Atypical Gaucher disease due to saposin C deficiency

disorder

SNOMED 1156792000CUI C1864651

Overview

Atypical Gaucher disease due to saposin C deficiency 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.

Abducens nerve paralysis

Always present (100%)HP:0006897

Bone pain

Always present (100%)HP:0002653

Chronic extreme exhaustion

Always present (100%)HP:0012432

Clonic seizure

Always present (100%)HP:0020221

Elevated serum acid phosphatase

Always present (100%)HP:0003148

Enlarged liver

Always present (100%)HP:0002240

Eye drop

Always present (100%)HP:0000508

Horizontal nystagmus

Always present (100%)HP:0000666

Large spleen

Always present (100%)HP:0001744

Neurodevelopmental regression

Always present (100%)HP:0002376

Prolonged seizure

Always present (100%)HP:0002133

Secondary generalized tonic clonic seizures

Always present (100%)HP:0007334

Supranuclear gaze paralysis

Always present (100%)HP:0000605

Terminal tremor

Always present (100%)HP:0002080

Hepatosplenomegaly

Very frequent (80-99%)HP:0001433

Decreased circulating cholesterol level

Frequent (30-79%)HP:0003146

Elevated circulating chitotriosidase activity

Frequent (30-79%)HP:6000611

Elevated circulating glucosylsphingosine concentration

Frequent (30-79%)HP:6001185

Erlenmeyer flask femora

Frequent (30-79%)HP:0004975

Hypersplenism

Frequent (30-79%)HP:0001971

Thrombocytopenia

Frequent (30-79%)HP:0001873

Ataxia

Occasional (5-29%)HP:0001251

Central hypotonia

Occasional (5-29%)HP:0001252

Decreased size of cranium

Occasional (5-29%)HP:0000252

Electroencephalogram abnormal

Occasional (5-29%)HP:0002353

Eye muscle paralysis

Occasional (5-29%)HP:0000602

Hunched back

Occasional (5-29%)HP:0002808

Hypoacusis

Occasional (5-29%)HP:0000365

Interictal vestibular dysfunction

Occasional (5-29%)HP:0001751

Jerking

Occasional (5-29%)HP:0001336

Related Conditions

Gaucher's disease(parent)

Quick Facts

SNOMED CT: 1156792000
UMLS CUI: C1864651
Fully Specified Name: Atypical Gaucher disease due to saposin C deficiency (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.