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43 Search Results for: gaucher disease


Rare Disease Information

NORD Rare Disease Database

Cholesteryl Ester Storage Disease

Summary Cholesteryl ester storage disease (CESD) is a type of lysosomal acid lipase (LAL) deficiency; a rare genetic disorder characterized by a deficiency of the...

Also known as: acid cholesteryl ester hydrolase deficiency, type 2, CESD, cholesterol ester hydrolase deficiency, LAL deficiency, CESD type

ASAH1-Related Disorders

ASAH1-related disorders are an extremely rare group of disorders caused by an alteration (mutation) in the ASAH1 gene. Alterations in this gene result in a deficiency of...

Also known as: acid ceramidase deficiency, Farber disease, Farber lipogranulomatosis
Subdivisions: spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME)

Gaucher Disease

Summary Gaucher disease is a rare, inherited metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of...

Also known as: cerebroside lipidosis syndrome, Gaucher splenomegaly, glucocerebrosidase deficiency, glucocerebrosidosis, glucosylceramidase deficiency, glucosyl cerebroside lipidosis, kerasin lipoidosis, kerasin thesaurismosis, lipid histiocytosis (kerasin type), sphingolipidosis 1
Subdivisions: Gaucher disease type 1, Gaucher disease type 2, Gaucher disease type 3, perinatal-lethal form, cardiovascular form

Lysosomal Storage Disorders

Lysosomal storage diseases are inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body's cells as a result of...

Niemann Pick Disease Type C

Summary Niemann-Pick disease type C (NPC) is a rare progressive genetic disorder characterized by an inability of the body to transport cholesterol and other fatty...

Also known as: NPC, NPD-C
Subdivisions: Niemann Pick disease type 1C, Niemann Pick disease type 2C

Osteonecrosis

Osteonecrosis, also known as avascular necrosis (AVN), aseptic necrosis or ischemic bone necrosis, is a disease resulting in the death of bone cells. If the process...

Also known as: aseptic necrosis, avascular necrosis of bone, ischemic necrosis of bone

Classic Infantile CLN1 Disease

Summary Classic infantile CLN1 disease is a rare genetic disorder with an onset of symptoms between 6 and 24 months of age. CLN1 disease is characterized by delays in...

Also known as: CLN1, INCL, Infantile Finnish type neuronal ceroid lipofuscinosis (Balkan disease), Infantile NCL, Infantile neuronal ceroid lipofuscinosis, Santavuori-Haltia Disease, Santavuori disease

Schindler disease

Schindler disease is a rare inherited metabolic disorder characterized by the deficient activity of the lysosomal enzyme alpha-N-acetylgalactosaminidase (alpha-NAGA or...

Also known as: Alpha-N-Acetylgalactosaminidase deficiency, NAGA deficiency, neuroaxonal dystrophy, Schindler type
Subdivisions: Kanzaki disease, Schindler disease Type I, Schindler disease Type II, Schindler disease Type III

Wolman Disease

Summary Wolman disease is a type of lysosomal acid lipase (LAL) deficiency; a rare genetic disorder characterized by complete absence of an enzyme known as lysosomal...

Also known as: acid cholesteryl ester hydrolase deficiency, Wolman type, lysosomal acid lipase deficiency, Wolman type, LAL deficiency, Wolman type
Subdivisions: No subdivisions found

Acid Sphingomyelinase Deficiency

Summary Acid sphingomyelinase deficiency (ASMD) is a rare progressive genetic disorder that results from a deficiency of the enzyme acid sphingomyelinase, which is...

Also known as: ASMD, ASM Deficiency, Acid Sphingomyelinase-deficient Niemann-Pick Disease, ASM-deficient Niemann-Pick Disease
Subdivisions: Niemann-Pick disease type A (NPD-A), Niemann-Pick disease type B (NPD-B)

NIH GARD Information

Gaucher disease type 1

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)...

Gaucher disease type 2

Gaucher disease type 2 is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs,...

Gaucher disease type 3

Gaucher ichthyosis restrictive dermopathy

Gaucher disease

Gaucher disease refers to a group of inherited metabolic diseases in which harmful amounts of fatty materials (lipids) accumulate in various cells and tissues in the...

Gaucher disease perinatal lethal

Atypical Gaucher disease due to saposin C deficiency

Gaucher disease – ophthalmoplegia – cardiovascular calcification


News & Blog Posts Results

Even "Well Known" Rare Diseases Pose Diagnosis Problems

Even though Gaucher disease is one of the better known rare diseases and diagnostic testing is available, some patients still go for 10 years or longer without getting an...

Announcing the 2015 Portraits of Courage Honorees

On May 19, on one of the rare disease community’s biggest nights, we will honor the patients, leaders and innovators who are moving the community forward at...

Impact of the Orphan Drug Tax Credit on Treatments for Rare Diseases

  Today, the National Organization for Rare Disorders (NORD), Biotechnology Industry Organization (BIO), and Ernst & Young released “Impact of the Orphan...

NORD Expands Rare Disease Video Library

Seven new videos have been added to the NORD Rare Disease Video Library, a unique educational resource launched earlier this summer. The library features videos on rare...

Rare Disease Day 2022 with actor Adam Rose

Welcome to Season Four of NORDpod, the voice of rare disease. Kicking off 2022, and in recognition of Rare Disease Day, we are proud to welcome actor and social media...


Organizations Results

National Gaucher Foundation

The National Gaucher Foundation (NGF) is a non-profit organization that supports medical research into causes of Gaucher disease. Gaucher disease is a rare metabolic...

Gauchers Association (UK)

The Gauchers Association is a non-profit support group dedicated to providing information and support to families in the United Kingdom, Ireland, and elsewhere whose...

Children's Gaucher Research Fund

The Children's Gaucher Research Fund (CGRF) is a 501(c)(3) non-profit organization that raises money for medical research aimed at finding a cure for Gaucher disease type...

Gaucher Community Alliance

Gaucher Community Alliances’s (GCA) mission is to help all those affected live their fullest life and alleviate some of the burden associated with this rare disorder...


Events Results

Gaucher disease - awareness campaign in Romania

Gaucher disease is a little known rare genetic disease. When the diagnosis is early and the treatment begins in time, the quality of life of these patients is radically...

"The Day of Orphan Diseases"

PROGRAMME OF THE EVENT On February 26, 2021, together with the movement of the orphan community "Orphan Bell" we will hold a meeting "The Day of Orphan Diseases" in the...

Inherited metabolic diseases:Rare but United in Arms!

The challenges facing patients with inherited metabolic diseases (IMDs) in Greece are many and formidable and are highlighted due to the impact of Covid-19. More than 20%...

Gaucher disease awareness lecture

Kurdistan rare disease center in cooperation with Sanofi Genzyme recognized international rare disease day by conducting a lecture about Gaucher disease awareness for our...


Physician Guides Results

Gaucher Disease

Welcome to the NORD Physician Guide to Gaucher Disease. The NORD Online Physician Guides are written for physicians by physicians with expertise on specific rare...