Conditions related to genes on chromosome 1

Genetics Home Reference includes these conditions related to genes on chromosome 1:

• actin-accumulation myopathy
• adenosine monophosphate deaminase deficiency
• age-related macular degeneration
• Alagille syndrome
• Alzheimer disease
• amyotrophic lateral sclerosis
• anencephaly
• ankylosing spondylitis
• arrhythmogenic right ventricular cardiomyopathy
• atypical hemolytic-uremic syndrome
• auriculo-condylar syndrome
• autosomal dominant nocturnal frontal lobe epilepsy
• autosomal recessive primary microcephaly
• Bartter syndrome
• 3-beta-hydroxysteroid dehydrogenase deficiency
• breast cancer
• cap myopathy
• carnitine palmitoyltransferase II deficiency
• catecholaminergic polymorphic ventricular tachycardia
• Charcot-Marie-Tooth disease
• Chediak-Higashi syndrome
• chronic granulomatous disease
• Coffin-Siris syndrome
• color vision deficiency
• congenital fiber-type disproportion
• congenital hypothyroidism
• congenital insensitivity to pain with anhidrosis
• Cowden syndrome
• Crohn disease
• dense deposit disease
• Diamond-Blackfan anemia
• dihydropyrimidine dehydrogenase deficiency
• early-onset glaucoma
• Ehlers-Danlos syndrome
• Emery-Dreifuss muscular dystrophy
• essential thrombocythemia
• factor V deficiency
• factor V Leiden thrombophilia
• familial adenomatous polyposis
• familial cold autoinflammatory syndrome
• familial erythrocytosis
• familial hemiplegic migraine
• familial hypertrophic cardiomyopathy
• familial hypobetalipoproteinemia
• familial isolated hyperparathyroidism
• familial restrictive cardiomyopathy
• Fuchs endothelial dystrophy
• fucosidosis
• fumarase deficiency
• galactosemia
• gastrointestinal stromal tumor
• Gaucher disease
• Gitelman syndrome
• GLUT1 deficiency syndrome
• glycogen storage disease type III
• Greenberg dysplasia
• hemochromatosis
• hereditary antithrombin deficiency
• hereditary leiomyomatosis and renal cell cancer
• hereditary paraganglioma-pheochromocytoma
• hereditary sensory and autonomic neuropathy type V
• homocystinuria
• Hutchinson-Gilford progeria syndrome
• 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
• hypercholesterolemia
• hypermanganesemia with dystonia, polycythemia, and cirrhosis
• hyperparathyroidism-jaw tumor syndrome
• hyperprolinemia
• hypohidrotic ectodermal dysplasia
• hypokalemic periodic paralysis
• hypophosphatasia
• idiopathic inflammatory myopathy
• intranuclear rod myopathy
• junctional epidermolysis bullosa
• juvenile idiopathic arthritis
• Kufs disease
• Leber congenital amaurosis
• leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation
• leukoencephalopathy with vanishing white matter
• limb-girdle muscular dystrophy
• malignant hyperthermia
• maple syrup urine disease
• medium-chain acyl-CoA dehydrogenase deficiency
• Muckle-Wells syndrome
• multiminicore disease
• multiple epiphyseal dysplasia
• nemaline myopathy
• neonatal onset multisystem inflammatory disease
• neuroblastoma
• nonsyndromic deafness
• nonsyndromic paraganglioma
• Noonan syndrome
• osteogenesis imperfecta
• Parkinson disease
• popliteal pterygium syndrome
• porphyria
• primary myelofibrosis
• psoriatic arthritis
• pyruvate kinase deficiency
• REN-related kidney disease
• retinitis pigmentosa
• rhizomelic chondrodysplasia punctata
• severe congenital neutropenia
• Shprintzen-Goldberg syndrome
• spina bifida
• Stargardt macular degeneration
• Stickler syndrome
• systemic scleroderma
• thiamine-responsive megaloblastic anemia syndrome
• thrombocytopenia-absent radius syndrome
• trimethylaminuria
• type 1 diabetes
• Usher syndrome
• van der Woude syndrome
• vitiligo
• Vohwinkel syndrome
• WNT4 Müllerian aplasia and ovarian dysfunction