NBIA8
MCID: NRD048
MIFTS: 20

Neurodegeneration with Brain Iron Accumulation 8 (NBIA8)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic 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 58 76 6
Nbia8 58 76

Characteristics:

OMIM:

58
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:

33
neurodegeneration with brain iron accumulation 8:
Onset and clinical course progressive


Classifications:



Summaries for Neurodegeneration with Brain Iron Accumulation 8

UniProtKB/Swiss-Prot : 76 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 brain and eye, and related phenotypes are tremor and hyperreflexia

Description from OMIM: 617917

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:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 tremor 33 HP:0001337
2 hyperreflexia 33 HP:0001347
3 delayed speech and language development 33 HP:0000750
4 dysmetria 33 HP:0001310
5 motor delay 33 HP:0001270
6 cerebellar atrophy 33 HP:0001272
7 unsteady gait 33 HP:0002317
8 loss of ability to walk 33 HP:0006957

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
tremor
hyperreflexia
dysmetria
cerebellar atrophy
unsteady gait
more
Muscle Soft Tissue:
hypotonia

Neurologic Peripheral Nervous System:
sensory neuropathy

Clinical features from OMIM:

617917

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

Anatomical Context for Neurodegeneration with Brain Iron Accumulation 8

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

42
Brain, Eye

Publications for Neurodegeneration with Brain Iron Accumulation 8

Articles related to Neurodegeneration with Brain Iron Accumulation 8:

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

Variations for Neurodegeneration with Brain Iron Accumulation 8

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CRAT NM_000755.4(CRAT): c.962G> A (p.Arg321His) single nucleotide variant Pathogenic rs138665095 GRCh38 Chromosome 9, 129100533: 129100533
2 CRAT NM_000755.4(CRAT): c.962G> A (p.Arg321His) single nucleotide variant Pathogenic rs138665095 GRCh37 Chromosome 9, 131862812: 131862812

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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