CTLA4 gene related symptoms and diseases

All the information presented here about the CTLA4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CTLA4 gene

Symptoms // Phenotype % Cases
Skin rash Uncommon - Between 30% and 50% cases
Alopecia Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Lymphadenopathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with CTLA4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Arthritis
  • Gangrene
  • Rarely - Less than 30% cases

  • Abnormal lymphocyte morphology
  • Skin ulcer
  • Vasculitis
  • Thrombocytopenia
  • Purpura
  • Glomerulonephritis

And 176 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CTLA4 gene

Here you will find a list of rare diseases related to the CTLA4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


GRANULOMATOSIS WITH POLYANGIITIS


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


More info about GRANULOMATOSIS WITH POLYANGIITIS

SOURCES: ORPHANET OMIM MESH

CLASSIC MYCOSIS FUNGOIDES


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


More info about CLASSIC MYCOSIS FUNGOIDES

SOURCES: MESH ORPHANET OMIM

DIABETES MELLITUS, INSULIN-DEPENDENT, 12; IDDM12


Alternate names

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


More info about DIABETES MELLITUS, INSULIN-DEPENDENT, 12; IDDM12

SOURCES: MESH OMIM

ORAL SUBMUCOUS FIBROSIS


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


More info about ORAL SUBMUCOUS FIBROSIS

SOURCES: MESH ORPHANET

SÉZARY SYNDROME


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


More info about SÉZARY SYNDROME

SOURCES: MESH ORPHANET

SYSTEMIC LUPUS ERYTHEMATOSUS


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


More info about SYSTEMIC LUPUS ERYTHEMATOSUS

SOURCES: OMIM ORPHANET

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME DUE TO CTLA4 HAPLOINSUFFIENCY


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


More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME DUE TO CTLA4 HAPLOINSUFFIENCY

SOURCES: OMIM ORPHANET

CELIAC DISEASE, SUSCEPTIBILITY TO, 3; CELIAC3


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


More info about CELIAC DISEASE, SUSCEPTIBILITY TO, 3; CELIAC3

SOURCES: OMIM

ADULT-ONSET MYASTHENIA GRAVIS


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).


More info about ADULT-ONSET MYASTHENIA GRAVIS

SOURCES: ORPHANET


Potential gene panels for CTLA4 gene

CTLA4 Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the CTLA4 gene.

More info about this panel

CTLA4 Deletion/duplication analysis Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the CTLA4 gene.

More info about this panel

Tier 2: Hereditary Lymphoma and Immunodeficiency Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Tier 2: Hereditary Lymphoma and Immunodeficiency Panel that also includes the following genes: BLM SH2D1A BRCA1 BRCA2 STXBP2 FAS CD27 FASLG WAS IKZF1

More info about this panel

Humoral dysfunction Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Humoral dysfunction Del/Dup Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 CD27 CD40LG UNG IKZF1 AICDA LRBA

More info about this panel

Humoral dysfunction Seq Analysis Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Humoral dysfunction Seq Analysis that also includes the following genes: SH2D1A BTK STAT1 STAT3 CD27 CD40LG UNG IKZF1 AICDA LRBA

More info about this panel

Humoral dysfunction Seq + Del/Dup Panel Panel

United States.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Humoral dysfunction Seq + Del/Dup Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 CD27 CD40LG UNG IKZF1 AICDA LRBA

More info about this panel

Autoimmune lymphoproliferative syndrome (sequence analysis of CTLA4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CTLA4 gene.

More info about this panel

Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection that also includes the following genes: SH2D1A STAT3 FAS FASLG CASP10 CASP8 LRBA CTLA4 MAGT1 FADD

More info about this panel

Lymphoproliferative syndrome, autoimmune, type 5 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the CTLA4 gene.

More info about this panel

Invitae Common Variable Immunodeficiency Panel Panel

United States.

By Invitae Invitae Common Variable Immunodeficiency Panel that also includes the following genes: STAT3 CD27 TNFSF12 LRBA TNFRSF13C TNFRSF13B CR2 CTLA4 ICOS IL21

More info about this panel

Invitae Monogenic Autoimmunity Panel Panel

United States.

By Invitae Invitae Monogenic Autoimmunity Panel that also includes the following genes: RMRP SH2D1A SLC7A7 BTK STAT1 STAT3 STAT5B STIM1 STX11 STXBP2

More info about this panel

Invitae Monogenic Inflammatory Bowel Disease Panel Panel

United States.

By Invitae Invitae Monogenic Inflammatory Bowel Disease Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 STIM1 STXBP2 CD40LG WAS ZAP70 AICDA

More info about this panel

Invitae Primary Immunodeficiency Panel Panel

United States.

By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2

More info about this panel

Invitae Autoimmune Lymphoproliferative Disorders (ALPS) Panel Panel

United States.

By Invitae Invitae Autoimmune Lymphoproliferative Disorders (ALPS) Panel that also includes the following genes: FAS FASLG CASP8 CTLA4 MAGT1 ITK PIK3CD PRKCD

More info about this panel

CTLA4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CTLA4 gene.

More info about this panel

Primary Immunodeficiency Panel Panel

Finland.

By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK

More info about this panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

United States.

By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1

More info about this panel

Immune Report Card Panel

United States.

By OmniSeq, Inc. Immune Report Card that also includes the following genes: CXCL10 STAT1 TBX21 TGFB1 TNF TNFRSF14 TNFRSF18 CD40 CD27 TNFRSF9

More info about this panel

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME NGS PANEL that also includes the following genes: SH2D1A STAT3 FAS FASLG CASP10 CASP8 CTLA4 MAGT1 FADD XIAP

More info about this panel

Autoimmune Lymphoproliferative Syndrome Type V, Sequencing CTLA4 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the CTLA4 gene.

More info about this panel

Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes Panel

Spain.

By Reference Laboratory Genetics Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes that also includes the following genes: CXCL12 SH2D1A BTK STAT1 STAT3 TGFB1 TNFRSF4 CD40 CD40LG AICDA

More info about this panel

Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes Panel

Spain.

By Reference Laboratory Genetics Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes that also includes the following genes: SH2D1A STXBP2 TERC TERT TGFB1 TINF2 CD40LG WAS WIPF1 CARD9

More info about this panel

Autosomic Autoimmune Lymphoproliferative Syndrome , Panel Massive Sequencing (NGS) 10 Genes Panel

Spain.

By Reference Laboratory Genetics Autosomic Autoimmune Lymphoproliferative Syndrome , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: FAS FASLG CASP10 CASP8 CTLA4 MAGT1 FADD ITK KRAS NRAS

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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