At least 27 human disorders are known to involve chromosome 22. Other genes may also be associated with some of these disorders.
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Amyotrophic lateral schlerosis, susceptibility to
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Breast cancer, t(11:22) associated
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Cat-eye syndrome
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Cataract, cerulean, type 2
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Bernard-Soulier syndrome, type B
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Breakpoint cluster region (CML)
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Colon cancer (deletions)
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Deafness, autosomal dominant 17
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Dermatofibrosarcoma protuberans
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DiGeorge syndrome
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Ewing's sarcoma breakpoint region 1
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Glioma of brain (deletions)
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Glucose-galactose malabsorption
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Glutathionuria
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Heme oxygenase-1 def.
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Hirschsprung disease (dominant megacolon)
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Hyperprolinemia type 1
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Lysosomal a-N-acetylgalactosaminidase deficiency
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Malignant rhabdoid tumour
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Meningioma
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Mental retardation, chr. 22-associated
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Metachromatic leukodystrophy
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Myoneurogastrointestinal encephalomyopathy
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Neurofibromatosis, type 2
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Opitz G/BBB syndrome, autosomal dominant
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Ovarian cancer (deletions)
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Pheochromocytoma
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Pulmonary alveolar proteinosis (rare cases)
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Schizophrenia 4
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Schwannomatosis
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Sorsby's fundus dystrophy
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Spinocerebellar ataxia 10
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Succinylpurinemic autism
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Thrombofilia due to heparin cofactor 2 def.
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Transcobalamin 2 deficiency
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22q13 deletion syndrome