Hypertension, and Neurodegeneration

Diseases related with Hypertension and Neurodegeneration

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

Top matches:

Fatal familial insomnia (FFI) is a very rare form of prion disease (see this term) characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances.

FATAL FAMILIAL INSOMNIA Is also known as insomnia, fatal familial

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Spasticity
  • Hypertension


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FATAL FAMILIAL INSOMNIA

Medium match CARASIL

CARASIL is a hereditary cerebral small vessel disease characterized by early-onset gait disturbances, premature scalp alopecia, ischemic stroke, acute mid to lower back pain and progressive cognitive disturbances leading to severe dementia.

CARASIL Is also known as cerebrovascular disease with thin skin, alopecia, and disc disease|subcortical vascular encephalopathy, progressive|maeda syndrome|cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CARASIL

Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.

JUVENILE HUNTINGTON DISEASE Is also known as huntington chorea|jhd|juvenile huntington chorea

Related symptoms:

  • Seizures
  • Ataxia
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HUNTINGTON DISEASE

Other less relevant matches:

Hypermanganesemia with dystonia-1 is an autosomal recessive metabolic disorder characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, which leads to cirrhosis in some cases. Intellectual function is preserved (summary by Tuschl et al., 2012 and Quadri et al., 2012). Genetic Heterogeneity of Hypermanganesemia With DystoniaSee also HMNDYT2 (OMIM ), caused by mutation in the SLC39A14 gene (OMIM ) on chromosome 8p21.

CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME Is also known as hmdpc|hypermanganesemia with dystonia, polycythemia, and cirrhosis

Related symptoms:

  • Microcephaly
  • Ataxia
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME

GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age.

GM1 GANGLIOSIDOSIS TYPE 2 Is also known as late-infantile gm1 gangliosidosis|gangliosidosis, generalized gm1, type ii|juvenile gm1 gangliosidosis|gangliosidosis, generalized gm1, type 2|gangliosidosis, generalized gm1, juvenile type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about GM1 GANGLIOSIDOSIS TYPE 2

Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

Medium match NEUROFERRITINOPATHY

Neuroferritinopathy is a late-onset type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by progressive chorea or dystonia and subtle cognitive deficits.

NEUROFERRITINOPATHY Is also known as neuroferritinopathy|ferritin-related neurodegeneration|hereditary ferritinopathy|adult basal ganglia disease|basal ganglia disease, adult-onset

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about NEUROFERRITINOPATHY

Multiple system atrophy (MSA) is a distinct clinicopathologic entity that manifests as a progressive adult-onset neurodegenerative disorder causing parkinsonism, cerebellar ataxia, and autonomic, urogenital, and pyramidal dysfunction in various combinations. Two main subtypes are recognized: 'subtype C,' characterized predominantly by cerebellar ataxia, and 'subtype P,' characterized predominantly by parkinsonism. MSA is characterized pathologically by the degeneration of striatonigral and olivopontocerebellar structures and glial cytoplasmic inclusions (GCIs) that consist of abnormally phosphorylated alpha-synuclein (SNCA ) or tau (MAPT ) (Gilman et al., 1998; Gilman et al., 2008; Scholz et al., 2009). 'Subtype C' of MSA has been reported to be more prevalent than 'subtype P' in the Japanese population (65-67% vs 33-35%), whereas 'subtype P' has been reported to be more prevalent than 'subtype C' in Europe (63% vs 34%) and North America (60% vs 13%, with 27% of cases unclassified) (summary by The Multiple-System Atrophy Research Collaboration, 2013).MSA is similar clinically and pathologically to Parkinson disease (PD ) and Lewy body dementia (OMIM ). See also PARK1 (OMIM ), which is specifically caused by mutation in the SNCA gene.Pure autonomic failure manifests as orthostatic hypotension and other autonomic abnormalities without other neurologic involvement. Although there is some phenotypic overlap, the relationship of pure autonomic failure to MSA is unclear (Vanderhaeghen et al., 1970; Schatz, 1996).

MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1 Is also known as msa1, susceptibility to

Related symptoms:

  • Ataxia
  • Ptosis
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1

Medium match HURLER SYNDROME

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease (OMIM ).

SANDHOFF DISEASE, INFANTILE FORM Is also known as infantile gm2 gangliosidosis 0 variant|hexosaminidases a and b deficiency|hexosaminidases a and b deficiency, infantile form|gm2-gangliosidosis, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SANDHOFF DISEASE, INFANTILE FORM

Top 5 symptoms//phenotypes associated to Hypertension and Neurodegeneration

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Dementia Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Rigidity Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hypertension and Neurodegeneration. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Mental deterioration

Uncommon Symptoms - Between 30% and 50% cases

Tremor

Common Symptoms - More than 50% cases

Gait disturbance

Uncommon Symptoms - Between 30% and 50% cases

Progressive neurologic deterioration Cognitive impairment Hyperreflexia Babinski sign Abnormal pyramidal sign Dysphagia Urinary incontinence Abnormality of extrapyramidal motor function Emotional lability Dystonia Bradykinesia Hepatomegaly Hepatosplenomegaly Abnormality of eye movement Neuronal loss in central nervous system Gliosis Progressive cerebellar ataxia Myoclonus Intellectual disability Depressivity Encephalopathy Constipation Spasticity Cerebellar atrophy Behavioral abnormality Astrocytosis Kyphosis Spastic paraparesis Hypertonia Delayed speech and language development Gait ataxia Orthostatic hypotension Hyperhidrosis Difficulty walking Splenomegaly Global developmental delay Pallor Impotence Stridor Parkinsonism Slurred speech Nystagmus Abnormal autonomic nervous system physiology Recurrent respiratory infections Abnormality of movement Skeletal muscle atrophy

Rare Symptoms - Less than 30% cases

Abnormal heart valve morphology Cirrhosis Postural instability Abnormality of the liver Cardiomegaly Paraparesis Arrhythmia Elevated hepatic transaminase Diarrhea Pneumonia Vomiting Peripheral neuropathy Supranuclear gaze palsy Macroglossia Personality changes Hydrocephalus Schizophrenia Involuntary movements Clumsiness Cardiomyopathy Decreased serum ferritin Portal hypertension Blindness Hemiplegia Lumbar kyphosis Congestive heart failure Abdominal pain Dyspnea Abnormality of the spleen Osteopenia Coxa valga Corneal opacity Generalized myoclonic seizures Developmental regression Prominent forehead Cerebral atrophy Anteverted nares Toe walking Optic atrophy Short stature Scoliosis Growth delay Syncope Feeding difficulties Abnormal facial shape Muscle weakness Progressive psychomotor deterioration Decreased body weight Chronic diarrhea Hypomimic face Limb dystonia Restrictive ventilatory defect Depressed nasal bridge Edema Language impairment Urinary urgency Aggressive behavior Dysmetria Ophthalmoplegia Back pain Ventriculomegaly Anemia Abnormality of the cerebral white matter Coarse facial features Apathy Stroke Orofacial dyskinesia Dysuria Gaze-evoked nystagmus Macrocephaly Osteoporosis Pain Hearing impairment Chorea Hyperkinesis Peripheral demyelination Fever Fatigue Weight loss Abnormal cerebellum morphology Retinal degeneration Anxiety Apnea Hypotension Psychosis Generalized tonic-clonic seizures Hypohidrosis Unsteady gait Inability to walk Memory impairment Diplopia Elbow flexion contracture Cerebral palsy Aortic regurgitation Coxa vara Opacification of the corneal stroma Generalized hirsutism Abnormality of dental enamel Widely spaced teeth Respiratory insufficiency Abnormal vertebral morphology Retinopathy Short neck Recurrent upper respiratory tract infections Orthostatic syncope Heart murmur Autonomic erectile dysfunction Female anorgasmia Abnormality of circulating catecholamine level Prominent supraorbital ridges Hypertelorism Micrognathia Sensorineural hearing impairment Muscular hypotonia Abnormality of the skeletal system Increased intracranial pressure Hyperammonemia Sleep apnea Gingival overgrowth Flexion contracture Wide nasal bridge Corneal dystrophy Progressive hearing impairment Frontal bossing Exotropia Mitral regurgitation Abnormality of epiphysis morphology Thick vermilion border Joint stiffness Abnormality of the skin Limitation of joint mobility Asthma Wide mouth Full cheeks Broad nasal tip Delayed eruption of teeth Sleep disturbance Everted lower lip vermilion High, narrow palate Wide nose Umbilical hernia Hirsutism Thick eyebrow Abnormality of skin pigmentation Dry skin Genu valgum Synophrys Carious teeth Severe global developmental delay Craniosynostosis Pectus carinatum Nyctalopia Camptodactyly of finger Conductive hearing impairment Skeletal dysplasia Thickened skin Hernia Long eyelashes Left ventricular hypertrophy Encephalocele Abnormal form of the vertebral bodies Abnormality of the dentition Split hand Long philtrum Recurrent otitis media Hypertrichosis Myocardial infarction Headache Interphalangeal joint contracture of finger Hip dysplasia Intellectual disability, profound Lumbar hyperlordosis Visual loss Abnormality of the ribs Abnormality of the cardiovascular system Inguinal hernia Pes cavus Microdontia Glaucoma Proptosis Progressive visual loss Kyphoscoliosis Dolichocephaly Cor pulmonale Metatarsus adductus Urinary glycosaminoglycan excretion Hypoplastic cervical vertebrae Enlarged tonsils C1-C2 subluxation Abnormality of the tonsils Calcification of falx cerebri Hypoplasia of the femoral head Abnormality of the pubic bone Abnormality of mucopolysaccharide metabolism Dermatan sulfate excretion in urine Abnormal CNS myelination Cervical kyphosis Short mandibular rami Hernia of the abdominal wall Mandibular condyle hypoplasia Thoracolumbar kyphoscoliosis Calvarial hyperostosis Cervical myelopathy Abnormality of the middle ear ossicles Enlargement of the wrists Abnormal hand morphology Heparan sulfate excretion in urine Hip subluxation Atlantoaxial dislocation Abnormality of the gingiva J-shaped sella turcica Prominent sternum Anterior rib cupping Cervical subluxation Abnormality of lysosomal metabolism Flared nostrils Abnormal mandible coronoid process morphology Abnormality of glycosphingolipid metabolism Cherry red spot of the macula Upper motor neuron dysfunction Motor deterioration Megalencephaly Episodic abdominal pain Fasciculations Paralysis Respiratory tract infection Cerebral cortical atrophy Delayed ossification of the hand bones Abnormal mandibular ramus morphology Abnormality of premolar morphology Stiff interphalangeal joints Flaring of rib cage Abnormality of the tympanic membrane Abnormality of glycosaminoglycan metabolism Increased size of nasopharyngeal adenoids Abnormality of the wing of the ilium Broad long bone diaphyses Bullet-shaped phalanges of the hand Proximal tapering of metacarpals Enlarged vertebral pedicles Deformed humerus Thick skull base Delayed tarsal ossification Abnormality of joint mobility Broad ischia Large sella turcica Narrow pelvis bone Multiple joint contractures Abnormality of the elbow Communicating hydrocephalus Large earlobe Beaking of vertebral bodies Tracheal stenosis Abnormality of the respiratory system Dysostosis multiplex Diastasis recti Gingivitis Abnormality of the clavicle Abnormality of the skull Obstructive sleep apnea Recurrent lower respiratory tract infections Shallow orbits Hypoplastic ilia Peripheral visual field loss Protuberant abdomen Palpebral edema Hypoplasia of the odontoid process Short clavicles Protruding tongue Thoracic scoliosis Rhinitis Spinal canal stenosis Arthropathy Thickened calvaria Coronary artery atherosclerosis Flared metaphysis Upper airway obstruction Angina pectoris Meckel diverticulum Broad femoral neck Anterior open bite Abnormal nerve conduction velocity Difficulty standing Sclerosis of skull base Large face Mucopolysacchariduria Biconcave vertebral bodies Chronic rhinitis Retinal fold Recurrent ear infections Abnormal diaphysis morphology Diaphyseal thickening Delayed ossification of carpal bones Rhinorrhea Conical tooth Abnormality of peripheral nerve conduction Myelopathy Sagittal craniosynostosis Hypoplasia of teeth Abnormal aortic valve morphology Constrictive median neuropathy Endocardial fibroelastosis Seborrheic dermatitis Abnormal mitral valve morphology Pulmonary edema Foam cells Flared iliac wings Civatte bodies Camptocormia Thoracic kyphosis Abnormal rapid eye movement sleep Lower limb muscle weakness Axonal loss Abnormality of coagulation Steppage gait Dysdiadochokinesis Hyperbilirubinemia Truncal ataxia Sensorimotor neuropathy Decreased liver function Gastrointestinal hemorrhage Polyneuropathy Hepatic steatosis Hypertrophic cardiomyopathy Generalized dystonia Jaundice Microcephaly Oral motor hypotonia Frequent temper tantrums Suicidal ideation Neuronal loss in basal ganglia Abnormal involuntary eye movements Mania Paranoia Testicular atrophy Dilated fourth ventricle Polycythemia Action tremor Head tremor Increased total iron binding capacity Spastic tetraplegia Generalized muscle weakness Tetraplegia Platyspondyly Posteriorly rotated ears Renal insufficiency Epicanthus Motor delay Abnormality of divalent inorganic cation homeostasis Abnormal transferrin saturation Copper accumulation in liver Pica Echolalia Abnormality of amino acid metabolism Abnormal basal ganglia MRI signal intensity Abnormal globus pallidus morphology Vitamin E deficiency Unconjugated hyperbilirubinemia Micronodular cirrhosis Hepatic encephalopathy Hyperglycinemia Abnormal myelination Poor fine motor coordination Prolonged prothrombin time Esophageal varix Chronic bronchitis Upper limb undergrowth Brisk reflexes Urinary retention Stroke-like episode Progressive encephalopathy Leukoencephalopathy Spastic gait Hemiparesis Tetraparesis Sparse hair Alopecia Snoring Delirium Hypersomnia Central apnea Low back pain Bulbar signs Hypothermia Urinary bladder sphincter dysfunction Hyperventilation Insomnia Aphasia Agitation Hallucinations Coma Tachycardia Confusion Spastic ataxia Arteriosclerosis Restlessness Brain atrophy Cerebellar vermis atrophy Bronchitis Muscle fibrillation Hypokinesia Akinesia Obsessive-compulsive behavior Rheumatoid arthritis Incoordination Broad-based gait Type II diabetes mellitus Generalized-onset seizure Falls Pseudobulbar paralysis Infertility Cough Irritability Arthritis Hyperactivity Diabetes mellitus Arteriosclerosis of small cerebral arteries Diffuse demyelination of the cerebral white matter Diffuse leukoencephalopathy Pseudobulbar signs Knee pain Diffuse white matter abnormalities Abnormality of the face Loss of speech Autonomic bladder dysfunction Horizontal supranuclear gaze palsy Oral-pharyngeal dysphagia Dysphonia Mutism Choreoathetosis Dyskinesia Abnormality of metabolism/homeostasis Generalized hypotonia Sleep myoclonus Abnormality of the acoustic reflex Abnormality of ion homeostasis Cardiac valve calcification Hematological neoplasm Blepharospasm Decreased beta-glucocerebrosidase protein and activity Erlenmeyer flask deformity of the femurs Orthopnea Mitral valve calcification Abnormal saccadic eye movements Aortic valve calcification Spontaneous hematomas Abnormal thrombosis Generalized osteosclerosis Protein-losing enteropathy Restrictive deficit on pulmonary function testing Spastic diplegia Disinhibition Abnormal myocardium morphology Anhidrosis Nocturia Orthostatic hypotension due to autonomic dysfunction Abnormal brain FDG positron emission tomography Central sleep apnea Iris atrophy Axial dystonia Cogwheel rigidity Olivopontocerebellar atrophy Raynaud phenomenon Resting tremor Bowel incontinence Mask-like facies Laryngeal dystonia Postural tremor Limb ataxia Frequent falls Small hand Ptosis Cavitation of the basal ganglia Akinetic mutism Micrographia Subcortical dementia Anarthria Writer's cramp Abnormality of the basal ganglia Avascular necrosis of the capital femoral epiphysis Multiple myeloma Developmental stagnation Proteinuria Epistaxis Pulmonary arterial hypertension Pancytopenia Cyanosis Abnormal bleeding Abdominal distention Ascites Hematuria Lymphadenopathy Delayed puberty Malabsorption Delayed skeletal maturation Hydrops fetalis Thrombocytopenia Myopia Strabismus Failure to thrive Decreased beta-galactosidase activity Sea-blue histiocytosis Decerebrate rigidity Vacuolated lymphocytes Loss of ability to walk Psychomotor deterioration Visceromegaly Intention tremor Bone pain Hypercoagulability Petechiae Vertebral compression fractures Slow saccadic eye movements Hepatocellular carcinoma Aseptic necrosis Exertional dyspnea Bulbar palsy Abnormality of the sternum Lower limb hyperreflexia Abnormal retinal morphology Pericardial effusion Interstitial pulmonary abnormality Opisthotonus Lymphopenia Increased antibody level in blood Pulmonary fibrosis Menorrhagia Clubbing Abnormality of the thorax Cholelithiasis Hypoalbuminemia Increased susceptibility to fractures Leukopenia Oculomotor apraxia Osteolysis Increased bone mineral density Impaired thermal sensitivity


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