COXPD10 - combined oxidative phosphorylation defect type 10

disorder

SNOMED 771478008CUI C4749921

Overview

COXPD10 - combined oxidative phosphorylation defect type 10 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.

Bradycardia

Always present (100%)HP:0001662

Increased blood lactate

Always present (100%)HP:0002151

Lacticacidosis

Always present (100%)HP:0003128

Metabolic acidosis

Always present (100%)HP:0001942

Cardiomyopathy, hypertrophic

Frequent (30-79%)HP:0001639

Decreased activity of mitochondrial complex III

Frequent (30-79%)HP:0011924

Decreased amniotic fluid index

Frequent (30-79%)HP:0001562

Feeding difficulties

Frequent (30-79%)HP:0011968

Fluid around lungs

Frequent (30-79%)HP:0002202

High blood ammonia levels

Frequent (30-79%)HP:0001987

Increased heart size

Frequent (30-79%)HP:0001640

Intrauterine growth retardation, IUGR

Frequent (30-79%)HP:0001511

Low blood sugar

Frequent (30-79%)HP:0001943

Optic atrophy

Frequent (30-79%)HP:0000648

Pericardial effusions

Frequent (30-79%)HP:0001698

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Peritoneal effusion

Frequent (30-79%)HP:0001541

Dystonic disease

Occasional (5-29%)HP:0001332

Increased serum alanine

Occasional (5-29%)HP:0003348

Involuntary muscle stiffness, contraction, or spasm

Occasional (5-29%)HP:0001257

Seizures

Occasional (5-29%)HP:0001250

Cognitive delay

HP:0001263

Low birth weight

HP:0001518

Problems speaking

HP:0002465

Undergrowth

HP:0001508

Related Conditions

Hypertrophic mitochondrial cardiomyopathy(parent)

Congenital cardiovascular disorder(parent)

Recessive hereditary disorder (autosomal)(parent)

Mitochondrial cytopathy(parent)

Cardiovascular system hereditary disorder(parent)

Deficiency in enzyme complexes of mitochondrial respiratory chain(parent)

Quick Facts

SNOMED CT: 771478008
UMLS CUI: C4749921
Fully Specified Name: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to mitochondrial transfer ribonucleic acid translation optimization 1 deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 25

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.