Chromosome 22 disease list
==========================


At least 27 human disorders are known to involve chromosome 22. Other genes may also be associated with some of these disorders.

*   Amyotrophic lateral schlerosis, susceptibility to

*   Breast cancer, t(11:22) associated

*   Cat-eye syndrome

*   Cataract, cerulean, type 2

*   Bernard-Soulier syndrome, type B

*   Breakpoint cluster region (CML)

*   Colon cancer (deletions)

*   Deafness, autosomal dominant 17

*   Dermatofibrosarcoma protuberans

*   DiGeorge syndrome

*   Ewing's sarcoma breakpoint region 1

*   Glioma of brain (deletions)

*   Glucose-galactose malabsorption

*   Glutathionuria

*   Heme oxygenase-1 def.

*   Hirschsprung disease (dominant megacolon)

*   Hyperprolinemia type 1

*   Lysosomal a-N-acetylgalactosaminidase deficiency

*   Malignant rhabdoid tumour

*   Meningioma

*   Mental retardation, chr. 22-associated

*   Metachromatic leukodystrophy

*   Myoneurogastrointestinal encephalomyopathy

*   Neurofibromatosis, type 2

*   Opitz G/BBB syndrome, autosomal dominant

*   Ovarian cancer (deletions)

*   Pheochromocytoma

*   Pulmonary alveolar proteinosis (rare cases)

*   Schizophrenia 4

*   Schwannomatosis

*   Sorsby's fundus dystrophy

*   Spinocerebellar ataxia 10

*   Succinylpurinemic autism

*   Thrombofilia due to heparin cofactor 2 def.

*   Transcobalamin 2 deficiency

*   22q13 deletion syndrome