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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 ...
glucosyltransferase I deficiency causes ALG6-CDG (CDG-Ic) [22] glucosyltransferase II deficiency causes ALG8-CDG (CDG-Ih). [23] Glc3Man9GlcNAc2-PP-Dol A protein with hitherto unknown activity, MPDU-1, is required for the efficient presentation of Dol-P-Man and Dol-P-Glc. Its deficiency causes MPDU1-CDG (CDG-If). [24]
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]
Signs and symptoms arising from liver damage in Alagille syndrome may include a yellowish tinge in the skin and the whites of the eyes (), itching (), pale stools (), an enlarged liver (hepatomegaly), an enlarged spleen (splenomegaly) and deposits of cholesterol in the skin (). [9]
More specifically, optimal levels are generally close to a central tendency of the values found in the population. However, usual and optimal levels may differ substantially, most notably among vitamins and blood lipids, so these tables give limits on both standard and optimal (or target) ranges.
The QoL-AGHDA was published in 1999 and was funded by Pharmacia & Upjohn AB, Sweden. [4] The research company that developed the QoL-AGHDA was Galen Research. [5] The measure was originally created for use in UK English, Swedish, Italian, German and Spanish, but later on it was also adapted for the United States, Belgium, the Netherlands, Brazil and Denmark.
Hypogammaglobulinemia is an immune system disorder in which not enough gamma globulins are produced in the blood (thus hypo-+ gamma + globulin + -emia).This results in a lower antibody count, which impairs the immune system, increasing risk of infection.
The symptoms of Leydig cell hypoplasia include pseudohermaphroditism, i.e., feminized, ambiguous, or relatively mildly underdeveloped (e.g., micropenis, severe hypospadias, [6] and/or cryptorchidism [undescended testes]) external genitalia, a female gender identity or gender variance, hypergonadotropic hypogonadism (hypogonadism despite high levels of gonadotropins), delayed, impaired, or ...