欧博Types & Causes of HypoPARAthyroidism
Gene Mutations and Disorders
Currently there are 26 identified hypoPARAthyroidism gene mutations:
ACADM, AIRE, ATP1A1, CASR, CHD7, CLDN16, CLDN19, CNNM2, DHCR7, EGF, FAM111A, FXYD2, GATA3, GCM2, GNA11, HADHA, HADHB, KCNA1, NEBL, PTH, SEMA3E, SLC12A3, SOX3, TBCE, TBX1, TRPM6
Genetic forms of hypoPARAthyroidism include disorders of parathyroid gland formation, parathyroid hormone secretion, and parathyroid gland damage (Mannstadt et al. 2022). Disorders of parathyroid gland formation can be inherited in an autosomal dominant (TBX1, NEBL, SEMAE3, CHD7, GATA3, FAM111A, GCM2), autosomal recessive (TBCE, HADHA, HADHB, ACADM, DHCR7, GCM2), or X-linked manner (SOX3). Disorders of parathyroid hormone secretion can be inherited in an autosomal dominant (CASR, GNA11, PTH, FXYD2, CNNM2, ATP1A1, KCNA1) or autosomal recessive manner (PTH, TRPM6, CLDN16, EGF, CLDN19, CNNM2, SLC12A3). Disorders consisting of parathyroid gland damage can be inherited in an autosomal dominant or autosomal recessive manner.
Calcilytix (a Bridgebio company) offers free genetic testing and counseling for non-surgical hypoPARAthyroidism patients. It must be ordered by a physician.
Dr ordered genetic testing link
Patient ordered genetic testing link
More Resources About Genetic Hypoparathyroidism