Arthritis, and Inflammation of the large intestine

Diseases related with Arthritis and Inflammation of the large intestine

In the following list you will find some of the most common rare diseases related to Arthritis and Inflammation of the large intestine 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 AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; AGM7


AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; AGM7 Is also known as agammaglobulinemia, autosomal recessive, due to pik3r1 defect

Related symptoms:

  • Pneumonia
  • Recurrent respiratory infections
  • Arthritis
  • Erythema
  • Neutropenia


SOURCES: OMIM MENDELIAN

More info about AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE; AGM7

Low match IMMUNODEFICIENCY 57; IMD57


Related symptoms:

  • Failure to thrive
  • Vomiting
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 57; IMD57

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Other less relevant matches:

Low match SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1


Spondyloarthropathy (SpA), one of the commonest chronic rheumatic diseases, includes a spectrum of related disorders comprising the prototype ankylosing spondylitis (AS), a subset of psoriatic arthritis (PsA), reactive arthritis (ReA), arthritis associated with inflammatory bowel disease, and undifferentiated spondyloarthropathy (Miceli-Richard et al., 2004). These phenotypes are difficult to differentiate because they may occur simultaneously or sequentially in the same patient. Studies have suggested that a predominant shared component, including HLA-B27, predisposes to all phenotypic subsets, and that these subsets should be considered as various phenotypic expressions of the same disease (Said-Nahal et al., 2000, Said-Nahal et al., 2001).Braun and Sieper (2007) provided a detailed review of ankylosing spondylitis, including clinical features, pathogenesis, and management. Genetic Heterogeneity of Susceptibility to SpondyloarthropathyAdditional susceptibility loci for spondyloarthropathy have been identified on chromosome 9q31-q34 (SPDA2 ) and chromosome 2q36 (SPDA3 ).

SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1 Is also known as ankylosing spondylitis, susceptibility to|marie-strumpell spondylitis|bechterew syndrome

Related symptoms:

  • Pain
  • Kyphosis
  • Arrhythmia
  • Photophobia
  • Arthritis


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1

Low match IMMUNODEFICIENCY 36; IMD36


IMD36 is a primary immunodeficiency with a highly heterogeneous clinical phenotype, characterized primarily by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency. Other features include growth retardation, mild neurodevelopmental delay, and autoimmunity. The major complication is development of B-cell lymphoma (Elkaim et al., 2016).

Related symptoms:

  • Growth delay
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Recurrent respiratory infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 36; IMD36

Low match PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME


Autoinflammation with infantile enterocolitis is an autosomal dominant disorder characterized by onset of recurrent flares of autoinflammation in early infancy. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy associated with laboratory evidence of activated inflammation. This initial presentation is followed by recurrent febrile episodes with splenomegaly and sometimes hematologic disturbances, arthralgias, or myalgias. The disorder results from overactivation of an arm of the immune response system (Romberg et al., 2014; Canna et al., 2014).

PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME Is also known as nlrc4-related macrophage activation syndrome|nlrc4-related infantile enterocolitis-autoinflammatory syndrome|nlrc4-related autoinflammatory syndrome with macrophage activation syndrome|nlrc4-related mas|nlrc4-related autoinflammatory syndrome with mas

Related symptoms:

  • Seizures
  • Short stature
  • Failure to thrive
  • Pain
  • Anemia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PERIODIC FEVER-INFANTILE ENTEROCOLITIS-AUTOINFLAMMATORY SYNDROME

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 GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB


Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term).

GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB Is also known as glycogenosis due to glucose-6-phosphatase transport defect type ib|gsd type ib|glycogenosis due to glucose-6-phosphatase deficiency type 1b|glycogen storage disease type ib|gsd due to g6p deficiency type ib|glycogen storage disease due to g6p deficiency t

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLUCOSE-6-PHOSPHATASE DEFICIENCY TYPE IB

Low match FAMILIAL MEDITERRANEAN FEVER


Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.

FAMILIAL MEDITERRANEAN FEVER Is also known as benign paroxysmal peritonitis|familial paroxysmal polyserositis|benign recurrent polyserositis|polyserositis, familial paroxysmal|fmf|periodic disease|familial mediterranean fever, autosomal recessive|polyserositis, recurrent

Related symptoms:

  • Seizures
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MEDITERRANEAN FEVER

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

Top 5 symptoms//phenotypes associated to Arthritis and Inflammation of the large intestine

Symptoms // Phenotype % cases
Diarrhea Uncommon - Between 30% and 50% cases
Decreased antibody level in blood Uncommon - Between 30% and 50% cases
Lymphadenopathy Uncommon - Between 30% and 50% cases
Lymphopenia Uncommon - Between 30% and 50% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Inflammation of the large intestine. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Recurrent respiratory infections Splenomegaly Neutropenia Recurrent infections Colitis Anemia Immunodeficiency Pain Short stature Arthralgia Bronchiectasis Respiratory tract infection Autoimmunity Growth delay Seizures Abnormal lung morphology Skin rash Pneumonia Failure to thrive

Rare Symptoms - Less than 30% cases


Asthma Gout Purpura Pancreatitis Proteinuria Acidosis Myalgia Pancytopenia Increased serum ferritin Thrombocytopenia Diabetes mellitus Hypothyroidism Delayed puberty Hemolytic anemia Inflammatory abnormality of the skin Type I diabetes mellitus Abnormal intestine morphology Interstitial pulmonary abnormality Hepatomegaly Autoimmune hemolytic anemia Autoimmune thrombocytopenia Recurrent upper respiratory tract infections Interstitial pneumonitis Systemic lupus erythematosus Fever Recurrent bacterial infections Rheumatoid arthritis Arrhythmia Chronic lung disease Vasculitis Vomiting Juvenile rheumatoid arthritis Erythema Lymphoma Gastritis Chronic diarrhea Elevated erythrocyte sedimentation rate Nausea and vomiting Edema of the lower limbs Antinuclear antibody positivity Stage 5 chronic kidney disease Nausea Episodic fever Nephropathy Pericarditis IgM deficiency Amyloidosis Generalized lymphadenopathy Nephrotic syndrome Chest pain Leukocytosis Intestinal obstruction Chronic kidney disease Immune dysregulation Ascites Nephrocalcinosis Meningitis Osteoarthritis Myocardial infarction Follicular hyperplasia Hyperkalemia Cor pulmonale Acute hepatic failure Erysipelas Respiratory failure Congestive heart failure Neoplasm Orchitis Recurrent meningitis Recurrent otitis media Abnormality of the kidney Serositis Conjunctivitis Clubbing Azotemia Combined immunodeficiency Renal amyloidosis Gastrointestinal infarctions Recurrent sinusitis Oral leukoplakia Peritonitis Otitis media Verrucae Brain neoplasm Anemia of inadequate production Villous atrophy Clubbing of fingers Exocrine pancreatic insufficiency Congenital hypoplastic anemia Fatigable weakness IgA deficiency Decreased circulating aldosterone level Synovitis Stiff neck Pleuritis Malabsorption Primary hypothyroidism Abdominal pain Anterior uveitis Loss of consciousness Abnormality of the coagulation cascade Decreased liver function Tachycardia Fatigue Enlarged tonsils Chronic lymphatic leukemia Recurrent sinopulmonary infections Allergy B-cell lymphoma Neurodevelopmental delay Sacroiliac arthritis Enthesitis Hip osteoarthritis Disseminated intravascular coagulation Ocular pain Chronic pain Breathing dysregulation Uveitis Psoriasiform dermatitis Back pain Aortic regurgitation Photophobia Kyphosis Bloody diarrhea Erythema nodosum Agammaglobulinemia Ulcerative colitis Enterocolitis Secretory diarrhea Constipation Hyperlipidemia Headache Renal insufficiency Doll-like facies Lipemia retinalis Decreased glomerular filtration rate Oral ulcer Xanthelasma Xanthomatosis Enlarged kidney Hepatocellular carcinoma Protuberant abdomen Hyperuricemia Focal segmental glomerulosclerosis Nephrolithiasis Diffuse alveolar hemorrhage Abnormal bleeding Lactic acidosis Elevated hepatic transaminase Hypoglycemia Osteoporosis Hypertension Recurrent ear infections Atopic dermatitis Scleroderma Celiac disease Eczema Leukemia Abnormality of the dentition Burkitt lymphoma



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