Chromosome 22 disease and syndrome list

- Pheochromocytoma

- Meningioma

- Cat eye syndrome

- Hyperprolinemia type 1

- DiGeorge syndrome

- Bernard-Soulier syndrome, type B

- Thrombophilia due to heparin cofactor

- Breakpoint cluster region (CML)

- Malignant rhabdoid tumor

- Glutathionuria

- Breast cancer

- Cataract, cerulean, type 2

- Opitz G/BBB syndrome, autosomal dominant

- Schizophrenia

- Ewing sarcoma breakpoint

- Amyotrophic lateral sclerosis (susceptibility to)

- Neurofibromatosis, type 2

- Transcobalamin 2 deficiency

- Glucose-galactose malabsorption

- Sorsby’s fundus dystrophy

- Heme oxygenase

- Schwannomatosis

- Pulmonary alveolar proteinosis (rare cases)

- Deafness, autosomal dominant

- Colon cancer

- Hirschsprung disease (dominant megacolon)

- Spinocrebellar ataxia

- Mental retardation, chromosome 22 associated

- Ovarian cancer

- Dermatofibrosarcoma protuberans

- Succinylpurinemic autism

- Lysosomal alpha-N-acetylgalactosaminidase deficiency

- Myoneurogastrointestinal encephalomyopathy

- Metachromatic leukodystrophy

- Glioma of brain

Source: The Sanger Centre, Hinxton, Cambridge, UK.