Autoimmunity, and Colitis

Diseases related with Autoimmunity and Colitis

In the following list you will find some of the most common rare diseases related to Autoimmunity and Colitis that can help you solving undiagnosed cases.


Top matches:

Low match AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6; AIS6


Related symptoms:

  • Arthritis
  • Systemic lupus erythematosus
  • Rheumatoid arthritis
  • Colitis
  • Ulcerative colitis


SOURCES: OMIM MENDELIAN

More info about AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6; AIS6

Low match AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2


Related symptoms:

  • Recurrent infections
  • Hypothyroidism
  • Proteinuria
  • Autoimmunity
  • Nephrotic syndrome


SOURCES: OMIM MENDELIAN

More info about AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2; ADMIO2

Low match IMMUNODEFICIENCY DUE TO MASP-2 DEFICIENCY


Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic.

IMMUNODEFICIENCY DUE TO MASP-2 DEFICIENCY Is also known as lectin complement activation pathway, defect in, 2|lcapd2

Related symptoms:

  • Pneumonia
  • Myalgia
  • Erythema
  • Autoimmunity
  • Sepsis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about IMMUNODEFICIENCY DUE TO MASP-2 DEFICIENCY

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Other less relevant matches:

Low match HEREDITARY PEDIATRIC BEHÇET-LIKE DISEASE


Familial Behcet-like autoinflammatory syndrome is an autosomal dominant disorder characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas. Additional more variable features include skin rash, uveitis, and polyarthritis. Symptoms become apparent in the first or second decades. The disorder results from inappropriate activation of inflammatory cytokines; treatment with tumor necrosis factor (TNF ) inhibitors may be beneficial (summary by Zhou et al., 2016).

HEREDITARY PEDIATRIC BEHÇET-LIKE DISEASE Is also known as behÇet-like disease due to haploinsufficiency of a20|behÇet-like disease due to ha20

Related symptoms:

  • Neoplasm
  • Anemia
  • Thrombocytopenia
  • Skin rash
  • Hemolytic anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY PEDIATRIC BEHÇET-LIKE DISEASE

Low match STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE


Infantile-onset multisystem autoimmune disease-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by Flanagan et al., 2014 and Milner et al., 2015). Genetic Heterogeneity of Infantile-Onset Multisystem Autoimmune DiseaseSee also ADMIO2 (OMIM ), caused by mutation in the ZAP70 gene (OMIM ) on chromosome 2q12.

Related symptoms:

  • Short stature
  • Pain
  • Anemia
  • Abnormality of the dentition
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about STAT3-RELATED EARLY-ONSET MULTISYSTEM AUTOIMMUNE DISEASE

Low match COMBINED IMMUNODEFICIENCY DUE TO CD3GAMMA DEFICIENCY


Combined immunodeficiency due to CD3gamma deficiency is an extremely rare genetic combined primary immunodeficiency characterized by a selective partial lymphopenia (T+/-B+NK+) phenotype and decreased CD3 complex resulting in a variable but usually mild clinical presentation ranging from asymptomatic until adulthood to high susceptibility to infections from early infancy with predominant automimmune manifestations.

COMBINED IMMUNODEFICIENCY DUE TO CD3GAMMA DEFICIENCY Is also known as scid-like immunodeficiency, t cell-partial, b cell-positive, nk cell-positive|cd3-gamma deficiency

Related symptoms:

  • Failure to thrive
  • Anemia
  • Immunodeficiency
  • Recurrent infections
  • Recurrent respiratory infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO CD3GAMMA DEFICIENCY

Low match PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE; PLTEID


PLTEID is an autosomal recessive immune-mediated inflammatory disease with highly variable manifestations. More severely affected individuals have recurrent infections, vasculitis, and thrombocytopenia, whereas other patients have mild vasculitis and normal numbers of small platelets without severe infections. Laboratory studies show platelets with abnormal shape, decreased dense granules, and impaired spreading ability, as well as immune dysregulation with increased eosinophils, B cells, IgA and IgE, and autoantibodies (summary by Kahr et al., 2017).

Related symptoms:

  • Failure to thrive
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia
  • Pneumonia


SOURCES: OMIM MENDELIAN

More info about PLATELET ABNORMALITIES WITH EOSINOPHILIA AND IMMUNE-MEDIATED INFLAMMATORY DISEASE; PLTEID

Low match IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12


Common variable immunodeficiency-12 is an autosomal dominant primary immunodeficiency characterized by recurrent infections, mainly respiratory, associated with hypogammaglobulinemia. The disorder shows a highly variable age at onset and highly variable disease severity, even within the same family. Some patients have features of autoimmunity (summary by Fliegauf et al., 2015).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12 Is also known as nfkb1 deficiency

Related symptoms:

  • Anemia
  • Immunodeficiency
  • Recurrent infections
  • Thrombocytopenia
  • Alopecia


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12

Low match COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY


Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY Is also known as cid due to lrba deficiency

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Diarrhea


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY

Low match PRIMARY SCLEROSING CHOLANGITIS


Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.

PRIMARY SCLEROSING CHOLANGITIS Is also known as psc

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fever
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY SCLEROSING CHOLANGITIS

Top 5 symptoms//phenotypes associated to Autoimmunity and Colitis

Symptoms // Phenotype % cases
Inflammation of the large intestine Common - Between 50% and 80% cases
Recurrent infections Common - Between 50% and 80% cases
Anemia Uncommon - Between 30% and 50% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Hemolytic anemia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Colitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Immunodeficiency Pneumonia Lymphopenia Autoimmune hemolytic anemia Type I diabetes mellitus Autoimmune thrombocytopenia Abnormal intestine morphology Decreased antibody level in blood Lymphadenopathy Hepatosplenomegaly Arthritis Recurrent respiratory infections Failure to thrive Ulcerative colitis Hypothyroidism

Rare Symptoms - Less than 30% cases


Interstitial pulmonary abnormality Eczema Diabetes mellitus Splenomegaly Respiratory tract infection Celiac disease Neutropenia Congestive heart failure Inflammatory abnormality of the skin Combined immunodeficiency Recurrent otitis media IgA deficiency Systemic lupus erythematosus Lymphoma Immune dysregulation Asthma Interstitial pneumonitis Abnormal lung morphology Chronic obstructive pulmonary disease Antinuclear antibody positivity Pain Vasculitis Neoplasm Skin rash Uveitis Recurrent systemic pyogenic infections Weight loss Osteopenia Prolonged prothrombin time Dilated superficial abdominal veins Elevated hepatic transaminase Neoplasm of the gallbladder Abnormal large intestine physiology Spider hemangioma Abnormality of the liver Scarring Pruritus Jaundice Osteoporosis Abdominal pain Ascites Encephalopathy Depressivity Renal insufficiency Fatigue Fever Hepatomegaly Hypertension Burkitt lymphoma Follicular hyperplasia Generalized lymphadenopathy Gastritis IgM deficiency Cirrhosis Hepatic fibrosis Polyclonal elevation of IgM Hepatocellular carcinoma Histiocytosis Cholangitis Vitamin D deficiency Abnormal eosinophil morphology Cholestatic liver disease Acute hepatic failure Sclerosing cholangitis Vitamin E deficiency Cholangiocarcinoma Verrucae Vitamin A deficiency Vitamin K deficiency Thyroiditis Hepatitis Amyloidosis Abnormality of the thyroid gland Chronic hepatic failure Generalized amyotrophy Abnormal biliary tract morphology Palmar telangiectasia Pleural effusion Portal hypertension Cholelithiasis Hypoalbuminemia Pancreatitis Elevated alkaline phosphatase of hepatic origin Cholestasis Cor pulmonale Recurrent skin infections Brain neoplasm Polyarticular arthritis Malabsorption Primary hypothyroidism Recurrent ear infections Atopic dermatitis Scleroderma Delayed puberty Leukemia Arthralgia Abnormality of the dentition Short stature Genital ulcers Lupus anticoagulant Anterior uveitis Decrease in T cell count Oral ulcer Episodic fever Complement deficiency Recurrent pneumonia Sepsis Erythema Myalgia Minimal change glomerulonephritis B lymphocytopenia Nephrotic syndrome Proteinuria Juvenile rheumatoid arthritis Rheumatoid arthritis Severe combined immunodeficiency Bronchiolitis Villous atrophy Otitis media Clubbing of fingers Chronic lung disease Exocrine pancreatic insufficiency Fatigable weakness Recurrent sinusitis Clubbing Recurrent upper respiratory tract infections Purpura Conjunctivitis Chronic diarrhea Bronchiectasis Pancytopenia Respiratory failure Bronchiolitis obliterans Diarrhea Growth delay Dysgammaglobulinemia Recurrent sinopulmonary infections Alopecia Cervical lymphadenopathy Decreased mean platelet volume Lymphocytosis Abnormal thrombocyte morphology Elevated erythrocyte sedimentation rate Eosinophilia Recurrent gastroenteritis Decreased proportion of CD8-positive T cells Adenocarcinoma of the large intestine



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Dolichocephaly, related diseases and genetic alterations

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