Edema, and Parkinsonism

Diseases related with Edema and Parkinsonism

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

Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).PEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes (Lamantea et al., 2002). Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA DeletionsSee also PEOA2 (OMIM ), caused by mutation in the ANT1 gene (SLC25A4 ) on chromosome 4q34; PEOA3 (OMIM ), caused by mutation in the twinkle gene (C10ORF2 ) on chromosome 10q24; PEOA4 (OMIM ), caused by mutation in the POLG2 gene (OMIM ) on chromosome 17q; PEOA5 (OMIM ), caused by mutation in the RRM2B gene (OMIM ) on chromosome 8q23; and PEOA6 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q.

AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as progressive external ophthalmoplegia, autosomal dominant 1|adpeo

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Other less relevant matches:

Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1 Is also known as schindler disease type 1|naga deficiency type 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1

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

NDMSBA is an autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profound mental retardation and severely impaired or absent motor function. More variable features include seizures and optic atrophy. Brain imaging may show myelinating abnormalities and white matter lesions consistent with a leukoencephalopathy, as well as structural anomalies, including thin corpus callosum, gyral abnormalities, and cerebral or cerebellar atrophy. Some patients die in early childhood (summary by Falik Zaccai et al., 2017 and Hall et al., 2017).

PLAA-ASSOCIATED NEURODEVELOPMENTAL DISORDER Is also known as plaand

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PLAA-ASSOCIATED NEURODEVELOPMENTAL DISORDER

Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.

CONGENITAL MUSCULAR DYSTROPHY TYPE 1A Is also known as muscular dystrophy, congenital merosin-deficient|cmd1a|merosin-negative congenital muscular dystrophy|mdc1a|congenital muscular dystrophy due to laminin alpha2 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY TYPE 1A

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

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Top 5 symptoms//phenotypes associated to Edema and Parkinsonism

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases
Abnormality of extrapyramidal motor function Common - Between 50% and 80% cases
Spasticity Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Global developmental delay Gait disturbance Peripheral neuropathy Ataxia Rigidity Sensory neuropathy Dysphagia Failure to thrive Hepatomegaly Abnormality of eye movement Abnormality of movement Developmental regression Bradykinesia Motor delay Cerebellar atrophy Arrhythmia Respiratory insufficiency Tremor Skeletal muscle atrophy Muscle weakness Scoliosis Strabismus Mental deterioration Muscular hypotonia Dementia Myoclonus Hearing impairment Nystagmus

Rare Symptoms - Less than 30% cases

Pulmonary arterial hypertension Diabetes mellitus Feeding difficulties Intellectual disability, severe Dehydration High palate Flexion contracture Ophthalmoplegia Choreoathetosis Facial palsy Gastroesophageal reflux Acidosis Hypothyroidism Osteoporosis Hypogonadism Migraine Elevated serum creatine phosphokinase Delayed puberty Depressivity Hypertonia Myopathy Vertigo Fatigue Dysarthria Cardiomyopathy Sensorineural hearing impairment Abnormality of metabolism/homeostasis Coma Amenorrhea Decreased body weight Hypomimic face Bulbar palsy Neurological speech impairment Poor suck Feeding difficulties in infancy Paralysis Abnormality of the cerebral white matter Inability to walk Kyphosis Diarrhea Leukoencephalopathy Hypersplenism Reduced ejection fraction Bipolar affective disorder Delayed speech and language development Exertional dyspnea Delayed myelination Hypokinesia Hyperhidrosis Premature ovarian insufficiency Dystonia Ventriculomegaly Exercise intolerance Hypergonadotropic hypogonadism Sensorimotor neuropathy Cerebral visual impairment Dilatation Primary amenorrhea Progressive muscle weakness Optic atrophy Fever Stroke Leukopenia Splenomegaly Visual impairment Abnormality of the eye Anemia Sensory axonal neuropathy Resting tremor Paresthesia Thrombocytopenia Neuronal loss in central nervous system Areflexia Gingival bleeding Brain atrophy Neurodegeneration Lymphadenopathy Bruising susceptibility Encephalopathy Peripheral axonal neuropathy Recurrent respiratory infections Hepatosplenomegaly Epistaxis Pancytopenia Hyporeflexia Abnormal bleeding Respiratory failure Decreased serum testosterone level Cerebellar hypoplasia Contractures of the large joints Exaggerated startle response Heart block Respiratory distress Anodontia Progressive leukoencephalopathy Kyphoscoliosis Hyperreflexia Hip dislocation Neonatal hypotonia Open mouth Respiratory insufficiency due to muscle weakness Lissencephaly Absence seizures Congenital hip dislocation Aspiration Heterotopia Pachygyria Aplasia/Hypoplasia of the eyebrow Focal-onset seizure Intellectual disability, moderate Macroglossia Polymicrogyria Hypoplasia of the uterus Muscular dystrophy Central hypotonia Autoimmune thrombocytopenia Hyperlordosis Insulin-resistant diabetes mellitus Central apnea Abnormal spermatogenesis Decreased serum estradiol Abnormality of brainstem morphology Posteriorly rotated ears Pneumonia Long philtrum Short nose Hypoplasia of the corpus callosum Progressive extrapyramidal movement disorder Low-set ears Micrognathia Microcephaly Telangiectasia of the skin Cerebral cortical atrophy Generalized amyotrophy Hemiplegia/hemiparesis Aplasia/Hypoplasia of the cerebellum Lymphedema Telangiectasia Hypoplasia of the fallopian tube Abnormal pyramidal sign Hypertrophic cardiomyopathy Autism Decreased serum insulin-like growth factor 1 Polydactyly Progressive spasticity Tetraparesis Long fingers Abnormal T-wave Rocker bottom foot Limb-girdle muscular dystrophy Tented upper lip vermilion Increased thyroid-stimulating hormone level Spastic tetraparesis Progressive microcephaly Hypertrichosis Hypsarrhythmia Muscular hypotonia of the trunk Intellectual disability, profound Streak ovary Single transverse palmar crease Postaxial polydactyly Hirsutism Smooth philtrum Severe global developmental delay Pectus carinatum Apnea Focal impaired awareness seizure Recurrent lower respiratory tract infections Congenital muscular dystrophy Polyneuropathy Camptodactyly Protruding ear Sparse hair Prominent nasal bridge Opisthotonus Malnutrition Arthrogryposis multiplex congenita Hypotrichosis Spastic diplegia Triangular face Micropenis Prominent nose Intracranial hemorrhage Hemiplegia Encephalitis Hyperkinesis Dental malocclusion Cerebral palsy Joint dislocation Large fontanelles High forehead Alopecia Bilateral sensorineural hearing impairment Acute encephalopathy Subdural hemorrhage Ketonemia Symmetrical progressive peripheral demyelination Macrocephaly at birth Downslanted palpebral fissures Glutaric acidemia Glutaric aciduria Retinal hemorrhage Infantile encephalopathy Fasting hypoglycemia Malignant hyperthermia Decreased plasma carnitine Dilation of lateral ventricles Abnormality of the retinal vasculature Cerebral ischemia Ketonuria Frontal bossing Intellectual disability, mild Babinski sign Generalized dystonia Decreased testicular size Psychosis Myopathic facies Astrocytosis Hyperlipidemia Increased endomysial connective tissue Impaired mastication Pontocerebellar atrophy Diffuse white matter abnormalities Sparse eyebrow Muscle fiber atrophy Increased connective tissue Cerebral edema Atelectasis Hypointensity of cerebral white matter on MRI Flat occiput Abnormal cortical gyration Myositis Hypertelorism Abnormality of visual evoked potentials Hypoventilation Abnormality of the periventricular white matter Protruding tongue Weak cry Inferior vermis hypoplasia Abnormality of the temporomandibular joint Gliosis Sparse scalp hair Abnormal cerebellum morphology Fine hair Metabolic acidosis Myocardial infarction Dyskinesia Respiratory tract infection Irritability Hypoglycemia Prominent forehead Hallucinations Intercostal muscle weakness Headache Hypogonadotrophic hypogonadism Vomiting Macrocephaly Abnormal facial shape Highly elevated creatine phosphokinase Absent muscle fiber merosin Purpura Abnormal brainstem MRI signal intensity Aciduria Spastic paraparesis Hyperkeratosis Cataract Abnormality of the liver Anxiety Myalgia Proximal muscle weakness Elevated hepatic transaminase Gait ataxia Pes cavus Constipation Ptosis Generalized hypopigmentation of hair Dilated cardiomyopathy Recurrent systemic pyogenic infections Abnormality of multiple cell lineages in the bone marrow Giant melanosomes in melanocytes Recurrent cutaneous abscess formation Abnormal leukocyte morphology Hypofibrinogenemia Oculogyric crisis Recurrent bacterial skin infections Macular hypoplasia Partial albinism Retinopathy Lethargy Hemophagocytosis EMG: myopathic abnormalities Difficulty climbing stairs Glucose intolerance Increased variability in muscle fiber diameter Ophthalmoparesis Abnormality of mitochondrial metabolism Dysphonia Easy fatigability Goiter Ventricular arrhythmia Ragged-red muscle fibers Congenital cataract External ophthalmoplegia Left ventricular hypertrophy Frequent falls Palpitations Atrial fibrillation Pigmentary retinopathy Increased serum lactate Muscle cramps Lactic acidosis Limb muscle weakness Progressive peripheral neuropathy Spinocerebellar tract degeneration Secondary amenorrhea Atrial septal defect Paraplegia Spastic paraplegia Leukemia Photophobia Difficulty walking Jaundice Reduced visual acuity Recurrent infections Immunodeficiency Neoplasm Neutropenia Decreased level of GABA in serum Long-tract signs Cerebral amyloid angiopathy Stroke-like episode Senile plaques Lewy bodies Neurofibrillary tangles Alzheimer disease Memory impairment Aggressive behavior Falls Hypopigmentation of the skin White hair Melanocytic nevus Generalized hypopigmentation Fair hair Periodontitis Gingivitis Iris hypopigmentation Hypopigmentation of hair Generalized hyperpigmentation Cerebral hemorrhage Albinism Decreased nerve conduction velocity Lymphoma Abnormality of vision Cranial nerve paralysis Foot dorsiflexor weakness Skin ulcer Hyperpigmentation of the skin Amblyopia Hypertriglyceridemia Cutaneous photosensitivity Peripheral demyelination Gastrointestinal hemorrhage Rhabdomyolysis Hyperthyroidism Horizontal supranuclear gaze palsy Osteomyelitis Hepatocellular carcinoma Protuberant abdomen Aseptic necrosis Pathologic fracture Interstitial pulmonary abnormality Pericardial effusion Petechiae Abnormality of coagulation Increased antibody level in blood Menorrhagia Edema of the lower limbs Leukocytosis Clubbing Abnormality of the thorax Portal hypertension Cholelithiasis Increased susceptibility to fractures Reduced bone mineral density Oculomotor apraxia Osteolysis Meningitis Increased serum ferritin Vertebral compression fractures Bone pain Arthralgia of the hip Cardiac valve calcification Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Puberty and gonadal disorders Biliary tract obstruction Vascular calcification Erlenmeyer flask deformity of the femurs Orthopnea Abnormal platelet function Flank pain Supranuclear gaze palsy Abnormality of bone marrow cell morphology Spontaneous hematomas Fractures of the long bones Esodeviation Periorbital edema Generalized osteosclerosis Abnormality of the spleen Avascular necrosis of the capital femoral epiphysis Abnormal myocardium morphology Multiple myeloma Increased bone mineral density Hepatic fibrosis Gonadal dysgenesis Gastroparesis Progressive ophthalmoplegia Subsarcolemmal accumulations of abnormally shaped mitochondria Acute rhabdomyolysis Multiple mitochondrial DNA deletions Impaired distal proprioception Nocturia Impaired distal vibration sensation Cytochrome C oxidase-negative muscle fibers Muscle fiber necrosis Cogwheel rigidity Focal white matter lesions Parkinsonism with favorable response to dopaminergic medication Testicular atrophy Abnormality of the mitochondrion Skeletal myopathy Absent Achilles reflex Shoulder girdle muscle weakness Facial diplegia Ketosis Mitochondrial myopathy Progressive external ophthalmoplegia Quadriceps muscle weakness Short stature Anorexia Cirrhosis Osteoarthritis Progressive neurologic deterioration Apraxia Abnormality of the cardiovascular system Cyanosis Syncope Generalized myoclonic seizures Abdominal distention Ascites Hematuria Abnormality of skin pigmentation Growth delay Corneal opacity Proteinuria Arthritis EEG abnormality Osteopenia Dyspnea Abdominal pain Delayed skeletal maturation Congestive heart failure Myopia Progressive alopecia


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