Gaucher Disease, Type I

Alternative Names

  • GD I
  • Gaucher Disease, Noncerebral Juvenile
  • Glucocerebrosidase Deficiency
  • Acid Beta-Glucosidase Deficiency
  • GBA Deficiency

Associated Genes

Glucosidase, Beta, Acid
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

230800

Mode of Inheritance

Autosomal recessive

Gene Map Locus

1q22

Description

Gaucher disease is a rare autosomal recessive disorder of lipid metabolism, characterized by a build of glucocerebroside in the body cells. Characteristic signs and symptoms of the disease include yellowish pigmentation of the skin, hepatosplenomegaly, complicated by splenic infarctions, skeletal abnormalities, including osteopenia, pathological fractures, bone infarctions, and corticomedullary osteonecrosis, pingueculae of the eyes, anemia, thrombocytopenia, and growth retardation. Type I Gaucher Disease does not involve any direct neurological features, and is therefore, known as the non-neuropathic form of the disorder.

The condition results from mutations in the GBA gene that codes for glucocerebrosidase, a lysosomal enzyme. This in turn leads to the accumulation of beta-glucocerebrosidase deposits in the the liver, spleen and bone marrow cells.  

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
230800.1PalestineMale Thrombocytopenia; Splenomegaly; Ichthy...NM_000157.3:c.854T>CHomozygousAutosomal, RecessiveAl-Jasmi et al. 2013
230800.2.1LebanonMaleYesYes Hepatosplenomegaly; Epistaxis; Leu...NM_000157.3:c.1448T>C, NM_000157.3:c.259C>THeterozygousAutosomal, RecessiveEl-Zahabi et al, 2007
230800.2.2LebanonMaleYesYes Hepatosplenomegaly; Failure to thrive;...NM_000157.3:c.1448T>C, NM_000157.3:c.259C>THeterozygousAutosomal, RecessiveEl-Zahabi et al, 2007 Nephew of 230800.2.1
230800.3.1LebanonMaleYesYes Anemia; Thrombocytopenia; Fatigue; ...NM_000157.4:c.1228C>GHomozygousAutosomal, RecessiveShamseddine et al, 2004 Proband
230800.3.2LebanonMaleYesYes Anemia; Thrombocytopenia; Hepatospleno...NM_000157.4:c.1228C>GHomozygousAutosomal, RecessiveShamseddine et al, 2004 Brother of 230800.3....
230800.3.3LebanonMaleYesYes Anemia; Thrombocytopenia; Oral bleedin...NM_000157.4:c.1228C>GHomozygousAutosomal, RecessiveShamseddine et al, 2004 Brother of 230800.3....
230800.3.4LebanonMaleYesYes Splenomegaly; OsteopeniaNM_000157.4:c.1228C>GHomozygousAutosomal, RecessiveShamseddine et al, 2004 Nephew of 230800.3.1
230800.3.5LebanonFemaleYesYes Hypotonia; Hyperreflexia; Growth delay...NM_000157.4:c.1228C>GHomozygousAutosomal, RecessiveShamseddine et al, 2004 Niece of 230800.3.1,...
230800.3.6LebanonFemaleYesYes HepatosplenomegalyNM_000157.4:c.1228C>GHomozygousAutosomal, RecessiveShamseddine et al, 2004 First cousin, twice ...
230800.4LebanonMaleNo Hepatosplenomegaly; Pallor; Irritabili...NM_000157.3:c.1448T>C, NM_000157.4:c.1228C>GHeterozygousAutosomal, RecessiveYassin et al. 2008

Other Reports

Oman

Kent et al. (1998) reported pathological fracture of the humerus of a three-and-a-half year-old boy already diagnosed with Gaucher's disease. The patient had three (two brothers and one sister) siblings who had died of the disease in their childhood. [Kent L, Kafil A, George C. Pathological fracture in Gaucher's disease. Oman Med J. 1998; 14(3):53-4.]

Joshi et al. (2002) carried out a retrospective analysis of all patients born with inborn errors of metabolism in Oman between June 1998 and December 2000. Among the 82 patients, two children were diagnosed with Gaucher disease [CTGA Database Editor's note: Computed annual incidence rate is 1.6/100,000]. 

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