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1.

Hemophagocytic lymphohistiocytosis

A rare but potentially life-threatening disorder characterized by the proliferation of histiocytes and macrophages and phagocytosis of red blood cells, white blood cells, and platelets. It may be inherited or secondary, due to infections, autoimmune disorders, or underlying malignancies. Signs and symptoms include fever, lymphadenopathy, hepatomegaly, splenomegaly, and pancytopenia. [from NCI]

MedGen UID:
6158
Concept ID:
C0024291
Disease or Syndrome
2.

Primary immunodeficiency

MedGen UID:
833465
Concept ID:
CN197484
Finding
3.

Familial hemophagocytic lymphohistiocytosis

Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth. [from ORDO]

MedGen UID:
830907
Concept ID:
CN205265
Disease or Syndrome
4.

X-Linked Lymphoproliferative Syndrome

An X-linked immunodeficiency syndrome that exclusivesly affects males, although females can be carriers. The syndrome is characterized by life-threatening episodes of infectious mononucleosis, hypogammaglobulinemia, and subsequent development of lymphomas (usually B-cell lymphomas) and other lymphoproliferative disorders. [from NCI]

MedGen UID:
107498
Concept ID:
C0549463
Neoplastic Process
5.

Familial hemophagocytic lymphohistiocytosis

Familial hemophagocytic lymphohistiocytosis (FHL) is characterized by proliferation and infiltration of hyperactivated macrophages and T-lymphocytes manifesting as acute illness with prolonged fever, cytopenias, and hepatosplenomegaly. Onset is typically within the first months or years of life and, on occasion, in utero, although later childhood or adult onset is more common than previously suspected. Neurologic abnormalities may be present initially or may develop later; they may include increased intracranial pressure, irritability, neck stiffness, hypotonia, hypertonia, convulsions, cranial nerve palsies, ataxia, hemiplegia, quadriplegia, blindness, and coma. Rash and lymphadenopathy are less common. Other findings include liver dysfunction and bone marrow hemophagocytosis. The median survival of children with typical FHL, without treatment, is less than two months; progression of hemophagocytic lymphohistiocytosis and infection account for the majority of deaths in untreated individuals. [from GeneReviews]

MedGen UID:
78797
Concept ID:
C0272199
Pathologic Function
6.

X-linked inheritance

A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. [from HPO]

MedGen UID:
66838
Concept ID:
C0241764
Genetic Function
7.

Immunodeficiency

A deficiency of immune response or a disorder characterized by deficient immune response. [from NCI_FDA]

MedGen UID:
7034
Concept ID:
C0021051
Disease or Syndrome
8.

Lymphoproliferative disorder

A disease in which cells of the lymphatic system grow excessively. Lymphoproliferative disorders are often treated like cancer. [from NCI_NCI-GLOSS]

MedGen UID:
6162
Concept ID:
C0024314
Neoplastic Process
9.

Lymphoma

Lymphoma is a cancer of a part of the immune system called the lymph system. There are many types of lymphoma. One type is Hodgkin disease. The rest are called non-Hodgkin lymphomas. Non-Hodgkin lymphomas begin when a type of white blood cell, called a T cell or B cell, becomes abnormal. The cell divides again and again, making more and more abnormal cells. These abnormal cells can spread to almost any other part of the body. Most of the time, doctors don't know why a person gets non-Hodgkin lymphoma. You are at increased risk if you have a weakened immune system or have certain types of infections. Non-Hodgkin lymphoma can cause many symptoms, such as . -Swollen, painless lymph nodes in the neck, armpits or groin. -Unexplained weight loss . -Fever . -Soaking night sweats . -Coughing, trouble breathing or chest pain . -Weakness and tiredness that don't go away . -Pain, swelling or a feeling of fullness in the abdomen . Your doctor will diagnose lymphoma with a physical exam, blood tests, a chest x-ray, and a biopsy. Treatments include chemotherapy, radiation therapy, targeted therapy, biological therapy, or therapy to remove proteins from the blood. Targeted therapy uses substances that attack cancer cells without harming normal cells. Biologic therapy boosts your body's own ability to fight cancer. If you don't have symptoms, you may not need treatment right away. This is called watchful waiting. NIH: National Cancer Institute.  [from MedlinePlus]

MedGen UID:
44223
Concept ID:
C0024299
Neoplastic Process
10.

Protein Deficiency

A nutritional condition produced by a deficiency of proteins in the diet, characterized by adaptive enzyme changes in the liver, increase in amino acid synthetases, and diminution of urea formation, thus conserving nitrogen and reducing its loss in the urine. Growth, immune response, repair, and production of enzymes and hormones are all impaired in severe protein deficiency. Protein deficiency may also arise in the face of adequate protein intake if the protein is of poor quality (i.e., the content of one or more amino acids is inadequate and thus becomes the limiting factor in protein utilization). (From Merck Manual, 16th ed; Harrison's Principles of Internal Medicine, 12th ed, p406) [from MeSH]

MedGen UID:
18705
Concept ID:
C0033626
Disease or Syndrome
11.

Episodic

Applied to a sign, symptom, or other manifestation that occurs at least twice and potentially multiple times but separated by an interval in whichthe sign, symptom, or manifestation is not present. [from HPO]

MedGen UID:
910017
Concept ID:
CN240220
Organism Attribute
12.

Lymphoma

A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. [from HPO]

MedGen UID:
505322
Concept ID:
CN002422
Finding
13.

Autoimmune interstitial lung, joint, and kidney disease

Autoimmune interstitial lung, joint, and kidney disease is an autosomal dominant systemic autoimmune disorder characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease. Laboratory studies show high-titer autoantibodies. Symptoms appear in the first 2 decades of life, but there is incomplete penetrance (summary by Watkin et al., 2015). [from OMIM]

MedGen UID:
452265
Concept ID:
C0231330
Temporal Concept
14.

Protoporphyria, erythropoietic, X-linked

X-linked protoporphyria (XLP) is characterized in affected males by cutaneous photosensitivity (usually beginning in infancy or childhood) that results in tingling, burning, pain, and itching within minutes of sun/light exposure and may be accompanied by swelling and redness. Vesicular lesions are uncommon. Pain, which may seem out of proportion to the visible skin lesions, may persist for hours or days after the initial phototoxic reaction. Photosensitivity usually remains for life. Multiple episodes of acute photosensitivity may lead to chronic changes of sun-exposed skin (lichenification, leathery pseudovesicles, grooving around the lips) and loss of lunulae of the nails. An unknown proportion of individuals with XLP develop liver disease. Except for those with advanced liver disease, life expectancy is not reduced. The phenotype in heterozygous females ranges from asymptomatic to as severe as affected males. [from GeneReviews]

MedGen UID:
394385
Concept ID:
C2677889
Disease or Syndrome
15.

Unrelated

Not connected or associated e.g. by kinship. [from NCI]

MedGen UID:
99027
Concept ID:
C0445356
Finding
16.

Lymphatism

MedGen UID:
141817
Concept ID:
C0524631
Disease or Syndrome
17.

Solitary Reticulohistiocytoma

A rare cutaneous lesion composed of eosinophilic histiocytes, which are often multinucleated. The lesions are yellow-brown papules affecting any part of the body. Patients are usually adult men. The prognosis is excellent. -- 2003 [from NCI]

MedGen UID:
48431
Concept ID:
C0035290
Neoplastic Process
18.

Abnormality of the lymphatic system

The lymphatic system is a network of tissues and organs. It is made up of. -Lymph - a fluid that contains white blood cells that defend against germs. -Lymph vessels - vessels that carry lymph throughout your body. They are different from blood vessels. -Lymph nodes - glands found throughout the lymph vessels. Along with your spleen, these nodes are where white blood cells fight infection. Your bone marrow and thymus produce the cells in lymph. They are part of the system, too. The lymphatic system clears away infection and keeps your body fluids in balance. If it's not working properly, fluid builds in your tissues and causes swelling, called lymphedema. Other lymphatic system problems can include infections, blockage, and cancer.  [from MedlinePlus]

MedGen UID:
9829
Concept ID:
C0024228
Disease or Syndrome
19.

Histiocytosis, Non-Langerhans-Cell

Group of disorders which feature accumulations of active HISTIOCYTES and LYMPHOCYTES, but where the histiocytes are not LANGERHANS CELLS. The group includes HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; SINUS HISTIOCYTOSIS; xanthogranuloma; reticulohistiocytoma; JUVENILE XANTHOGRANULOMA; xanthoma disseminatum; as well as the lipid storage diseases (SEA-BLUE HISTIOCYTE SYNDROME; and NIEMANN-PICK DISEASES). [from MeSH]

MedGen UID:
9265
Concept ID:
C0019624
Disease or Syndrome
20.

Immunoproliferative Disorders

Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins. [from MeSH]

MedGen UID:
7038
Concept ID:
C0021070
Neoplastic Process
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