Edema, and Gliosis

Diseases related with Edema and Gliosis

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

Top matches:

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

3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.

3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY Is also known as mcc1 deficiency|3-methylcrotonylglycinuria i|mccd|3-methylcrotonylglycinuria|methylcrotonylglycinuria type i|mccd type 1|mcc deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY

Other less relevant matches:

Ornithine transcarbamylase deficiency is an X-linked inborn error of metabolism of the urea cycle which causes hyperammonemia. The disorder is treatable with supplemental dietary arginine and low protein diet.Urea cycle disorders are characterized by the triad of hyperammonemia, encephalopathy, and respiratory alkalosis. Five disorders involving different defects in the biosynthesis of the enzymes of the urea cycle have been described: OTC deficiency, carbamyl phosphate synthetase deficiency (OMIM ), argininosuccinate synthetase deficiency, or citrullinemia (OMIM ), argininosuccinate lyase deficiency (OMIM ), and arginase deficiency (OMIM ).

ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO Is also known as ornithine carbamoyltransferase deficiency|otc deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO

Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.

RENAL COLOBOMA SYNDROME Is also known as renal-coloboma syndrome|congenital anomalies of the kidney and urinary tract with or without ocular abnormalities|optic coloboma, vesicoureteral reflux, and renal anomalies|papillo-renal syndrome|coloboma of optic nerve with renal disease|renal-coloboma s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RENAL COLOBOMA SYNDROME

Neurohypophyseal diabetes insipidus is an autosomal dominant disorder of free water conservation characterized by childhood onset of polyuria and polydipsia. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopression deficiency during childhood (summary by Wahlstrom et al., 2004).

DIABETES INSIPIDUS, NEUROHYPOPHYSEAL Is also known as diabetes insipidus, cranial type|diabetes insipidus, primary central|cdi

Related symptoms:

  • Intellectual disability
  • Seizures
  • Growth delay
  • Hypertelorism
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about DIABETES INSIPIDUS, NEUROHYPOPHYSEAL

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

Adams-Oliver syndrome-2 is an autosomal recessive multiple congenital anomaly syndrome characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects, in association with variable involvement of the brain, eyes, and cardiovascular systems (summary by Shaheen et al., 2011).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 2; AOS2

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). Genetic Heterogeneity of Tuberous SclerosisSee also tuberous sclerosis-2 (OMIM ), which is caused by mutation in the TSC2 gene (OMIM ) on chromosome 16p13.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).

TUBEROUS SCLEROSIS 1; TSC1 Is also known as tuberous sclerosis complex|ts|tuberose sclerosis|tsc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Pain
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about TUBEROUS SCLEROSIS 1; TSC1

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

Top 5 symptoms//phenotypes associated to Edema and Gliosis

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Irritability Common - Between 50% and 80% cases
Vomiting Common - Between 50% and 80% cases
Coma Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Generalized hypotonia Spasticity Failure to thrive Stroke Growth delay Encephalopathy Fever Confusion Ataxia Retinal detachment Cerebral palsy Aciduria Neoplasm Headache Hydrocephalus Muscular hypotonia Dilatation Lethargy Tetraplegia Visual impairment Encephalitis Hypertonia

Rare Symptoms - Less than 30% cases

Cerebral edema Cerebral atrophy Macrocephaly Hyperammonemia Opisthotonus Ketonuria Abnormality of the kidney Depressed nasal bridge Epicanthus Skin rash Diarrhea Glaucoma Abnormality of the nervous system Cough Abnormal heart morphology Microphthalmia Renal insufficiency Carcinoma Gait disturbance Vertigo Hepatic failure Hypertension Hepatomegaly Strabismus Dehydration Focal-onset seizure Rigidity Brain atrophy Feeding difficulties in infancy Acute encephalopathy Abnormality of the cerebral white matter Polyneuritis Increased CSF protein Severe vision loss Feeding difficulties Dystonia Respiratory failure Acidosis Metabolic acidosis Hypoglycemia Hemiplegia Hypertelorism Histiocytosis Nausea Abnormality of movement Renal cyst Corpus callosum atrophy Periventricular leukomalacia Sleep disturbance Aplasia cutis congenita of scalp Retinal fold Retrocerebellar cyst High-pitched cry Attention deficit hyperactivity disorder Autism Autistic behavior Hyperactivity Arrhythmia Congestive heart failure Respiratory distress Intellectual disability, mild Nevus Pain Retinal nonattachment Adactyly Cutis marmorata telangiectatica congenita Behavioral abnormality Generalized-onset seizure Intellectual disability, moderate Specific learning disability Hypopigmentation of the skin Hypothyroidism Aplasia cutis congenita Chest pain Dyspnea Cerebral calcification Muscular hypotonia of the trunk Short finger Micrognathia Hypoplasia of the corpus callosum Ventriculomegaly Optic atrophy Intrauterine growth retardation Brachydactyly Delayed speech and language development Flexion contracture Low-set ears Microcephaly Depressivity Abnormal natural killer cell physiology Lipogranulomatosis Plasmacytosis CSF pleocytosis Hypofibrinogenemia Increased VLDL cholesterol concentration T-cell lymphoma Granulocytopenia Increased total bilirubin Syndactyly Alopecia Cutis marmorata Single transverse palmar crease Dermal atrophy Narrow palpebral fissure Low anterior hairline Lymphedema Wide anterior fontanel Blue sclerae Small nail Oligohydramnios Wide intermamillary distance Short foot Cerebellar hypoplasia Short distal phalanx of finger Bulbous nose Polymicrogyria Congenital cataract Protruding ear Heterotopia Deeply set eye Posteriorly rotated ears Agenesis of corpus callosum Cardiomegaly Premature chromatid separation Subcutaneous nodule Neurological speech impairment Abnormality of extrapyramidal motor function Neuronal loss in central nervous system Migraine Delayed myelination Abnormal cerebellum morphology Dyskinesia Inability to walk Abnormality of eye movement Paralysis Large fontanelles Respiratory tract infection Developmental regression Hyperhidrosis Prominent forehead Dementia Myopathy Cardiomyopathy Dysphagia Tremor Choreoathetosis Exercise intolerance Cognitive impairment Dilation of lateral ventricles Ketonemia Symmetrical progressive peripheral demyelination Macrocephaly at birth Glutaric acidemia Glutaric aciduria Retinal hemorrhage Infantile encephalopathy Fasting hypoglycemia Decreased plasma carnitine Abnormality of the retinal vasculature Joint dislocation Cerebral ischemia Generalized dystonia Malignant hyperthermia Bulbar palsy Malnutrition Spastic diplegia Intracranial hemorrhage Hyperkinesis Leukoencephalopathy Motor delay Abnormal facial shape Hypoplasia of dental enamel Hyperventilation Astrocytoma Brain neoplasm Wolff-Parkinson-White syndrome White hair Renal neoplasm Generalized hypopigmentation Abnormality of the respiratory system Skin tags Renal cell carcinoma Gingival fibromatosis Hamartoma Infantile spasms Nephroblastoma Aortic aneurysm Precocious puberty Polycystic kidney dysplasia CNS hypomyelination Tachypnea Cafe-au-lait spot Pneumothorax Chylothorax Projection of scalp hair onto lateral cheek Dental enamel pits Achromatic retinal patches Subungual fibromas Rhabdomyoma Connective tissue nevi Pulmonary lymphangiomyomatosis Chordoma Cortical tubers Cardiac rhabdomyoma Ungual fibroma Hypomelanotic macule Fibroma Subependymal nodules Optic nerve glioma Angiofibromas Renal angiomyolipoma Increased LDL cholesterol concentration Ependymoma Shagreen patch Flank pain Adenoma sebaceum Partial albinism Abnormality of the liver Hemophagocytosis Hyperglutaminemia Myopia Cataract Sensorineural hearing impairment Nystagmus Hearing impairment Short stature Low plasma citrulline Episodic ammonia intoxication Protein avoidance Hydronephrosis Hypoargininemia Respiratory alkalosis Oroticaciduria Paranoia Wide nasal base Episodic vomiting Episodic ataxia Alkalosis Reduced visual acuity Proteinuria Pancreatitis Nephrolithiasis Visual field defect Nephritis Hyperextensible skin Chronic kidney disease Abnormality of the genitourinary system Macular degeneration Multicystic kidney dysplasia Horseshoe kidney Renal dysplasia Joint laxity Abnormality of the genital system Renal hypoplasia Progressive visual loss Vesicoureteral reflux Nephropathy Stage 5 chronic kidney disease Joint hyperflexibility Coloboma Acute hepatic failure Thick lower lip vermilion Arnold-Chiari type I malformation Necrotizing encephalopathy Intellectual disability, profound Severe global developmental delay Apnea Gastroesophageal reflux Areflexia Respiratory insufficiency Hyperreflexia Acute necrotizing encephalopathy Abnormal muscle tone Involuntary movements Abducens palsy Abnormal posturing Foot dorsiflexor weakness Hallucinations Spastic tetraplegia Polyneuropathy Pallor Pneumonia Hemiparesis Leukodystrophy Postaxial polydactyly Abnormality of leucine metabolism Smooth philtrum Mental deterioration Thin upper lip vermilion Polydactyly Hypospadias Abnormality of cardiovascular system morphology Anteverted nares Peripheral neuropathy Acute hyperammonemia Failure to thrive in infancy Episodic metabolic acidosis Acute hepatic steatosis Neutrophilia Organic aciduria Abnormality of the cerebral vasculature Ketoacidosis Drowsiness Poor appetite Chorioretinal atrophy Soft skin Cellular immunodeficiency Leukemia Aspiration Hypertriglyceridemia Pancytopenia Peripheral demyelination Lymphoma Sepsis Hemolytic anemia Lymphadenopathy Elevated hepatic transaminase Hyperbilirubinemia Hepatosplenomegaly Jaundice Thrombocytopenia Recurrent infections Immunodeficiency Splenomegaly Anemia Germinoma Meningitis Purpura Hypertonic dehydration Severe combined immunodeficiency Prolonged prothrombin time Decreased HDL cholesterol concentration Generalized edema Prolonged partial thromboplastin time Hypoproteinemia Acute leukemia Increased serum ferritin Pulmonary infiltrates Episodic fever Leukopenia Increased antibody level in blood Combined immunodeficiency Abnormality of the coagulation cascade Albinism Hyponatremia Hypoalbuminemia Eosinophilia Increased intracranial pressure Abnormality of the anterior pituitary Nocturia Abnormality of the vasculature Lens luxation Macular hyperpigmentation Orbital cyst Morning glory anomaly Renal malrotation Scleral staphyloma Optic nerve dysplasia Mild proteinuria Bilateral renal hypoplasia Platybasia Ureterovesical junction obstruction Pyelonephritis Ureteropelvic junction obstruction High-frequency hearing impairment Retinal coloboma Optic nerve coloboma Hydrocele testis Elevated serum creatinine Multiple renal cysts Recurrent pyelonephritis Fatigue Pollakisuria Syncope Central diabetes insipidus Enuresis Orthostatic hypotension Diabetes insipidus Polyuria Polydipsia Hypotension Growth hormone deficiency Wide nose Short nose Dry skin Autoimmunity Osteopenia Weight loss Diabetes mellitus Osteoporosis Constipation Abnormality of metabolism/homeostasis Long philtrum Subdural hemorrhage


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