Conditions related to genes on chromosome 3

Genetics Home Reference includes these conditions related to genes on chromosome 3:

• aceruloplasminemia
• adult polyglucosan body disease
• Aicardi-Goutieres syndrome
• alkaptonuria
• ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
• asphyxiating thoracic dystrophy
• atelosteogenesis type 1
• atelosteogenesis type 3
• autosomal recessive hypotrichosis
• biotinidase deficiency
• blepharophimosis, ptosis, and epicanthus inversus syndrome
• boomerang dysplasia
• Brugada syndrome
• carnitine-acylcarnitine translocase deficiency
• cerebral cavernous malformation
• Chanarin-Dorfman syndrome
• Charcot-Marie-Tooth disease
• CHMP2B-related frontotemporal dementia
• combined pituitary hormone deficiency
• congenital myasthenic syndrome
• congenital sucrase-isomaltase deficiency
• desmoid tumor
• Diamond-Blackfan anemia
• dyskeratosis congenita
• dystrophic epidermolysis bullosa
• essential thrombocythemia
• essential tremor
• familial encephalopathy with neuroserpin inclusion bodies
• familial erythrocytosis
• familial isolated hyperparathyroidism
• familial thoracic aortic aneurysm and dissection
• glycine encephalopathy
• glycogen storage disease type IV
• GM1 gangliosidosis
• Hermansky-Pudlak syndrome
• idiopathic pulmonary fibrosis
• Kallmann syndrome
• Larsen syndrome
• Leigh syndrome
• leukoencephalopathy with vanishing white matter
• limb-girdle muscular dystrophy
• Loeys-Dietz syndrome
• Lynch syndrome
• 3-methylcrotonyl-CoA carboxylase deficiency
• 3-methylglutaconic aciduria
• microphthalmia
• mucopolysaccharidosis type IV
• multiple lentigines syndrome
• myotonic dystrophy
• nonsyndromic deafness
• nonsyndromic paraganglioma
• Noonan syndrome
• optic atrophy type 1
• osteogenesis imperfecta
• pilomatricoma
• pontocerebellar hypoplasia
• porphyria
• propionic acidemia
• protein S deficiency
• pseudocholinesterase deficiency
• pyruvate dehydrogenase deficiency
• retinitis pigmentosa
• Romano-Ward syndrome
• septo-optic dysplasia
• small fiber neuropathy
• SOX2 anophthalmia syndrome
• spondylocarpotarsal synostosis syndrome
• Usher syndrome
• von Hippel-Lindau syndrome
• Waardenburg syndrome
• xeroderma pigmentosum