NDUFA1 gene related symptoms and diseases

All the information presented here about the NDUFA1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,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 NDUFA1 gene

Symptoms // Phenotype	% Cases
Intellectual disability	Very Common - Between 80% and 100% cases
Left ventricular hypertrophy	Very Common - Between 80% and 100% cases
Pigmentary retinopathy	Very Common - Between 80% and 100% cases
Optic disc pallor	Very Common - Between 80% and 100% cases
Congenital diaphragmatic hernia	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with NDUFA1 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Cardiomegaly
Coarctation of aorta
Ventricular hypertrophy
Wide anterior fontanel
Febrile seizures
Leukodystrophy
Aspiration
Cardiac arrest

And 132 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to NDUFA1 gene

Here you will find a list of rare diseases related to the NDUFA1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

ISOLATED COMPLEX I DEFICIENCY

Alternate names

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency, nadh:q(1) oxidoreductase deficiency, isolated nadh-coq reductase deficiency, isolated mitochondrial respiratory chain complex i deficiency, isolated nadh-coenzyme q reductase deficiency, nadh-coenzyme q reductase

Description

Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

Most common symptoms of ISOLATED COMPLEX I DEFICIENCY

Intellectual disability
Seizures
Global developmental delay
Generalized hypotonia
Hearing impairment

More info about ISOLATED COMPLEX I DEFICIENCY

SOURCES: ORPHANET MESH OMIM

Search interest in NDUFA1

Potential gene panels for NDUFA1 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

NDUFA1 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to NDUFA1 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to NDUFA1 gene

ISOLATED COMPLEX I DEFICIENCY

Alternate names

Description

Most common symptoms of ISOLATED COMPLEX I DEFICIENCY

Search interest in NDUFA1

Potential gene panels for NDUFA1 gene

MitoMet®Plus aCGH Analysis Panel

NDUFA1 Sequence Analysis (Prenatal Diagnosis) Panel

NDUFA1 Deletion/Duplication Analysis Panel

NDUFA1 Sequence Analysis Panel

NDUFA1 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

NGS XLID Panel Panel

NGS Epilepsy/Seizure Panel Panel

Comprehensive Mitochondrial Metabolic Panel Panel

Respiratory Chain Deficiency Panel

X-Linked Intellectual Disabilities Deletion/Duplication Panel

X-linked Intellectual Disabilities Sequencing Panel

X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication Panel

Ataxia Exome Panel Panel

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

CustomNext: Neuro Panel

Neurodevelopment-Expanded Panel

NDUFA1 gene sequence Panel

IDNext Panel

Mitochondrial complex I deficiency (sequence analysis of NDUFA1 gene) Panel

Mental retardation, X-linked (NGS panel for 89 genes) Panel

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

Mitochondrial Complex I Deficiency via NDUFA1 Gene Sequencing 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

Mental retardation - different panels Panel

Mitochondrial Respiratory Chain Complex I Deficiency (Nuclear Genes) Panel

Neurogenetic Disorders - panels Panel

Mental Retardation and Dysmorphology - panels Panel

Syndromal Diseases - panels Panel

X-Linked Mental Retardation Panel

Epilepsy and Mitochondrial Encephalopathy Panel

Mitochondrial Diseases Panel

Mitochondrial Encephalopathy Panel

Epilepsy Panel

Complex I Defect Panel

Mitochondrial complex I deficiency Panel

Comprehensive mitochondrial disorders panel Panel

AllNeuro panel Panel

Nuclear encoded Mitochondriopathies Panel Panel

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

Mitochondrial Diseases (mtDNA and 133 nuclear genes) Panel

NDUFA1-Related Mitochondrial Complex I Deficiency: NDUFA1 Full Gene Sequencing Panel

NDUFA1-Related Mitochondrial Complex I Deficiency: NDUFA1 Gene Deletion/Duplication Panel

Epilepsy and Seizure Disorders: Sequencing Panel Panel

X-linked Intellectual Disability: Gene Sequencing and Deletion/Duplication Panel Panel

Mitochondrial Diseases: Sequencing Panel Panel

Epilepsy and Seizure Disorders: Deletion/Duplication Panel Panel

Epilepsy NGS Panel Panel

Intellectual Disability NGS Panel Panel

Nuclear-Mito NGS Panel Panel

XLID NGS Panel Panel

NDUFA1 Panel

Comprehensive Epilepsy NGS Panel Panel

X-linked Intellectual Disability Panel Panel

MITOCHONDRIAL COMPLEX 1 DEFICIENCY (NUCLEAR GENE): NGS PANEL Panel

MITOCHONDRIAL COMPLEX 1 DEFICIENCY (NUCLEAR GENE) Panel