Traits

Traits linked to NADK2

NAD kinase 2, mitochondrial

The Human Phenotype Ontology links 58 traits to NADK2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Ataxia	Always
Choreoathetosis	Always
Clonus	Always
Colpocephaly	Always
Degeneration of cerebellum	Always
Degeneration of cerebrum	Always
Delayed CNS myelination	Always
Dystonia	Always
Encephalopathy	Always
Epilepsy	Always
Generalized hyperreflexia	Always
Global developmental delay	Always
Incoordination	Always
Leukodystrophy	Always
Myoclonic absence seizure	Always
Paralysis of all four limbs	Always
Too much cerebrospinal fluid in the brain	Always
Underdevelopment of part of brain called corpus callosum	Always
Ventriculomegaly	Always
Abnormal basal ganglia MRI signal intensity	Often (30–79%)
Central sleep apnea	Often (30–79%)
Nonprogressive cerebellar ataxia	Often (30–79%)
Progressive brain disease	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Elevated blood lysine	Always
High urine lysine levels	Always
Higher than normal levels of lactate in blood	Always
Increased CSF lactate	Always
Increased CSF lysine concentration	Always
Metabolic acidosis	Always
Reduced liver 2,4-dienoyl-CoA reductase activity	Always
Reduced muscle 2,4-dienoyl-CoA reductase activity	Always
Abnormal circulating carnitine concentration	Often (30–79%)
Accumulation of acid in body due to kidney problem	Often (30–79%)
Decreased activity of NADPH oxidase	Often (30–79%)
Organic aciduria	Often (30–79%)
Stress/infection-induced lactic acidosis	Often (30–79%)
Elevated circulating 2-trans,4-cis-decadienoylcarnitine concentration	Not recorded

Abnormality of the eye

Trait	How often it is seen
Cerebral visual impairment	Always
Eye muscle paralysis	Always
Farsightedness	Always
Involuntary, rapid, rhythmic eye movements	Always
Optic atrophy	Always
Abnormal involuntary eye movements	Often (30–79%)
Abnormality of eye movement	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Involuntary muscle stiffness, contraction, or spasm	Always
Low muscle tone	Always
Poor head control	Always
Low muscle tone, in neonatal onset	Often (30–79%)
Progressive spastic quadriplegia	Often (30–79%)

Abnormality of the digestive system

Trait	How often it is seen
Feeding difficulties	Always
Poor suck	Always
Pancreatic inflammation	Often (30–79%)

Abnormal cellular phenotype

Trait	How often it is seen
Decreased plasma free carnitine	Always
Carnitine deficiency	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Prenatal growth deficiency	Always

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Always

Abnormality of the immune system

Trait	How often it is seen
Aspiration pneumonia	Often (30–79%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to NADK2 and how often each is seen. Find out more at hpo.jax.org.

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