbi Dystrophy according to GeneCards Suite gene sharing:

26 (show all 35)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.07 GSN
2 Decreased viability GR00055-A-2 10.07 GSN
3 Decreased viability GR00055-A-3 10.07 GSN
4 Decreased viability GR00221-A-1 10.07 RIC8B
5 Decreased viability GR00221-A-2 10.07 RIC8B
6 Decreased viability GR00221-A-3 10.07 RIC8B
7 Decreased viability GR00221-A-4 10.07 FUS RIC8B
8 Decreased viability GR00240-S-1 10.07 PVALB
9 Decreased viability GR00249-S 10.07 ATR OPN4 TACSTD2 TGFBI
10 Decreased viability GR00301-A 10.07 ATR
11 Decreased viability GR00381-A-1 10.07 HNMT OPN4 PVALB
12 Decreased viability GR00381-A-3 10.07 OPN4
13 Decreased viability GR00386-A-1 10.07 HNMT OSTF1 POLI RIC8B TBCD
14 Decreased viability GR00402-S-2 10.07 KRT3 TBCD TGFBI
15 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.68 OPN4
16 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.68 RIC8B
17 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.68 RIC8B
18 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.68 FUS OPN4 RIC8B
19 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.68 OPN4
20 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.68 RIC8B
21 Increased shRNA abundance (Z-score > 2) GR00366-A-139 9.68 OPN4
22 Increased shRNA abundance (Z-score > 2) GR00366-A-153 9.68 OPN4
23 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.68 FUS
24 Increased shRNA abundance (Z-score > 2) GR00366-A-165 9.68 OPN4
25 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.68 FUS
26 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.68 ATR
27 Increased shRNA abundance (Z-score > 2) GR00366-A-212 9.68 OPN4
28 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.68 FUS
29 Increased shRNA abundance (Z-score > 2) GR00366-A-38 9.68 RIC8B
30 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.68 FUS
31 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.68 OPN4
32 Increased shRNA abundance (Z-score > 2) GR00366-A-40 9.68 FUS
33 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.68 FUS
34 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.68 OPN4
35 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.68 ATR

MGI Mouse Phenotypes related to Epithelial-Stromal Tgfbi Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.28 BFSP2 CHST6 COL8A2 KRT12 OPN4 OSTF1

Drugs & Therapeutics for Epithelial-Stromal Tgfbi Dystrophy

Search Clinical Trials , NIH Clinical Center for Epithelial-Stromal Tgfbi Dystrophy

Genetic Tests for Epithelial-Stromal Tgfbi Dystrophy

Anatomical Context for Epithelial-Stromal Tgfbi Dystrophy

MalaCards organs/tissues related to Epithelial-Stromal Tgfbi Dystrophy:

40
Endothelial, Bone

Publications for Epithelial-Stromal Tgfbi Dystrophy

Articles related to Epithelial-Stromal Tgfbi Dystrophy:

# Title Authors PMID Year
1
Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p.(G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy. 61
27737463 2016

Variations for Epithelial-Stromal Tgfbi Dystrophy

Expression for Epithelial-Stromal Tgfbi Dystrophy

Search GEO for disease gene expression data for Epithelial-Stromal Tgfbi Dystrophy.

Pathways for Epithelial-Stromal Tgfbi Dystrophy

GO Terms for Epithelial-Stromal Tgfbi Dystrophy

Cellular components related to Epithelial-Stromal Tgfbi Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.23 TGFBI TACSTD2 KRT3 KRT12 HNRNPA1 HNMT

Biological processes related to Epithelial-Stromal Tgfbi Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.02 TGFBI TACSTD2 OPN4 KRT12 BFSP2
2 intermediate filament cytoskeleton organization GO:0045104 8.96 KRT3 BFSP2

Sources for Epithelial-Stromal Tgfbi Dystrophy

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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