People in this group usually bruise easily due to low blood platelets and experience fatigue due to anemia They also may have an enlarged liver and spleen.
[ninds.nih.gov]
[britannica.com] Enlargement of the Liver Type 1 Gaucher disease (GD1) is characterized by thrombocytopenia, anemia, an enlarged spleen, and liver as well as bone complications
[symptoma.com]
Type 1 Gaucher disease (GD1) is characterized by thrombocytopenia, anemia, an enlarged spleen, and liver as well as bone complications (Erlenmeyer flask deformity, osteoporosis
[ncbi.nlm.nih.gov]
The disease primarily affects the: liver spleen brain bone marrow This leads to enlargement of the spleen and neurologic problems.
[healthline.com]
liver or spleen.
[healthline.com]
The signs and symptoms of type B may include: swelling of the abdomen from enlargement of the liver and spleen, which often begins in early childhood respiratory infections
[healthline.com]
Patients with MPS 7 may have abnormal coarsened facial features, enlargement of the liver and spleen, airway obstruction, lung disease, cardiovascular complications, joint
[ultragenyx.com]
Additional findings include short stature, heart abnormalities, breathing irregularities, liver and spleen enlargement (hepatosplenomegaly), and/or neurological abnormalities
[rarediseases.org]
Although the clinical features of the disease are mainly neurological, patients may also develop diarrhea, carious teeth, and an enlarged liver and spleen.
[checkorphan.org]
Additional findings include short stature, heart abnormalities, breathing irregularities, liver and spleen enlargement (hepatosplenomegaly), and/or neurological abnormalities
[rarediseases.org]
Enlargement of the liver and spleen.
[rarediseases.org]
Affected individuals may develop coarse facial features, joint stiffness, short stature, clouding of the corneas, abnormally enlarged liver and/spleen (hepatosplenomegaly)
[rarediseases.org]
[…] nodes; stage II, lymphocytosis with enlarged spleen or liver or both; stage III, lymphocytosis with anemia; and stage IV:lymphocytosis with thrombocytopenia.
[ncbi.nlm.nih.gov]
The symptoms of this infection range from a silent infection to fever, enlargement of the liver and spleen, weight loss, and pancytopenia.
[ncbi.nlm.nih.gov]
Chronic lymphoblastic leukemias (CLL) often cause an enlargement of the liver and spleen.
[youtube.com]
[…] of the liver and spleen and decreased range of motion and mobility.
[efpia.eu]
Symptoms include dwarfism, severe bone disease, including facial deformity, degenerative joint disease, enlarged liver and eye cloudiness.
[vetgen.com]
Additional findings include short stature, heart abnormalities, breathing irregularities, liver and spleen enlargement (hepatosplenomegaly), and/or neurological abnormalities
[rarediseases.org]
[…] of the liver and spleen with jaundice, to stillbirth or neonatal/infant death.
[ideas.health.vic.gov.au]
[…] spleen and liver, jaundice, and a rash caused by bleeding underneath the skin.
[babycenter.com]
The following potential problems can occur for infants who are infected from their mothers before birth (during pregnancy): Moderate enlargement of the liver and spleen, small
[americanpregnancy.org]
Children can also develop periorbital edema (swelling around the eye sockets), and edema (clubbing) of finger and/or toes, and gradual enlargement of the liver, along with
[autoinflammatory.org]
There may be abnormal breakdown of fats with loss of weight, excessive levels of fats in the blood, raised blood sugar levels, enlargement of the liver and abnormal thyroid
[medical-dictionary.thefreedictionary.com]
This condition results in enlargement of the liver and kidneys.
[epainassist.com]
[counsyl.com] Insoluble calcium deposits in other body tissues can lead to bone pain; vision loss; tingling, numbness, or pain in the extremities; enlargement of the liver
[symptoma.com]
Insoluble calcium deposits in other body tissues can lead to bone pain; vision loss; tingling, numbness, or pain in the extremities; enlargement of the liver and spleen; and
[myriadwomenshealth.com]
[…] spleen or liver skin problems, including livedo reticularis, rash, necrosis, and gangrene of the hands and feet Primary hyperoxaluria is a rare genetic disorder that can
[healthline.com]
[counsyl.com] Insoluble calcium deposits in other body tissues can lead to bone pain; vision loss; tingling, numbness, or pain in the extremities; enlargement of the liver
[symptoma.com]
Insoluble calcium deposits in other body tissues can lead to bone pain; vision loss; tingling, numbness, or pain in the extremities; enlargement of the liver and spleen; and
[myriadwomenshealth.com]
[…] spleen or liver skin problems, including livedo reticularis, rash, necrosis, and gangrene of the hands and feet Primary hyperoxaluria is a rare genetic disorder that can
[healthline.com]
[counsyl.com] Insoluble calcium deposits in other body tissues can lead to bone pain; vision loss; tingling, numbness, or pain in the extremities; enlargement of the liver
[symptoma.com]
Insoluble calcium deposits in other body tissues can lead to bone pain; vision loss; tingling, numbness, or pain in the extremities; enlargement of the liver and spleen; and
[myriadwomenshealth.com]
This can lead to bone pain; vision loss; tingling, numbness, or pain in the extremities; enlargement of the liver and spleen; and problems with the electrical system of the
[nxgenmdx.com]
This can lead to bone pain; vision loss; tingling, numbness, or pain in the extremities; enlargement of the liver and spleen; and problems with the electrical system of the
[counsyl.com]
Insoluble calcium deposits in other body tissues can lead to bone pain; vision loss; tingling, numbness, or pain in the extremities; enlargement of the liver and spleen; and
[myriadwomenshealth.com]
Excess bile salts are stored in the liver cells and leak into the bloodstream, resulting in severe itching, jaundice, and an enlarged liver.
[sema4genomics.com]
[…] of the liver and spleen that is not normal Fatigue (tired all of the time) Poor feeding, upset belly, and throwing up Problems that may arise include: Problems absorbing
[cincinnatichildrens.org]
Liver disease related symptoms and consequences include: pruritus (severe itching) jaundice (yellowing of skin and whites of eyes) fatigue enlarged liver or spleen cirrhosis
[liver.ca]
Other symptoms may include an enlarged spleen or liver, fever, weight loss, sweating and chills, and fatigue.
[nfcr.org]
Hepatosplenomegaly: the enlargement of both the liver and spleen caused by the same disease.
[slideshare.net]
Symptoms Painless local or disseminated lymph node enlargement, swelling of liver and spleen, unexplained fever, and diffuse itch.
[symptoma.com]
Additionally, congenital generalized lipodystrophy causes an abnormal buildup of fats in the liver (hepatic steatosis), which can result in an enlarged liver (hepatomegaly
[ghr.nlm.nih.gov]
Consequently, affected individuals may develop abnormal enlargement of the muscles (muscular hypertrophy) or the liver (hepatomegaly).
[rarediseases.org]
Infants usually develop an enlarged liver. Young kids have problems controlling their blood sugar and triglyceride levels.
[webmd.com]
This progressive disorder results in bone marrow scarring, leading to severe anemia and enlargement of your liver and spleen.
[mayoclinic.org]
If a patient shows up with enlarged spleen or liver which means that you have blood production taking place outside the bone marrow, treatment is a very good idea.
[medlink.com]
[…] puberty Bone thinning from osteoporosis Increased mouth ulcers and infection Type II - Pompe's Disease Enlarged liver and heart In severe cases, muscle weakness and heart
[chp.edu]
The symptoms of disease in the liver group are similar, ranging from symptomatic hypoglycemia and ketoacidosis to largely asymptomatic enlargement of the liver (hepatomegaly
[britannica.com]
Other types manifest enlarged spleen and liver as well progression to liver cirrhosis in adults and growth retardation in children.
[mazornet.com]
The disease primarily affects the: liver spleen brain bone marrow This leads to enlargement of the spleen and neurologic problems.
[healthline.com]
A patient may also have skin discoloration and enlarged liver, spleen and lymph nodes.
[cedars-sinai.edu]
liver or spleen.
[healthline.com]
As indicated, enlargement of the liver is characteristic in all Gaucher disease patients. In severe cases the liver can fill the entire abdomen.
[themedicalbiochemistrypage.org]
Apart from splenic and liver enlargement, infants with type 2 Gaucher disease suffer extensive and progressive brain damage.
[www1.actelion.com.au]
Symptoms may include: enlarged spleen and liver liver malfunction skeletal disorders and bone lesions that may be painful neurologic complications swelling of lymph nodes
[eurogaucher.org]
The main features of Niemann-Pick disease type B (NPD-B) are enlargement of the liver and spleen, and mild pulmonary involvement.
[ncbi.nlm.nih.gov]
Failure to break down sphingomyelin causes an accumulation and enlargement of the liver and spleen.
[npuk.org]
The disease primarily affects the: liver spleen brain bone marrow This leads to enlargement of the spleen and neurologic problems.
[healthline.com]
Growth rate may be slowed, and enlargement of the liver may occur because of an excess accumulation of glycogen.
[rarediseases.org]
This accounts for the enlarged liver and swollen abdomen and produces symptoms of low blood sugar.
[agsd.org.uk]
The symptoms of disease in the liver group are similar, ranging from symptomatic hypoglycemia and ketoacidosis to largely asymptomatic enlargement of the liver (hepatomegaly
[britannica.com]
It can cause swollen lymph nodes, and an enlarged spleen and liver. Children who have it may grow more slowly than normal.
[webmd.com]
[…] glands, enlarged spleen and liver, tachycardia, the dreaded sore throat and swallowing problems, episodes of Pericarditis and then the funky bloodwork.
[stillslife.wordpress.com]
Predominantly extra-articular manifestations like high fevers, rheumatic rash, enlargement of the liver and spleen, enlargement of the lymph nodes, and anemia.
[en.wikipedia.org]
[…] spleen and liver.[1][2] Schnitzler syndrome is considered an autoinflammatory disorder and is generally treated with anakinra, which inhibits interleukin 1.
[en.wikipedia.org]
[…] spleen and liver. [1] Schnitzler syndrome is considered an autoinflammatory disorder and is generally treated with anakinra, which inhibits interleukin 1.
[en.wikipedia.org]
[…] age of chronic hives (urticaria) and periodic fever, bone pain and joint pain (sometimes with joint inflammation), weight loss, malaise, fatigue, swollen lymph glands and enlarged
[en.wikipedia.org]
Symptoms appear in early childhood and include dangerously low blood sugar (hypoglycemia), delayed development, recurrent infection, and enlargement of the liver, spleen,
[geneticdiseasefoundation.org]
[…] of the liver, heart, or striated muscle, including the … Medical dictionary syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting
[medicine.academic.ru]
[…] puberty Bone thinning from osteoporosis Increased mouth ulcers and infection Type II - Pompe's Disease Enlarged liver and heart In severe cases, muscle weakness and heart
[chp.edu]
Symptoms and signs depend upon the exact type but can include enlargement of the liver (hepatomegaly), hypoglycemia, and muscle weakness or cramps eventually accompanied by
[medicinenet.com]
[…] bowel disease GSD II (Pompe disease) All organs Enlarged liver and heart and muscle weakness GSD III (Cori disease, Forbes disease) Liver, muscle, and heart Enlarged liver
[msdmanuals.com]
The conditions may affect the liver or the skeletal (striated) muscle, both primary glycogen storage sites.
[medicinenet.com]
After splenectomy, some patients can experience enlargement of the liver and a great increase in platelet count.
[epainassist.com]
The result is extensive scarring in your bone marrow, leading to severe anemia, weakness, fatigue, and often, an enlarged spleen and liver.''
[cmleukemia.com]
This results in massive scarring in the bone marrow leading to severe anemia, fatigue, weakness and usually an enlarged liver and spleen.
[epainassist.com]
In babies, the liver may be enlarged and lab studies to look at liver function may be abnormal.
[thinkgenetic.com]
As they get older, children with this condition typically develop an enlarged liver (hepatomegaly).
[ghr.nlm.nih.gov]
[…] puberty Bone thinning from osteoporosis Increased mouth ulcers and infection Type II - Pompe's Disease Enlarged liver and heart In severe cases, muscle weakness and heart
[chp.edu]
The symptoms of disease in the liver group are similar, ranging from symptomatic hypoglycemia and ketoacidosis to largely asymptomatic enlargement of the liver (hepatomegaly
[britannica.com]
The disorder is characterized by bruising, fatigue, anemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the
[checkrare.com]
Disorders affecting the liver lead to liver enlargement and can be associated with a tendency to low blood sugar.
[patient.info]
Physical examination revealed enlarged liver. Unenhanced abdominal CT showed enlargement of the liver with diffuse hypodensity.
[ncbi.nlm.nih.gov]
[…] of the liver with diffuse hypodensity.
[journals.lww.com]
The ultrasound examination revealed multiple hypoechoic liver lesions coexisting with an enlarged liver.
[em-consulte.com]
Polycystic liver disease can result in massive enlargement of the liver with resultant debilitating symptoms of abdominal pain, chronic fatigue, and severely compromised functional
[ncbi.nlm.nih.gov]
Magnetic resonance imaging and computed tomography showed bilateral enlarged polycystic kidneys and a massive polycystic liver (Fig. 1 ).
[karger.com]
Ultrasound and CT scan of the abdomen showed a massively enlarged liver with hundreds of cysts and displacement of the right kidney. There were no cysts in the kidneys.
[ncbi.nlm.nih.gov]
