MCID: NRD011
MIFTS: 26

Neurodegeneration with Brain Iron Accumulation Disorders malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Eye diseases categories

Aliases & Classifications for Neurodegeneration with Brain Iron Accumulation Disorders

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Neurodegeneration with Brain Iron Accumulation Disorders, Aliases & Descriptions:

Name: Neurodegeneration with Brain Iron Accumulation Disorders 19
Neurodegeneration with Brain Iron Accumulation 41 20 42 22
 
Nbia 19 41


Classifications:



Summaries for Neurodegeneration with Brain Iron Accumulation Disorders

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NINDS:42 Neurodegeneration with brain iron accumulation (NBIA) is a rare, inherited, neurological movement disorder characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system.

MalaCards based summary: Neurodegeneration with Brain Iron Accumulation Disorders, also known as neurodegeneration with brain iron accumulation, is related to neurodegeneration with brain iron accumulation 3 and neurodegeneration with brain iron accumulation 2b, and has symptoms including abnormality of iron homeostasis, retinopathy and optic atrophy. An important gene associated with Neurodegeneration with Brain Iron Accumulation Disorders is WDR45 (WD repeat domain 45). Affiliated tissues include brain and cerebellum.

GeneReviews summary for nbia-ov

Related Diseases for Neurodegeneration with Brain Iron Accumulation Disorders

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Graphical network of diseases related to Neurodegeneration with Brain Iron Accumulation Disorders:



Diseases related to neurodegeneration with brain iron accumulation disorders

Symptoms for Neurodegeneration with Brain Iron Accumulation Disorders

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HPO human phenotypes related to Neurodegeneration with Brain Iron Accumulation Disorders:

(show all 7)
id Description Frequency HPO Source Accession
1 abnormality of iron homeostasis hallmark (90%) HP:0011031
2 retinopathy typical (50%) HP:0000488
3 optic atrophy typical (50%) HP:0000648
4 abnormality of extrapyramidal motor function typical (50%) HP:0002071
5 chorea typical (50%) HP:0002072
6 neurological speech impairment typical (50%) HP:0002167
7 aplasia/hypoplasia of the cerebellum typical (50%) HP:0007360

Drugs & Therapeutics for Neurodegeneration with Brain Iron Accumulation Disorders

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Drug clinical trials:

Search ClinicalTrials for Neurodegeneration with Brain Iron Accumulation Disorders

Search NIH Clinical Center for Neurodegeneration with Brain Iron Accumulation Disorders

Genetic Tests for Neurodegeneration with Brain Iron Accumulation Disorders

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Genetic tests related to Neurodegeneration with Brain Iron Accumulation Disorders:

id Genetic test Affiliating Genes
1 Neurodegeneration with Brain Iron Accumulation20 22
2 Neurodegeneration with Brain Iron Accumulation Multi-Gene Panels20

Anatomical Context for Neurodegeneration with Brain Iron Accumulation Disorders

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MalaCards organs/tissues related to Neurodegeneration with Brain Iron Accumulation Disorders:

31
Brain, Cerebellum

Animal Models for Neurodegeneration with Brain Iron Accumulation Disorders or affiliated genes

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Publications for Neurodegeneration with Brain Iron Accumulation Disorders

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Articles related to Neurodegeneration with Brain Iron Accumulation Disorders:

idTitleAuthorsYear
1
Neurodegeneration with Brain Iron Accumulation Disorders Overview (23447832)
1993

Variations for Neurodegeneration with Brain Iron Accumulation Disorders

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Expression for genes affiliated with Neurodegeneration with Brain Iron Accumulation Disorders

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Search GEO for disease gene expression data for Neurodegeneration with Brain Iron Accumulation Disorders.

Pathways for genes affiliated with Neurodegeneration with Brain Iron Accumulation Disorders

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Compounds for genes affiliated with Neurodegeneration with Brain Iron Accumulation Disorders

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GO Terms for genes affiliated with Neurodegeneration with Brain Iron Accumulation Disorders

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Biological processes related to Neurodegeneration with Brain Iron Accumulation Disorders according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:00082199.3WDR45, PANK2

Products for genes affiliated with Neurodegeneration with Brain Iron Accumulation Disorders

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Neurodegeneration with Brain Iron Accumulation Disorders

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet