MCID: NRV002
MIFTS: 18

Nerve Fibre Bundle Defect

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Nerve Fibre Bundle Defect

MalaCards integrated aliases for Nerve Fibre Bundle Defect:

Name: Nerve Fibre Bundle Defect 12 15
Retinal Nerve Fiber Bundle Deficiency 12 71
Retinal Nerve Fiber Bundle Defects 12
Nerve Fiber Bundle Defect 71

Classifications:



External Ids:

Disease Ontology 12 DOID:5678
ICD9CM 34 362.85
SNOMED-CT 67 87194000
UMLS 71 C0474334 C3665426

Summaries for Nerve Fibre Bundle Defect

MalaCards based summary : Nerve Fibre Bundle Defect, also known as retinal nerve fiber bundle deficiency, is related to intraocular pressure quantitative trait locus and 3-methylglutaconic aciduria, type iii. An important gene associated with Nerve Fibre Bundle Defect is KCNMA1 (Potassium Calcium-Activated Channel Subfamily M Alpha 1), and among its related pathways/superpathways is NF-KappaB Family Pathway. Affiliated tissues include eye and skin.

Related Diseases for Nerve Fibre Bundle Defect

Graphical network of the top 20 diseases related to Nerve Fibre Bundle Defect:



Diseases related to Nerve Fibre Bundle Defect

Symptoms & Phenotypes for Nerve Fibre Bundle Defect

Drugs & Therapeutics for Nerve Fibre Bundle Defect

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Relation Between Macular and RNFL Thickness Measurement and Quality Grading in OCT Unknown status NCT02700750
2 Effect of Trabeculectomy on Peripapillary Retinal Nerve Fiber Layer Thickness Using Spectral Domain Optical Coherence Tomography Terminated NCT01422525

Search NIH Clinical Center for Nerve Fibre Bundle Defect

Genetic Tests for Nerve Fibre Bundle Defect

Anatomical Context for Nerve Fibre Bundle Defect

MalaCards organs/tissues related to Nerve Fibre Bundle Defect:

40
Eye, Skin

Publications for Nerve Fibre Bundle Defect

Articles related to Nerve Fibre Bundle Defect:

# Title Authors PMID Year
1
[Nerve fibre bundle defects in a pre-chiasmal lesion]. 61
17309013 2007
2
Obstructed axoplasmic transport in Purtscher's traumatic retinopathy. 61
6160445 1980
3
Fundoscopic appearance of a nerve-fibre-bundle defect. 61
5079403 1972
4
The nerve-fibre bundle defect. 61
21024399 1944

Variations for Nerve Fibre Bundle Defect

Expression for Nerve Fibre Bundle Defect

Search GEO for disease gene expression data for Nerve Fibre Bundle Defect.

Pathways for Nerve Fibre Bundle Defect

Pathways related to Nerve Fibre Bundle Defect according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.24 CD40LG BDNF

GO Terms for Nerve Fibre Bundle Defect

Sources for Nerve Fibre Bundle Defect

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
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
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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