The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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Is there a diet to help with my disease? See answer
Can prenatal genetic screening be done for the ATP2C1 responsible for Hailey-Hailey disease? If so, how who you advise a couple to move forward if they were wanting to conceive a child free of this genetic disorder? The mother is the gene carrier. See answer