Synonyms: ATTRV30M-related amyloidosis | Hereditary ATTRV30M-related amyloidosis
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://www.orphadata.org. Data version April 2026
Newly diagnosed with
ATTRV30M amyloidosis?
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Advocacy Organizations
Amyloidosis Research Consortium
The Amyloidosis Research Consortium (ARC) is a patient-focused nonprofit, harnessing the power of collaboration and innovation to advance science and both improve and extend the lives of those with amyloidosis.
Charcot-Marie-Tooth Association
Our mission … to support the development of new treatments for CMT, to improve the quality of life for people with CMT, and, ultimately, to find a cure. Our vision … a world without CMT. CMTA was started by patients in 1986, and to this day is powered by a community of patients who are engaged in helping carry out and support our mission.
Children’s Cardiomyopathy Foundation
CCF's mission is to accelerate the search for causes and cures for pediatric cardiomyopathy through increased research, education, awareness, advocacy, and support to affected children and their families.
Heart of a Giant Foundation
The mission of the HGF is to achieve better health outcomes for heart diseases and related chronic health conditions in our communities and enhance the quality of life through health education, care support, and connection to community resources.
HeartCharged
Ending preventable deaths from undiagnosed heart conditions and sudden cardiac arrest, especially in young people, and providing patient-to-patient support.
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.
RareDNA Foundation
Dedicated to improving outcomes for individuals and families affected by rare DNA heart mutations by advancing awareness, access and action. We increase awareness among medical professionals and the public, provide education and resources on diagnosis and treatment, support scientific research, and advocate for faster diagnostic pathways, giving families the knowledge and care they need.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.