Arthritis, and Pneumonia

Diseases related with Arthritis and Pneumonia

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


Top matches:

Low match AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE; AGM2


AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE; AGM2 Is also known as agammaglobulinemia, autosomal recessive, due to igll1 defect

Related symptoms:

  • Arthritis
  • Decreased antibody level in blood
  • Meningitis
  • Recurrent pneumonia
  • Recurrent bacterial infections


SOURCES: OMIM MENDELIAN

More info about AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE; AGM2

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 MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS


Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.

MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS Is also known as namaqualand hip dysplasia|nhd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Pain
  • Congestive heart failure
  • Pneumonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS

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Other less relevant matches:

Low match CONGENITAL ATRANSFERRINEMIA


Congenital atransferrinemia is a very rare hematologic disease caused by a transferrin (TF) deficiency and characterized by microcytic, hypochromic anemia (manifesting with pallor, fatigue and growth retardation) and iron overload, and that can be fatal if left untreated.

CONGENITAL ATRANSFERRINEMIA Is also known as hypotransferrinemia, familial|congenital hypotransferrinemia

Related symptoms:

  • Growth delay
  • Anemia
  • Hepatomegaly
  • Fatigue
  • Congestive heart failure


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONGENITAL ATRANSFERRINEMIA

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

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 COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH


Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia is an inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. Folinic acid supplementation is an effective treatment (summary by Ramakrishnan et al., 2016).

COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH Is also known as methylenetetrahydrofolate dehydrogenase 1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA; CIMAH

Low match CATARACT-GLAUCOMA SYNDROME


Cataract-glaucoma syndrome is characterised by the association of total bilateral congenital cataract with the secondary occurrence of glaucoma appearing at ages varying between 10 and 40 years.

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Pain
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about CATARACT-GLAUCOMA SYNDROME

Low match ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT


Mutations in the NFKBIA gene result in functional impairment of NFKB1 (OMIM ), a master transcription factor required for normal activation of immune responses. Interruption of NFKB1 signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Delayed speech and language development
  • Frontal bossing
  • Diarrhea


SOURCES: OMIM MESH MENDELIAN

More info about ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT

Top 5 symptoms//phenotypes associated to Arthritis and Pneumonia

Symptoms // Phenotype % cases
Fever Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Agammaglobulinemia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Meningitis Decreased antibody level in blood Short stature Otitis media Recurrent respiratory infections Recurrent bacterial infections

Rare Symptoms - Less than 30% cases


Lymphopenia Combined immunodeficiency Severe combined immunodeficiency Respiratory tract infection Diarrhea Failure to thrive Recurrent urinary tract infections Recurrent skin infections Pallor Hemolytic-uremic syndrome Growth delay Septic arthritis Vomiting Anemia Hypertension Juvenile rheumatoid arthritis Congestive heart failure Generalized hypotonia Pain Seizures Leukocytosis Rectal abscess Decreased methylcobalamin Folate deficiency Decreased platelet glycoprotein IIb-IIIa Thiamine-responsive megaloblastic anemia Recurrent bacterial skin infections Asthenia Feeding difficulties Severe periodontitis Abnormal granulocyte morphology Recurrent staphylococcal infections Megaloblastic anemia Anisocytosis Metabolic acidosis Acidosis Autoimmunity Retinopathy Sensorineural hearing impairment Hearing impairment Abnormality of the dentition Bilateral sensorineural hearing impairment Intellectual disability, mild Pancytopenia Leukopenia Macrocytic anemia Thrombocytosis Antinuclear antibody positivity Recurrent gram-negative bacterial infections Respiratory distress Craniosynostosis Headache Bronchiectasis Sparse hair Dry skin Hypodontia Ectodermal dysplasia Fine hair Sparse scalp hair Chronic diarrhea Hypohidrosis Frontal bossing Anhidrosis Heat intolerance Conical tooth Concave nasal ridge Lymphocytosis Anhidrotic ectodermal dysplasia Recurrent infection of the gastrointestinal tract Periorbital wrinkles Hepatosplenomegaly Delayed speech and language development Constipation Increased intracranial pressure Brachycephaly Respiratory failure Proptosis Arthralgia Peritonitis Waddling gait Bone pain Hypercalcemia Pulmonary insufficiency Rickets Osteomalacia Premature loss of teeth Papilledema Chondrocalcinosis Chronic pain Aplasia of the sweat glands Premature loss of primary teeth Abnormal thrombocyte morphology Decreased serum complement factor B Periodontitis Scarring Heberden's node Schmorl's node Hepatomegaly Fatigue Hypothyroidism Abnormality of the liver Cirrhosis Morphological abnormality of the central nervous system Abnormality of the cardiovascular system Microcytic anemia Abnormality of the pancreas Hypochromic microcytic anemia Hypochromic anemia Atransferrinemia Conjunctivitis Knee osteoarthritis Hip pain Decrease in T cell count Platyspondyly Recurrent pneumonia Erythema Neutropenia Inflammation of the large intestine Erythema nodosum Joint stiffness Joint hypermobility Hip osteoarthritis Hip dysplasia Osteoarthritis Pathologic fracture Arthropathy Irregular vertebral endplates Exostoses Beaking of vertebral bodies Hypoplasia of the thymus B lymphocytopenia Gingivitis Glomerular deposits Recurrent streptococcus pneumoniae infections Tonsillitis Recurrent meningococcal disease Recurrent meningitis Decreased serum complement factor H Decreased serum complement factor I Recurrent Haemophilus influenzae infections Mesangial hypercellularity Intellectual disability, severe Confusion Bruising susceptibility Abnormal bleeding Epistaxis Rheumatoid arthritis Cellulitis Decreased serum complement C3 Pyelonephritis Panhypogammaglobulinemia Sepsis Mastoiditis Recurrent opportunistic infections Failure to thrive secondary to recurrent infections Renal insufficiency Proteinuria Hematuria Recurrent otitis media Recurrent sinusitis Sinusitis Vasculitis Purpura Chronic kidney disease Systemic lupus erythematosus Glomerulonephritis Nephritis Defective production of NFKB1-dependent cytokines



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