Overview
Deficiency of glycerone-transferase 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.
Abnormal circulating glutamine concentration
Very frequent (80-99%)HP:0010903
Cirrhosis
Very frequent (80-99%)HP:0001394
Hepatosplenomegaly
Very frequent (80-99%)HP:0001433
Increased serum bile acid concentration
Very frequent (80-99%)HP:0012202
Thrombocytopenia
Very frequent (80-99%)HP:0001873
Abnormality of the clitoris
Frequent (30-79%)HP:0000056
Funny looking face
Frequent (30-79%)HP:0001999
Hydrops fetalis
Frequent (30-79%)HP:0001789
Premature skin wrinkling
Frequent (30-79%)HP:0100678
Renal anomalies
Frequent (30-79%)HP:0000077
Soft tissue swelling
Frequent (30-79%)HP:0000969
Telangiectasia
Frequent (30-79%)HP:0001009
Aortic coarctation
Occasional (5-29%)HP:0001680
Biventricular hypertrophy
Occasional (5-29%)HP:0200128
Impaired pulmonary function
Occasional (5-29%)HP:0002795
Mental and motor retardation
Occasional (5-29%)HP:0001263
Atria septal defect
HP:0001631
Concave bridge of nose
HP:0005280
Decreased height of philtrum
HP:0000322
Decreased volume of lip vermillion
HP:0000233
Enlarged liver
HP:0002240
Intrauterine growth retardation, IUGR
HP:0001511
Inverted triangular face
HP:0000325
Large mouth
HP:0000154
Large spleen
HP:0001744
Liver dysfunction
HP:0001410
Liver fibrosis
HP:0001395
Low birth weight
HP:0001518
Low number of red blood cells or hemoglobin
HP:0001903
Low-set ears
HP:0000369
Related Conditions
Quick Facts
- SNOMED CT
- 124252008
- UMLS CUI
- C1291329
- Fully Specified Name
- Deficiency of transaldolase (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.