NBIA8
MCID: NRD048
MIFTS: 21

Neurodegeneration with Brain Iron Accumulation 8 (NBIA8)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neurodegeneration with Brain Iron Accumulation 8

MalaCards integrated aliases for Neurodegeneration with Brain Iron Accumulation 8:

Name: Neurodegeneration with Brain Iron Accumulation 8 57 72 29 6
Nbia8 57 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in early childhood
one patient, born of consanguineous turkish parents, has been reported (last curated march 2018)


HPO:

31
neurodegeneration with brain iron accumulation 8:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



Summaries for Neurodegeneration with Brain Iron Accumulation 8

UniProtKB/Swiss-Prot : 72 Neurodegeneration with brain iron accumulation 8: A neurodegenerative disorder associated with iron accumulation, primarily in the basal ganglia. Disease onset is in early childhood. Clinical features include speech delay, progressive cerebellar ataxia, unbalanced gait, and loss of ambulation. NBIA8 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Neurodegeneration with Brain Iron Accumulation 8, is also known as nbia8. An important gene associated with Neurodegeneration with Brain Iron Accumulation 8 is CRAT (Carnitine O-Acetyltransferase). Affiliated tissues include eye and brain, and related phenotypes are hyperreflexia and tremor

OMIM® : 57 Neurodegeneration with brain iron accumulation-8 (NBIA8) is characterized by iron accumulation in the basal ganglia and manifests as a progressive extrapyramidal syndrome with dystonia, rigidity, and choreoathetosis (Drecourt et al., 2018). (617917) (Updated 20-May-2021)

Related Diseases for Neurodegeneration with Brain Iron Accumulation 8

Symptoms & Phenotypes for Neurodegeneration with Brain Iron Accumulation 8

Human phenotypes related to Neurodegeneration with Brain Iron Accumulation 8:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 31 HP:0001347
2 tremor 31 HP:0001337
3 delayed speech and language development 31 HP:0000750
4 motor delay 31 HP:0001270
5 dysmetria 31 HP:0001310
6 sensory neuropathy 31 HP:0000763
7 cerebellar atrophy 31 HP:0001272
8 loss of ability to walk 31 HP:0006957
9 generalized hypotonia 31 HP:0001290
10 unsteady gait 31 HP:0002317

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hyperreflexia
tremor
dysmetria
cerebellar atrophy
loss of ability to walk
more
Muscle Soft Tissue:
hypotonia

Neurologic Peripheral Nervous System:
sensory neuropathy

Clinical features from OMIM®:

617917 (Updated 20-May-2021)

Drugs & Therapeutics for Neurodegeneration with Brain Iron Accumulation 8

Search Clinical Trials , NIH Clinical Center for Neurodegeneration with Brain Iron Accumulation 8

Genetic Tests for Neurodegeneration with Brain Iron Accumulation 8

Genetic tests related to Neurodegeneration with Brain Iron Accumulation 8:

# Genetic test Affiliating Genes
1 Neurodegeneration with Brain Iron Accumulation 8 29 CRAT

Anatomical Context for Neurodegeneration with Brain Iron Accumulation 8

MalaCards organs/tissues related to Neurodegeneration with Brain Iron Accumulation 8:

40
Eye, Brain

Publications for Neurodegeneration with Brain Iron Accumulation 8

Articles related to Neurodegeneration with Brain Iron Accumulation 8:

# Title Authors PMID Year
1
Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation. 6 57
29395073 2018

Variations for Neurodegeneration with Brain Iron Accumulation 8

ClinVar genetic disease variations for Neurodegeneration with Brain Iron Accumulation 8:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CRAT NM_000755.5(CRAT):c.962G>A (p.Arg321His) SNV Likely pathogenic 503495 rs138665095 GRCh37: 9:131862812-131862812
GRCh38: 9:129100533-129100533
2 CRAT NM_000755.5(CRAT):c.830G>A (p.Arg277His) SNV not provided 684522 rs146338921 GRCh37: 9:131862944-131862944
GRCh38: 9:129100665-129100665

Expression for Neurodegeneration with Brain Iron Accumulation 8

Search GEO for disease gene expression data for Neurodegeneration with Brain Iron Accumulation 8.

Pathways for Neurodegeneration with Brain Iron Accumulation 8

GO Terms for Neurodegeneration with Brain Iron Accumulation 8

Sources for Neurodegeneration with Brain Iron Accumulation 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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