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GTR Home > Conditions/Phenotypes > Amyloidosis, hereditary systemic 1

Amyloidosis, hereditary systemic 1

Synonyms
AMYLOID CARDIOMYOPATHY; Amyloid Cardiomyopathy, Transthyretin-related; Amyloid polyneuropathy transthyretin related; Amyloidosis Transthyretin related; Familial Amyloid Polyneuropathy Type 1(Portuguese-Swedish-Japanese type); Familial Amyloid Polyneuropathy Type II (Indiana/Swiss or Maryland/German type); Familial Transthyretin Amyloidosis; Familial amyloid polyneuropathy; Hereditary oculoleptomeningeal amyloid angiopathy; Isolated Cardiac Amyloidosis; Transthyretin amyloidosis
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Hereditary Transthyretin Amyloidosis
Hereditary transthyretin amyloidosis (ATTRv amyloidosis) is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy. Amyloidosis can involve the heart, central nervous system (CNS), eyes, and kidneys. The disease usually begins in the third to fifth decade in persons from endemic foci in Portugal and Japan; onset is later in persons from other areas. Typically, sensory neuropathy starts in the lower extremities with paresthesia and hypesthesia of the feet, followed within a few years by motor neuropathy. In some persons, particularly those with early-onset disease, autonomic neuropathy is the first manifestation of the condition; findings can include orthostatic hypotension, constipation alternating with diarrhea, attacks of nausea and vomiting, delayed gastric emptying, sexual impotence, anhidrosis, and urinary retention or incontinence. Cardiac amyloidosis is mainly characterized by progressive restrictive cardiomyopathy. Individuals with leptomeningeal amyloidosis may have the following CNS findings: dementia, psychosis, visual impairment, headache, seizures, motor paresis, ataxia, myelopathy, hydrocephalus, or intracranial hemorrhage. Ocular involvement includes vitreous opacity, glaucoma, dry eye, and ocular amyloid angiopathy. Mild-to-severe kidney disease can develop.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Yoshiki Sekijima
Katsuya Nakamura
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Available tests

108 tests are in the database for this condition.

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Clinical tests (108 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ATTR, CTS, CTS1, HEL111, HsT2651, PALB, TBPA, TTN, TTR
    Summary: transthyretin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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