CYC1 gene related symptoms and diseases

All the information presented here about the CYC1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CYC1 gene

Symptoms // Phenotype % Cases
Encephalopathy Very Common - Between 80% and 100% cases
Elevated hepatic transaminase Very Common - Between 80% and 100% cases
Lactic acidosis Very Common - Between 80% and 100% cases
Hepatic failure Very Common - Between 80% and 100% cases
Coma Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CYC1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Increased serum lactate
  • Acidosis
  • Not very common - Between 30% and 50% cases

  • Cardiomegaly
  • Exercise intolerance
  • Aminoaciduria
  • Decreased liver function
  • Hallucinations
  • Cholestasis

And 78 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CYC1 gene

Here you will find a list of rare diseases related to the CYC1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6; MC3DN6


Description

Mitochondrial complex III deficiency nuclear type 6 (MC3DN6) is an autosomal recessive disorder caused by mitochondrial dysfunction. It is characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection. Laboratory studies show decreased activity of mitochondrial complex III. Psychomotor development is normal (summary by Gaignard et al., 2013).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Most common symptoms of MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6; MC3DN6

  • Encephalopathy
  • Acidosis
  • Elevated hepatic transaminase
  • Lactic acidosis
  • Hepatic failure


More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6; MC3DN6

SOURCES: OMIM

ISOLATED COMPLEX III DEFICIENCY


Alternate names

ISOLATED COMPLEX III DEFICIENCY Is also known as isolated coq-cytochrome c reductase deficiency, isolated ubiquinone-cytochrome c reductase deficiency, isolated mitochondrial respiratory chain complex iii deficiency, isolated coenzyme q-cytochrome c reductase deficiency

Description

Isolated complex III deficiency is a rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by a wide spectrum of clinical manifestations ranging from isolated myopathy or transient hepatopathy to severe multisystem disorder (that may include hypotonia, failure to thrive, psychomotor delay, cardiomyopathy, encephalopathy, renal tubulopathy, hearing impairment, lactic acidosis, hypoglycemia and other signs and symptoms).

Most common symptoms of ISOLATED COMPLEX III DEFICIENCY

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about ISOLATED COMPLEX III DEFICIENCY

SOURCES: ORPHANET OMIM


Potential gene panels for CYC1 gene

Mitochondrial Complex III Deficiency Sequencing Panel with CNV Detection (Nuclear Genes) Panel

United States.

By PreventionGenetics PreventionGenetics Mitochondrial Complex III Deficiency Sequencing Panel with CNV Detection (Nuclear Genes) that also includes the following genes: BCS1L UQCRB UQCRC2 UQCC2 CYC1 TTC19 LYRM7 UQCRQ UQCC3

More info about this panel

Mitochondrial Complex III Deficiency via CYC1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the CYC1 gene.

More info about this panel

Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L MRPL12 MRPL3 SCO1 SCO2 SDHB SDHD SLC25A1 SLC25A3 SLC25A4

More info about this panel

Nuclear encoded Mitochondriopathies Panel Panel

Germany.

By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD

More info about this panel


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