Publication, Part of Rare Condition Registration Statistics

Rare Condition Registration Statistics updated to 2022

Publication Date:: 28 Feb 2025

More information about rare conditions

Conditions reported previously

This release is an expansion of that published in February 2024. The table below lists the conditions reported here and whether they are new, updated, or not updated from the estimates previously published.

Condition	Status
Complete transposition of great arteries	Updated
Atrioventricular septal defect (AVSD)	Updated
Tetralogy of Fallot	Updated
Hypoplastic left heart syndrome (HLHS)	Updated
Diaphragmatic hernia	Updated
Gastroschisis	Updated
Omphalocele/Exomphalos	Updated
Oro-facial clefts	Updated
Spina bifida	Updated
Down's Syndrome	Updated
Edwards' syndrome	Updated
Patau's syndrome	Updated
Benign endocrine tumours of brain	Updated
Cancer of bone	Updated
Cancer of gallbladder	Updated
Cancer of the ampulla of Vater	Updated
Cancer of the hypopharynx	Updated
Cancer of the major salivary glands	Updated
Cancer of the nasal cavity and sinus	Updated
Cancer of the nasopharynx	Updated
Malignant and uncertain behaviour endocrine tumours of brain	Updated
Ocular melanoma	Updated
Peritoneal mesothelioma	Updated
Retinoblastoma	Updated
Wilms (Nephroblastoma)	Updated
Mosaic NF2-related schwannomatosis	Updated
Full NF2-related schwannomatosis	Updated
56a NEN - Merkel Cell Carcinoma of skin	Updated
Giant cell arteritis	Not updated
Scleroderma	Not updated
Polymyositis	Not updated
Wolfram syndrome	Not updated
Systemic lupus erythematosus	Not updated
Dermatomyositis	Not updated
Juvenile idiopathic arthritis	Not updated
Juvenile idiopathic inflammatory myopathy	Not updated
Eosinophilic granulomatosis with polyangiitis	Not updated
Granulomatosis with polyangiitis	Not updated
Microscopic polyangiitis	Not updated
Hairy cell leukaemia	New
Hodgkin lymphoma nodular lymphocyte predominance	New
Lymphoplasmacytic lymphoma (LPL) or Waldenstrom	New
54 NEN GEP - Neuroendocrine tumour of Gastroenteropancreatic	New
55 NEN lung, excluding SCLCs, large cell tumours, and NEN NOS	New
56b NEN - Other (excluding gastroenteropancreatic, lung and MCC of skin)	New
Cutaneous T-cell lymphoma	New
Gastrointestinal stromal sarcoma (GIST)	New
Langerhans cell histiocytosis (LCH)	New
Myelodysplastic syndromes (MDS) with isolated del(5q)	New
Splenic marginal	New
Congenital disorder of glycosylation	New
Disorder of amino acid and other organic acid metabolism, not further specified	New
Cerebral organic aciduria, not further specified	New
Glutaryl-CoA dehydrogenase deficiency	New
Classic organic aciduria, not further specified	New
Isovaleric acidemia	New
Disorder of histidine metabolism, not further specified	New
Disorder of methionine cycle and sulfur amino acid metabolism, not further specified	New
Disorder of ornithine or proline metabolism, not further specified	New
Disorder of phenylalanin or tyrosine metabolism, not further specified	New
Phenylketonuria	New
Disorder of urea cycle metabolism and ammonia detoxification, not further specified	New
Citrullinemia	New
Maple syrup urine disease, not further specified	New
Disorder of biogenic amine metabolism and transport, not further specified	New
Disorder of carbohydrate metabolism, not further specified	New
Disorder of carbohydrate absorption and transport, not further specified	New
Disorder of fructose metabolism, not further specified	New
Disorder of galactose metabolism, not further specified	New
Galactosemia	New
Glycogen storage disease, not further specified	New
Glycogen storage disease due to acid maltase deficiency	New
Glycogen storage disease due to glucose-6-phosphatase deficiency	New
Glycogen storage disease due to phosphorylase kinase deficiency	New
Disorder of energy metabolism, not further specified	New
Disorder of carnitine cycle and carnitine transport, not further specified	New
Disorder of fatty acid oxidation and ketogenesis, not further specified	New
Acyl-CoA dehydrogenase deficiency	New
Disorder of mineral absorption and transport, not further specified	New
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis, not further specified	New
Disorder of porphyrin and heme metabolism, not further specified	New
Hepatic porphyria, not further specified	New
Disorder of purine or pyrimidine metabolism, not further specified	New
Disorder of vitamin and non-protein cofactor absorption and transport, not further specified	New
Lysosomal disease, not further specified	New
Lysosomal glycogen storage disease, not further specified	New
Mucolipidosis, not further specified	New
Mucopolysaccharidosis type 1, not further specified	New
Mucopolysaccharidosis type 2, not further specified	New
Mucopolysaccharidosis type 3, not further specified	New
Mucopolysaccharidosis type 4, not further specified	New
Mucopolysaccharidosis type 6, not further specified	New
Sphingolipidosis, not further specified	New
Gaucher disease	New
Lipid storage disease	New
Mitochondrial disease, not further specified	New
Mitochondrial oxidative phosphorylation disorder, not further specified	New
Oligosaccharidosis, not further specified	New
Other metabolic disease, not further specified	New
Peroxisomal disease, not further specified	New
X-linked adrenoleukodystrophy, not further specified	New
Pyruvate metabolism disorder, not further specified	New
Rare dyslipidemia, not further specified	New
Sterol metabolism disorder, not further specified	New

Additional statistics

Currently, this publication focuses on prevalence estimates of these conditions as a means of reporting basic epidemiological information to a range of users. Over time, it will be expanded to cover other relevant information where possible. Current plans include other epidemiological measures such as incidence and survival, where the data allow.

Additional granularity

We are aware that many users require additional granularity for their purposes, such as statistics presented for different demographic characteristics and lower-level geographies. We are actively exploring the extent to which this is possible – as these data are by definition about rare conditions, it is of paramount importance to protect patient confidentiality in any publications.

Providing feedback

This publication is designated as Official Statistics in Development, in line with the Code of Practice for Official Statistics. This means that this is new information and that you can expect the publication to develop over time. We welcome your feedback as part of this development.

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Last edited: 16 June 2025 11:56 am