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: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
ATTRV30M amyloidosis?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
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.
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
To develop drugs to treat or cure CMT and to help improve the quality of life for those living with CMT.
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.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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.
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.
Help Hope Live
Help Hope Live assists individuals living with catastrophic injuries and illnesses to fundraise toward their medical expenses and related costs.
Clinical Trials
For a list of clinical trials in this disease area, please click here.