ATTRV30M amyloidosis

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ATTRV30M amyloidosis

Synonyms: ATTRV30M-related amyloidosis | Familial amyloid polyneuropathy type I | Familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type | TTR amyloid neuropathy | Transthyretin amyloid neuropathy | Transthyretin amyloid polyneuropathy

A rare hereditary ATTR amyloidosis (hATTR) characterized by a progressive length-dependent sensorimotor axonal polyneuropathy and/or autonomic neuropathy in adulthood. Renal ocular and cardiac involvement also frequently occurs. Two different phenotypes are associated with this mutation namely early-onset V30M and late-onset V30M that differ in terms of age on onset (50 years respectively) presenting features histopathological characteristics rate of disease progression and response to therapy.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

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ATTRV30M amyloidosis?

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Advocacy Organizations

New Zealand Amyloidosis Patients Association

To make a positive and lasting impact in New Zealand, helping Amyloidosis disease patients from various disease subgroups ( AL, AA, hATTR, Wild Type) by working with local and international doctors, pharma treatment entities, as well as government agencies to bring approved funded treatment drugs into NZ for suffering patients. We desire to help build a lasting support system within the NZ health framework. We want an excellent wrap-around network of care to achieve for the sufferer to achieve a positive outcome in their well-being. This mission includes the wellness of the patient's caregiver and family whose needs, we feel, have been neglected.

My Faulty Gene

My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.

Clinical Trials

For a list of clinical trials in this disease area, please click here.