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208211 Ensembl ENSG00000033011 ENSMUSG00000039427 UniProt Q9BT22 Q921Q3 RefSeq (mRNA) NM_019109 NM_001330504 NM_145362 RefSeq (protein) NP_001317433 NP_061982 NP_663337 Location (UCSC) Chr 16: 5.03 – 5.09 Mb Chr 16: 5.05 – 5.06 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Chitobiosyldiphosphodolichol beta-mannosyltransferase is an enzyme that is encoded by ALG1 whose structure ...
Selective immunoglobulin A deficiency - Selective immunoglobulin A deficiency is classified as an IgA level below 7mg/dl (0.4375 μmol/L) with normal levels of other immunoglobulins. Some people with selective immunoglobulin A deficiency are prone to infections and develop other autoimmune disorders such as lupus, celiac disease and ...
Many people with ALGS have similar facial features, including a broad, prominent forehead, deep-set eyes, and a small pointed chin. While these distinct facial features are often presented in ALGS patients, the features are presumably not due to Alagille syndrome, but they are characteristic of patients with intrahepatic cholestatic liver ...
This enzyme is responsible for the interconversion of mannose-6-phosphate and mannose-1-phosphate, and its deficiency leads to a shortage in GDP-mannose and dolichol (Dol)-mannose (Man), two donors required for the synthesis of the lipid-linked oligosaccharide precursor of N-linked glycosylation.
Patients diagnosed with isolated primary immunoglobulin M deficiency frequently exhibit recurrent infections with common microorganisms as well as a higher incidence of autoimmune and allergy disorders. More than 80% of patients with isolated primary immunoglobulin M deficiency have recurrent infections as their presenting symptom.
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]
An analysis of data from more than 8,000 adults in the U.S. revealed that 14% had low iron blood levels, a condition known as absolute iron deficiency, while 15% had the right iron levels but ...
In addition, some values, including troponin I and brain natriuretic peptide, are given as the estimated appropriate cutoffs to distinguish healthy people from people with specific conditions, which here are myocardial infarction and congestive heart failure, respectively, for the aforementioned substances.