Melas

Description

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

Clinical Features

Top most frequent phenotypes and symptoms related to Melas

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Growth delay
  • Hypertelorism
  • Nystagmus

And another 280 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 MELAS have a estimated prevalence of 0.6 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Melas Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes, melas syndrome, mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes.

Researches and researchers

Doctors, researchs, and experts related to Melas extracted from public data.

Melas Experts map



Current Researchs and researchers

  • NIJMEGEN — Pr J.A.M. [Jan] SMEITINK

    Coordinator of expert centre - Investigator of research project - Coordinator of research network

    • Institution/s:
      — Afdeling Metabole Ziekten Kinderen, Radboudumc - Radboud universitair medisch centrum
    • Research area/topic::

      Towards treatment of MELAS syndrome: drug development based on newly identified compounds


  • SEVILLA — Dr Jose Antonio SÁNCHEZ ALCAZAR

    Investigator of research project

    • Institution/s:
      — Centro Andaluz de Biología del Desarrollo (CABD)
    • Research area/topic::

      New therapeutic targets in mitochondrial diseases



Mendelian

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Melas Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Evaluation (TYMP, RRM2B, MELAS).

By Athena Diagnostics Inc (United States).

RRM2B, TYMP, MT-TL1
Specificity
34 %
Genes
5 %
Progressive External Ophthalmoplegia Evaluation (POLG, TWINKLE, ANT1, OPA1, MELAS).

By Athena Diagnostics Inc (United States).

SLC25A4, TWNK, MT-TL1, OPA1, POLG
Specificity
20 %
Genes
5 %
Common Mitochondrial Disorders Evaluation (POLG, MELAS, MERRF, NARP).

By Athena Diagnostics Inc (United States).

MT-TK, MT-TL1, POLG
Specificity
67 %
Genes
9 %
MELAS mtDNA Evaluation.

By Athena Diagnostics Inc (United States).

MT-TL1
Specificity
100 %
Genes
5 %
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke.

By Center for Human Genetics, Inc (United States).

MT-TL1
Specificity
100 %
Genes
5 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics (United States).

ROR1, SIX1, SIX5, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TWNK, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN , (...)

View the complete list with 130 more genes
Specificity
2 %
Genes
9 %
Comprehensive Mitochondrial Metabolic Panel.

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

BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, BTD, SUCLA2, SUCLG1, SURF1, TAZ, TWNK, TCN2, TFAM, TIMM8A , (...)

View the complete list with 173 more genes
Specificity
10 %
Genes
83 %
Mitochondrial Genome Sequence.

By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).

MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH , (...)

View the complete list with 15 more genes
Specificity
52 %
Genes
79 %

We have 263 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH 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 MITCHELL-RILEY SYNDROME; MTCHRS MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE); MTDPS1 JUNCTIONAL EPIDERMOLYSIS BULLOSA, GENERALIZED SEVERE EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 39; EIEE39 HYPERTRICHOSIS UNIVERSALIS CONGENITA, AMBRAS TYPE; HTC1 EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT

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