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13 Possible Causes for Mutation in the SDHAF1 Gene, Possibly Lactic Acidosis upon Stress or Infection

  • Isolated Succinate-CoQ Reductase Deficiency

    Gene Human Gene Mutation Database (HGMD) SDHAF1 SNPedia medical, phenotypic, and genealogical associations of SNPs for SDHAF1 No data available for Polymorphic Variants from[genecards.org] Inheriting two SDHAF1 gene mutations can cause severe progressive leukoencephalopathy beginning in infancy.[rarediseases.info.nih.gov] It has material basis in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q,[zfin.org]

  • Isolated Complex I Deficiency

    Discussion Mutation analysis of the SDHAF1 gene revealed mutations in five patients with SDH-defective infantile leukoencephalopathy.[ojrd.biomedcentral.com] It has material basis in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q,[zfin.org] Molecular genetic analysis Sequencing of the SDHAF1 gene in both patients revealed no known or potentially pathogenic mutations.[jmg.bmj.com]

    Missing: Possibly Lactic Acidosis upon Stress or Infection
  • TMEM70-Related Mitochondrial Encephalo-Cardio-Myopathy

    By homozygosity mapping and candidate gene analyses, mutations in the SDHAF1 gene were identified in patients with infantile leukoencephalopathy and isolated CII deficiency[em-consulte.com] SDHAF1 mutations lead to reduced amounts of the complex.[em-consulte.com] CII deficiency represents a rare cause of mitochondrial disorders although, recently, two genes involved in its assembly have been found in humans.[em-consulte.com]

    Missing: Possibly Lactic Acidosis upon Stress or Infection
  • Presenile Dementia with Bone Cysts

    Some patients manifest Leigh syndrome or Kearns-Sayre syndrome. [ read more ] 12794685 SDHAF1 causing MT-C2D 252011 The disease is caused by mutations affecting the gene represented[nectarmutation.org]

    Missing: Possibly Lactic Acidosis upon Stress or Infection
  • Hereditary Myopathy with Lactic Acidosis due to ISCU Deficiency

    By homozygosity mapping and candidate gene analyses, mutations in the SDHAF1 gene were identified in patients with infantile leukoencephalopathy and isolated CII deficiency[em-consulte.com] SDHAF1 mutations lead to reduced amounts of the complex.[em-consulte.com] CII deficiency represents a rare cause of mitochondrial disorders although, recently, two genes involved in its assembly have been found in humans.[em-consulte.com]

    Missing: Possibly Lactic Acidosis upon Stress or Infection
  • Mitochondrial Complex 3 Deficiency

    By homozygosity mapping and candidate gene analyses, mutations in the SDHAF1 gene were identified in patients with infantile leukoencephalopathy and isolated CII deficiency[em-consulte.com] SDHAF1 mutations lead to reduced amounts of the complex.[em-consulte.com] CII deficiency represents a rare cause of mitochondrial disorders although, recently, two genes involved in its assembly have been found in humans.[em-consulte.com]

    Missing: Possibly Lactic Acidosis upon Stress or Infection
  • MERRF Syndrome

    […] lactic acidosis (complex III deficiency) ( UQCRB ) Mutated genes encoding assembly factors 1 Leigh syndrome ( SURF1, LRPPRC ) Hepatopathy & ketoacidosis ( SCO1 ) Cardiomyopathy[ncbi.nlm.nih.gov] […] w/complex II deficiency ( SDHAF1 ) Cardiomyopathy & encephalopathy (complex I deficiency) ( NDUFS2 ) Optic atrophy & ataxia (complex II deficiency) ( SDHA ) Hypokalemia &[ncbi.nlm.nih.gov] Genetic Classification of Human Mitochondrial Disorders: Mutation of Nuclear DNA Disorders Mutation of Nuclear DNA Nuclear genetic disorders of the mt respiratory chain Mutated[ncbi.nlm.nih.gov]

    Missing: Possibly Lactic Acidosis upon Stress or Infection
  • Mitochondrial Disease

    […] lactic acidosis (complex III deficiency) ( UQCRB ) Mutated genes encoding assembly factors 1 Leigh syndrome ( SURF1, LRPPRC ) Hepatopathy & ketoacidosis ( SCO1 ) Cardiomyopathy[ncbi.nlm.nih.gov] […] w/complex II deficiency ( SDHAF1 ) Cardiomyopathy & encephalopathy (complex I deficiency) ( NDUFS2 ) Optic atrophy & ataxia (complex II deficiency) ( SDHA ) Hypokalemia &[ncbi.nlm.nih.gov] Genetic Classification of Human Mitochondrial Disorders: Mutation of Nuclear DNA Disorders Mutation of Nuclear DNA Nuclear genetic disorders of the mt respiratory chain Mutated[ncbi.nlm.nih.gov]

    Missing: Possibly Lactic Acidosis upon Stress or Infection
  • Dowling-Degos Disease

    […] in the TPM2, TNNI2 and TNNT3 genes Screening of the most frequent mutations in the TNNI2 and TNNT3 genes SDHA Sequence analysis SDHAF1 Sequence analysis SDHB Sequence analysis[genetests.org] SCN1A-Related Seizure Disorders Test SCN9A-Related Generalized Epilepsy with Febrile Seizures Plus Test SCN9A-Related Inherited Erythromelalgia Test Screening of frequent mutations[genetests.org]

    Missing: Possibly Lactic Acidosis upon Stress or Infection
  • Combined Oxidative Phosphorylation Defect Type 11

    By homozygosity mapping and candidate gene analyses, mutations in the SDHAF1 gene were identified in patients with infantile leukoencephalopathy and isolated CII deficiency[em-consulte.com] SDHAF1 mutations lead to reduced amounts of the complex.[em-consulte.com] CII deficiency represents a rare cause of mitochondrial disorders although, recently, two genes involved in its assembly have been found in humans.[em-consulte.com]

    Missing: Possibly Lactic Acidosis upon Stress or Infection

Further symptoms