Fever, and Abnormality of the eye

Diseases related with Fever and Abnormality of the eye

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

Top matches:

Inflammatory myofibroblastic tumor is a rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usually benign, however local invasion, recurrence, malignant transformation with vascular invasion and metastases may occur. The presentation is nonspecific and depends on the organ involved. Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, anemia, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction.

Related symptoms:

  • Neoplasm
  • Pain
  • Fever


SOURCES: ORPHANET MENDELIAN

More info about INFLAMMATORY MYOFIBROBLASTIC TUMOR

Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG)..

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IRF8 DEFICIENCY Is also known as msmd due to partial interferon regulatory factor 8 deficiency|msmd due to partial irf8 deficiency|irf8 deficiency, autosomal dominant|mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency|immunodeficie

Related symptoms:

  • Fever
  • Immunodeficiency
  • Recurrent infections
  • Lymphadenopathy
  • Abnormality of immune system physiology


SOURCES: OMIM ORPHANET MENDELIAN

More info about MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO PARTIAL IRF8 DEFICIENCY

Pyogenic bacterial infection due to MyD88 deficiency is a primary immunodeficiency characterized by increased susceptibility to pyogenic bacterial infections, including invasive pneumococcal, invasive staphylococcal and pseudomonas disease.

PYOGENIC BACTERIAL INFECTIONS DUE TO MYD88 DEFICIENCY Is also known as myd88 deficiency|pyogenic bacterial infections, recurrent, due to myd88 deficiency|recurrent pyogenic bacterial infections due to myd88 deficiency

Related symptoms:

  • Fever
  • Immunodeficiency
  • Recurrent bacterial skin infections


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PYOGENIC BACTERIAL INFECTIONS DUE TO MYD88 DEFICIENCY

Other less relevant matches:

Related symptoms:

  • Peripheral neuropathy
  • Fever
  • Skeletal muscle atrophy
  • Lower limb muscle weakness


SOURCES: OMIM MESH MENDELIAN

More info about NEUROPATHY, PAINFUL

ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5; IIAE5 Is also known as herpes simplex encephalitis, susceptibility to, 3

Related symptoms:

  • Seizures
  • Fever
  • Diarrhea
  • Aphasia


SOURCES: OMIM MENDELIAN

More info about ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5; IIAE5

Low match TUBERCULOSIS

Tuberculosis (TB) is a contagious-infectious disease caused mainly by Mycobacterium tuberculosis that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency.

Related symptoms:

  • Fever
  • Fatigue
  • Weight loss
  • Cough
  • Abnormal lung morphology


SOURCES: ORPHANET MENDELIAN

More info about TUBERCULOSIS

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

Mutations in the SCN1A gene cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures to generalized epilepsy with febrile seizures plus, type 2, which represents a more severe phenotype. Patients with isolated febrile seizures usually have onset between ages 6 months and 4 years and show spontaneous remission by age 6 years (summary by Mantegazza et al., 2005), whereas patients with GEFS+ continue to have various types of febrile and afebrile seizures later in life (summary by Singh et al., 2009). Dravet syndrome (OMIM ), or severe myoclonic epilepsy of infancy, is the most severe phenotype associated with SCN1A mutations.Mutations in certain genes can cause a phenotypic spectrum of overlap between the isolated febrile phenotype and the GEFS+ phenotype. For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}. For a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see {121210}.

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2; GEFSP2 Is also known as gefs+2|gefs+, type 2

Related symptoms:

  • Seizures
  • Fever
  • Generalized tonic-clonic seizures
  • Generalized myoclonic seizures
  • Focal-onset seizure


SOURCES: OMIM MESH MENDELIAN

More info about GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2; GEFSP2

Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome in which family members display a seizure disorder from the GEFS+ spectrum which ranges from simple febrile seizures (FS) to the more severe phenotype of myoclonic-astatic epilepsy (MAE) or Dravet syndrome (DS) (see these terms).

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS Is also known as gefs+1|gefs+|gefs+, type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Fever
  • Generalized tonic-clonic seizures
  • Generalized myoclonic seizures


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GENERALIZED EPILEPSY WITH FEBRILE SEIZURES-PLUS

ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6; IIAE6 Is also known as herpes simplex encephalitis, susceptibility to, 4

Related symptoms:

  • Fever
  • Severe viral infections
  • Herpes simplex encephalitis


SOURCES: OMIM MENDELIAN

More info about ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6; IIAE6

Top 5 symptoms//phenotypes associated to Fever and Abnormality of the eye

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Atonic seizures Rare - less than 30% cases
Immunodeficiency Rare - less than 30% cases
Generalized tonic-clonic seizures Rare - less than 30% cases
Generalized myoclonic seizures Rare - less than 30% cases

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases

Focal-onset seizure Febrile seizures Skeletal muscle atrophy Generalized-onset seizure Absence seizures Halitosis Neoplasm Generalized tonic seizures Bilateral ptosis Generalized tonic-clonic seizures with focal onset Hemiclonic seizures Simple febrile seizures Intellectual disability Focal impaired awareness seizure Severe viral infections Muscle fibrillation Ptosis Pectus carinatum Diarrhea Recurrent infections Lymphadenopathy Abnormality of immune system physiology Recurrent bacterial skin infections Peripheral neuropathy Lower limb muscle weakness Aphasia Pneumonia Fatigue Weight loss Cough Abnormal lung morphology Global developmental delay Scoliosis Pain Herpes simplex encephalitis


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