Gaucher's disease

Niemann-Pick disease, SMPD1-associated refers to two different types of Niemann-Pick disease which are associated with the SMPD1 gene

Wikipedia Page

http://en.wikipedia.org/wiki/Niemann-Pick_disease,_SMPD1-associated; http://en.wikipedia.org/wiki/Niemann–Pick_disease; http://en.wikipedia.org/wiki/Gaucher's_disease

Symptoms

▶ mental retardation; splenomegaly; bone pain; esophageal food bolus obstruction; short stature;  …

Hepatomegaly; hyperreflexia; hyperpigmentation; thrombocytopenia; pericarditis; Tooth eruption delayed; Collodion membrane; Platyspondyly; Cherry red spot on macula; seizure; Lymphadenopathy; rhabdomyolysis; Corneal opacity; hypertension; Fever of unknown origin; Abdominal pain; Chest pain; delayed puberty; hemoglobinuria; Anhidrosis; proteinuria; exanthem; Raynaud's phenomenon; Sensory neuropathy, peripheral; hemangioma; telangiectasia; retinopathy; priapism; Sensorineural hearing loss; male infertility

ICD Code

"272.7"

Named-for Thing of

Philippe Gaucher

Class

▶ genetic disorder, medical condition, X-linked inherited conditions, Autosomal recessive conditions, cause,  …

medical concept, disease

Cause of

▶ hypertension; osteoporosis; priapism; Cardiac arrhythmia; thrombocytopenia;  …

Abdominal pain; mental retardation; rhabdomyolysis; hemangioma; Lymphadenopathy; esophageal food bolus obstruction; Raynaud's phenomenon; Chest pain; pericarditis; chronic renal failure; telangiectasia; splenomegaly; proteinuria; left ventricular hypertrophy; mitral regurgitation; Hepatomegaly; hyperpigmentation; Hydrops fetalis; delayed puberty; retinopathy; Fanconi syndrome; Interstitial lung disease; hyperreflexia; hypertriglyceridemia; exanthem; pinguecula; male infertility; short stature; Anhidrosis; osteonecrosis of the jaw; Osteosclerosis; hemoglobinuria; bone pain; osteolysis; Fever of unknown origin; Angiokeratoma; seizure; restrictive cardiomyopathy; Leucoerythroblastic anaemia; Sphingolipidoses; Atrioventricular node conduction block; PR interval shortening; Sensorineural hearing loss; Sensory neuropathy, peripheral; Corneal opacity; Low density lipoprotein levels raised (serum or plasma); High density lipoprotein levels low (plasma or serum); Blood film abnormality; Cherry red spot on macula; Platyspondyly; Collodion membrane; Erlenmeyer flask deformity; Tooth eruption delayed; Acid phosphatase levels raised (plasma or serum); Angiotensin converting enzyme levels raised (plasma or serum)

Allelic with

Gaucher's disease, Niemann-Pick disease type B

See also

Alglucerase

Related Websites

▶ http://www.niemann-pick-c.com/, http://www.nnpdf.org, http://www.fabry.com.au, http://www.gaucher.org.uk, http://www.mpssociety.co.uk/index.php?page=fabry-disease,  …

http://www.fabry.org, http://www.fabrycommunity.com, http://www.lsdregistry.net/fabryregistry, http://ghr.nlm.nih.gov/condition=fabrydisease, http://www.ninds.nih.gov/disorders/fabrys/fabrys.htm, http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=fabry, http://www.hideandseek.org/, http://ghr.nlm.nih.gov/condition=niemannpickdisease, http://www.addiandcassi.com, http://www.ninds.nih.gov/disorders/niemann/niemann.htm, http://podcasts.mayoclinic.org/2008/07/11/niemann-pick-disease-type-c, http://www.clinicaltrials.gov/ct/show/NCT00344331?order=1/, http://www.nnpdf.ca/, http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=npc, http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=npab, http://www.niemannpick.org.uk, http://www.parseghian.org, http://www.sifap.de, http://www.TheNFDF.org, http://www.apmf-fabry.org, http://www.fabry.no, http://fabryintnetwork.com, http://www.fabrycanada.com, http://www.fabrycommunity.com/global/fc_p_hp_homepage.asp, http://www.fabry.org/FSIG.nsf/Pages2/HomePage, http://www.focusonfabry.com, http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=gaucher, http://www.hideandseek.org, http://www.childrensgaucher.org, http://www.gaucherdisease.org, http://www.gaucher.org.uk/ega/alliance.htm, http://www.gaucher.org.uk/index.htm

Freebase ID

"/guid/9202a8c04000641f80000000002b4090"

Diseases DB id

"9016", "4638", "5124"

Mesh ID

"D009542", "D000795", "D005776"

Diseaseome URI

http://www4.wiwiss.fu-berlin.de/diseasome/resource/diseases/438

DBPedia URI

http://dbpedia.org/resource/Gaucher%27s_disease

Rare Terms

▶ "type 2"; "gd"; "anemia, splenic, familial"; "acute cerebral gaucher's disease"; "cerebroside lipidosis syndrome";  …

"acid beta-glucosidase deficiency"; "gaucher disease type 3"; "gaucher disease type 2"; "gaucher disease type 1"; "gaucher disease"

Cause

Lactosylceramide, Glucosylsphingosine

Freebase Primary MID

"/m/02qj4j"