Deficiency of melibiase

disorder

SNOMED 124464003CUI C5980243

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Treatments & Interventions

Agalsidase beta

substance

Migalastat

substance

Migalastat hydrochloride

substance

Pegunigalsidase alfa

substance

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal glycosphingolipid metabolism

Very frequent (80-99%)HP:0004343

Angiokeratomas

Very frequent (80-99%)HP:0001014

Arthralgias

Very frequent (80-99%)HP:0002829

Arthritis

Very frequent (80-99%)HP:0001369

Blood in urine

Very frequent (80-99%)HP:0000790

Chronic heart failure

Very frequent (80-99%)HP:0001635

Corneal dystrophy

Very frequent (80-99%)HP:0001131

Decreased haemoglobin

Very frequent (80-99%)HP:0001903

Decreased sweating

Very frequent (80-99%)HP:0000966

Elevated circulating ceramidetrihexoside concentration

Very frequent (80-99%)HP:0033595

Epidermal hyperkeratosis

Very frequent (80-99%)HP:0000962

Gastro pain

Very frequent (80-99%)HP:0002027

Hypoacusis

Very frequent (80-99%)HP:0000365

Intestinal malabsorption

Very frequent (80-99%)HP:0002024

Mucosal telangiectasiae

Very frequent (80-99%)HP:0100579

Multiple, subcutaneous nodules

Very frequent (80-99%)HP:0001482

Muscle pain

Very frequent (80-99%)HP:0003326

Nephrosis

Very frequent (80-99%)HP:0000100

Renal failure in adulthood

Very frequent (80-99%)HP:0000083

Scarring or clouding of the cornea of the eye

Very frequent (80-99%)HP:0007957

Small dilated blood vessels near membrane covering front of eye and eyelids

Very frequent (80-99%)HP:0000524

Teleangiectasia of the skin

Very frequent (80-99%)HP:0100585

Tiredness

Very frequent (80-99%)HP:0012378

Transient ischemic attacks

Very frequent (80-99%)HP:0002326

Abnormal aortic valve morphology

Frequent (30-79%)HP:0001646

Abnormal circulating lipid concentration

Frequent (30-79%)HP:0003119

Acroparesthesia

Frequent (30-79%)HP:0031006

Anorexia

Frequent (30-79%)HP:0002039

Behavioral symptoms

Frequent (30-79%)HP:0000708

Bundle branch block

Frequent (30-79%)HP:0011710

Related Conditions

Specific enzyme deficiency(parent)

Quick Facts

SNOMED CT: 124464003
UMLS CUI: C5980243
Fully Specified Name: Deficiency of alpha-galactosidase (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30
Known Treatments: 4

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.