NAD(P)HX dehydratase deficiency

disorder

SNOMED 1251446004CUI C5193026

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Encephalopathy

Always present (100%)HP:0001298

Skin rash

Always present (100%)HP:0000988

Dullness

Frequent (30-79%)HP:0001254

Eye muscle paralysis

Frequent (30-79%)HP:0000602

Mental and motor retardation

Frequent (30-79%)HP:0001263

Mental deterioration in childhood

Frequent (30-79%)HP:0002376

Pancytopenia

Frequent (30-79%)HP:0001876

Supratentorial atrophy

Frequent (30-79%)HP:0002059

Vomiting

Frequent (30-79%)HP:0002013

Ataxia

Occasional (5-29%)HP:0001251

Behavioral changes

Occasional (5-29%)HP:0000708

Bilateral nerve deafness

Occasional (5-29%)HP:0008619

Choreiform movements

Occasional (5-29%)HP:0002072

Diarrhea

Occasional (5-29%)HP:0002014

Dilated cerebral ventricle

Occasional (5-29%)HP:0002119

Drooling

Occasional (5-29%)HP:0002307

Dystonic disease

Occasional (5-29%)HP:0001332

Elevated heart rate

Occasional (5-29%)HP:0001649

Episodic vomiting

Occasional (5-29%)HP:0002572

Erythema

Occasional (5-29%)HP:0010783

Generalised dystonia

Occasional (5-29%)HP:0007325

Hypsarrhythmia by EEG

Occasional (5-29%)HP:0002521

Inability to coordinate movements when walking

Occasional (5-29%)HP:0002066

Increased blood lactate

Occasional (5-29%)HP:0002151

Infantile spasms

Occasional (5-29%)HP:0012469

Intermittent fever

Occasional (5-29%)HP:0001954

Involuntary jerking movements

Occasional (5-29%)HP:0001336

Irritable mood

Occasional (5-29%)HP:0000737

Left ventricular wall hypertrophy

Occasional (5-29%)HP:0001712

Lens opacities

Occasional (5-29%)HP:0000518

Related Conditions

Hereditary degenerative disease of central nervous system(parent)

Inherited metabolic disorder of nervous system(parent)

Cerebral atrophy(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1251446004
UMLS CUI: C5193026
Fully Specified Name: NAD(P)HX dehydratase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.