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 57 75 6
Nbia8 57 75

Characteristics:

OMIM:

57
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:

32
neurodegeneration with brain iron accumulation 8:
Onset and clinical course progressive


Classifications:



Summaries for Neurodegeneration with Brain Iron Accumulation 8

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Neurodegeneration with Brain Iron Accumulation 8:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 tremor 32 HP:0001337
2 hyperreflexia 32 HP:0001347
3 delayed speech and language development 32 HP:0000750
4 dysmetria 32 HP:0001310
5 motor delay 32 HP:0001270
6 cerebellar atrophy 32 HP:0001272
7 unsteady gait 32 HP:0002317
8 loss of ability to walk 32 HP:0006957

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:

41
Brain, Eye

Publications for Neurodegeneration with Brain Iron Accumulation 8

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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