Mitochondrial Membrane Protein-associated Neurodegeneration

Description

Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities.

Clinical Features

Top most frequent phenotypes and symptoms related to Mitochondrial Membrane Protein-associated Neurodegeneration

  • Seizures
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Spasticity
  • Cognitive impairment
  • Delayed speech and language development
  • Visual impairment
  • Peripheral neuropathy
  • Hyperreflexia

And another 69 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available MITOCHONDRIAL MEMBRANE PROTEIN-ASSOCIATED NEURODEGENERATION have a estimated prevalence of 0.1 per 100k in Europe.
— The onset for some of the known clinical features related to this disease may vary, including late onset .

Alternative names

Mitochondrial Membrane Protein-associated Neurodegeneration Is also known as mpan, nbia due to c19orf12 mutation, mitochondrial protein-associated neurodegeneration, neurodegeneration with brain iron accumulation type 4, nbia4, neurodegeneration with brain iron accumulation due to c19orf12 mutation.

Researches and researchers

Doctors, researchs, and experts related to Mitochondrial Membrane Protein-associated Neurodegeneration extracted from public data.

Mitochondrial Membrane Protein-associated Neurodegeneration Experts map



Current Researchs and researchers

  • BORDEAUX — Dr Patricia FERGELOT

    Responsible for diagnostic tests - Investigator of research project

    • Institution/s:
      — Plateau Technique de Biologie Moléculaire (PTBM) - Tripode 1er étage, CHU de Bordeaux-GH Pellegrin
    • Research area/topic::

      Diagnosis of NBIA: analysis of genetic heterogeneity and validation of mitochondrial markers for variant pathogenicity


Mitochondrial Membrane Protein-associated Neurodegeneration Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Spastic Paraplegia Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, ACOX1, TREX1, UCHL1, VAMP1, ERLIN2, CAPN1, BSCL2, SAMHD1, PNPLA6, ERLIN1 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Mitochondrial-Membrane Protein-Associated Neurodegeneration (MPAN), c19orf12 Sequencing.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

C19orf12
Specificity
100 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SQSTM1, PANK2, TRIM32, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6
Specificity
8 %
Genes
100 %
Dystonia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SPR, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, FBXO7, CACNA1A, NPC2, PINK1, PANK2, SAMHD1, APTX , (...)

View the complete list with 57 more genes
Specificity
2 %
Genes
100 %
Movement Disorders Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCP2, SGCE, SLC20A2, SLC2A1, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, TAF1, TH, TIMM8A, TREX1, MCOLN1, VPS35, FBXO7, CACNA1A, NPC2, PINK1 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Sequencing and Deletion/Duplication.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SQSTM1, PANK2, TRIM32, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6
Specificity
8 %
Genes
100 %
Neurodegeneration with Brain Iron Accumulation (NBIA) Panel, Deletion/Duplication.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SQSTM1, PANK2, TRIM32, FA2H, CP, C19orf12, DCAF17, WDR45, COASY, ATP13A2, FTL, FUCA1, KIF1A, PLA2G6
Specificity
8 %
Genes
100 %
Hereditary Spastic Paraplegia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, VAMP1, ERLIN2, CAPN1, BSCL2, PNPLA6, ERLIN1, NIPA1, GJC2, EXOSC3, SPART, CPT1C , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
100 %

You can get up to 51 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPES I AND III HYPERINSULINISM DUE TO HNF4A DEFICIENCY AICARDI-GOUTIERES SYNDROME 7; AGS7 SPINOCEREBELLAR ATAXIA 21; SCA21 HOLOPROSENCEPHALY 9; HPE9 MENTAL RETARDATION, X-LINKED 103; MRX103 MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES; MISSLA