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

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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: Eye diseases 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

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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.

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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 24)

#	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	x-linked monogenic disease	9.7	CD40LG BDNF
11	optic nerve disease	9.7	CD40LG BDNF
12	chorioretinal scar	9.7	KCNMA1 CD40LG
13	relapsing-remitting multiple sclerosis	9.7	CD40LG BDNF
14	choroiditis	9.6	KCNMA1 CD40LG
15	macular degeneration, age-related, 1	9.6	KCNMA1 BDNF
16	demyelinating disease	9.6	CD40LG BDNF
17	peripheral nervous system disease	9.6	CD40LG BDNF
18	migraine with or without aura 1	9.6	CD40LG BDNF
19	dermatitis, atopic	9.5	CD40LG BDNF
20	muscular disease	9.4	CD40LG BDNF
21	skin disease	9.2	CD40LG BDNF
22	epilepsy	9.2	KCNMA1 CD40LG BDNF
23	hypertension, essential	9.2	KCNMA1 CD40LG BDNF
24	retinitis pigmentosa	9.1	KCNMA1 CD40LG BDNF

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

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Symptoms & Phenotypes for Nerve Fibre Bundle Defect

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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

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Genetic Tests for Nerve Fibre Bundle Defect

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Anatomical Context for Nerve Fibre Bundle Defect

MalaCards organs/tissues related to Nerve Fibre Bundle Defect:

⁴⁰

Eye, Skin

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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

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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	6.35	DISEASES inferred ¹⁵
2	CD40LG	CD40 Ligand	Protein Coding	4.63	DISEASES inferred ¹⁵
3	BDNF	Brain Derived Neurotrophic Factor	Protein Coding	3.75	DISEASES inferred ¹⁵

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Variations for Nerve Fibre Bundle Defect

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Expression for Nerve Fibre Bundle Defect

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

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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	11.24	CD40LG BDNF

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GO Terms for Nerve Fibre Bundle Defect

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