Edema, and Dementia

Diseases related with Edema and Dementia

In the following list you will find some of the most common rare diseases related to Edema and Dementia 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

A congenital disease caused by an inborn error involving APOLIPOPROTEINS E leading to abnormal LIPID METABOLISM and the accumulation of GLYCOSPHINGOLIPIDS, particularly SPHINGOMYELINS in the HISTIOCYTES. This disorder is characterized by SPLENOMEGALY and the sea-blue histiocytes in the spleen and bone marrow after May Grunwald staining.

SEA-BLUE HISTIOCYTOSIS Is also known as sea-blue histiocytosis|histiocytosis, sea-blue

Related symptoms:

  • Seizures
  • Ataxia
  • Peripheral neuropathy
  • Hepatomegaly
  • Gait disturbance


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SEA-BLUE HISTIOCYTOSIS

Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.

RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS Is also known as retinopathy, vascular, with cerebral and renal involvement and raynaud and migraine phenomena|cerebroretinal vasculopathy, hereditary|crv|retinal vasculopathy and cerebral leukoencephalopathy|rvcl|rvcl-s

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Visual impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS

Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic DystrophySee also myotonic dystrophy-2 (DM2 ), which is caused by mutation in the ZNF9 gene (OMIM ) on chromosome 3q21.

MYOTONIC DYSTROPHY 1; DM1 Is also known as dystrophia myotonica 1|dystrophia myotonica|steinert disease|dm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 1; DM1

X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency.

X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY Is also known as siemerling-creutzfeldt disease|addison disease and cerebral sclerosis|bronze schilder disease|melanodermic leukodystrophy

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY

Sialidosis is an autosomal recessive disorder characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by a deficiency of the enzyme neuraminidase. Common to the sialidoses is the accumulation and/or excretion of sialic acid (N-acetylneuraminic acid) covalently linked ('bound') to a variety of oligosaccharides and/or glycoproteins (summary by Lowden and O'Brien, 1979). The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' sialic acid, rather than 'bound' sialic acid; neuraminidase activity in sialuria is normal or elevated. Salla disease (OMIM ) is a form of 'free' sialic acid disease. ClassificationLowden and O'Brien (1979) provided a logical nosology of neuraminidase deficiency into sialidosis type I and type II. Type I is the milder form, also known as the 'normosomatic' type or the cherry red spot-myoclonus syndrome. Sialidosis type II is the more severe form with an earlier onset, and is also known as the 'dysmorphic' type. Type II has been subdivided into juvenile and infantile forms. Other terms for sialidosis type II are mucolipidosis I and lipomucopolysaccharidosis.

NEURAMINIDASE DEFICIENCY Is also known as neug deficiency|neuraminidase 1 deficiency|glycoprotein neuraminidase deficiency|neu1 deficiency|mucolipidosis i|neu deficiency|lipomucopolysaccharidosis|sialidase deficiency|ml i|sialidosis, type ii

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURAMINIDASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Edema and Dementia

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Mental deterioration Common - Between 50% and 80% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Cerebral atrophy Neuronal loss in central nervous system Skeletal muscle atrophy Personality changes Hearing impairment Cataract Hyperreflexia Visual loss Dysarthria Nystagmus Intellectual disability Visual impairment Memory impairment Myoclonus Neurodegeneration Stroke

Rare Symptoms - Less than 30% cases

Cirrhosis Abnormality of the nervous system Retinopathy Progressive visual loss Hepatosplenomegaly Thrombocytopenia Slurred speech Abnormality of mitochondrial metabolism Splenomegaly Hepatomegaly Primitive reflex Hemiparesis Polyneuropathy Excessive daytime sleepiness Sensorineural hearing impairment Abnormality of the cerebral white matter Narcolepsy Psychosis Urinary incontinence Blindness Sensory neuropathy Tremor Progressive cerebellar ataxia Emotional lability Gait disturbance Leukodystrophy Choreoathetosis Encephalopathy Aggressive behavior Brain atrophy Alzheimer disease Neurofibrillary tangles Pain Behavioral abnormality Hydrops fetalis Hypogonadism Cerebellar atrophy Dilatation Reduced visual acuity Chorea Peripheral demyelination Muscular hypotonia Generalized hypotonia Cerebral cortical atrophy Proteinuria Hyperpigmentation of the skin Lower limb muscle weakness Babinski sign Muscle weakness Dysphagia Paralysis Paraparesis Paraplegia EEG abnormality Attention deficit hyperactivity disorder Truncal ataxia Hypotension Spastic paraplegia Limb ataxia Retinal dystrophy Abnormal cerebellum morphology First degree atrioventricular block Gait ataxia Centrally nucleated skeletal muscle fibers Mitral valve prolapse Decreased fetal movement Atrial fibrillation Progressive muscle weakness Insulin resistance Cardiac arrest Spontaneous abortion Intellectual disability, progressive Ventricular tachycardia Atrioventricular block Cholelithiasis Myotonia Thin ribs Abnormal EKG Hyperactivity Heart block Facial diplegia Nonimmune hydrops fetalis Atrial flutter Testicular atrophy Frontal balding Obsessive-compulsive trait Percussion myotonia Ring fibers Abnormality of the skeletal system Ventricular septal defect Immunodeficiency Pneumonia Spastic paraparesis Mania Incoordination Cardiomegaly Inguinal hernia Dyspnea Osteopenia Skeletal dysplasia Coarse facial features Pectus carinatum Corneal opacity Abnormality of movement Dysmetria Falls Ascites Waddling gait Laryngomalacia Kyphosis Hyperactive deep tendon reflexes Epiphyseal stippling Syringomyelia Hand tremor Thoracic kyphosis Barrel-shaped chest Dysostosis multiplex Foam cells Vacuolated lymphocytes Facial edema Cherry red spot of the macula Bone-marrow foam cells Increased urinary O-linked sialopeptides Hernia Cardiomyopathy Adrenal insufficiency Cerebral edema Impotence Abnormality of color vision Bowel incontinence Axonal degeneration Bulbar palsy Primary adrenal insufficiency Loss of speech Urinary bladder sphincter dysfunction Adrenal hypoplasia Dyschromatopsia Tubular atrophy Achalasia Spinocerebellar tract degeneration Vegetative state Flexion contracture Myelopathy Decreased circulating aldosterone level Progressive spastic paraparesis Tachycardia Psychotic episodes Monochromacy Blue cone monochromacy Elevated long chain fatty acids Cone monochromacy Global developmental delay Short stature Scoliosis Failure to thrive Premature birth Abnormality of the periventricular white matter Unsteady gait Head tremor Disinhibition Perseveration Bulimia Semantic dementia Optic atrophy Depressivity Diabetes mellitus Lymphedema Resting tremor Atrophy/Degeneration affecting the brainstem Abnormality of the cerebrospinal fluid Supranuclear gaze palsy Cataplexy Pseudobulbar signs Predominantly lower limb lymphedema Dilated third ventricle Abnormality of the eye Leukemia Hypopigmentation of the skin Abnormal bleeding Hypertriglyceridemia Subcutaneous nodule Cafe-au-lait spot Pulmonary edema Abnormal lower motor neuron morphology Petechiae Basal ganglia calcification Parkinsonism Lewy bodies Senile plaques Stroke-like episode Cerebral amyloid angiopathy Long-tract signs Decreased level of GABA in serum Abnormal pyramidal sign Generalized myoclonic seizures Delayed myelination Involuntary movements Atrophy of the dentate nucleus Frontotemporal dementia Fetal cystic hygroma Respiratory insufficiency Congestive heart failure Rigidity Stereotypy Respiratory insufficiency due to muscle weakness Apathy Amyotrophic lateral sclerosis Agitation Global brain atrophy Insomnia Purpura Autoimmune thrombocytopenia Talipes Ptosis Abnormality of the retinal vasculature Micronodular cirrhosis Retinal hemorrhage Limb pain Central nervous system degeneration Retinal exudate Vasculitis in the skin Focal white matter lesions Progressive forgetfulness Diminished ability to concentrate Punctate vasculitis skin lesions Delayed speech and language development Macular edema Motor delay Respiratory distress Intellectual disability, severe Myopathy Arrhythmia Respiratory failure Polyhydramnios Neonatal hypotonia Myalgia Feeding difficulties in infancy Muscular dystrophy Brain neoplasm Raynaud phenomenon Blepharitis Nephropathy Pulmonary infiltrates Histiocytosis Mucopolysacchariduria Chronic myelogenous leukemia Mediastinal lymphadenopathy Absent axillary hair Elevated serum acid phosphatase Sea-blue histiocytosis Neoplasm Headache Elevated hepatic transaminase Hematuria Chronic sinusitis Sensory impairment Migraine Apraxia Telangiectasia Sinusitis Vasculitis Leukoencephalopathy Elevated erythrocyte sedimentation rate Lower limb hyperreflexia Glomerulopathy Aseptic necrosis Urinary excretion of sialylated oligosaccharides


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