Hereditary cryohydrocytosis with reduced stomatin

Get in touch with RARE Concierge.

Contact RARE Concierge

Hereditary cryohydrocytosis with reduced stomatin

Synonyms: CHC type 2 | Hereditary cryohydrocytosis type 2 | Stomatin-deficient cryohydrocytosis | sdCHC

A rare hemolytic anemia characterized by combination of neurologic features such as psychomotor delay seizures variable movement disorders and hemolytic anemia with stomatocytosis resulting in cation-leaky erythrocytes pseudohyperkalemia hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.

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 Data version November 2023

Newly diagnosed with
Hereditary cryohydrocytosis with reduced stomatin?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Youth And Women for Opportunities Uganda-YWOU

Our mission supports Rare, orphan and undiagnosed diseases diagnosis, care and treatment, education, awareness and empowering health care professionals and patients care takers of rare, orphan and undiagnosed diseases arena in Uganda, build capacity and bridge lack of clinical knowledge and experience and provide search/quest for diagnostic laboratories, I advocate for changes in laws, practices

Youth and Women for Opportunities Uganda-YWOU

Youth and Women for Opportunities-YWOU an organization that we represent is patient organization re-presentative, patient and institution and individual capacity builder supporting PLWRD’s to obtain diagnosis, treatment and drugs for those suffering consequences of being undiagnosed or misdiagnosed and lack treatment and those who lack precise diagnosis for rare, orphan and undiagnosed diseases preventing PLWRD’s accessing the most adapted care, treatment or surgery, have delayed access to the most appropriate care, treatment or surgery

Clinical Trials

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