Arthritis, and Otitis media

Diseases related with Arthritis and Otitis media

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


Top matches:

Low match AGAMMAGLOBULINEMIA 8, AUTOSOMAL DOMINANT; AGM8


AGAMMAGLOBULINEMIA 8, AUTOSOMAL DOMINANT; AGM8 Is also known as agammaglobulinemia, autosomal dominant, due to tcf3 defect

Related symptoms:

  • Arthritis
  • Recurrent otitis media
  • Meningitis
  • Agammaglobulinemia
  • B lymphocytopenia


SOURCES: OMIM MENDELIAN

More info about AGAMMAGLOBULINEMIA 8, AUTOSOMAL DOMINANT; AGM8

Low match SEVERE COMBINED IMMUNODEFICIENCY DUE TO COMPLETE RAG1/2 DEFICIENCY


Severe combined immunodeficiency due to complete RAG1/2 deficiency is a rare, genetic T-B- severe combined immunodeficiency disorder due to null mutations in recombination activating gene (RAG) 1 and/or RAG2 resulting in less than 1% of wild type V(D)J recombination activity. Patients present with neonatal onset of life-threatening, severe, recurrent infections by opportunistic fungal, viral and bacterial micro-organisms, as well as skin rashes, chronic diarrhea, failure to thrive and fever. Immunologic observations include profound T- and B-cell lymphopenia, normal NK counts and low or absent serum immunoglobulins; some patients may have eosinophilia.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO COMPLETE RAG1/2 DEFICIENCY Is also known as scid, t cell-negative, b cell-negative, nk cell-positive|scid due to complete rag1/2 deficiency

Related symptoms:

  • Failure to thrive
  • Fever
  • Diarrhea
  • Immunodeficiency
  • Pneumonia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO COMPLETE RAG1/2 DEFICIENCY

Low match IMMUNODEFICIENCY WITH FACTOR I ANOMALY


Immunodeficiency with factor I anomaly is a rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent, usually severe, infections (particularly by Neisseria meningitidis, Haemophilus influenzae and Streptococcus pneumonia), typically manifesting as otitis, sinusitis, bronchitis, pneumonia, and/or meningitis. Autoimmune disease (e.g. systemic lupus erythematosus, glomerulonephritis) and atypical hemolytic uremic syndrome may be associated. Laboratory serum analysis reveals, in addition to diminished or undetectable complement factor I, variably decreased complement C3, complement factor B and complement factor H.

IMMUNODEFICIENCY WITH FACTOR I ANOMALY Is also known as complement component 3 inactivator deficiency|c3 inactivator deficiency

Related symptoms:

  • Fever
  • Renal insufficiency
  • Recurrent infections
  • Pneumonia
  • Recurrent respiratory infections


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY WITH FACTOR I ANOMALY

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD


Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bacterial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes; and a lack of beta-2/alpha-L, beta-2/alpha-M, and beta-2/alpha-X expression.

LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD Is also known as lad1|lymphocyte function-associated antigen 1 immunodeficiency|lfa1 immunodeficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Intellectual disability, severe
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD

Low match ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3


ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3 Is also known as hypogammaglobulinemia and isolated growth hormone deficiency, x-linked|ighd iii|fleisher syndrome|agammaglobulinemia and isolated growth hormone deficiency, x-linked|growth hormone deficiency with hypogammaglobulinemia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Diarrhea
  • Immunodeficiency
  • Delayed skeletal maturation


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3

Low match WHIM SYNDROME


WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).

WHIM SYNDROME Is also known as warts, hypogammaglobulinemia, infections, and myelokathexis syndrome|warts-infections-leukopenia-myelokatexis syndrome|wilm|warts-hypogammaglobulinemia-infections-myelokathexis syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Fever
  • Congestive heart failure
  • Immunodeficiency


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WHIM SYNDROME

Low match AUTOSOMAL AGAMMAGLOBULINEMIA


Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.

AUTOSOMAL AGAMMAGLOBULINEMIA Is also known as agammaglobulinemia, autosomal recessive, due to ighm defect|agammaglobulinemia, non-bruton type

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • High palate
  • Epicanthus
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL AGAMMAGLOBULINEMIA

Low match RIDDLE SYNDROME


A rare, genetic, primary immunodeficiency disorder characterized by increased radiosensitivity(R), mild immunodeficiency (ID), dysmorphic features (D), and learning difficulties (LE).

RIDDLE SYNDROME Is also known as rnf168 deficiency|radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome|radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia
  • Neoplasm


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RIDDLE SYNDROME

Low match ASPARTYLGLUCOSAMINURIA


Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).

ASPARTYLGLUCOSAMINURIA Is also known as aspartylglucosaminidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA

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 Otitis media

Symptoms // Phenotype % cases
Pneumonia Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
Meningitis Common - Between 50% and 80% cases
Recurrent bacterial infections Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Arthritis and Otitis media. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Decreased antibody level in blood Conjunctivitis Sinusitis Recurrent sinusitis Recurrent otitis media Recurrent respiratory infections Fever Respiratory tract infection Bronchiectasis Verrucae Cellulitis Short stature Chronic otitis media Recurrent skin infections Respiratory failure Neoplasm Recurrent urinary tract infections Neutropenia Septic arthritis Failure to thrive Recurrent infections Agammaglobulinemia Combined immunodeficiency B lymphocytopenia

Rare Symptoms - Less than 30% cases


Intellectual disability Lymphoma Recurrent upper respiratory tract infections Panhypogammaglobulinemia Osteomyelitis Hypertelorism IgA deficiency IgM deficiency Tonsillitis IgG deficiency Abnormal lung morphology Periodontitis Splenomegaly Malabsorption Carious teeth Interstitial pulmonary abnormality Generalized lymphadenopathy Sepsis Abnormal facial shape Congestive heart failure Purpura Encephalitis Delayed skeletal maturation Hearing impairment Bronchitis Recurrent pneumonia Recurrent enteroviral infections Chronic diarrhea Leukocytosis Coarse facial features Restrictive ventilatory defect Mandibular prognathia Inguinal hernia Demyelinating peripheral neuropathy Short nose Increased sensitivity to ionizing radiation Recurrent viral infections Mild global developmental delay Chronic sinusitis Conjunctival telangiectasia Elevated alpha-fetoprotein Enuresis nocturna Episodic fever Intraventricular hemorrhage Neonatal asphyxia Behavioral abnormality Chromosomal breakage induced by ionizing radiation Poor hand-eye coordination Seizures Scoliosis Delayed speech and language development Hepatomegaly Wide nasal bridge Abnormality of the dentition Umbilical hernia Macroorchidism Pes planus Fatigable weakness Hemolytic anemia Asthma Pancytopenia Inflammatory abnormality of the skin Type I diabetes mellitus Abnormal intestine morphology Clubbing Inflammation of the large intestine Colitis Autoimmune hemolytic anemia Autoimmune thrombocytopenia Autoimmunity Exocrine pancreatic insufficiency Chronic lung disease Clubbing of fingers Villous atrophy Brain neoplasm Cor pulmonale Immune dysregulation Gastritis Interstitial pneumonitis Follicular hyperplasia Lymphadenopathy Hepatosplenomegaly Joint stiffness Abnormality of the ulna Pectus carinatum Microtia Neurological speech impairment Thick vermilion border Dyskinesia Sleep disturbance Macroglossia Gingival overgrowth Abnormal vertebral morphology Thickened calvaria Emotional lability Hypothyroidism Beaking of vertebral bodies Abnormal cortical bone morphology Large face Vascular skin abnormality Anterior beaking of lumbar vertebrae Abnormality of amino acid metabolism Aspartylglucosaminuria Growth delay Anemia Thrombocytopenia Diabetes mellitus Pulmonary fibrosis Epicanthus Scaling skin Confusion Decreased serum complement factor B Decreased serum complement factor H Decreased serum complement factor I Glomerular deposits Recurrent Haemophilus influenzae infections Generalized hypotonia Intellectual disability, severe Bruising susceptibility Recurrent meningococcal disease Abnormal bleeding Epistaxis Rheumatoid arthritis Gingivitis Peritonitis Juvenile rheumatoid arthritis Abnormal thrombocyte morphology Recurrent bacterial skin infections Recurrent meningitis Recurrent streptococcus pneumoniae infections Decreased platelet glycoprotein IIb-IIIa Proteinuria Lymphopenia Severe combined immunodeficiency Hypoplasia of the thymus Decrease in T cell count Mastoiditis Recurrent opportunistic infections Failure to thrive secondary to recurrent infections Renal insufficiency Hematuria Decreased serum complement C3 Vasculitis Chronic kidney disease Systemic lupus erythematosus Glomerulonephritis Nephritis Pyelonephritis Hemolytic-uremic syndrome Mesangial hypercellularity Rectal abscess Severe periodontitis Telangiectasia Ataxia Cough Dehydration Hepatitis External ear malformation Crohn's disease Global developmental delay Microcephaly Gait disturbance Fatigue Headache Abdominal pain Weight loss Erythema Abnormality of the cerebral white matter Dry skin Specific learning disability Clumsiness Skin rash High palate Abnormal granulocyte morphology Enteroviral hepatitis Recurrent staphylococcal infections Recurrent gram-negative bacterial infections Growth hormone deficiency Recurrent sinopulmonary infections Pyoderma Epididymitis Prostatitis Enteroviral dermatomyositis syndrome Carcinoma Myelokathexis B-cell lymphoma Atelectasis Abnormality of female internal genitalia Abnormality of female external genitalia Abnormality of bone marrow cell morphology Folliculitis Hypersegmentation of neutrophil nuclei Bone marrow hypercellularity Burkitt lymphoma



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Neonatal hypotonia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more