MCID: NRV002
MIFTS: 15

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 72
Retinal Nerve Fiber Bundle Defects 12
Nerve Fiber Bundle Defect 72

Classifications:



External Ids:

Disease Ontology 12 DOID:5678
ICD9CM 35 362.85
SNOMED-CT 68 87194000
UMLS 72 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). Affiliated tissues include eye, and related phenotype is renal/urinary system.

Related Diseases for Nerve Fibre Bundle Defect

Diseases related to Nerve Fibre Bundle Defect via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 intraocular pressure quantitative trait locus 10.1
2 3-methylglutaconic aciduria, type iii 10.0
3 glaucoma, normal tension 10.0
4 foster-kennedy syndrome 10.0

Symptoms & Phenotypes for Nerve Fibre Bundle Defect

MGI Mouse Phenotypes related to Nerve Fibre Bundle Defect:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.62 CD40LG KCNMA1

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:

41
Eye

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]. 38
17309013 2007
2
Obstructed axoplasmic transport in Purtscher's traumatic retinopathy. 38
6160445 1980
3
Fundoscopic appearance of a nerve-fibre-bundle defect. 38
5079403 1972
4
The nerve-fibre bundle defect. 38
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

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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