CTLA4 gene related symptoms and diseases

Alternate names

GRANULOMATOSIS WITH POLYANGIITIS Is also known as wegener granulomatosis, formerly, gpa, wg, formerly

Description

Granulomatosis with polyangiitis is a small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.

Most common symptoms of GRANULOMATOSIS WITH POLYANGIITIS

• Seizures
• Hearing impairment
• Sensorineural hearing impairment
• Pain
• Visual impairment

SOURCES: ORPHANET OMIM MESH

Alternate names

CLASSIC MYCOSIS FUNGOIDES Is also known as mycosis fungoides, alibert-bazin type

Description

Classical mycosis fungoides is the most common type of mycosis fungoides (MF; see this term), a form of cutaneous T-cell lymphoma, and is characterized by slow progression from patches to more infiltrated plaques and eventually to tumors.

Most common symptoms of CLASSIC MYCOSIS FUNGOIDES

• Hepatomegaly
• Edema
• Splenomegaly
• Alopecia
• Hyperkeratosis

SOURCES: MESH ORPHANET OMIM

Alternate names

DIABETES MELLITUS, INSULIN-DEPENDENT, 12; IDDM12 Is also known as insulin-dependent diabetes mellitus 12

SOURCES: MESH OMIM

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

Alternate names

SÉZARY SYNDROME Is also known as sÉzary lymphoma

Description

Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).

Most common symptoms of SÉZARY SYNDROME

• Neoplasm
• Abnormal facial shape
• Peripheral neuropathy
• Hepatomegaly
• Fever

SOURCES: MESH ORPHANET

Alternate names

SYSTEMIC LUPUS ERYTHEMATOSUS Is also known as disseminated lupus erythematosus, sle

Description

Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus ErythematosusAn autosomal recessive form of systemic lupus erythematosus (SLEB16 ) is caused by mutation in the DNASE1L3 gene (OMIM ) on chromosome 3p14.3.See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.

Most common symptoms of SYSTEMIC LUPUS ERYTHEMATOSUS

• Seizures
• Short stature
• Cognitive impairment
• Anemia
• Fatigue

SOURCES: OMIM ORPHANET

Alternate names

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME DUE TO CTLA4 HAPLOINSUFFIENCY Is also known as alps due to ctla4 haploinsuffiency, chai, ctla4 haploinsufficiency with autoimmune infiltration, ctla-4 haploinsufficiency with autoimmune infiltration disease

Description

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency is a rare, primary immunodeficiency characterized by variable combination of enteropathy, hypogammaglobulinemia, recurrent respiratory infections, granulomatous lymphocytic interstitial lung disease, lymphocytic infiltration of non-lymphoid organs (intestine, lung, brain, bone marrow, kidney), autoimmune thrombocytopenia or neutropenia, autoimmune hemolytic anemia and lymphadenopathy.

Most common symptoms of AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME DUE TO CTLA4 HAPLOINSUFFIENCY

• Hepatomegaly
• Diarrhea
• Splenomegaly
• Immunodeficiency
• Recurrent infections

SOURCES: OMIM ORPHANET

Alternate names

CELIAC DISEASE, SUSCEPTIBILITY TO, 3; CELIAC3 Is also known as gluten-sensitive enteropathy, susceptibility to, 3

Description

Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy, is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002).For additional information and a discussion of genetic heterogeneity of celiac disease, see {212750}.

Most common symptoms of CELIAC DISEASE, SUSCEPTIBILITY TO, 3; CELIAC3

• Malabsorption
• Abnormal intestine morphology
• Celiac disease

SOURCES: OMIM

Alternate names

ADULT-ONSET MYASTHENIA GRAVIS Is also known as adult-onset acquired myasthenia, adult-onset autoimmune myasthenia gravis

Description

Acquired myasthenia gravis (MG) is an autoimmune disorder of the neuromuscular junction characterized by fatigable muscle weakness with frequent ocular signs and/or generalized muscle weakness, and occasionally associated with thymoma (see this term).

SOURCES: ORPHANET