NBIA7
MCID: NRD047
MIFTS: 19

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 58 76 6
Nbia7 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
neurodegeneration with brain iron accumulation 7:
Onset and clinical course progressive


Classifications:



Summaries for Neurodegeneration with Brain Iron Accumulation 7

UniProtKB/Swiss-Prot : 76 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 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

Human phenotypes related to Neurodegeneration with Brain Iron Accumulation 7:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 spasticity 33 HP:0001257
2 dysarthria 33 HP:0001260
3 delayed speech and language development 33 HP:0000750
4 dysmetria 33 HP:0001310
5 cerebellar atrophy 33 HP:0001272
6 hypoplasia of the corpus callosum 33 HP:0002079
7 cerebral atrophy 33 HP:0002059
8 loss of ability to walk 33 HP:0006957
9 delayed ability to walk 33 HP:0031936

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
Brain

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:

76
# 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 rs1554292444 GRCh37 Chromosome 6, 139268972: 139268972
2 REPS1 NM_031922.4(REPS1): c.232G> C (p.Val78Leu) single nucleotide variant Pathogenic rs1554292444 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 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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