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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 ...
The ICD-10-CM and ICD-10-PCS were developed by the Centers for Medicare and Medicaid Services (CMS) and the National Center for Health Statistics (NCHS). [ 48 ] [ 49 ] There are over 70,000 ICD-10-PCS procedure codes and over 69,000 ICD-10-CM diagnosis codes, compared to about 3,800 procedure codes and roughly 14,000 diagnosis codes found in ...
The most common causes of cardiomegaly are congenital (patients are born with the condition based on a genetic inheritance), high blood pressure (which can enlarge the left ventricle causing the heart muscle to weaken over time), and coronary artery disease. In the latter case, the disease creates blockages in the heart's blood supply, leading ...
Hypertensive heart disease includes a number of complications of high blood pressure that affect the heart.While there are several definitions of hypertensive heart disease in the medical literature, [1] [2] [3] the term is most widely used in the context of the International Classification of Diseases (ICD) coding categories.
The ICD-10 Clinical Modification (ICD-10-CM) is a set of diagnosis codes used in the United States of America. [1] It was developed by a component of the U.S. Department of Health and Human services, [ 2 ] as an adaption of the ICD-10 with authorization from the World Health Organization .
Benign hypertension or benign essential hypertension are medical terms now considered obsolete, but once used to describe mild to moderate hypertension (high blood pressure). These historical terms are considered misleading, [1] as hypertension is never benign. Coonsequently, the terms have fallen out of use (see history of hypertension).