← Back to Conditions

Glycogenosis with glucoaminophosphaturia

disorder
SNOMED 61598006CUI C1857395

Overview

Glycogenosis with glucoaminophosphaturia 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.

Impaired galactose metabolism
Always present (100%)HP:0004915
Abnormal hepatic glycogen storage
Very frequent (80-99%)HP:0500030
Abnormal urine pH
Very frequent (80-99%)HP:0032943
Galactose intolerance
Very frequent (80-99%)HP:0004919
Generalised nonspecific aminoaciduria
Very frequent (80-99%)HP:0002909
Glucose tolerance decreased
Very frequent (80-99%)HP:0040270
High urine uric acid level
Very frequent (80-99%)HP:0003149
Hyperchloremic metabolic acidosis
Very frequent (80-99%)HP:0004918
Hyperphosphaturia
Very frequent (80-99%)HP:0003109
Increased hepatic glycogen content
Very frequent (80-99%)HP:0006568
Increased urine bicarbonate concentration
Very frequent (80-99%)HP:0003646
Low-molecular-weight proteinuria
Very frequent (80-99%)HP:0003126
Poor weight gain
Very frequent (80-99%)HP:0001508
Proximal tubular acidosis
Very frequent (80-99%)HP:0002049
Renal bicarbonate wasting
Very frequent (80-99%)HP:0004910
Renal tubular acidosis
Very frequent (80-99%)HP:0001947
Tubular phosphate reabsorption low
Very frequent (80-99%)HP:0000117
Belly bloating
Frequent (30-79%)HP:0003270
Beta 2-microglobulinuria
Frequent (30-79%)HP:0025466
Bone pain
Frequent (30-79%)HP:0002653
Decreased plasma carnitine
Frequent (30-79%)HP:0003234
Elevated gamma-glutamyltransferase level
Frequent (30-79%)HP:0030948
Enlarged liver
Frequent (30-79%)HP:0002240
Galactosemia
Frequent (30-79%)HP:0012024
Glucose in urine
Frequent (30-79%)HP:0003076
Growth delay as children
Frequent (30-79%)HP:0008897
High blood bilirubin levels
Frequent (30-79%)HP:0002904
Hypercalciuria
Frequent (30-79%)HP:0002150
Hypophosphataemia
Frequent (30-79%)HP:0002148
Hypophosphatemic rickets
Frequent (30-79%)HP:0004912

Related Conditions

Congenital anomaly of liver(parent)
Glycogen storage disease(parent)
Digestive system hereditary disorder(parent)
Hereditary nephropathy(parent)
Developmental hereditary disorder(parent)
Metabolic renal disease(parent)

Quick Facts

SNOMED CT
61598006
UMLS CUI
C1857395
Fully Specified Name
Glycogenosis with glucoaminophosphaturia (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.