Apolipoprotein A-I binding protein deficiency

disorder

SNOMED 1251447008CUI C4310675

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.

Elevated brain choline level by MRS

Always present (100%)HP:0012706

Encephalopathy

Always present (100%)HP:0001298

Increased blood lactate

Always present (100%)HP:0002151

Increased CSF lactic acid

Always present (100%)HP:0002490

Myelopathy

Always present (100%)HP:0002196

Persistent vegetative state

Always present (100%)HP:0001259

Respiratory failure

Always present (100%)HP:0002878

Ataxia

Frequent (30-79%)HP:0001251

Bradypnea

Frequent (30-79%)HP:0046507

Central hypotonia

Frequent (30-79%)HP:0001252

Cerebral oedema

Frequent (30-79%)HP:0002181

Cervical spondylotic myelopathy

Frequent (30-79%)HP:0002318

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Loss of acquired milestones

Frequent (30-79%)HP:0002376

Oedema of the cerebellum

Frequent (30-79%)HP:0030915

Quadriparesis

Frequent (30-79%)HP:0002273

Abducens nerve paralysis

Occasional (5-29%)HP:0006897

Cerebral white matter atrophy

Occasional (5-29%)HP:0012762

Difficulty articulating speech

Occasional (5-29%)HP:0001260

Epilepsy

Occasional (5-29%)HP:0001250

Generalised brain degeneration

Occasional (5-29%)HP:0002283

Irritability

Occasional (5-29%)HP:0000737

Muscle rigidity

Occasional (5-29%)HP:0002063

Myoclonic seizure

Occasional (5-29%)HP:0032794

Restlessness

Occasional (5-29%)HP:0000711

Squint

Occasional (5-29%)HP:0000486

Tiredness

Occasional (5-29%)HP:0012378

Torticollis

Occasional (5-29%)HP:0000473

Tremor

Occasional (5-29%)HP:0001337

Related Conditions

Hereditary degenerative disease of central nervous system(parent)

Inherited metabolic disorder of nervous system(parent)

Encephalomyelopathy(parent)

Recessive hereditary disorder (autosomal)(parent)

Degenerative brain disorder(parent)

Quick Facts

SNOMED CT: 1251447008
UMLS CUI: C4310675
Fully Specified Name: NAD(P)HX epimerase 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.