Multiple endocrine neoplasia type 2A (MEN2A) is an inherited condition and a distinct subtype of MEN2 (multiple endocrine neoplasia type 2 – a hereditary endocrine cancer syndrome). Familial medullary thyroid cancer (FMTC) is also a subtype of MEN2 (see FMTC factsheet). MEN2A is suspected when two or more specific endocrine tumours occur (medullary thyroid cancer, adrenal adenoma or parathyroid adenoma/ hyperplasia). The extent to which these glands are affected varies from person to person.
MYH-associated polyposis (MAP), also known as MUTYH polyposis, is a bowel cancer predisposition syndrome. Individuals with MYH-associated polyposis develop moderate numbers of polyps in their bowel; often between 10 and a few hundred.
Retinoblastoma (RB) is an intraocular embryonal tumour of childhood. It affects approximately 1 in 20,000 children and is the common eye cancer in children.
Sickle cell anaemia (SCA) is an autosomal recessive condition. ‘Sickle cell disease’ describes a group of disorders of haemoglobin, which are caused by an inherited genetic alteration (mutation) in the beta-globin gene.
Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterised by progressive muscle weakness owing to the degeneration and loss of the anterior horn cells (the lower motor neurons) in the spinal cord and the brain stem nuclei. SMA occurs in about 1 in 25,000 individuals in the UK, with a carrier frequency of 1 in 50-80.
Von Hippel-Lindau (VHL) disease is a rare, inherited disorder caused by a genetic alteration (or mutation) in the VHL gene. VHL causes cysts and tumours to develop in various organs from late childhood.