Nerve Fibre Bundle Defect disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

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:

MalaCards categories:
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:5678

ICD9CM ³⁴ 362.85

SNOMED-CT ⁶⁷ 87194000

UMLS ⁷¹ C0474334 C3665426

Sources

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 are NF-KappaB Family Pathway and TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions.

Sources

Related Diseases for Nerve Fibre Bundle Defect

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

(show all 21)

#	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
5	meningoencephalitis	9.7	CD40LG BDNF
6	cranial nerve disease	9.7	CD40LG BDNF
7	secondary progressive multiple sclerosis	9.7	CD40LG BDNF
8	sensory peripheral neuropathy	9.7	CD40LG BDNF
9	autoimmune disease of central nervous system	9.7	CD40LG BDNF
10	relapsing-remitting multiple sclerosis	9.6	CD40LG BDNF
11	x-linked monogenic disease	9.6	CD40LG BDNF
12	chorioretinal scar	9.6	KCNMA1 CD40LG
13	optic nerve disease	9.6	CD40LG BDNF
14	peripheral nervous system disease	9.6	CD40LG BDNF
15	migraine with or without aura 1	9.5	CD40LG BDNF
16	macular degeneration, age-related, 1	9.5	KCNMA1 BDNF
17	lung disease	9.5	CD40LG BDNF
18	skin disease	9.2	CD40LG BDNF
19	epilepsy	9.2	KCNMA1 CD40LG BDNF
20	hypertension, essential	9.1	KCNMA1 CD40LG BDNF
21	retinitis pigmentosa	9.0	KCNMA1 CD40LG BDNF

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

Sources

Symptoms & Phenotypes for Nerve Fibre Bundle Defect

Sources

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

Sources

Genetic Tests for Nerve Fibre Bundle Defect

Sources

Anatomical Context for Nerve Fibre Bundle Defect

Sources

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	Mildenberger I...Schiefer U	17309013	2007
2	Obstructed axoplasmic transport in Purtscher's traumatic retinopathy. ⁶¹	Orzalesi N...Coghe F	6160445	1980
3	Fundoscopic appearance of a nerve-fibre-bundle defect. ⁶¹	Hoyt WF...Eckelhoff RJ	5079403	1972
4	The nerve-fibre bundle defect. ⁶¹	TRAQUAIR HM	21024399	1944

Sources

Genes for Nerve Fibre Bundle Defect

Genes related to Nerve Fibre Bundle Defect (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	KCNMA1	Potassium Calcium-Activated Channel Subfamily M Alpha 1	Protein Coding	6.36	DISEASES inferred ¹⁵
2	CD40LG	CD40 Ligand	Protein Coding	4.65	DISEASES inferred ¹⁵
3	BDNF	Brain Derived Neurotrophic Factor	Protein Coding	3.72	DISEASES inferred ¹⁵

Sources

Variations for Nerve Fibre Bundle Defect

Sources

Expression for Nerve Fibre Bundle Defect

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

Sources

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	NF-KappaB Family Pathway ⁶³ Show member pathways NF-KappaB (p50-p65) Pathway ⁶³	11.58	CD40LG BDNF
2	TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions ⁶⁴ Show member pathways TNFs bind their physiological receptors ⁶⁵	10.54	CD40LG BDNF

Sources

GO Terms for Nerve Fibre Bundle Defect

Sources

Sources for Nerve Fibre Bundle Defect

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia