MCID: MTC036
MIFTS: 19

Mitochondrial Membrane Protein-Associated Neurodegeneration

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Mitochondrial Membrane Protein-Associated Neurodegeneration

MalaCards integrated aliases for Mitochondrial Membrane Protein-Associated Neurodegeneration:

Name: Mitochondrial Membrane Protein-Associated Neurodegeneration 23 49 24
Neurodegeneration with Brain Iron Accumulation 4 49 24 69
Nbia4 23 49 24
Mpan 49 24
Mitochondrial Membrane Protein-Associated Neurodegeneration Due to C19orf12 Mutation 24
Neurodegeneration with Brain Iron Accumulation Due to C19orf12 Mutation 49
Neurodegeneration with Brain Iron Accumulation Type 4 49
Mitochondrial Protein-Associated Neurodegeneration 24
Nbia Due to C19orf12 Mutation 49

Classifications:



External Ids:

UMLS 69 C3280371

Summaries for Mitochondrial Membrane Protein-Associated Neurodegeneration

Genetics Home Reference : 24 Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a disorder of the nervous system. The condition typically begins in childhood or early adulthood and worsens (progresses) over time.

MalaCards based summary : Mitochondrial Membrane Protein-Associated Neurodegeneration, also known as neurodegeneration with brain iron accumulation 4, is related to neurodegeneration with brain iron accumulation 4, and has symptoms including ataxia, muscle spasticity and tremor. An important gene associated with Mitochondrial Membrane Protein-Associated Neurodegeneration is C19orf12 (Chromosome 19 Open Reading Frame 12). Affiliated tissues include brain and eye.

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Pantothenate kinase-associated neurodegeneration and Neurodegeneration with brain iron accumulation.

GeneReviews: NBK185329

Related Diseases for Mitochondrial Membrane Protein-Associated Neurodegeneration

Diseases related to Mitochondrial Membrane Protein-Associated Neurodegeneration via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 4 11.6

Symptoms & Phenotypes for Mitochondrial Membrane Protein-Associated Neurodegeneration

UMLS symptoms related to Mitochondrial Membrane Protein-Associated Neurodegeneration:


ataxia, muscle spasticity, tremor, abnormal pyramidal signs, abnormality of extrapyramidal motor function, oromandibular dystonia

Drugs & Therapeutics for Mitochondrial Membrane Protein-Associated Neurodegeneration

Search Clinical Trials , NIH Clinical Center for Mitochondrial Membrane Protein-Associated Neurodegeneration

Genetic Tests for Mitochondrial Membrane Protein-Associated Neurodegeneration

Anatomical Context for Mitochondrial Membrane Protein-Associated Neurodegeneration

MalaCards organs/tissues related to Mitochondrial Membrane Protein-Associated Neurodegeneration:

38
Brain, Eye

Publications for Mitochondrial Membrane Protein-Associated Neurodegeneration

Articles related to Mitochondrial Membrane Protein-Associated Neurodegeneration:

(show all 14)
# Title Authors Year
1
Transcranial Sonography in Mitochondrial Membrane Protein-Associated Neurodegeneration. ( 28352978 )
2017
2
Mitochondrial membrane protein-associated neurodegeneration. ( 28359667 )
2017
3
A Novel Deletion Mutation of Exon 2 of the C19orf12 Gene in an Omani Family with Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN). ( 28042406 )
2017
4
"Eye of tiger sign" mimic in an adolescent boy with mitochondrial membrane protein associated neurodegeneration (MPAN). ( 26602591 )
2016
5
Mitochondrial membrane protein-associated neurodegeneration in a Turkish patient. ( 27857812 )
2016
6
Mitochondrial Membrane Protein-Associated Neurodegeneration Mimicking Juvenile Amyotrophic LateralA Sclerosis. ( 27671242 )
2016
7
Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN). ( 27801611 )
2016
8
Eye of the tiger sign in a 23year patient with mitochondrial membrane protein associated neurodegeneration. ( 25819119 )
2015
9
Mitochondrial Membrane Protein-Associated Neurodegeneration. ( 26231266 )
2015
10
Brain iron quantification by MRI in mitochondrial membrane protein-associated neurodegeneration under iron-chelating therapy. ( 25574478 )
2014
11
Mitochondrial membrane protein-associated neurodegeneration (MPAN). ( 24209434 )
2013
12
Rapid disease progression in adult-onset mitochondrial membrane protein-associated neurodegeneration. ( 23278385 )
2013
13
Transcranial sonography in mitochondrial membrane protein-associated neurodegeneration. ( 23871464 )
2013
14
Mitochondrial Membrane Protein-Associated Neurodegeneration ( 24575447 )
1993

Variations for Mitochondrial Membrane Protein-Associated Neurodegeneration

ClinVar genetic disease variations for Mitochondrial Membrane Protein-Associated Neurodegeneration:

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 C19orf12 C19ORF12, 11-BP DEL, NT204 deletion Pathogenic
2 C19orf12 NM_001031726.3(C19orf12): c.32C> T (p.Thr11Met) single nucleotide variant Pathogenic rs397514477 GRCh37 Chromosome 19, 30199322: 30199322
3 C19orf12 C19ORF12, GLY69ARG undetermined variant Pathogenic
4 C19orf12 NM_001256047.1(C19orf12): c.362T> A (p.Leu121Gln) single nucleotide variant Pathogenic rs387907173 GRCh37 Chromosome 19, 30193683: 30193683
5 C19orf12 NM_001031726.3(C19orf12): c.187G> C (p.Ala63Pro) single nucleotide variant Pathogenic/Likely pathogenic rs376103979 GRCh37 Chromosome 19, 30199167: 30199167
6 C19orf12 NM_001256047.1(C19orf12): c.164_166delGGG (p.Gly55del) deletion Pathogenic rs398122409 GRCh37 Chromosome 19, 30193879: 30193881
7 C19orf12 NM_001256047.1(C19orf12): c.171_181delCGGGGGGCTGT (p.Gly58Argfs) deletion Pathogenic rs515726204 GRCh38 Chromosome 19, 29702957: 29702967
8 C19orf12 NM_001031726.3(C19orf12): c.205G> A (p.Gly69Arg) single nucleotide variant Pathogenic rs515726205 GRCh37 Chromosome 19, 30193873: 30193873
9 C19orf12 NM_001031726.3(C19orf12): c.157G> A (p.Gly53Arg) single nucleotide variant Pathogenic/Likely pathogenic rs200133991 GRCh38 Chromosome 19, 29708290: 29708290
10 C19orf12 NM_001031726.3(C19orf12): c.258_259delGAinsTGGAGGAACAGT (p.Gln86Hisfs) indel Pathogenic rs797045423 GRCh37 Chromosome 19, 30193819: 30193820
11 C19orf12 NM_001256047.1(C19orf12): c.215C> T (p.Pro72Leu) single nucleotide variant Pathogenic rs201987973 GRCh38 Chromosome 19, 29702923: 29702923
12 C19orf12 NM_001031726.3(C19orf12): c.194-2del deletion Pathogenic GRCh37 Chromosome 19, 30193886: 30193886

Expression for Mitochondrial Membrane Protein-Associated Neurodegeneration

Search GEO for disease gene expression data for Mitochondrial Membrane Protein-Associated Neurodegeneration.

Pathways for Mitochondrial Membrane Protein-Associated Neurodegeneration

GO Terms for Mitochondrial Membrane Protein-Associated Neurodegeneration

Sources for Mitochondrial Membrane Protein-Associated Neurodegeneration

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