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Glycoprotein storage disease

MedGen UID:: 343516
•Concept ID:: C1856275
•: Disease or Syndrome

Synonym:	Glycoprotein Storage Disease

Monarch Initiative:	MONDO:0009296
OMIM®:	232900

Clinical features

From HPO

Gout

MedGen UID:: 42280
•Concept ID:: C0018099
•: Disease or Syndrome

Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues.

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Splenomegaly

MedGen UID:: 52469
•Concept ID:: C0038002
•: Finding

Abnormal increased size of the spleen.

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Abnormality of the immune system
- Splenomegaly
Abnormality of the musculoskeletal system
- Gout

Recent clinical studies

Etiology

Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis-A cross-sectional study.

Sláma T, Garbade SF, Kölker S, Hoffmann GF, Ries M
J Inherit Metab Dis 2019 Mar;42(2):295-302. Epub 2019 Jan 28 doi: 10.1002/jimd.12010. PMID: 30693535

Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders.

Parker EI, Xing M, Moreno-De-Luca A, Harmouche E, Terk MR
Br J Radiol 2014 Jan;87(1033):20130467. Epub 2013 Nov 14 doi: 10.1259/bjr.20130467. PMID: 24234586 Free PMC Article

See all (2)

Diagnosis

Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis-A cross-sectional study.

Sláma T, Garbade SF, Kölker S, Hoffmann GF, Ries M
J Inherit Metab Dis 2019 Mar;42(2):295-302. Epub 2019 Jan 28 doi: 10.1002/jimd.12010. PMID: 30693535

Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders.

Parker EI, Xing M, Moreno-De-Luca A, Harmouche E, Terk MR
Br J Radiol 2014 Jan;87(1033):20130467. Epub 2013 Nov 14 doi: 10.1259/bjr.20130467. PMID: 24234586 Free PMC Article

Glycoprotein storage disease. A new entity.

Zugibe FT, Gilbert EF, Gaziano D
Am J Med 1969 Jul;47(1):135-40. doi: 10.1016/0002-9343(69)90247-2. PMID: 5794821

See all (3)

Therapy

AAV-mediated gene therapy for sialidosis.

van de Vlekkert D, Hu H, Weesner JA, Fremuth LE, Brown SA, Lu M, Gomero E, Campos Y, Sheppard H, d'Azzo A
Mol Ther 2024 Jul 3;32(7):2094-2112. Epub 2024 May 25 doi: 10.1016/j.ymthe.2024.05.029. PMID: 38796704 Free PMC Article

See all (1)

Prognosis

Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis-A cross-sectional study.

Sláma T, Garbade SF, Kölker S, Hoffmann GF, Ries M
J Inherit Metab Dis 2019 Mar;42(2):295-302. Epub 2019 Jan 28 doi: 10.1002/jimd.12010. PMID: 30693535

See all (1)

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Glycoprotein storage disease

Clinical features

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

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