NBIA7
MCID: NRD047
MIFTS: 20

Neurodegeneration with Brain Iron Accumulation 7 (NBIA7)

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

Aliases & Classifications for Neurodegeneration with Brain Iron Accumulation 7

MalaCards integrated aliases for Neurodegeneration with Brain Iron Accumulation 7:

Name: Neurodegeneration with Brain Iron Accumulation 7 57 75 6
Nbia7 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
two french sisters have been reported (last curated march 2018)


HPO:

32
neurodegeneration with brain iron accumulation 7:
Onset and clinical course progressive


Classifications:



Summaries for Neurodegeneration with Brain Iron Accumulation 7

UniProtKB/Swiss-Prot : 75 Neurodegeneration with brain iron accumulation 7: A neurodegenerative disorder associated with iron accumulation, primarily in the basal ganglia. Clinical features include speech and motor delay, truncal hypotonia, progressive cerebellar ataxia, and loss of ambulation. NBIA7 transmission pattern is consistent with autosomal recessive inheritance.

MalaCards based summary : Neurodegeneration with Brain Iron Accumulation 7, is also known as nbia7. An important gene associated with Neurodegeneration with Brain Iron Accumulation 7 is REPS1 (RALBP1 Associated Eps Domain Containing 1). Affiliated tissues include brain and eye, and related phenotypes are spasticity and dysarthria

Description from OMIM: 617916

Related Diseases for Neurodegeneration with Brain Iron Accumulation 7

Symptoms & Phenotypes for Neurodegeneration with Brain Iron Accumulation 7

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus

Skeletal Feet:
pes cavus

Abdomen Gastrointestinal:
swallowing difficulties

Neurologic Central Nervous System:
dysarthria
dysmetria
cerebellar atrophy
cerebral atrophy
loss of ability to walk
more
Muscle Soft Tissue:
hypotonia


Clinical features from OMIM:

617916

Human phenotypes related to Neurodegeneration with Brain Iron Accumulation 7:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 spasticity 32 HP:0001257
2 dysarthria 32 HP:0001260
3 delayed speech and language development 32 HP:0000750
4 dysmetria 32 HP:0001310
5 cerebellar atrophy 32 HP:0001272
6 hypoplasia of the corpus callosum 32 HP:0002079
7 cerebral atrophy 32 HP:0002059
8 loss of ability to walk 32 HP:0006957
9 delayed ability to walk 32 HP:0031936

Drugs & Therapeutics for Neurodegeneration with Brain Iron Accumulation 7

Search Clinical Trials , NIH Clinical Center for Neurodegeneration with Brain Iron Accumulation 7

Genetic Tests for Neurodegeneration with Brain Iron Accumulation 7

Anatomical Context for Neurodegeneration with Brain Iron Accumulation 7

MalaCards organs/tissues related to Neurodegeneration with Brain Iron Accumulation 7:

41
Brain, Eye

Publications for Neurodegeneration with Brain Iron Accumulation 7

Variations for Neurodegeneration with Brain Iron Accumulation 7

UniProtKB/Swiss-Prot genetic disease variations for Neurodegeneration with Brain Iron Accumulation 7:

75
# Symbol AA change Variation ID SNP ID
1 REPS1 p.Val78Leu VAR_080634
2 REPS1 p.Ala113Glu VAR_080635 rs201191394

ClinVar genetic disease variations for Neurodegeneration with Brain Iron Accumulation 7:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 REPS1 NM_031922.4(REPS1): c.232G> C (p.Val78Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 6, 139268972: 139268972
2 REPS1 NM_031922.4(REPS1): c.232G> C (p.Val78Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 6, 138947835: 138947835
3 REPS1 NM_001286611.1(REPS1): c.338C> A (p.Ala113Glu) single nucleotide variant Pathogenic rs201191394 GRCh37 Chromosome 6, 139266774: 139266774
4 REPS1 NM_001286611.1(REPS1): c.338C> A (p.Ala113Glu) single nucleotide variant Pathogenic rs201191394 GRCh38 Chromosome 6, 138945637: 138945637

Expression for Neurodegeneration with Brain Iron Accumulation 7

Search GEO for disease gene expression data for Neurodegeneration with Brain Iron Accumulation 7.

Pathways for Neurodegeneration with Brain Iron Accumulation 7

GO Terms for Neurodegeneration with Brain Iron Accumulation 7

Sources for Neurodegeneration with Brain Iron Accumulation 7

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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