Hepatoencephalopathy due to COXPD1 (combined oxidative phosphorylation defect type 1)

disorder

SNOMED 764962002CUI C1836797

Overview

Hepatoencephalopathy due to COXPD1 (combined oxidative phosphorylation defect type 1) is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

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

Decreased activity of mitochondrial complex I

Always present (100%)HP:0011923

Decreased activity of mitochondrial complex IV

Always present (100%)HP:0008347

Elevated lactate:pyruvate ratio

Always present (100%)HP:0032653

Fulminant hepatic failure

Always present (100%)HP:0004448

Hypoplasia of corpus callosum

Always present (100%)HP:0002079

Metabolic acidosis

Always present (100%)HP:0001942

Respiratory complex deficiency, ATPase deficiency

Always present (100%)HP:0011925

Respiratory complex III deficiency

Always present (100%)HP:0011924

Slowed or blocked flow of bile from liver

Always present (100%)HP:0001396

Spasticity and rigidity of muscles

Always present (100%)HP:0001276

Cystic lesions in the basal ganglia

Frequent (30-79%)HP:0006799

Decreased activity of mitochondrial respiratory complexes

Frequent (30-79%)HP:0008972

Decreased muscle movement

Frequent (30-79%)HP:0002375

Electroencephalogram abnormal

Frequent (30-79%)HP:0002353

Encephalopathy

Frequent (30-79%)HP:0001298

Feeding difficulties in infancy

Frequent (30-79%)HP:0008872

Generalised brain degeneration

Frequent (30-79%)HP:0002283

Hepatic insufficiency

Frequent (30-79%)HP:0001399

Lacticacidosis

Frequent (30-79%)HP:0003128

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Truncal hypotonia

Frequent (30-79%)HP:0008936

Decreased size of cranium

Occasional (5-29%)HP:0000252

Dilated cerebral ventricle

Occasional (5-29%)HP:0002119

Dystonic movements

Occasional (5-29%)HP:0001332

Hypospadias

Occasional (5-29%)HP:0000047

Involuntary muscle stiffness, contraction, or spasm

Occasional (5-29%)HP:0001257

Low albumin

Occasional (5-29%)HP:0003073

Low blood sugar

Occasional (5-29%)HP:0001943

Premature birth

Occasional (5-29%)HP:0001622

Small for gestational age infant

Occasional (5-29%)HP:0001511

Related Conditions

Hepatic encephalopathy(parent)

Congenital disease(parent)

Recessive hereditary disorder (autosomal)(parent)

Metabolic and genetic disorder affecting the liver(parent)

Digestive system hereditary disorder(parent)

Hereditary disorder of nervous system(parent)

Disorder of digestive system specific to fetus OR newborn(parent)

Quick Facts

SNOMED CT: 764962002
UMLS CUI: C1836797
Fully Specified Name: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 (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.