Deficiency of UTP-hexose-1-phosphate uridylyltransferase

disorder

SNOMED 398664009CUI C0268151

Overview

Deficiency of UTP-hexose-1-phosphate uridylyltransferase 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.

Generalised decreased muscle tone

Always present (100%)HP:0001290

Generalized tonic-clonic seizure (without specification of onset)

Always present (100%)HP:0002069

Increased level of galactitol in plasma

Always present (100%)HP:0410061

Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity

Always present (100%)HP:4000208

Abnormal circulating enzyme concentration or activity

Very frequent (80-99%)HP:0012379

Abnormal erythrocyte enzyme concentration or activity

Very frequent (80-99%)HP:0030272

Brain and/or spinal cord issue

Very frequent (80-99%)HP:0000707

Male infertility

Very frequent (80-99%)HP:0003251

Alanine aminotransferase increased

Frequent (30-79%)HP:0031964

Ataxic tremor

Frequent (30-79%)HP:0002345

Blood coagulation disorder

Frequent (30-79%)HP:0001928

Cataract

Frequent (30-79%)HP:0000518

Cognitive delay

Frequent (30-79%)HP:0001263

Decreased fertility in females

Frequent (30-79%)HP:0000868

Decreased serum insulin-like growth factor 1

Frequent (30-79%)HP:0030353

Deficit in grammar

Frequent (30-79%)HP:0006977

Delayed puberty

Frequent (30-79%)HP:0000823

Elevated serum aspartate aminotransferase

Frequent (30-79%)HP:0031956

Enlarged liver

Frequent (30-79%)HP:0002240

Food intolerance

Frequent (30-79%)HP:0012537

Hepatic insufficiency

Frequent (30-79%)HP:0001399

Hypergalactosemia

Frequent (30-79%)HP:0012024

Intellectual deterioration

Frequent (30-79%)HP:0001268

Light or infrequent menstrual periods

Frequent (30-79%)HP:0000876

Mental retardation, mild

Frequent (30-79%)HP:0001256

Postural tremor

Frequent (30-79%)HP:0002174

Premature menopause

Frequent (30-79%)HP:0008209

Previous menstrual periods stop

Frequent (30-79%)HP:0000869

Primary amenorrhea

Frequent (30-79%)HP:0000786

Specific learning disability

Frequent (30-79%)HP:0001328

Related Conditions

Classical galactosemia, homozygous Duarte-type(child)

Classical galactosemia, heterozygous type(child)

Classical galactosemia, homozygous Negro-type(child)

Deficiency of transferase(parent)

Quick Facts

SNOMED CT: 398664009
UMLS CUI: C0268151
Fully Specified Name: Deficiency of uridine triphosphate-hexose-1-phosphate uridylyltransferase (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.