MMDS1 - multiple mitochondrial dysfunctions syndrome type 1

disorder

SNOMED 1208485009CUI C3276432

Overview

MMDS1 - multiple mitochondrial dysfunctions syndrome 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.

Alpha-aminoadipic aciduria

Always present (100%)HP:0410309

Arc de cercle

Always present (100%)HP:0002179

Decreased activities of mitochondrial-encoded respiratory chain complexes

Always present (100%)HP:0008972

Dullness

Always present (100%)HP:0001254

Elevated circulating 2-hydroxybutyric acid concentration

Always present (100%)HP:0033418

Episodic metabolic acidosis

Always present (100%)HP:0004911

Extrapyramidal dysfunction

Always present (100%)HP:0002071

Facial paresis

Always present (100%)HP:0007209

Feeding difficulties

Always present (100%)HP:0011968

Focal seizures

Always present (100%)HP:0007359

High glycine levels in cerebrospinal fluid

Always present (100%)HP:0500230

High urine glycine levels

Always present (100%)HP:0003108

Higher than normal levels of lactate in blood

Always present (100%)HP:0002151

Increased CSF lactic acid

Always present (100%)HP:0002490

Increased urine alpha-ketoglutarate concentration

Always present (100%)HP:0012402

Increased urine lactate

Always present (100%)HP:0003648

Involuntary jerking movements

Always present (100%)HP:0001336

Lacticacidosis

Always present (100%)HP:0003128

Leukoencephalopathy

Always present (100%)HP:0002352

Regression of motor skills

Always present (100%)HP:0033044

Respiratory complex II deficiency

Always present (100%)HP:0008314

Respiratory failure

Always present (100%)HP:0002878

Respiratory function loss

Always present (100%)HP:0002093

Spastic tetraparesis

Always present (100%)HP:0001285

Truncal hypotonia

Always present (100%)HP:0008936

Hyperglycinemia

Very frequent (80-99%)HP:0002154

Poor weight gain

Very frequent (80-99%)HP:0001508

Mental and motor retardation

Frequent (30-79%)HP:0001263

Muscle weakness

Frequent (30-79%)HP:0001324

Psychomotor regression

Frequent (30-79%)HP:0002376

Related Conditions

Multiple mitochondrial dysfunctions syndrome(parent)

Quick Facts

SNOMED CT: 1208485009
UMLS CUI: C3276432
Fully Specified Name: Multiple mitochondrial dysfunctions syndrome 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.