Mitochondrial Neurogastrointestinal Encephalomyopathy

Description

Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.

Clinical Features

Top most frequent phenotypes and symptoms related to Mitochondrial Neurogastrointestinal Encephalomyopathy

  • Intellectual disability
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Pain
  • Ptosis
  • Anemia
  • Peripheral neuropathy
  • Dysarthria

And another 82 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY have a estimated prevalence of 0.1 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Mitochondrial Neurogastrointestinal Encephalomyopathy Is also known as myoneurogastrointestinal encephalopathy syndrome, polip syndrome, mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related, polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction, mngie, mngie, tymp-related.

Researches and researchers

Doctors, researchs, and experts related to Mitochondrial Neurogastrointestinal Encephalomyopathy extracted from public data.

Mitochondrial Neurogastrointestinal Encephalomyopathy Experts map



Current Researchs and researchers

  • BARCELONA — Dr Jordi BARQUINERO

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Vall d'Hebron Institut de Recerca VHIR
    • Research area/topic::

      New strategies to improve efficacy and reduce immunogenicity in gene therapy of hereditary diseases


  • BARCELONA — Dr Ramón MARTÍ SEVES

    Responsible for diagnostic tests - Investigator of research project - Manager of registry

    • Institution/s:
      — Vall d'Hebron Institut de Recerca VHIR
    • Research area/topic::

      Optimization of adeno-associated vectors using the TYMP gene for MNGIE gene therapy


  • BIRMINGHAM — Dr Anupam CHAKRAPANI

    Clinical expert - Principal investigator of clinical trial - Contact person of registry - Coordinator of research network

    • Institution/s:
      — Birmingham Children's Hospital NHS Foundation Trust
      — Birmingham Children's Hospital NHS Foundation Trust
    • Research area/topic::

      Midlands Muscle Network


  • LONDON — Dr Bridget E BAX

    Investigator of research project - Contact person of patient organisation

    • Institution/s:
      — Clinical Developmental Sciences, The Aplastic Anaemia Trust
      — St George's University of London
    • Research area/topic::

      MICA: Clinical development of erythrocyte encapsulated thymidine phosphorylase - a therapy for mitochondrial neurogastrointestinal encephalomyopathy


  • ST NEOTS — Dr Bridget E BAX

    Investigator of research project - Contact person of patient organisation

    • Institution/s:
      — Clinical Developmental Sciences, The Aplastic Anaemia Trust
      — St George's University of London
    • Research area/topic::

      MICA: Clinical development of erythrocyte encapsulated thymidine phosphorylase - a therapy for mitochondrial neurogastrointestinal encephalomyopathy



Mendelian

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Mitochondrial Neurogastrointestinal Encephalomyopathy Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
RRM2B Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RRM2B
Specificity
100 %
Genes
34 %
RRM2B Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RRM2B
Specificity
100 %
Genes
34 %
RRM2B Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RRM2B
Specificity
100 %
Genes
34 %
RRM2B Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

RRM2B
Specificity
100 %
Genes
34 %
mtDNA Depletion/Integrity Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories (United States).

SLC25A4, SUCLA2, SUCLG1, SUCLG2, TWNK, TK2, MGME1, RRM2B, DGUOK, TYMP, MPV17, OPA1, OPA3, POLG, POLG2
Specificity
20 %
Genes
100 %
PEO Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories (United States).

SLC25A4, TWNK, MGME1, RRM2B, OPA1, OPA3, POLG, POLG2
Specificity
25 %
Genes
67 %
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Evaluation (TYMP, RRM2B, MELAS).

By Athena Diagnostics Inc (United States).

RRM2B, TYMP, MT-TL1
Specificity
67 %
Genes
67 %

We have 248 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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