Gaucher Disease, Type I malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Respiratory diseases, Bone diseases, Metabolic diseases, Cardiovascular diseases
2CDC, 11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 37MedlinePlus, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 48NINDS, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
See all MalaCards sources
Aliases & Descriptions for Gaucher Disease, Type I:
Orphanet epidemiological data:53
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (Sweden); Age of onset: All ages
gaucher disease type 1:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages
gaucher disease, type i:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Eye diseases, Respiratory diseases, Bone diseases, Cardiovascular diseases
ICD10: 30 29
Rare neurological diseases
Rare eye diseases
Rare respiratory diseases
Rare systemic and rhumatological diseases
Rare bone diseases
Inborn errors of metabolism
OMIM:51 Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficient activity of... (230800) more...
MalaCards based summary: Gaucher Disease, Type I, also known as gaucher disease, is related to gaucher disease, type iii and gaucher disease, type ii, and has symptoms including abnormality of the genital system, splenomegaly and thrombocytopenia. An important gene associated with Gaucher Disease, Type I is GBA (Glucosylceramidase Beta), and among its related pathways are Other glycan degradation and Amino sugar and nucleotide sugar metabolism. Affiliated tissues include bone, liver and spleen, and related mouse phenotypes are liver/biliary system and renal/urinary system.
Disease Ontology:11 A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.
Genetics Home Reference:25 Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features.
NIH Rare Diseases:47 Gaucher disease type 1 (GD1) is the most common form of Gaucher disease. Like other types of Gaucher disease, GD1 is caused when not enough glucocerebrosidase (GBA) is made. GBA is an important enzyme that breaks down a fatty chemical called glucocerebroside. Because the body cannot break down this chemical, fat-filled Gaucher cells build up in areas like the spleen, liver and bone marrow. Unlike type 2 and 3, GD1 does not usually involve the brain and spinal cord (central nervous system). Symptoms of GD1 include enlarged spleen and liver, low blood cell counts, bleeding problems and bone disease. The symptoms can range from mild to severe and may appear anytime from childhood to adulthood. Gaucher disease is caused by changes (mutations) in the GBA gene and is inherited in an autosomal recessive manner. Diagnosis is suspected by clinical symptoms and confirmed by measuring GBA enzyme activity or genetic testing. Treatments may include enzyme replacement therapy or medications that affect the making of fatty molecules (substrate reduction therapy). Last updated: 12/9/2016
MedlinePlus:37 Gaucher disease is a rare, inherited disorder. it is a type of lipid metabolism disorder. if you have it, you do not have enough of an enzyme called glucocerebrosidase. this causes too much of a fatty substance to build up in your spleen, liver, lungs, bones and, sometimes, your brain. this prevents these organs from working properly. there are three types: type 1, the most common form, causes liver and spleen enlargement, bone pain and broken bones, and, sometimes, lung and kidney problems. it does not affect the brain. it can occur at any age. type 2, which causes severe brain damage, appears in infants. most children who have it die by age 2. in type 3, there may be liver and spleen enlargement. the brain is gradually affected. it usually starts in childhood or adolescence. gaucher disease has no cure. treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. there is no good treatment for the brain damage of types 2 and 3. nih: national institute of neurological disorders and stroke
NINDS:48 Gaucher disease is one of the inherited metabolic disorders known as lipid storage diseases.
UniProtKB/Swiss-Prot:69 Gaucher disease: A lysosomal storage disease due to deficient activity of beta- glucocerebrosidase and characterized by accumulation of glucosylceramide in the reticulo-endothelial system. Different clinical forms are recognized depending on the presence (neuronopathic forms) or absence of central nervous system involvement, severity and age of onset. Gaucher disease 1: A form of Gaucher disease characterized by hepatosplenomegaly with consequent anemia and thrombopenia, and bone involvement. The central nervous system is not involved.
Wikipedia:70 Gaucher\'s disease or Gaucher disease (/ɡoʊˈʃeɪ/) (GD) is a genetic disorder in which... more...
GeneReviews for NBK1269
Human phenotypes related to Gaucher Disease, Type I:63 53 (show all 104)
UMLS symptoms related to Gaucher Disease, Type I:hyperexplexia, hepatomegaly, muscle rigidity, muscle spasticity, seizures, dyspnea, bone pain
Drugs for Gaucher Disease, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 109)
Interventional clinical trials:(show top 50) (show all 101)
Search NIH Clinical Center for Gaucher Disease, Type I
MalaCards organs/tissues related to Gaucher Disease, Type I:35
Bone, Liver, Spleen, Bone marrow, Brain, Lung, Kidney
MGI Mouse Phenotypes related to Gaucher Disease, Type I:40
Articles related to Gaucher Disease, Type I:
UniProtKB/Swiss-Prot genetic disease variations for Gaucher Disease, Type I:69 (show all 143)
Clinvar genetic disease variations for Gaucher Disease, Type I:5 (show all 60)
Search GEO for disease gene expression data for Gaucher Disease, Type I.
Pathways related to Gaucher Disease, Type I according to GeneCards Suite gene sharing:
Cellular components related to Gaucher Disease, Type I according to GeneCards Suite gene sharing:
Biological processes related to Gaucher Disease, Type I according to GeneCards Suite gene sharing:(show all 11)
Molecular functions related to Gaucher Disease, Type I according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet