Mitochondrial DNA depletion syndrome 8A encephalomyopathic type with renal tubulopathy

disorder

SNOMED 765100000CUI C2749861

Overview

Mitochondrial DNA depletion syndrome 8A encephalomyopathic type with renal tubulopathy 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.

Lacticacidemia

Always present (100%)HP:0003128

Selective proximal tubular damage

Always present (100%)HP:0000114

Truncal hypotonia

Always present (100%)HP:0008936

Decreased activity of mitochondrial complex IV

Occasional (5-29%)HP:0008347

Diarrhea

Occasional (5-29%)HP:0002014

Epilepsy

Occasional (5-29%)HP:0001250

Increased CSF lactic acid

Occasional (5-29%)HP:0002490

Laboured breathing

Occasional (5-29%)HP:0002098

Prolonged seizure

Occasional (5-29%)HP:0002133

Severe lactic acidosis

Occasional (5-29%)HP:0004900

Vomiting

Occasional (5-29%)HP:0002013

Cachexia

HP:0004326

CPEO

HP:0000544

Feeding difficulties

HP:0011968

Generalised decreased muscle tone

HP:0001290

Inability to coordinate movements when walking

HP:0002066

Increased levels of animo acids in urine

HP:0003355

Muscular hypotonia

HP:0001252

Nonprogressive mental retardation

HP:0001249

Poor weight gain

HP:0001508

Weight loss

HP:0001824

Worsening neurological symptoms

HP:0002344

Related Conditions

Mitochondrial DNA depletion syndrome encephalomyopathic form(parent)

Quick Facts

SNOMED CT: 765100000
UMLS CUI: C2749861
Fully Specified Name: Ribonucleotide reductase regulatory TP53 inducible subunit M2B-related mitochondrial deoxyribonucleic acid depletion syndrome encephalomyopathic form with renal tubulopathy (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 22

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.