Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

disorder

SNOMED 783734000CUI C3711385

Overview

Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency 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.

Alpha fetoprotein abnormal

Always present (100%)HP:0006254

Depletion of mitochondrial DNA in liver

Always present (100%)HP:0006581

Hepatic insufficiency

Always present (100%)HP:0001399

Lacticacidosis

Always present (100%)HP:0003128

Postnatal failure to thrive

Always present (100%)HP:0001508

Death of liver cells

HP:0001404

Decreased activity of mitochondrial complex I

HP:0011923

Decreased activity of mitochondrial complex III

HP:0011924

Decreased activity of mitochondrial complex IV

HP:0008347

Decreased size of cranium

HP:0000252

Degeneration of cerebrum

HP:0002059

Disconjugate eye movements

HP:0000549

Elevated serum transaminases

HP:0002910

Encephalopathy

HP:0001298

Enlarged liver

HP:0002240

Epilepsy

HP:0001250

Fatty liver

HP:0001397

Feeding difficulties in infancy

HP:0008872

Generalised nonspecific aminoaciduria

HP:0002909

Growth deficiency

HP:0001510

High blood bilirubin levels

HP:0002904

Hypothermia

HP:0002045

Increased reflexes

HP:0001347

Involuntary, rapid, rhythmic eye movements

HP:0000639

Large spleen

HP:0001744

Low albumin

HP:0003073

Low blood sugar

HP:0001943

Low platelet count

HP:0001873

Micronodular cirrhosis

HP:0001413

Muscular hypotonia

HP:0001252

Related Conditions

Metabolic encephalopathy(parent)

Digestive system hereditary disorder(parent)

Recessive hereditary disorder (autosomal)(parent)

Depletion of mitochondrial DNA(parent)

Disorder of purine metabolism(parent)

Metabolic and genetic disorder affecting the liver(parent)

Inherited metabolic disorder of nervous system(parent)

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

Quick Facts

SNOMED CT: 783734000
UMLS CUI: C3711385
Fully Specified Name: Mitochondrial deoxyribonucleic acid depletion syndrome, hepatocerebral form due to deoxyguanosine kinase 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.