Edema, and Encephalitis

Diseases related with Edema and Encephalitis

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

Top matches:

ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8; IIAE8 Is also known as herpes simplex encephalitis, susceptibility to, 6

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Fever
  • Edema
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8; IIAE8

Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.

FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY Is also known as adane|recurrent acute necrotizing encephalopathy|ane|encephalopathy, acute necrotizing, susceptibility to

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY

Familial hemophagocytic lymphohistiocytosis-2 (FHL2) is an autosomal recessive disorder of immune dysregulation with onset in infancy or early childhood. It is characterized clinically by fever, edema, hepatosplenomegaly, and liver dysfunction. Neurologic impairment, seizures, and ataxia are frequent. Laboratory studies show pancytopenia, coagulation abnormalities, hypofibrinogenemia, and hypertriglyceridemia. There is increased production of cytokines, such as gamma-interferon (IFNG ) and TNF-alpha (OMIM ), by hyperactivation and proliferation of T cells and macrophages. Activity of cytotoxic T cells and NK cells is reduced, consistent with a defect in cellular cytotoxicity. Bone marrow, lymph nodes, spleen, and liver show features of hemophagocytosis. Chemotherapy and/or immunosuppressant therapy may result in symptomatic remission, but the disorder is fatal without bone marrow transplantation (summary by Dufourcq-Lagelouse et al., 1999, Stepp et al., 1999, and Molleran Lee et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of FHL, see {267700}.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2 Is also known as hplh2|hlh2

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2; FHL2

Other less relevant matches:

Zur Stadt et al. (2005) summarized the clinical features of hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained (Henter et al., 2002). Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation (Durken et al., 1999). Genetic Heterogeneity of Familial Hemophagocytic LymphohistiocytosisFamilial hemophagocytic lymphohistiocytosis exhibits genetic heterogeneity. In some families, familial hemophagocytic lymphohistiocytosis has been found to be linked to chromosome 9q (HPLH1, FHL1). FHL2 (OMIM ) is caused by mutation in the PRF1 gene (OMIM ) on chromosome 10q22; FHL3 (OMIM ) is caused by mutation in the UNC13D gene (OMIM ) on chromosome 17q25; FHL4 (OMIM ) is caused by mutation in the syntaxin-11 gene (STX11 ) on chromosome 6q24; and FHL5 (OMIM ) is caused by mutation in the syntaxin-binding protein-2 (STXBP2 ), which is an interaction partner of STX11, on chromosome 19p13.Furthermore, before the identification of mutations in the RAG1 (OMIM ) and RAG2 (OMIM ) genes, both of which map to 11p, Omenn syndrome (familial reticuloendotheliosis with eosinophilia; {603554}) was not thought to be clearly distinct from other reported cases of hemophagocytic lymphohistiocytosis.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1 Is also known as hemophagocytic reticulosis, familial|hlh1|hemophagocytic lymphohistiocytosis, familial|erythrophagocytic lymphohistiocytosis, familial|reticulosis, familial histiocytic|hplh1|fhl|fhlh|hplh|fel

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1

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

Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.

GLUTARYL-COA DEHYDROGENASE DEFICIENCY Is also known as ga i|glutaric aciduria i|gcdhd|ga1|glutaryl-coenzyme a dehydrogenase deficiency|glutaric aciduria type 1|glutaric acidemia type 1|glutaryl-coa dehydrogenase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GLUTARYL-COA DEHYDROGENASE DEFICIENCY

Medium match BEHÇET DISEASE

Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

BEHÇET DISEASE Is also known as bd|behcet disease

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BEHÇET DISEASE

Follicular lymphoma is a form of non-Hodgkin lymphoma (see this term) characterized by a proliferation of B cells whose nodular structure of follicular architecture is preserved.

FOLLICULAR LYMPHOMA Is also known as oncogene b-cell leukemia 2

Related symptoms:

  • Neoplasm
  • Fever
  • Fatigue
  • Diarrhea
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FOLLICULAR LYMPHOMA

Sterile multifocal osteomyelitis with periostitis and pustulosis is a rare, severe, genetic autoinflammatory syndrome characterized by usually neonatal onset of generalized neutrophilic cutaneous pustulosis and severe, recurrent, multifocal, aseptic osteomyelitis with marked periostitis, typically affecting distal ribs, long bones and vertebral bodies. High levels of acute-phase reactants (with no fever associated) and onychosis are frequently observed additional features.

STERILE MULTIFOCAL OSTEOMYELITIS WITH PERIOSTITIS AND PUSTULOSIS Is also known as interleukin-1 receptor antagonist deficiency|interleukin 1 receptor antagonist deficiency|autoinflammatory disease due to interleukin-1 receptor antagonist deficiency|dira|ompp

Related symptoms:

  • Pain
  • Feeding difficulties
  • Hepatomegaly
  • Fever
  • Respiratory insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about STERILE MULTIFOCAL OSTEOMYELITIS WITH PERIOSTITIS AND PUSTULOSIS

Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis (OMIM ) and leprosy (OMIM ). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River (Clancey et al., 1961; Barker, 1971). The disease was first described in the medical literature in 1948 in a report on patients in Australia (MacCallum et al., 1948). Patients have also been reported from tropical areas in Latin America and Asia (Stienstra et al., 2006; van der Werf et al., 2005).

BURULI ULCER, SUSCEPTIBILITY TO Is also known as mycobacterium ulcerans, susceptibility to

Related symptoms:

  • Edema


SOURCES: OMIM MENDELIAN

More info about BURULI ULCER, SUSCEPTIBILITY TO

Top 5 symptoms//phenotypes associated to Edema and Encephalitis

Symptoms // Phenotype % cases
Fever Very Common - Between 80% and 100% cases
Meningitis Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Encephalitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Coma Lymphadenopathy Diarrhea Generalized hypotonia Failure to thrive Hepatomegaly Irritability Cough Skin rash Global developmental delay Headache Neoplasm Sepsis Fatigue Increased CSF protein Tetraplegia Increased intracranial pressure Gliosis Hemiplegia Hypertonia Gait disturbance Vomiting Confusion Immunodeficiency Encephalopathy

Rare Symptoms - Less than 30% cases

Generalized edema Prolonged prothrombin time Hemophagocytosis Arthralgia Hypofibrinogenemia Hypoproteinemia Stomatitis Pustule CSF pleocytosis Pleural effusion Muscular hypotonia Recurrent infections Vasculitis Increased total bilirubin Stroke Weight loss Neutropenia Cognitive impairment Dilatation Increased serum ferritin Feeding difficulties Osteomyelitis Dehydration Malabsorption Pain Arthritis Vertigo Pulmonary infiltrates Lymphoma Migraine Leukemia Respiratory tract infection Cerebral ischemia Developmental regression Cerebral edema Hepatosplenomegaly Polyneuritis Acute encephalopathy Rigidity Anemia Hyponatremia Spasticity Hemiparesis Jaundice Thrombocytopenia Elevated hepatic transaminase Pancytopenia Hypertriglyceridemia Pneumonia Leukopenia Hypoalbuminemia Subcutaneous nodule Mitral regurgitation Anorexia Myocardial infarction Lethargy Pancreatitis Aortic regurgitation Cranial nerve paralysis Abnormality of coagulation Epiphora Venous thrombosis Mental deterioration Rheumatoid arthritis Acne Inflammation of the large intestine Memory impairment Blurred vision Glomerulopathy Keratoconjunctivitis sicca Pericarditis Hemoptysis Pulmonary embolism Aseptic necrosis Uveitis Abnormal blistering of the skin Autoimmunity Gastrointestinal hemorrhage Glaucoma Ketonemia Subdural hemorrhage Herpes simplex encephalitis Cataract Hyperreflexia Blindness Behavioral abnormality Renal insufficiency Visual loss Alopecia Abdominal pain Reduced visual acuity Chest pain Dyspnea Photophobia Myalgia Erythema Joint stiffness Scarring Retinopathy Gangrene Abnormal pyramidal sign Papule Nausea and vomiting Paresthesia EEG abnormality Alopecia areata Raynaud phenomenon Scaling skin Chronic lymphatic leukemia Night sweats Skin nodule Mediastinal lymphadenopathy Abnormality of the peritoneum Respiratory insufficiency Respiratory distress Hyperkeratosis Osteopenia Epidermal acanthosis Inflammatory abnormality of the skin Osteolysis Psoriasiform dermatitis Glucose intolerance Hyperostosis Leukocytosis Interstitial pulmonary abnormality Vertebral fusion Fragile skin Joint swelling Thrombocytosis Fused cervical vertebrae Fetal distress Low-grade fever Cerebral vasculitis Periostitis Chronic recurrent multifocal osteomyelitis B-cell lymphoma Lymphedema Myositis Optic neuritis Abnormal myocardium morphology Arterial thrombosis Recurrent aphthous stomatitis Obesity Macrocephaly at birth Endocarditis Oral ulcer Pleuritis Thrombophlebitis Erythema nodosum Immunologic hypersensitivity Chorioretinitis Anterior uveitis Insulin resistance Posterior uveitis Iridocyclitis Increased inflammatory response Iritis Retrobulbar optic neuritis Orchitis Superficial thrombophlebitis Panuveitis Genital ulcers Epididymitis Decreased level of D-mannose in urine Hypopyon Nausea Symmetrical progressive peripheral demyelination Intellectual disability Glutaric acidemia Decreased antibody level in blood T-cell lymphoma Increased VLDL cholesterol concentration Plasmacytosis Lipogranulomatosis Abnormal natural killer cell physiology Hypertelorism High palate Epicanthus Recurrent respiratory infections Abducens palsy Abnormal posturing Severe vision loss Foot dorsiflexor weakness Partial albinism Hepatitis Recurrent otitis media Chronic diarrhea Bronchiectasis Sinusitis Recurrent pneumonia Recurrent bacterial infections Conjunctivitis Recurrent skin infections Chronic otitis media Hallucinations Cellulitis Granulocytopenia Increased LDL cholesterol concentration Recurrent sinusitis Hyperbilirubinemia Papilledema Immune dysregulation Decreased liver function Diplopia Abnormality of the nervous system Abnormality of the liver Acute necrotizing encephalopathy Hepatic failure Hemolytic anemia Necrotizing encephalopathy Peripheral demyelination Aspiration Purpura Histiocytosis Eosinophilia Albinism Abnormality of the coagulation cascade Combined immunodeficiency Increased antibody level in blood Episodic fever Severe combined immunodeficiency Abnormal muscle tone Acute leukemia Prolonged partial thromboplastin time Decreased HDL cholesterol concentration Cellular immunodeficiency Bronchitis External ear malformation Glutaric aciduria Intracranial hemorrhage Abnormal cerebellum morphology Delayed myelination Aciduria Neuronal loss in central nervous system Abnormality of extrapyramidal motor function Choreoathetosis Large fontanelles Exercise intolerance Joint dislocation Cerebral palsy Leukoencephalopathy Hyperkinesis Spastic diplegia Dyskinesia Malnutrition Opisthotonus Bulbar palsy Malignant hyperthermia Generalized dystonia Ketonuria Abnormality of the retinal vasculature Dilation of lateral ventricles Decreased plasma carnitine Fasting hypoglycemia Infantile encephalopathy Retinal hemorrhage Metabolic acidosis Inability to walk Agammaglobulinemia Dystonia Verrucae B lymphocytopenia Crohn's disease Recurrent enteroviral infections Abnormal facial shape Spastic tetraplegia Motor delay Macrocephaly Tremor Dysphagia Cardiomyopathy Myopathy Polyneuropathy Visual impairment Dementia Prominent forehead Hyperhidrosis Acidosis Hypoglycemia Feeding difficulties in infancy Pallor Paralysis Neurological speech impairment Abnormality of the cerebral white matter Abnormality of eye movement Abnormality of movement Onychomadesis


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