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Bloom syndrome is an autosomal recessive disorder, caused by mutations in the maternally- and paternally-derived copies of the gene BLM. [13] As in other autosomal recessive conditions, the parents of an individual with Bloom syndrome do not necessarily exhibit any features of the syndrome.
Bloom syndrome protein is a protein that in humans is encoded by the BLM gene and is not expressed in Bloom syndrome. [5] The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or ...
Bloom syndrome: Fanconi anaemia: Gaucher's disease: Legius syndrome: Marfan syndrome: McCune–Albright syndrome: Multiple endocrine neoplasia type 1: Neurofibromatosis type 1: Neurofibromatosis type 1-like syndrome: Noonan syndrome: Peutz–Jeghers syndrome: Silver–Russell syndrome: Tuberous sclerosis: Von Hippel–Lindau disease
Chromosome instability syndromes include several inherited neurodegenerative diseases that are due to mutations in genes that encode enzymes necessary for DNA repair. Epigenetic alterations often occur in association with the DNA repair defect, and such alterations likely have a role in the etiology of the disease. Chromosome instability ...
Genetic risk factors include: Down syndrome, Fanconi anemia, familial monosomy 7, Shwachman–Diamond syndrome, Bloom Syndrome, as well as mutations in specific gene mutations. [ 3 ] [ 39 ] Besides genetic risk factors, exposure to ionizing radiation is a known risk factor for childhood leukemia.
Diseases and disorders GAD Generalized anxiety disorder: GAN Giant axonal neuropathy: GAS disease Group A Streptococcal disease: GAVE Gastric antral vascular ectasia (see Watermelon stomach) GBS Guillain–Barré syndrome: GBS disease Group B Streptococcal disease: GCE Glycine encephalopathy: GD Gestational diabetes: GERD Gastroesophageal ...
DNA repair defects are seen in nearly all of the diseases described as accelerated aging disease, in which various tissues, organs or systems of the human body age prematurely. Because the accelerated aging diseases display different aspects of aging, but never every aspect, they are often called segmental progerias by biogerontologists .
Blepharophimosis, ptosis, epicanthus inversus syndrome; Blind loop syndrome; Bloom syndrome; Blount's disease; Blue baby syndrome; Blue diaper syndrome; Blue rubber bleb nevus syndrome; Blue toe syndrome; Bobble-head doll syndrome; Body fat redistribution syndrome; Boerhaave syndrome; Bogart–Bacall syndrome; Bohring–Opitz syndrome; Bonnet ...