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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 Congenital disorder of glycosylation: CDGS Carbohydrate deficient glycoprotein syndrome: CDHF Chronic diastolic heart failure CEP Congenital erythropoietic porphyria: CESD Cholesteryl ester storage disease: CF Cystic fibrosis: CFIDS Chronic fatigue immune dysfunction syndrome: CFS Chronic fatigue syndrome: CGBD Corticobasal ganglionic ...
Capillary blood glucose (British medical colloquialism originating from Boehringer Mannheim, a manufacturer of early glucose meters, today a part of Boehringer Ingelheim.) BMBx: Bone marrow biopsy: BMC: bone mineral content: BMD: bone mineral density (also termed bone mass measurement) BMI: body mass index: BMP: basic metabolic panel: BMR ...
This is a list of abbreviations used in medical prescriptions, including hospital orders (the patient-directed part of which is referred to as sig codes). This list does not include abbreviations for pharmaceuticals or drug name suffixes such as CD, CR, ER, XT (See Time release technology § List of abbreviations for those).
Second, medical roots generally go together according to language, i.e., Greek prefixes occur with Greek suffixes and Latin prefixes with Latin suffixes. Although international scientific vocabulary is not stringent about segregating combining forms of different languages, it is advisable when coining new words not to mix different lingual roots.
Past medical history (see also medical history) PSI: Pneumonia severity index: PSP: phenylsulphtalein: PSS: progressive systemic sclerosis (see scleroderma) PSVT: paroxysmal supraventricular tachycardia: PT: prothrombin time physical therapy (physiotherapy) Pt. patient (from Latin patiens, meaning "one who endures" or "one who suffers") PTA