MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: genetic neurodegenerative disease with dementia (MONDO:0021037)
Parent Node: inherited tremor disorder (MONDO:0017663)
Parent Node: iron metabolism disease (MONDO:0002279)
Parent Node: metabolic disease with dementia (MONDO:0020142)
Parent Node: miscellaneous movement disorder due to genetic neurodegenerative disease (MONDO:0017662)
Parent Node: neuroaxonal dystrophy (MONDO:0002283)
..Starting node ..neurodegeneration with brain iron accumulation ()
Child Nodes:
........aceruloplasminemia ()
........early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome ()
........fatty acid hydroxylase-associated neurodegeneration ()
........Kufor-Rakeb syndrome ()
........neurodegeneration with brain iron accumulation 4 () L: 00422;
........neurodegeneration with brain iron accumulation 5 ()
........neurodegeneration with brain iron accumulation 6 ()
........neurodegeneration with brain iron accumulation 7 ()
........neurodegeneration with brain iron accumulation 8 ()
........neuroferritinopathy ()
........pantothenate kinase-associated neurodegeneration ()
........PLA2G6-associated neurodegeneration ()
........Woodhouse-Sakati syndrome ()
Sister Nodes:
..neuroaxonal dystrophy renal tubular acidosis ()
..neurodegeneration with brain iron accumulation ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18307
Name:	neurodegeneration with brain iron accumulation
Definition:	Neurodegeneration with brain iron accumulation (NBIA, formerly Hallervorden-Spatz syndrome) encompasses a group of rare neurodegenerative disorders characterized by progressive extrapyramidal dysfunction (dystonia, rigidity, choreoathetosis), iron accumulation in the brain and the presence of axonal spheroids, usually limited to the central nervous system.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	NBIA
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
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