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GeneReviews® [Internet].

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2024.

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Select item 14634341.

Disorders of Intracellular Cobalamin Metabolism.

Sloan JL, Carrillo N, Adams D, et al. 2008 Feb 25 [Updated 2021 Dec 16].

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Select item 32994722.

Perrault Syndrome.

Newman WG, Friedman TB, Conway GS, et al. 2014 Sep 25 [Updated 2018 Sep 6].

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Select item 14666503.

Joubert Syndrome.

Parisi M, Glass I. 2003 Jul 9 [Updated 2017 Jun 29].

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Select item 14682184.

C3 Glomerulopathy.

Martín B, Smith RJH. 2007 Jul 20 [Updated 2018 Apr 5].

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Select item 14787985.

Kohl S, Jägle H, Wissinger B, et al. 2004 Jun 24 [Updated 2018 Sep 20].

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Select item 14907266.

Aicardi-Goutières Syndrome.

Crow YJ. 2005 Jun 29 [Updated 2016 Nov 22].

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Select item 14861587.

Isolated Methylmalonic Acidemia.

Manoli I, Sloan JL, Venditti CP. 2005 Aug 16 [Updated 2022 Sep 8].

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Select item 14932928.

Permanent Neonatal Diabetes Mellitus.

De León DD, Stanley CA. 2008 Feb 8 [Updated 2016 Jul 29].

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Select item 14599309.

Acute Intermittent Porphyria.

Sardh E, Barbaro M. 2005 Sep 27 [Updated 2024 Feb 8].

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Select item 146159810.

Acid Sphingomyelinase Deficiency.

Wasserstein MP, Schuchman EH. 2006 Dec 7 [Updated 2023 Apr 27].

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Select item 148125211.

Junctional Epidermolysis Bullosa.

Pfendner EG, Lucky AW. 2008 Feb 22 [Updated 2018 Dec 20].

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Select item 304888412.

PIK3CA-Related Overgrowth Spectrum.

Mirzaa G, Graham JM Jr, Keppler-Noreuil K. 2013 Aug 15 [Updated 2023 Apr 6].

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Select item 448857013.

RAB18 Deficiency.

Handley M, Sheridan E. 2018 Jan 4.

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Select item 147498414.

Adenosine Deaminase Deficiency.

Hershfield M, Tarrant T. 2006 Oct 3 [Updated 2024 Mar 7].

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Select item 526790615.

SETD2 Neurodevelopmental Disorders.

Pappas J, Rabin R. 2021 Dec 30 [Updated 2022 Sep 22].

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Select item 146324016.

Mucopolysaccharidosis Type I.

Clarke LA. 2002 Oct 31 [Updated 2024 Apr 11].

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Select item 533979417.

PNPO Deficiency.

Plecko B, Mills P. 2022 Jun 23.

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Select item 147271618.

Mehta A, Hughes DA. 2002 Aug 5 [Updated 2024 Apr 11].

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Select item 149346219.

Familial Hemophagocytic Lymphohistiocytosis.

Zhang K, Astigarraga I, Bryceson Y, et al. 2006 Mar 22 [Updated 2024 Jun 6].

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Select item 146930420.

Alpha-Mannosidosis.

Ficicioglu C, Stepien KM. 2001 Oct 11 [Updated 2024 Jun 13].

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Supplemental Content

Images search in this book

Figure 2.

Pathogenic variants (mutations) characterized in individuals with aceruloplasminemia and their family members. The structure of the human ceruloplasmin gene consists of 20 exons (exon numbering based on Kono & Miyajima [2015]). Alternative splicing at exon 18 (see Figure 3) allows for the secreted type or GPI-linked type of ceruloplasmin isoforms, as indicated. The indicated pathogenic variants are referenced in the text and some are included in the Author's unpublished data. In this figure, the numbering of amino acid residues is based on the mature protein after cleavage of the 19-amino-acid signal peptide.
From Kono S & Miyajima H [2015]
Note: Pathogenic variants and their nomenclature in Figure 3 were provided by the author (H Miyajima) and not reviewed by GeneReviews staff.

Aceruloplasminemia.

Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.
Figure 4.

Ceruloplasmin (Cp) biosynthesis. Several different mechanisms by which CP pathogenic missense variants result in the lack of enzymatic activity. As p.Pro177Arg, p.Gly176Arg, and p.Ile9Phe mutated protein is retained in the endoplasmic reticulum, aceruloplasminemia is caused by defects in protein trafficking. Pathogenic variants p.Gly631Arg, p.Ala331Asp, and p.Met966Val cause CP deficiency through other mechanisms: indirect dysfunction of a copper-binding site or other structural abnormalities in the protein that prevent the incorporation of copper (Cu) into CP. Protein variant p.His978Gln has no ferroxidase activity. Protein variants p.Gln146Glu and p.Gly876Ala degrade rapidly when holoceruloplasmin is secreted into the extracellular space. In this figure, the numbering of amino acid residues is based on the mature protein after cleavage of the 19-amino-acid signal peptide.
Note: Pathogenic variants and their nomenclature in Figure 4 were provided by the author (H Miyajima) and not reviewed by GeneReviews staff.

Aceruloplasminemia.

Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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