Deficiency of heptulokinase

disorder

SNOMED 124309005CUI C1291373

Overview

Deficiency of heptulokinase 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.

Arthrogryposis multiplex

Always present (100%)HP:0002804

Flexion contractures

Always present (100%)HP:0001371

Increased urinary sedoheptulose

Always present (100%)HP:0025157

Neonatal asphyxia

Always present (100%)HP:0012768

Abnormal CNS myelination

Frequent (30-79%)HP:0011400

Abnormal formation of the hip

Frequent (30-79%)HP:0001385

Abnormality of eyeball position

Frequent (30-79%)HP:0100886

Cholestatic liver disease

Frequent (30-79%)HP:0002611

Decreased body height

Frequent (30-79%)HP:0004322

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Fat in feces

Frequent (30-79%)HP:0002570

Feet or buttocks of fetus positioned near opening of uterus

Frequent (30-79%)HP:0001623

Gap between large left and right abdominal muscles

Frequent (30-79%)HP:0001540

Hepatitis

Frequent (30-79%)HP:0012115

High forehead

Frequent (30-79%)HP:0000348

Hypochromic, microcytic anaemia

Frequent (30-79%)HP:0004840

Increased size of skull

Frequent (30-79%)HP:0000256

Inguinal hernia

Frequent (30-79%)HP:0000023

Large bregma sutures

Frequent (30-79%)HP:0000239

Low number of red blood cells or hemoglobin

Frequent (30-79%)HP:0001903

Marked growth retardation

Frequent (30-79%)HP:0008850

Morphologic abnormality of the renal tubules

Frequent (30-79%)HP:0000091

Ocular hypotelorism

Frequent (30-79%)HP:0000601

Portal hypertension

Frequent (30-79%)HP:0001409

Postprandial hyperglycemia

Frequent (30-79%)HP:0011998

Renal failure

Frequent (30-79%)HP:0000083

Shallow eye sockets

Frequent (30-79%)HP:0000586

Slowed or blocked flow of bile from liver

Frequent (30-79%)HP:0001396

Subcortical cerebral atrophy

Frequent (30-79%)HP:0012157

Related Conditions

Deficiency of transferase(parent)

Quick Facts

SNOMED CT: 124309005
UMLS CUI: C1291373
Fully Specified Name: Deficiency of sedoheptulokinase (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.