NDUFA13 gene related symptoms and diseases

All the information presented here about the NDUFA13 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NDUFA13 gene

Symptoms // Phenotype % Cases
Progressive cerebellar ataxia Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Acidosis Uncommon - Between 30% and 50% cases
Decreased activity of mitochondrial respiratory chain Uncommon - Between 30% and 50% cases
Apnea Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with NDUFA13 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Pigmentary retinopathy
  • Dystonia
  • Carcinoma
  • Oral-pharyngeal dysphagia
  • Abnormality of movement
  • Increased CSF lactate
  • Optic atrophy
  • Hyperreflexia

And 155 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NDUFA13 gene

Here you will find a list of rare diseases related to the NDUFA13. 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

THYROID CARCINOMA, HURTHLE CELL


Alternate names

THYROID CARCINOMA, HURTHLE CELL Is also known as hurthle cell thyroid neoplasia

Description

Hurthle cell carcinoma of the thyroid accounts for approximately 3% of all thyroid cancers. Although they are classified as variants of follicular neoplasms, they are more often multifocal and somewhat more aggressive and are less likely to take up iodine than are other follicular neoplasms (Sanders and Silverman, 1998).Hurthle cell tumors, also known as oxyphil cell tumors, are composed of cells with increased numbers of mitochondria, which corresponds morphologically to their voluminous, granular, eosinophilic cytoplasm (Maximo et al., 2005).

Most common symptoms of THYROID CARCINOMA, HURTHLE CELL

  • Carcinoma


More info about THYROID CARCINOMA, HURTHLE CELL

SOURCES: MESH OMIM

DIFFERENTIATED THYROID CARCINOMA


Alternate names

DIFFERENTIATED THYROID CARCINOMA Is also known as well-differentiated thyroid carcinoma, pact, tpc, nonmedullary thyroid carcinoma, papillary, papillary or follicular thyroid carcinoma, papillary carcinoma of thyroid, familial nonmedullary thyroid cancer, papillary, ptc

Description

Differentiated thyroid carcinoma (DTC), also known as papillary or follicular thyroid carcinoma, is a slow-growing malignancy usually presenting in adults as an asymptomatic thyroid mass.

Most common symptoms of DIFFERENTIATED THYROID CARCINOMA

  • Neoplasm
  • Pain
  • Carcinoma
  • Hoarse voice
  • Goiter


More info about DIFFERENTIATED THYROID CARCINOMA

SOURCES: ORPHANET OMIM

LEIGH SYNDROME WITH LEUKODYSTROPHY


Alternate names

LEIGH SYNDROME WITH LEUKODYSTROPHY Is also known as leigh disease with leukodystrophy, infantile subacute necrotizing encephalopathy with leukodystrophy

Most common symptoms of LEIGH SYNDROME WITH LEUKODYSTROPHY

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Failure to thrive


More info about LEIGH SYNDROME WITH LEUKODYSTROPHY

SOURCES: ORPHANET


Potential gene panels for NDUFA13 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

More info about this panel

NDUFA13 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the NDUFA13 gene.

More info about this panel

NDUFA13 Deletion/Duplication Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the NDUFA13 gene.

More info about this panel

NDUFA13 Sequence Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the NDUFA13 gene.

More info about this panel

NDUFA13 Sequence Analysis (Prenatal Diagnosis) Panel

United States.

By Baylor Miraca Genetics Laboratories

This panel specifically test the NDUFA13 gene.

More info about this panel

Comprehensive Mitochondrial Metabolic Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Mitochondrial Metabolic Panel that also includes the following genes: BCS1L SCO1 SCO2 SDHB SDHC SDHD SLC22A5 SLC25A13 SLC25A15 SLC25A3

More info about this panel

Respiratory Chain Deficiency Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Respiratory Chain Deficiency that also includes the following genes: BCS1L SCO1 SCO2 SDHA SDHB SDHC SDHD SURF1 UQCRB LRPPRC

More info about this panel

Leigh syndrome (sequence analysis of NDUFA13 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NDUFA13 gene.

More info about this panel

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

United States.

By PreventionGenetics PreventionGenetics Mitochondrial Complex I Deficiency Sequencing Panel with CNV Detection (Nuclear Genes) that also includes the following genes: NDUFAF5 NDUFA13 NDUFAF1 NUBPL NDUFA11 NDUFAF4 ACAD9 NDUFA12 FOXRED1 NDUFAF2

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

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Thyroid carcinoma Hurthle cell Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NDUFA13 gene.

More info about this panel

Leigh syndrome Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NDUFA13 gene.

More info about this panel

Nuclear-Mito NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Nuclear-Mito NGS Panel that also includes the following genes: RNASEL BCS1L RPL35A MRPL3 RYR1 RYR2 SACS ACSM3 SARDH ATXN7

More info about this panel

NDUFA13 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NDUFA13 gene.

More info about this panel

CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Comprehensive Hereditary Cancer Syndrome: Gene sequencing Panel that also includes the following genes: RNASEL RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2

More info about this panel


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