Rare Disease Directory

Acromegaly is a rare hormonal condition caused by the body producing too much growth hormone.

Porphyria refers to a group of rare inherited metabolic conditions caused by problems in the production of haem, a substance needed to make haemoglobin (the protein in red blood cells that carries oxygen).

Alport syndrome is a rare inherited condition that primarily affects the kidneys.

C3 glomerulopathy (C3G) is a rare kidney condition caused by abnormal activation of part of the immune system called the complement system.

Cushing's syndrome is a condition caused by having too much cortisol in the body for a long time.

Fabry disease is a rare inherited condition where the body does not make enough of an enzyme called alpha-galactosidase A.

Familial chylomicronaemia syndrome (FCS) is a rare inherited condition that causes extremely high levels of triglycerides (a type of fat) in the blood.

Familial medullary thyroid cancer (familial MTC) is an inherited condition that increases the risk of developing medullary thyroid cancer, a type of thyroid cancer that arises from C-cells in the thyroid.

Friedreich's ataxia is a rare inherited condition that affects the nervous system and the heart.

Gaucher disease is a rare inherited condition in which the body does not produce enough of an enzyme called glucocerebrosidase.

Hereditary angioedema (HAE) is a rare inherited condition that causes recurrent episodes of severe swelling (angioedema).

Leber hereditary optic neuropathy (LHON) is a rare inherited condition that causes sudden or subacute loss of central vision.

Mastocytosis is a rare condition caused by an abnormal build-up of mast cells in the body.

Mucopolysaccharidoses (MPS) are a group of rare inherited metabolic conditions in which the body cannot properly break down certain complex sugars called glycosaminoglycans (GAGs), previously known as mucopolysaccharides.

Multiple Endocrine Neoplasia Type 1 (MEN1) is a rare inherited condition that causes tumours to develop in hormone-producing (endocrine) glands.

Multiple Endocrine Neoplasia type 2 (MEN2) is a rare inherited condition that increases the risk of developing certain hormone-producing tumours.

Myasthenia gravis is a rare long-term condition that affects the connection between nerves and muscles.

Neuroendocrine tumours (NETs) are rare tumours that develop from neuroendocrine cells.

Niemann-Pick disease refers to a group of rare inherited conditions that affect the body's ability to process certain fats (lipids).

Paroxysmal nocturnal haemoglobinuria (PNH) is a rare, acquired blood condition in which red blood cells break down earlier than normal.

Primary immunodeficiency (PID) refers to a group of rare inherited conditions in which part of the body's immune system does not work properly.

Turner syndrome is a rare genetic condition that affects females.