Edema, and Encephalopathy

Diseases related with Edema and Encephalopathy

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

Top matches:

Acute encephalopathy is a severe neurologic complication of an infection that usually occurs in children. It is characterized by a high-grade fever accompanied within 12 to 48 hours by febrile convulsions, often leading to coma, multiple-organ failure, brain edema, and high morbidity and mortality. The infections are usually viral, particularly influenza, although other viruses and even mycoplasma have been found to cause the disorder (summary by Chen et al., 2005; Shinohara et al., 2011).For a discussion of genetic heterogeneity of susceptibility to acute infection-induced encephalopathy, see {610551}.

Related symptoms:

  • Seizures
  • Fever
  • Edema
  • Encephalopathy
  • Coma


SOURCES: OMIM MENDELIAN

More info about ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4; IIAE4

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

Alzheimer disease is the most common form of progressive dementia in the elderly. It is a neurodegenerative disorder characterized by the neuropathologic findings of intracellular neurofibrillary tangles (NFT) and extracellular amyloid plaques that accumulate in vulnerable brain regions (Sennvik et al., 2000). Terry and Davies (1980) pointed out that the 'presenile' form, with onset before age 65, is identical to the most common form of late-onset or 'senile' dementia, and suggested the term 'senile dementia of the Alzheimer type' (SDAT).Haines (1991) reviewed the genetics of AD. Selkoe (1996) reviewed the pathophysiology, chromosomal loci, and pathogenetic mechanisms of Alzheimer disease. Theuns and Van Broeckhoven (2000) reviewed the transcriptional regulation of the genes involved in Alzheimer disease. Genetic Heterogeneity of Alzheimer DiseaseAlzheimer disease is a genetically heterogeneous disorder. See also AD2 (OMIM ), associated with the APOE*4 allele (OMIM ) on chromosome 19; AD3 (OMIM ), caused by mutation in the presenilin-1 gene (PSEN1 ) on 14q; and AD4 (OMIM ), caused by mutation in the PSEN2 gene (OMIM ) on 1q31.There is evidence for additional AD loci on other chromosomes; see AD5 (OMIM ) on 12p11, AD6 (OMIM ) on 10q24, AD7 (OMIM ) on 10p13, AD8 (OMIM ) on 20p, AD9 (OMIM ), associated with variation in the ABCA7 gene (OMIM ) on 19p13, AD10 (OMIM ) on 7q36, AD11 (OMIM ) on 9q22, AD12 (OMIM ) on 8p12-q22, AD13 (OMIM ) on 1q21, AD14 (OMIM ) on 1q25, AD15 (OMIM ) on 3q22-q24, AD16 (OMIM ) on Xq21.3, AD17 (OMIM ) on 6p21.2, and AD18 (OMIM ), associated with variation in the ADAM10 gene (OMIM ) on 15q21.Evidence also suggests that mitochondrial DNA polymorphisms may be risk factors in Alzheimer disease (OMIM ).Finally, there have been associations between AD and various polymorphisms in other genes, including alpha-2-macroglobulin (A2M; {103950.0005}), low density lipoprotein-related protein-1 (LRP1 ), the transferrin gene (TF ), the hemochromatosis gene (HFE ), the NOS3 gene (OMIM ), the vascular endothelial growth factor gene (VEGF ), the ABCA2 gene (OMIM ), and the TNF gene (OMIM ) (see MOLECULAR GENETICS).

ALZHEIMER DISEASE; AD Is also known as presenile and senile dementia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Spasticity
  • Cognitive impairment
  • Edema


SOURCES: OMIM MENDELIAN

More info about ALZHEIMER DISEASE; AD

Other less relevant matches:

KCNQ2-related epileptic encephalopathy is a severe form of neonatal epilepsy that usually manifests in newborns during the first week of life with seizures (that affect alternatively both sides of the body), often accompanied by clonic jerking or more complex motor behavior, as well as signs of encephalopathy such as diffuse hypotonia, limb spasticity, lack of visual fixation and tracking and mild to moderate intellectual deficiency. The severity can range from controlled to intractable seizures and mild/moderate to severe intellectual disability.

KCNQ2-RELATED EPILEPTIC ENCEPHALOPATHY Is also known as kcnq2-related neonatal epileptic encephalopathy|kcnq2-nee

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Muscular hypotonia
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about KCNQ2-RELATED EPILEPTIC ENCEPHALOPATHY

Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy (PEBEL) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions (summary by Kremer et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY; PEBEL

Medium chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD) is an inborn error of mitochondrial fatty acid oxidation characterized by a rapidly progressive metabolic crisis, often presenting as hypoketotic hypoglycemia, lethargy, vomiting, seizures and coma, which can be fatal in the absence of emergency medical intervention.

MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Is also known as medium chain acyl-coenzyme a dehydrogenase deficiency|mcadh deficiency|acadm deficiency|mcad deficiency|carnitine deficiency secondary to medium-chain acyl-coa dehydrogenase deficiency|mcadd

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.

CARBAMOYL-PHOSPHATE SYNTHETASE 1 DEFICIENCY Is also known as carbamoyl phosphate synthetase i deficiency|carbamoyl-phosphate synthetase deficiency|cps i deficiency|carbamoyl-phosphate synthetase i deficiency|cps1 deficiency|cps1d

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Failure to thrive


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CARBAMOYL-PHOSPHATE SYNTHETASE 1 DEFICIENCY

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

PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.

PEHO-LIKE SYNDROME Is also known as progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO-LIKE SYNDROME

Low match KAPOSI SARCOMA

Kaposi sarcoma (KS) is a rare human herpes virus 8 (HHV-8)-induced endothelial inflammatory neoplasm that develops is various clinically distinct settings, manifesting mostly as cutaneous lesions, or mucosal or visceral involvement.

KAPOSI SARCOMA Is also known as multiple idiopathic pigmented hemangiosarcoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM ORPHANET MENDELIAN

More info about KAPOSI SARCOMA

Top 5 symptoms//phenotypes associated to Edema and Encephalopathy

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Cerebral edema Common - Between 50% and 80% cases
Coma Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Brain atrophy Vomiting Ataxia Fever Muscular hypotonia Spasticity

Rare Symptoms - Less than 30% cases

Abnormality of the cerebral white matter Pneumonia Hypertonia Acute encephalopathy Hepatic steatosis Hypsarrhythmia Diarrhea Respiratory insufficiency Cerebral atrophy Hypoplasia of the corpus callosum Pallor Myoclonus Infantile encephalopathy Hyperammonemia Stroke Lethargy Optic atrophy Hyperreflexia Cerebellar atrophy Ventriculomegaly Short nose Absent speech Cerebellar hypoplasia Kyphoscoliosis Retrognathia Epicanthus Rigidity Motor delay Severe vision loss Polyneuropathy Tetraplegia Gliosis Spastic tetraplegia Hallucinations Foot dorsiflexor weakness Encephalitis Increased CSF protein Microcephaly Abnormal posturing Abducens palsy Polymicrogyria Abnormal muscle tone Necrotizing encephalopathy Polyneuritis Cough Acute necrotizing encephalopathy Neonatal hypotonia Severe muscular hypotonia Tapered finger Abnormality of the gastrointestinal tract Lymphedema Neoplasm of the skin Hemangioma Sarcoma Hypermelanotic macule Abnormal retinal morphology Macule Abnormality of the lower limb Pulmonary arterial hypertension Lymphoproliferative disorder Abnormality of the spleen Cellular immunodeficiency Skin nodule Venous insufficiency Generalized lymphadenopathy Skin plaque Susceptibility to herpesvirus Abnormal lung morphology Gastrointestinal hemorrhage Full cheeks Central hypotonia Sloping forehead Narrow forehead Intellectual disability, profound Status epilepticus Open mouth Pachygyria Progressive microcephaly Visual impairment Neoplasm Lymphoma Hypertension Fatigue Immunodeficiency Weight loss Abnormality of the liver Skin rash Papule Lymphadenopathy Gait disturbance Confusion Low plasma citrulline Abnormal globus pallidus morphology Inability to walk Epileptic encephalopathy Epileptic spasms Profound global developmental delay Facial erythema Generalized tonic seizures EEG with burst suppression Dystonia Poor gross motor coordination Nystagmus Strabismus Tremor Respiratory failure Developmental regression Lactic acidosis Apnea Feeding difficulties Tetraparesis Memory impairment Febrile seizures Cognitive impairment Dementia Aggressive behavior Mental deterioration Neurodegeneration Parkinsonism Neuronal loss in central nervous system Decreased level of GABA in serum Alzheimer disease Neurofibrillary tangles Lewy bodies Senile plaques Stroke-like episode Cerebral amyloid angiopathy Long-tract signs Increased serum lactate Progressive neurologic deterioration Episodic ammonia intoxication Aminoaciduria Muscle weakness Pain Abdominal pain Irritability Generalized tonic-clonic seizures Focal-onset seizure Generalized-onset seizure Focal impaired awareness seizure Medium chain dicarboxylic aciduria Diabetes insipidus Alkalosis Microvesicular hepatic steatosis Decerebrate rigidity Respiratory alkalosis Hypoargininemia Protein avoidance Failure to thrive Hypoglycemic coma Leukoencephalopathy Hepatomegaly Progressive encephalopathy Increased CSF lactate Myelopathy Vegetative state Skin erosion Encephalomalacia Cerebellar edema Respiratory distress Hyperglycinuria Hypoglycemia Elevated hepatic transaminase Metabolic acidosis Aciduria Decreased plasma carnitine Abnormality of the mitochondrion Dicarboxylic aciduria Neoplasm by anatomical site


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