NADK2 gene related symptoms and diseases

All the information presented here about the NADK2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to NADK2 gene

Symptoms // Phenotype % Cases
Seizures Very Common - Between 80% and 100% cases
Choreoathetosis Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Aspiration pneumonia Very Common - Between 80% and 100% cases
Renal tubular acidosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with NADK2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Pancreatitis
  • Leukodystrophy
  • Cerebral visual impairment
  • Hyperlysinemia
  • Neonatal hypotonia
  • Dystonia
  • Ventriculomegaly
  • Failure to thrive

And 34 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NADK2 gene

Here you will find a list of rare diseases related to the NADK2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PROGRESSIVE ENCEPHALOPATHY WITH LEUKODYSTROPHY DUE TO DECR DEFICIENCY


Alternate names

PROGRESSIVE ENCEPHALOPATHY WITH LEUKODYSTROPHY DUE TO DECR DEFICIENCY Is also known as 2,4-dienoyl-coa reductase deficiency, decr deficiency with hyperlysinemia

Description

Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop.

Most common symptoms of PROGRESSIVE ENCEPHALOPATHY WITH LEUKODYSTROPHY DUE TO DECR DEFICIENCY

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Failure to thrive


More info about PROGRESSIVE ENCEPHALOPATHY WITH LEUKODYSTROPHY DUE TO DECR DEFICIENCY

SOURCES: ORPHANET

2,4-DIENOYL-COA REDUCTASE DEFICIENCY; DECRD


Description

DECR deficiency is a rare autosomal recessive inborn error of metabolism resulting in mitochondrial dysfunction. Affected individuals have a severe encephalopathy with neurologic and metabolic dysfunction beginning in early infancy. Laboratory studies show decreased activity of the mitochondrial NADP(H)-dependent enzymes DECR1 (OMIM ) and AASS (OMIM ), resulting in increased C10:2-carnitine levels and hyperlysinemia (summary by Houten et al., 2014).

Most common symptoms of 2,4-DIENOYL-COA REDUCTASE DEFICIENCY; DECRD

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Nystagmus


More info about 2,4-DIENOYL-COA REDUCTASE DEFICIENCY; DECRD

SOURCES: OMIM ORPHANET


Potential gene panels for NADK2 gene

Leukodystrophy / Leukencephalopathy and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Leukodystrophy / Leukencephalopathy and differential diagnoses Panel that also includes the following genes: BCS1L SCO2 SCP2 AIMP1 SDHA SLC16A2 SLC17A5 SLC25A1 SLC25A12 SOX10

More info about this panel

Invitae Fatty Acid Oxidation Defects Panel Panel

United States.

By Invitae Invitae Fatty Acid Oxidation Defects Panel that also includes the following genes: SLC22A5 SLC25A20 CPT1A CPT2 NADK2 ETFA ETFB ETFDH HADH HADHA

More info about this panel


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