Familial transthyretin-related amyloidosis

disorder

SNOMED 1354544003CUI C2751492

Overview

Familial transthyretin-related amyloidosis is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Treatments & Interventions

Patisiran

substance

Patisiran sodium

substance

Vutrisiran

substance

Vutrisiran sodium

substance

Eplontersen

substance

Eplontersen sodium

substance

Signs & Symptoms

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

Amyloidosis

Always present (100%)HP:0011034

Elevated csf protein

Always present (100%)HP:0002922

Ataxia

Frequent (30-79%)HP:0001251

Autonomic dysregulation

Frequent (30-79%)HP:0012332

Cardiac arrhythmias

Frequent (30-79%)HP:0011675

Confusion

Frequent (30-79%)HP:0001289

Constrictive median neuropathy

Frequent (30-79%)HP:0012185

Corticospinal signs

Frequent (30-79%)HP:0007256

Delayed gastric emptying

Frequent (30-79%)HP:0002578

Diarrhea

Frequent (30-79%)HP:0002014

Difficulty getting an erection

Frequent (30-79%)HP:0000802

Dyschezia

Frequent (30-79%)HP:0002019

Frequent vomiting

Frequent (30-79%)HP:0002572

Glaucoma

Frequent (30-79%)HP:0000501

Heart block

Frequent (30-79%)HP:0012722

Heart failure

Frequent (30-79%)HP:0001635

Increased reflexes

Frequent (30-79%)HP:0001347

Kidney disease

Frequent (30-79%)HP:0000112

Left ventricular wall hypertrophy

Frequent (30-79%)HP:0001712

Muscle atrophy, neurogenic

Frequent (30-79%)HP:0003202

Myodeopsia

Frequent (30-79%)HP:0100832

Nausea and vomiting

Frequent (30-79%)HP:0002017

Nerve damage causing decreased feeling and movement

Frequent (30-79%)HP:0007141

Orthostatic hypotension due to autonomic dysfunction

Frequent (30-79%)HP:0004926

Restrictive cardiomyopathy

Frequent (30-79%)HP:0001723

Sensorineural deafness

Frequent (30-79%)HP:0000407

Sweating dysfunction

Frequent (30-79%)HP:0000970

Transthyretin cardiac amyloidosis

Frequent (30-79%)HP:0031327

Urinary retention

Frequent (30-79%)HP:0000016

Xerophthalmia

Frequent (30-79%)HP:0001097

Related Conditions

Transthyretin related familial amyloid cardiomyopathy(child)

Autosomal dominant hereditary disorder(parent)

Hereditary amyloidosis(parent)

Systemic amyloidosis(parent)

Quick Facts

SNOMED CT: 1354544003
UMLS CUI: C2751492
Fully Specified Name: Hereditary transthyretin related amyloidosis (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30
Known Treatments: 6

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.