Aimed at primary care health professionals, our factsheets outline the key facts of each condition, plus clinical features, diagnosis, management and treatment.

34 documents

Multiple endocrine neoplasia type 2A

Multiple endocrine neoplasia type 2A (MEN2A) is an inherited condition, and a distinct subtype of multiple endocrine neoplasia type 2 (MEN2) - a hereditary endocrine cancer syndrome. Familial medullary thyroid cancer (FMTC) is also a subtype of MEN2. MEN2A is suspected when two or more specific endocrine tumours occur together (medullary thyroid cancer, adrenal adenoma or parathyroid adenoma/hyperplasia). The extent to which these glands are affected varies from person to person.

  • Genetic conditions

MUTYH-associated polyposis

MUTYH-associated polyposis (MAP) is a recessively inherited disorder, resulting in a high risk of colorectal adenomatous polyps and cancer, together with other manifestations.

  • Genetic conditions

Peutz-Jeghers syndrome

Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder, resulting in characteristic gastrointestinal polyps and mucocutaneous pigmentation.

  • Genetic conditions

Phenylketonuria

Phenylkentonuria (PKU) is an autosomal recessive condition that prevents the body from metabolising the amino acid phenylalanine to tyrosine, due to a deficiency in the enzyme phenylalanine hydroxylase.

  • Genetic conditions

Polymerase proofreading-associated polyposis

Polymerase proofreading-associated (PPAP) is a dominantly inherited disorder, resulting in a high risk of colorectal cancer and increased risk of other cancers. It is caused by a variants of one of the two DNA polymerase proofreading genes: POLE and POLD1.

  • Genetic conditions

Retinoblastoma

Retinoblastoma (RB) is an intraocular embryonal tumour, typically occurring during early childhood. It is the most common eye cancer in children, affecting approximately 1 in 20,000 individuals.

  • Genetic conditions

Sickle cell disease

Sickle cell disease (SCD) is an autosomal recessive genetic condition that describes a group of haemoglobin disorders caused by genetic variants in the HBB gene, resulting in the production of sickle haemoglobin (HbS) rather than normal haemoglobin A (HbA).

  • Genetic conditions

Spinal muscular atrophy

Spinal muscular atrophy (SMA) is an autosomal recessive disorder, characterised by progressive muscle weakness due to the degeneration and loss of the anterior horn cells (the lower motor neurons) in the spinal cord and the brain stem nuclei. It affects around 1 in 25,000 individuals in the UK, with a carrier frequency of between 1 in 50 and 1 in 80.

  • Genetic conditions

Von Hippel-Lindau disease

Von Hippel-Lindau (VHL) disease is a rare, inherited disorder caused by genetic variants in the VHL gene, which causes cysts and tumours to develop in various organs from late childhood.

  • Genetic conditions

Von Willebrand disease

Von Willebrand disease (VWD) is the most common heritable bleeding disorder in humans, and is caused by a low or absent levels of von Willebrand factor (VWF), a clotting protein important for forming blood clots.

  • Genetic conditions