NBIA7
MCID: NRD047
MIFTS: 22

Neurodegeneration with Brain Iron Accumulation 7 (NBIA7)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle 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 72 29 6
Nbia7 57 72

Characteristics:

OMIM®:

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

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


HPO:

31
neurodegeneration with brain iron accumulation 7:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:



Summaries for Neurodegeneration with Brain Iron Accumulation 7

UniProtKB/Swiss-Prot : 72 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 eye and brain, and related phenotypes are spasticity and nystagmus

OMIM® : 57 Neurodegeneration with brain iron accumulation-7 (NBIA7) is characterized by iron accumulation in the basal ganglia and manifests as a progressive extrapyramidal syndrome with dystonia, rigidity, and choreoathetosis. Severity and rate of progression are variable (Drecourt et al., 2018). (617916) (Updated 20-May-2021)

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:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 HP:0001257
2 nystagmus 31 HP:0000639
3 dysarthria 31 HP:0001260
4 dysphagia 31 HP:0002015
5 delayed speech and language development 31 HP:0000750
6 dysmetria 31 HP:0001310
7 pes cavus 31 HP:0001761
8 hypoplasia of the corpus callosum 31 HP:0002079
9 cerebellar atrophy 31 HP:0001272
10 cerebral atrophy 31 HP:0002059
11 loss of ability to walk 31 HP:0006957
12 generalized hypotonia 31 HP:0001290
13 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

Genetic tests related to Neurodegeneration with Brain Iron Accumulation 7:

# Genetic test Affiliating Genes
1 Neurodegeneration with Brain Iron Accumulation 7 29 REPS1

Anatomical Context for Neurodegeneration with Brain Iron Accumulation 7

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

40
Eye, Brain

Publications for Neurodegeneration with Brain Iron Accumulation 7

Articles related to Neurodegeneration with Brain Iron Accumulation 7:

# 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 7

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 REPS1 NM_031922.4(REPS1):c.232G>C (p.Val78Leu) SNV Pathogenic 503503 rs1554292444 GRCh37: 6:139268972-139268972
GRCh38: 6:138947835-138947835
2 REPS1 NM_001286611.1(REPS1):c.338C>A (p.Ala113Glu) SNV Pathogenic 503504 rs201191394 GRCh37: 6:139266774-139266774
GRCh38: 6:138945637-138945637
3 REPS1 NM_031922.4(REPS1):c.1924G>A (p.Asp642Asn) SNV Likely benign 638402 rs140387177 GRCh37: 6:139233946-139233946
GRCh38: 6:138912809-138912809
4 REPS1 NM_001286611.1(REPS1):c.2056C>T (p.Pro686Ser) SNV Likely benign 638403 rs144226246 GRCh37: 6:139232424-139232424
GRCh38: 6:138911287-138911287

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

72
# Symbol AA change Variation ID SNP ID
1 REPS1 p.Val78Leu VAR_080634 rs155429244
2 REPS1 p.Ala113Glu VAR_080635 rs201191394

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
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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