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  3. MDH2

MDH2 gene related symptoms and diseases

All the information presented here about the MDH2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to MDH2 gene

Symptoms // Phenotype % Cases
Tremor Uncommon - Between 30% and 50% cases
Cerebral atrophy Uncommon - Between 30% and 50% cases
Elevated urinary norepinephrine Uncommon - Between 30% and 50% cases
Positive regitine blocking test Uncommon - Between 30% and 50% cases
Paroxysmal vertigo Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with MDH2 gene alterations may also develop some of the following symptoms and phenotypes:

  • Not very common - Between 30% and 50% cases

  • Arachnoid hemangiomatosis
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Strabismus
  • Feeding difficulties
  • Skeletal muscle atrophy

And 56 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to MDH2 gene

Here you will find a list of rare diseases related to the MDH2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA

Alternate names

HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA Is also known as familial pheochromocytoma-paraganglioma

Description

Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term).

Most common symptoms of HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA

  • Tremor
  • Fatigue
  • Congestive heart failure
  • Weight loss
  • Conductive hearing impairment


More info about HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA

SOURCES: ORPHANET

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51; EIEE51

Description

Early infantile epileptic encephalopathy-51 is an autosomal recessive severe neurodevelopmental disorder characterized by onset of intractable seizures and hypotonia in the first days or weeks of life. Affected individuals have severely delayed psychomotor development and may show abnormal movements. Brain imaging shows nonspecific abnormalities, such as cerebral atrophy, cerebellar atrophy, and delayed myelination. Laboratory studies showed increased lactate, suggesting mitochondrial dysfunction (summary by Ait-El-Mkadem et al., 2017).For a discussion of genetic heterogeneity of EIEE, see {308350}.

Most common symptoms of EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51; EIEE51

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Strabismus


More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51; EIEE51

SOURCES: OMIM


Potential gene panels for MDH2 gene

Dystonia Exome Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Dystonia Exome Panel that also includes the following genes: BCS1L SCN8A SCP2 SDHA SGCE SLC16A2 SLC20A2 SLC2A1 SLC6A3 SLC6A8

More info about this panel
United States.

Epilepsy and Seizure Plus Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Epilepsy and Seizure Plus Sequencing Panel with CNV Detection that also includes the following genes: RORB RYR3 SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SGCE

More info about this panel
United States.

MDH2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MDH2 gene.

More info about this panel
United States.

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