SDHAF1 gene related symptoms and diseases

All the information presented here about the SDHAF1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to SDHAF1 gene

Symptoms // Phenotype	% Cases
Seizures	Very Common - Between 80% and 100% cases
Generalized myoclonic seizures	Very Common - Between 80% and 100% cases
Congenital hip dislocation	Very Common - Between 80% and 100% cases
Leukodystrophy	Very Common - Between 80% and 100% cases
Mitral regurgitation	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SDHAF1 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Spastic tetraplegia
Pigmentary retinopathy
Increased serum lactate
Generalized muscle weakness
External ophthalmoplegia
Tetraplegia
Lactic acidosis
Ophthalmoplegia

And 58 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SDHAF1 gene

Here you will find a list of rare diseases related to the SDHAF1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY

Alternate names

ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY Is also known as isolated succinate-ubiquinone reductase deficiency, isolated succinate-coenzyme q reductase deficiency, isolated mitochondrial respiratory chain complex ii deficiency, succinate coq reductase deficiency

Description

Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).

Most common symptoms of ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY

Seizures
Global developmental delay
Short stature
Generalized hypotonia
Microcephaly

More info about ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY

SOURCES: OMIM ORPHANET MESH

Search interest in SDHAF1

Potential gene panels for SDHAF1 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

SDHAF1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to SDHAF1 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to SDHAF1 gene

ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY

Alternate names

Description

Most common symptoms of ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY

Search interest in SDHAF1

Potential gene panels for SDHAF1 gene

MitoMet®Plus aCGH Analysis Panel

SDHAF1 Sequence Analysis Panel

SDHAF1 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

SDHAF1 Deletion/Duplication Analysis Panel

SDHAF1 Sequence Analysis (Prenatal Diagnosis) Panel

Comprehensive Mitochondrial Metabolic Panel Panel

Dystonia Panel

Movement Disorders Panel Panel

Respiratory Chain Deficiency Panel

Dystonia Exome Panel Panel

Ataxia Exome Panel Panel

Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel

Mitochondrial complex II deficiency (sequence analysis of SDHAF1 gene) Panel

Mitochondrial Complex II Deficiency Sequencing Panel with CNV Detection Panel

Infantile Leukoencephalopathy Due to Mitochondrial Complex II Deficiency via SDHAF1 Gene Sequencing with CNV Detection Panel

Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection Panel

Leigh and Leigh-Like Syndrome Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

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

Mitochondrial Respiratory Chain Complex II Deficiency, SDHAF1-Related Panel

Leigh Syndrome Panel

Mitochondrial Leucodystrophy Panel

Leigh Syndrome (nuclear DNA mutation) Panel

Mitochondrial Respiratory Chain Complex II Deficiency, SDHA-Related Panel

Neurogenetic Disorders - panels Panel

Epilepsy and Mitochondrial Encephalopathy Panel

Mitochondrial Diseases Panel

Complex II Defect Panel

Mitochondrial Encephalopathy Panel

Epilepsy Panel

Mitochondrial complex II deficiency Panel

Mitochondrial complex II deficiency Panel

AllNeuro panel Panel

CentoICU platinum plus Panel

New Born testing (CentoICU) Panel

Nuclear encoded Mitochondriopathies Panel Panel

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

Mitochondrial Diseases (mtDNA and 133 nuclear genes) Panel

Leukodistrophy Panel

Mitochondrial respiratory chain complex II, III, and IV deficiency Panel

Mitochondrial Diseases: Sequencing Panel Panel

Dystonia: Sequencing Panel Panel

Nuclear-Mito NGS Panel Panel

SDHAF1 Panel

Epileptic Encephalopathy Panel Panel

Leukodystrophy and Leukoencephalopathy Panel Panel

Comprehensive Epilepsy Panel Panel

MITOCHONDRIAL COMPLEX 2 DEFICIENCY (NUCLEAR GENE) Panel

Leukodystrophies , Panel Massive Sequencing (NGS) 57 genes Panel