Edema, and Abnormality of extrapyramidal motor function

Diseases related with Edema and Abnormality of extrapyramidal motor function

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


Top matches:

Low match ALZHEIMER DISEASE; AD


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

Low match ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY 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

Low match BURULI ULCER, SUSCEPTIBILITY TO


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

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Other less relevant matches:

Low match PLAA-ASSOCIATED NEURODEVELOPMENTAL DISORDER


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

Low match CONGENITAL MUSCULAR DYSTROPHY TYPE 1A


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

Low match GLUTARYL-COA DEHYDROGENASE DEFICIENCY


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

Low match WOODHOUSE-SAKATI SYNDROME


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

Low match CHÉDIAK-HIGASHI SYNDROME


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

Low match AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA


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

Low match GAUCHER DISEASE TYPE 1


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

Top 5 symptoms//phenotypes associated to Edema and Abnormality of extrapyramidal motor function

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
Spasticity Uncommon - Between 30% and 50% cases
Gait disturbance Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Edema and Abnormality of extrapyramidal motor function. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


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

Rare Symptoms - Less than 30% cases


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



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Unsteady gait, related diseases and genetic alterations Skeletal muscle atrophy and Dementia, related diseases and genetic alterations Pain and Headache, related diseases and genetic alterations Immunodeficiency and Developmental regression, related diseases and genetic alterations Breast carcinoma and Mitral valve prolapse, related diseases and genetic alterations Short stature and Facial asymmetry, related diseases and genetic alterations Global developmental delay and Synophrys, related diseases and genetic alterations

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