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PMM2 deficiency or PMM2-CDG, previously CDG-Ia, is a very rare genetic disorder caused by mutations in PMM2. It is an autosomal recessive disease that is the most common type of congenital disorder of glycosylation or CDG. [2] PMM2-CDG is the most common of a growing family of more than 130 extremely rare inherited metabolic disorders. [3]
Since 2009, most researchers use a different nomenclature based on the gene defect (e.g. CDG-Ia = PMM2-CDG, CDG-Ib = PMI-CDG, CDG-Ic = ALG6-CDG etc.). [33] The reason for the new nomenclature was the fact that proteins not directly involved in glycan synthesis (such as members of the COG-family [ 34 ] and vesicular H+-ATPase) [ 35 ] were found ...
5373 54128 Ensembl n/a ENSMUSG00000022711 UniProt O15305 Q9Z2M7 RefSeq (mRNA) NM_000303 NM_016881 NM_001362485 RefSeq (protein) NP_000294 NP_058577 NP_001349414 Location (UCSC) n/a Chr 16: 8.46 – 8.48 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Phosphomannomutase 2 is an enzyme that in humans is encoded by the PMM2 gene. Function Phosphomannomutase 2 catalyzes the isomerization ...
CDG I (DPM3) some of the symptoms at birth and throughout the infant's life are weakness or poor muscle tone. The individual may present with cardiomyopathy (no outflow obstruction), a rise in serum creatine kinase might be present as well.
A prevalence rate of 0.61 per 1,000 and 1.05 per 1,000 live births respectively was reported by Croen, Shaw, Wasserman and Tolarova (1998). In Malawi there is a reported low prevalence rate for cleft lip and/or palate, 0.7 per 1,000 live births (Chisi, Igbibi, & Msamati, 2000). Suleiman et al. (2005) found that the prevalence rate of clefting ...
A. ACDC (medicine) Acrofrontofacionasal dysostosis; Acromesomelic dysplasia; Acyl-CoA oxidase deficiency; Adenosine deaminase 2 deficiency; AFF2; Age of onset
ALG1-CDG is an autosomal recessive congenital disorder of glycosylation caused by biallelic pathogenic variants in ALG1. The first cases of ALG1-CDG were described in 2004, and the causative gene was identified at the same time. This disorder was originally designated CDG-IK, under earlier nomenclature for congenital disorders of glycosylation. [1]
The prevalence of African Americans with diabetes is estimated to triple by 2050, while the prevalence of white Americans is estimated to double. [3] The overall prevalence increases with age, with the largest increase in people over 65 years of age. [3] The prevalence of diabetes in America is estimated to increase to 48.3 million by 2050. [3]