Edema, and Neuronal loss in central nervous system

Diseases related with Edema and Neuronal loss in central nervous system

In the following list you will find some of the most common rare diseases related to Edema and Neuronal loss in central nervous system that can help you solving undiagnosed cases.

Top matches:

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

DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA Is also known as hrs|ataxia, chorea, seizures, and dementia|haw river syndrome|nod|naito-oyanagi disease|myoclonic epilepsy with choreoathetosis

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY; DRPLA

Other less relevant matches:

Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.

AUTOSOMAL DOMINANT CEREBELLAR ATAXIA-DEAFNESS-NARCOLEPSY SYNDROME Is also known as adca-dn syndrome

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CEREBELLAR ATAXIA-DEAFNESS-NARCOLEPSY SYNDROME

Medium match PEHO SYNDROME

PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.

PEHO SYNDROME Is also known as progressive encephalopathy-optic atrophy syndrome|progressive encephalopathy with edema, hypsarrhythmia and optic atrophy|progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy|infantile cerebellooptic atrophy

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO SYNDROME

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

Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).

ASPARTYLGLUCOSAMINURIA; AGU Is also known as glycoasparaginase|aga deficiency|aspartylglucosaminidase deficiency|aspartylglycosaminuria|glycosylasparaginase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA; AGU

Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).

YUNIS-VARON SYNDROME Is also known as cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|cleidocranial dysplasia-micrognathia-absent thumbs syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about YUNIS-VARON SYNDROME

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

Related symptoms:

  • Dementia
  • Pallor
  • Neuronal loss in central nervous system
  • Amyotrophic lateral sclerosis


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 23; ALS23

Top 5 symptoms//phenotypes associated to Edema and Neuronal loss in central nervous system

Symptoms // Phenotype % cases
Dementia Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
Cerebral atrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Neuronal loss in central nervous system. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Seizures Intellectual disability Global developmental delay Generalized hypotonia Abnormal facial shape Mental deterioration Myoclonus Feeding difficulties Microcephaly Anteverted nares Cardiomyopathy Hyperreflexia Cataract Hearing impairment Gait disturbance Hepatomegaly Cerebellar atrophy Muscular hypotonia Nystagmus Encephalopathy

Rare Symptoms - Less than 30% cases

Ventriculomegaly Large fontanelles Blindness Intellectual disability, severe Hydrocephalus Hypoplasia of the corpus callosum Stroke Brain atrophy Cerebellar hypoplasia Memory impairment Dysarthria Atrophy/Degeneration affecting the brainstem Psychosis Failure to thrive Tremor Visual loss Macrotia Recurrent respiratory infections Developmental regression Motor delay Infantile encephalopathy Macrocephaly Aggressive behavior Palpebral edema Tented upper lip vermilion Irritability Hydrops fetalis Gingival overgrowth Pachygyria Tapered finger Abnormality of movement Abnormality of eye movement Gliosis Feeding difficulties in infancy Optic atrophy Abnormality of the cerebral white matter Babinski sign Rigidity Personality changes Abnormality of the skeletal system Involuntary movements Depressed nasal bridge Choreoathetosis Delayed myelination Amyotrophic lateral sclerosis Emotional lability Chorea Primitive reflex Dysphagia High forehead Short stature Generalized myoclonic seizures Cerebral cortical atrophy Dilatation Polyhydramnios Abnormality of the pinna Pathologic fracture Hypertrophic cardiomyopathy Muscle fibrillation Thin upper lip vermilion Proptosis Thickened calvaria Protruding ear Dysostosis multiplex Hoarse voice Postnatal growth retardation Cranial asymmetry Sparse hair Thin vermilion border Intellectual disability, progressive Hypodontia Widely spaced teeth Hypopigmentation of the skin Single transverse palmar crease High, narrow palate Toe syndactyly Abnormal cardiac septum morphology Hypotrichosis Dolichocephaly Severe global developmental delay Acne Hip dislocation Beaking of vertebral bodies Short philtrum Microtia Micropenis Macroorchidism Aspartylglucosaminuria Cryptorchidism Facial edema Micrognathia Hypertelorism Growth delay Mitral regurgitation Adenoma sebaceum Angiofibromas High palate Oligosacchariduria Hypoplastic frontal sinuses Chronic diarrhea Spondylolysis Angiokeratoma corporis diffusum Aspiration Methemoglobinemia Low-set ears Hypertension Narrow mouth Abnormal heart morphology Angiokeratoma Upslanted palpebral fissure Broad face Spondylolisthesis Abnormality of the ovary Agenesis of corpus callosum Overgrowth Thick lower lip vermilion Intrauterine growth retardation Visceromegaly Vacuolated lymphocytes Progressive neurologic deterioration Hypospadias Microphthalmia Syndactyly Atrial septal defect Ventricular septal defect Respiratory distress Anonychia Premature birth Generalized neonatal hypotonia Hypoplastic facial bones Aplasia/Hypoplasia of the nails Aplasia/Hypoplasia of the distal phalanges of the hand Renal artery stenosis Renovascular hypertension Hypoplasia of the frontal lobes Multiple skeletal anomalies Aplasia/Hypoplasia of the middle phalanges of the hand Short upper lip Gingival recession Increased nuchal translucency Wide cranial sutures Arrhinencephaly Congenital microcephaly Aplastic clavicle Small earlobe Bilateral microphthalmos Premature loss of primary teeth Aplasia/Hypoplasia of the clavicles Abnormality of the scapula Aplasia/Hypoplasia of the nipples Abnormal parietal bone morphology Aplasia of the distal phalanx of the hallux Aplasia/hypoplasia of the 1st metatarsal Aplasia of the distal phalanges of the hand Aplasia/Hypoplasia of the proximal phalanx of the hallux Narrow nasal base Aplasia/Hypoplasia of the scapulae Abnormality of dental structure Abnormality of the occipital bone Tapered toe Generalized hypotrichosis Abnormal pelvis bone morphology Short proximal phalanx of hallux Shortening of all distal phalanges of the toes Aplasia of the 1st metacarpal Slender long bones with narrow diaphyses Aplasia/Hypoplasia of the hallux Bilateral external ear deformity Absent sternal ossification Broad secondary alveolar ridge Absent nipple Redundant neck skin Dandy-Walker malformation Short ribs Abnormality of dental morphology Clitoral hypertrophy Sparse eyebrow Pyloric stenosis Abnormality of the urinary system Abnormality of pelvic girdle bone morphology Sparse eyelashes Short chin Short toe Rocker bottom foot Sparse and thin eyebrow Short thumb Short phalanx of finger Sparse scalp hair Small nail Cerebellar vermis hypoplasia Pulmonary arterial hypertension Cardiomegaly Tetralogy of Fallot Absent eyebrow Short middle phalanx of finger Abnormality of the neck Short clavicles Decreased skull ossification Hypoplastic scapulae Hypoplastic labia majora Abnormality of finger Sclerocornea Severe failure to thrive Glossoptosis Inverted nipples Aplasia/Hypoplasia of the thumb Metatarsus adductus Abnormality of blood and blood-forming tissues Thin ribs Severe hearing impairment Abnormality of digit Absent thumb Short finger Aplasia/Hypoplasia of the eyebrow Ascites Flared metaphysis Macroglossia Decreased plasma carnitine Neutropenia Predominantly lower limb lymphedema Absent speech Midface retrusion Malar flattening Short nose Epicanthus Flexion contracture Dilated third ventricle Pseudobulbar signs EEG abnormality Cataplexy Narcolepsy Excessive daytime sleepiness Abnormality of the cerebrospinal fluid Head tremor Resting tremor Abnormality of mitochondrial metabolism Retrognathia Abnormality of the eye Urinary incontinence Abnormal palate morphology Progressive encephalopathy External ear malformation Epileptic spasms Drowsiness Biparietal narrowing Infantile spasms Infantile muscular hypotonia Severe muscular hypotonia Arthrogryposis multiplex congenita Progressive microcephaly Open mouth Intellectual disability, profound Hypsarrhythmia Narrow forehead Limitation of joint mobility Full cheeks Polymicrogyria Lymphedema Progressive cerebellar ataxia Developmental stagnation Decreased level of GABA in serum Respiratory insufficiency Skeletal muscle atrophy Fetal cystic hygroma Atrophy of the dentate nucleus Basal ganglia calcification Peripheral demyelination Abnormal pyramidal sign Long-tract signs Stereotypy Cerebral amyloid angiopathy Stroke-like episode Senile plaques Lewy bodies Neurofibrillary tangles Alzheimer disease Parkinsonism Neurodegeneration Congestive heart failure Respiratory insufficiency due to muscle weakness Polyneuropathy Bulimia Sensory neuropathy Abnormality of the nervous system Diabetes mellitus Depressivity Peripheral neuropathy Sensorineural hearing impairment Semantic dementia Perseveration Apathy Disinhibition Pulmonary edema Supranuclear gaze palsy Abnormal lower motor neuron morphology Frontotemporal dementia Insomnia Global brain atrophy Agitation Edema of the lower limbs Periventricular leukomalacia Wide nose Glutaric acidemia Short neck Delayed speech and language development Scoliosis Subdural hemorrhage Ketonemia Symmetrical progressive peripheral demyelination Macrocephaly at birth Glutaric aciduria Behavioral abnormality Retinal hemorrhage Acute encephalopathy Fasting hypoglycemia Dilation of lateral ventricles Abnormality of the retinal vasculature Cerebral ischemia Ketonuria Diarrhea Splenomegaly Malignant hyperthermia Coarse facial features Platyspondyly Nyctalopia Wide mouth Erythema Joint laxity Hydronephrosis Hepatosplenomegaly Gait ataxia Kyphosis Hyperactivity Brachycephaly Delayed skeletal maturation Inguinal hernia Hernia Abnormality of metabolism/homeostasis Recurrent infections Long philtrum Generalized dystonia Bulbar palsy Porencephalic cyst Dystonia Paralysis Respiratory tract infection Hypoglycemia Acidosis Hyperhidrosis Prominent forehead Headache Vomiting Vertigo Myopathy Fever Undetectable visual evoked potentials Peripheral dysmyelination Edema of the dorsum of feet Edema of the dorsum of hands Abnormality of upper lip Peripheral edema Neurological speech impairment Inability to walk Opisthotonus Cerebral palsy Malnutrition Spastic diplegia Intracranial hemorrhage Hemiplegia Encephalitis Hyperkinesis Leukoencephalopathy Joint dislocation Dyskinesia Exercise intolerance Abnormality of extrapyramidal motor function Dehydration Aciduria Migraine Abnormal cerebellum morphology Coma Metabolic acidosis Pallor


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