IFNG gene related symptoms and diseases

Alternate names

STEVENS-JOHNSON SYNDROME Is also known as dermatostomatitis, stevens johnson type

Description

Stevens-Johnson syndrome is a limited form of toxic epidermal necrolysis (see this term) characterized by destruction and detachment of the skin epithelium and mucous membranes involving less than 10% of the body surface area.

Most common symptoms of STEVENS-JOHNSON SYNDROME

• Anemia
• Visual impairment
• Fever
• Fatigue
• Dysphagia

SOURCES: MESH OMIM ORPHANET

Alternate names

ACUTE PROMYELOCYTIC LEUKEMIA Is also known as acute myeloid leukemia with t(15;17)(q22;q12);(pml/raralpha) and variants, acute myeloblastic leukemia 3, apml, aml m3, aml with t(15;17)(q22;q12);(pml/raralpha) and variants, leukemia, acute promyelocytic

Description

Acute promyelocytic leukemia (APL) is an aggressive form of acute myeloid leukemia (AML; see this term), characterized by arrest of leukocyte differentiation at the promyelocyte stage, due to a specific chromosomal translocation t(15;17) in myeloid cells. APL manifests with easy bruising, hemorrhagic diathesis and fatigue.

Most common symptoms of ACUTE PROMYELOCYTIC LEUKEMIA

• Leukemia
• Acute promyelocytic leukemia
• Abnormal granulocytopoietic cell morphology

SOURCES: OMIM ORPHANET MESH

Alternate names

TUBEROUS SCLEROSIS COMPLEX Is also known as tuberous sclerosis, bourneville syndrome

Description

Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features.

Most common symptoms of TUBEROUS SCLEROSIS COMPLEX

• Intellectual disability
• Seizures
• Global developmental delay
• Neoplasm
• Cognitive impairment

SOURCES: OMIM ORPHANET

Alternate names

ORAL SUBMUCOUS FIBROSIS Is also known as osmf

Description

Oral submucous fibrosis (OSMF) is a chronic, progressive disease that alters the fibroelasticity of the oral submucosa, prevalent in India and Southeast Asia but rare elsewhere, and characterized by burning and pain in the oral cavity, loss of gustatory sensation, the presence of blanched fibrous bands and stiffening of the oral mucosa and oro-pharynx (leading to trismus and a progressive reduction in mouth opening) and an increased risk of developing oral squamous cell cancer (3-19%). It is usually associated with the chewing of the areca nut (an ingredient in betel quid) but the exact etiology is unknown and there is currently no effective treatment.

Most common symptoms of ORAL SUBMUCOUS FIBROSIS

• Flexion contracture
• Narrow mouth
• Trismus
• Cheilitis
• Abnormality of the pharynx

SOURCES: MESH ORPHANET

Description

Mycobacterium tuberculosis latently infects approximately one-third of humanity and is comparable only to human immunodeficiency virus (HIV; see {609423}) as a leading infectious cause of mortality worldwide. Obstacles for controlling TB infection include lengthy treatment regimens of 6 to 9 months, drug resistance, lack of a highly efficacious vaccine, and incomplete understanding of the factors that control infectivity and disease progression. Although only 10% of individuals infected with M. tuberculosis develop active disease, the immune responses associated with TB susceptibility or resistance are not known. In addition, it is not known why some individuals have disseminated TB that spreads to the meninges and central nervous system, while most people have localized disease in the lungs. A number of studies suggest that host genetic factors influence susceptibility and resistance to TB (review by Berrington and Hawn, 2007).

Most common symptoms of MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO

• Pain
• Fever
• Fatigue
• Immunodeficiency
• Weight loss

SOURCES: OMIM MESH

Alternate names

IDIOPATHIC APLASTIC ANEMIA Is also known as idiopathic bone marrow failure

Description

Aplastic anemia is a serious disorder of the bone marrow that affects between 2 and 5 persons per million per year. About 75% of these cases are classified as idiopathic (Young, 2000). In about 15% of cases a drug or infection can be identified that precipitates the aplasia, although why only some individuals are susceptible is unclear. In about 5 to 10% of patients, the aplastic anemia is constitutional--i.e., is familial or presents with one or more associated somatic abnormalities (summary by Vulliamy et al., 2002).

Most common symptoms of IDIOPATHIC APLASTIC ANEMIA

• Anemia
• Bone marrow hypocellularity
• Aplastic anemia
• Hemophagocytosis

SOURCES: ORPHANET OMIM

Alternate names

HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO Is also known as hiv-1, susceptibility to

Description

The pathogenesis of HIV infection and the progression from infection to AIDS vary significantly between exposed individuals. Infection occurs after the virus, which has macrophage (M)- and T lymphocyte (T)-tropic strains and more than 12 subtypes, survives an array of nonspecific, nongenetic environmental and host factors.

SOURCES: OMIM

Alternate names

HEPATITIS C VIRUS, SUSCEPTIBILITY TO Is also known as hcv, susceptibility to

Description

HCV, which is principally transmitted by blood, infects about 3% of the world's population. HCV infection causes acute hepatitis, which is self-resolving in 20 to 50% of cases but does not confer permanent immunity. In 50 to 80% of cases, HCV infection becomes chronic and results in chronic hepatitis, cirrhosis, and hepatocellular carcinoma. As a result, HCV infection is a leading killer worldwide and the most common cause of liver failure in the U.S. HCV is opportunistic in individuals infected with human immunodeficiency virus (HIV; see {609423}), approximately 25% of whom are coinfected with HCV. HCV infection is also associated with cryoglobulinemia (see {123550}), a B-lymphocyte proliferative disorder (Pawlotsky, 2004; Chisari (2005); Pileri et al., 1998).

Most common symptoms of HEPATITIS C VIRUS, SUSCEPTIBILITY TO

• Immunodeficiency
• Carcinoma
• Cirrhosis
• Hepatic failure
• Hepatitis

SOURCES: OMIM