Fever, and Pneumonia

Diseases related with Fever and Pneumonia

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

Top matches:

EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO Is also known as extraoral halitosis with dimethylsulfoxiduria|methanethiol oxidase deficiency|mto deficiency

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ptosis
  • Fever
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY; EHMTO

EIEE52 is an autosomal recessive seizure disorder characterized by infantile onset of refractory seizures with resultant delayed global neurologic development that causes intellectual disability and other persistent neurologic abnormalities (summary by Patino et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52; EIEE52

FADD-related immunodeficiency is a rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.

FADD-RELATED IMMUNODEFICIENCY Is also known as fadd deficiency

Related symptoms:

  • Seizures
  • Fever
  • Ventricular septal defect
  • Cerebral atrophy
  • Recurrent infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about FADD-RELATED IMMUNODEFICIENCY

Other less relevant matches:

Sudden infant death syndrome (SIDS) is a diagnosis of exclusion which should be made only after a thorough autopsy without identification of a specific cause of death (Mage and Donner, 2004).Weese-Mayer et al. (2007) provided a detailed review of genetic factors that have been implicated in SIDS. The authors concluded that SIDS represents more than 1 entity and has a heterogeneous etiology most likely involving several different genetically controlled metabolic pathways.

SUDDEN INFANT DEATH SYNDROME Is also known as sids

Related symptoms:

  • Fever
  • Respiratory distress
  • Abnormal heart morphology
  • Pneumonia
  • Acidosis


SOURCES: OMIM MESH MENDELIAN

More info about SUDDEN INFANT DEATH SYNDROME

Lymphoproliferative syndrome-1 is an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia. Autoimmune disorders, such as autoimmune hemolytic anemia or renal disease, may also occur. Patients show a high EBV viral load and decreased invariant natural killer T cells. It is unknown whether patients with ITK mutations are intrinsically susceptible to development of lymphoma or dysgammaglobulinemia in the absence of EBV infection (summary by Stepensky et al., 2011; Linka et al., 2012).For a discussion of genetic heterogeneity of lymphoproliferative syndrome, see XLP1 (OMIM ).

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Immunodeficiency


SOURCES: OMIM MESH MENDELIAN

More info about LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1

Osteopetrosis-hypogammaglobulinemia syndrome is an extremely rare primary bone dysplasia with increased bone density disorder characterized by severe osteoclast-poor osteopetrosis associated with hypogammaglobulinemia. Patients typically present infantile malignant osteopetrosis (manifesting with increased bone density, bone fractures, abnormal eye movements/visual loss, nystagmus), hematologic abnormalities with bone marrow failure (e.g. anemia, hepatosplenomegaly) and immunological deficiency (manifesting as recurrent respiratory infections) associated with reduced immunoglobulin levels due to impaired peripheral B cell differentiation.

OSTEOPETROSIS-HYPOGAMMAGLOBULINEMIA SYNDROME Is also known as osteopetrosis, osteoclast-poor, with hypogammaglobulinemia|autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia|autosomal recessive osteopetrosis type 7

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Nystagmus
  • Anemia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OSTEOPETROSIS-HYPOGAMMAGLOBULINEMIA SYNDROME

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

Chronic Epstein-Barr virus infection syndrome is a rare infectious disease characterized by familial, primary, chronic Epstein-Barr virus infection which typically manifests with persistent mononucleosis-like signs and symptoms, in the absence of secondary immunodeficiency.

CHRONIC EPSTEIN-BARR VIRUS INFECTION SYNDROME Is also known as irf8 deficiency, autosomal recessive|epstein-barr virus, susceptibility to chronic infection by|immunodeficiency 32b, monocyte, dendritic cell, and natural killer cell deficiency, autosomal recessive|caebv syndrome|chronic ebv infection syndrome

Related symptoms:

  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHRONIC EPSTEIN-BARR VIRUS INFECTION SYNDROME

Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms).

BRAIN-LUNG-THYROID SYNDROME Is also known as choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome|brain-lung-thyroid syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BRAIN-LUNG-THYROID SYNDROME

Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause.

IDIOPATHIC PULMONARY FIBROSIS Is also known as cfa|uip|usual interstitial pneumonia|interstitial pneumonitis, usual|idiopathic pulmonary fibrosis, familial|cryptogenic fibrosing alveolitis|fibrosing alveolitis, cryptogenic|fibrocystic pulmonary dysplasia

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fever
  • Respiratory insufficiency
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about IDIOPATHIC PULMONARY FIBROSIS

Top 5 symptoms//phenotypes associated to Fever and Pneumonia

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Respiratory distress Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Decreased antibody level in blood Recurrent infections Respiratory tract infection Respiratory failure Recurrent pneumonia

Rare Symptoms - Less than 30% cases

Respiratory insufficiency Hepatomegaly Splenomegaly Skeletal muscle atrophy Failure to thrive Thrombocytopenia Abnormal lung morphology Apnea Lymphadenopathy Interstitial pulmonary abnormality Lymphoma Pancytopenia Lymphopenia Generalized hypotonia Ventricular septal defect Bronchiectasis Recurrent respiratory infections Ataxia Neoplasm Cyanosis Pulmonary infiltrates Atrial septal defect Muscular hypotonia Dysarthria Otitis media Agammaglobulinemia Hypoplasia of the thymus Decrease in T cell count B lymphocytopenia Motor delay Panhypogammaglobulinemia Mastoiditis Meningitis Recurrent opportunistic infections Chronic infection Recurrent sinusitis Failure to thrive secondary to recurrent infections Conjunctivitis Fatigue Sinusitis Dilatation Hepatic failure Combined immunodeficiency Skin rash Severe combined immunodeficiency Asthma Dystonia Exertional dyspnea Scarring Cough Cirrhosis Pulmonary arterial hypertension Scaling skin Clubbing Pulmonary fibrosis Increased antibody level in blood Polycythemia Gastroesophageal reflux Clubbing of fingers Right ventricular failure Pulmonary insufficiency Crackles Alveolar cell carcinoma Hypocapnia Reticular pattern on pulmonary HRCT Honeycomb lung Carcinoma Dyspnea Gait ataxia Hyperkinesis Hypothyroidism Difficulty walking Abnormal cardiac septum morphology Abnormality of movement Sleep disturbance Chorea Choreoathetosis Infantile muscular hypotonia Neonatal respiratory distress Congestive heart failure Athetosis Abnormality of the thyroid gland Congenital hypothyroidism Parkinsonism with favorable response to dopaminergic medication Increased thyroid-stimulating hormone level Compensated hypothyroidism Thyroid dysgenesis Hypertension Arthritis Dysgammaglobulinemia Diarrhea Cholestasis Hemiclonic seizures Cerebral atrophy Abnormality of cardiovascular system morphology Encephalopathy Elevated hepatic transaminase Generalized-onset seizure Decreased liver function Developmental stagnation Hepatic fibrosis Pulmonary artery atresia Autoimmune antibody positivity Abnormal heart morphology Acidosis Hypoglycemia Small for gestational age Atypical absence seizures Aspiration pneumonia Coma Abnormality of the nervous system Ptosis Pectus carinatum Bilateral ptosis Muscle fibrillation Halitosis Intellectual disability Spasticity Abnormal pyramidal sign Focal impaired awareness seizure Generalized tonic-clonic seizures Generalized myoclonic seizures Febrile seizures Epileptic encephalopathy Status epilepticus Limb ataxia Aspiration Hepatic steatosis Shock Abnormal trabecular bone morphology Scoliosis Immune dysregulation Stomatitis Recurrent aphthous stomatitis Histiocytosis Hemophagocytosis Granulomatosis Generalized lymphadenopathy Short stature IgG deficiency Nystagmus Progressive visual loss Increased bone mineral density Bone marrow hypocellularity Hypocalcemia Osteopetrosis Optic nerve compression Lymphoproliferative disorder Hodgkin lymphoma Venous thrombosis Hypercapnia Prolonged QT interval Bronchitis Malignant hyperthermia Hypoxemia Bronchiolitis Microvesicular hepatic steatosis Glutaric acidemia Apneic episodes in infancy Autoimmune hemolytic anemia Hepatosplenomegaly Autoimmunity Hemolytic anemia Ascites Pleural effusion Elevated erythrocyte sedimentation rate Pericardial effusion Ground-glass opacification on pulmonary HRCT


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