Molybdenum cofactor deficiency complementation group A

disorder

SNOMED 1003367004CUI C1854988

Overview

Molybdenum cofactor deficiency complementation group A is a disorder.

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

Treatments & Interventions

Fosdenopterin

substance

Fosdenopterin hydrobromide

substance

Signs & Symptoms

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

Abnormal muscle tone

HP:0003808

Absent urinary urothione

HP:0003606

Aldehyde oxidase deficiency

HP:0002932

Arc de cercle

HP:0002179

Axonal loss

HP:0003447

Big cheeks

HP:0000293

Decreased size of cranium

HP:0000252

Decreased urinary sulfate

HP:0003359

Decreased urinary urate

HP:0011935

Degeneration of cerebrum

HP:0002059

Dilated cerebral ventricle

HP:0002119

Elevated urinary S-sulfocysteine level

HP:0034744

Epilepsy

HP:0001250

Excess astrocytes in brain

HP:0002171

Feeding difficulties in infancy

HP:0008872

Frontal protuberance

HP:0002007

Hypoplasia of corpus callosum

HP:0002079

Increased distance between eyes

HP:0000316

Increased length of philtrum

HP:0000343

Increased size of skull

HP:0000256

Increased urinary hypoxanthine level

HP:0011814

Increased urinary sulfite level

HP:0011942

Increased urinary taurine

HP:0003166

Increased urinary thiosulfate

HP:0011943

Involuntary, rapid, rhythmic eye movements

HP:0000639

Lens dislocation

HP:0001083

Lens luxation

HP:0012019

Low blood uric acid levels

HP:0003537

Low intelligence

HP:0001249

Molybdenum cofactor deficiency

HP:0003570

Related Conditions

Combined molybdoflavoprotein enzyme deficiency(parent)

Quick Facts

SNOMED CT: 1003367004
UMLS CUI: C1854988
Fully Specified Name: Molybdenum cofactor deficiency complementation group A (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30
Known Treatments: 2

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.