Hypertension, and Chorea

Diseases related with Hypertension and Chorea

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

Top matches:

PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME Is also known as cerebrorenal syndrome, perez type

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Strabismus
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PSYCHOMOTOR REGRESSION-OCULOMOTOR APRAXIA-MOVEMENT DISORDER-NEPHROPATHY SYNDROME

NEDIM is a neurodevelopmental and neurodegenerative disorder characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis. The abnormal movements can be severe, sometimes resulting in inability to sit, walk, speak, or eat. Hyperkinetic movements can be exacerbated by specific triggers, such as stress, illness, or high temperature. Some patients have brain abnormalities, such as cerebral atrophy or thin corpus callosum, and some patients may develop seizures (summary by Ananth et al., 2016 and Danti et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS; NEDIM

Medium match SNEDDON SYNDROME

Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.

SNEDDON SYNDROME Is also known as livedo reticularis-cerebrovascular accident syndrome|livedo racemosa-cerebrovascular accident syndrome|livedo reticularis and cerebrovascular accidents|ehrmann-sneddon syndrome

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Visual impairment
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SNEDDON SYNDROME

Other less relevant matches:

Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.

NEONATAL GLYCINE ENCEPHALOPATHY Is also known as classic glycine encephalopathy|neonatal nkh|nkh|neonatal non-ketotic hyperglycinemia|hyperglycinemia, nonketotic

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL GLYCINE ENCEPHALOPATHY

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

Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.

BILATERAL STRIOPALLIDODENTATE CALCINOSIS Is also known as cerebrovascular ferrocalcinosis|primary familial brain calcification|ferrocalcinosis, cerebrovascular|pfbc|bspdc|striopallidodentate calcinosis, bilateral|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset|basal ganglia calcification, id

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL STRIOPALLIDODENTATE CALCINOSIS

Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin sensitivity to UV light, as well as an increased risk of skin cancer associated with a defect in nucleotide excision repair (NER). The XPF form of XP is usually relatively mild compared to other forms. Patients with XPF tend to have later onset of skin cancer. Some patients with XPF may develop neurologic impairment or growth defects, and are then classified as having Cockayne syndrome (summary by Kashiyama et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of xeroderma pigmentosa, see XPA (OMIM ), and of Cockayne syndrome, see CSA (OMIM ).

XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF Is also known as xp6|xp, group f|xeroderma pigmentosum vi

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF

In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP; see this term) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO; see this term).

PSEUDOHYPOPARATHYROIDISM TYPE 1A Is also known as albright hereditary osteodystrophy-php syndrome ia|aho-php syndrome ia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM TYPE 1A

Pseudohypoparathyroidism is a term applied to a heterogeneous group of disorders whose common feature is end-organ resistance to parathyroid hormone (PTH ). In addition to PTH resistance, PHP Ia is characterized by resistance to other hormones, including thyroid-stimulating hormone (TSH; see TSHB, {188540}) and gonadotropins. PHP Ia is associated with a constellation of clinical features referred to as Albright hereditary osteodystrophy (AHO), which includes short stature, obesity, round facies, subcutaneous ossifications, brachydactyly, and other skeletal anomalies. Some patients have mental retardation (Mantovani and Spada, 2006).In contrast, pseudopseudohypoparathyroidism (PPHP ) is characterized by the physical findings of AHO but without hormone resistance (Kinard et al., 1979; Fitch, 1982; Mantovani and Spada, 2006).PHP1A occurs only after maternal inheritance of the molecular defect, whereas PPHP occurs only after paternal inheritance of the molecular defect (Davies and Hughes, 1993; Wilson et al., 1994). This is an example of imprinting, with differential gene expression depending on the parent of origin of the allele. See INHERITANCE and PATHOGENESIS sections.

PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A Is also known as albright hereditary osteodystrophy with multiple hormone resistance|php ia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PSEUDOHYPOPARATHYROIDISM, TYPE IA; PHP1A

Top 5 symptoms//phenotypes associated to Hypertension and Chorea

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases
Choreoathetosis Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Dementia Motor delay Depressivity Tremor Dysarthria Microcephaly Global developmental delay Hyporeflexia Irritability Hyperreflexia Nystagmus Dystonia Mental deterioration Feeding difficulties Ventriculomegaly Cerebellar atrophy Encephalopathy Myoclonus Involuntary movements Abnormality of movement Gait disturbance Anxiety Hyperactivity Short stature Behavioral abnormality Confusion Dysphagia Gliosis Muscle cramps Short neck Abnormality of eye movement Renal insufficiency Pseudohypoparathyroidism Sensorineural hearing impairment Basal ganglia calcification Cerebral calcification Dyskinesia Developmental regression Generalized hypotonia Muscle weakness Strabismus Calcinosis

Rare Symptoms - Less than 30% cases

Attention deficit hyperactivity disorder Cataract Depressed nasal bridge Brachydactyly Aggressive behavior Restlessness Paresthesia Obesity Dyspnea Agenesis of corpus callosum Growth delay Delayed eruption of teeth Thrombocytopenia Chest pain Vomiting Full cheeks Hydrocephalus Round face Muscular hypotonia Recurrent singultus Slurred speech Pill-rolling tremor Neurological speech impairment Schizophrenia Hypothyroidism Clumsiness Broad-based gait Progressive neurologic deterioration Bradykinesia Intrauterine growth retardation Neuronal loss in central nervous system Abnormal pyramidal sign Brain atrophy Growth hormone deficiency Progressive cerebellar ataxia Anemia Dysmetria Abnormal cerebellum morphology Abnormality of the cerebral white matter Cough Rigidity Weight loss Gait ataxia Diabetes mellitus Muscle stiffness Oral-pharyngeal dysphagia Emotional lability Muscle fibrillation Short metacarpal Abnormality of the nervous system Hypoplasia of dental enamel Low urinary cyclic AMP response to PTH administration Paralysis Facial palsy Elevated calcitonin Headache Ectopic ossification Pain Atrophy/Degeneration affecting the brainstem Athetosis Self-injurious behavior Abdominal symptom Hyperkinesis Short fifth metatarsal Short 3rd metacarpal Tetraplegia Vertigo Increased bone mineral density Hyperhidrosis Broad distal phalanx of the thumb Osteoma cutis Cerebral atrophy Hypoplasia of the corpus callosum Hyperostosis frontalis interna Spasticity Pituitary resistance to thyroid hormone Broad 1st metacarpal Nephropathy Falls Ptosis Abnormal platelet function Choroid plexus calcification Scoliosis Elevated circulating parathyroid hormone level Myoclonic spasms Prolactin deficiency Band keratopathy Hypocalcemic seizures Laryngeal dystonia Personality changes Constrictive median neuropathy Short 4th metacarpal Hypocalcemic tetany Hyperphosphatemia Spinal cord compression Oligomenorrhea Thickened calvaria Polyphagia Prolonged QT interval Short metatarsal Reduced bone mineral density Memory impairment Short 5th metacarpal Hypocalcemia Conjunctivitis Hypergonadotropic hypogonadism Decreased body weight Hypogonadism Parathyroid hyperplasia Freckling Neoplasm Tubular atrophy Verrucae Hypoglycemia Osteoporosis Shortening of all distal phalanges of the fingers Morphological abnormality of the central nervous system Photophobia Defective DNA repair after ultraviolet radiation damage Cholangiocarcinoma Abnormality of the dentition Seborrheic keratosis Numerous pigmented freckles Flexion contracture Subcutaneous nodule Deeply set eye Cafe-au-lait spot Cutaneous photosensitivity Microdontia Prominent nose Delayed myelination Short finger Astigmatism High palate Short toe Congenital hypothyroidism Exocrine pancreatic insufficiency Papule Bone marrow hypocellularity Erythema Tetany Proteinuria Neoplasm of the skin Failure to thrive Hypersomnia Macrocephaly Dysphasia Hyperpigmented nevi Progressive macrocephaly Pseudobulbar signs Leukoencephalopathy Sleep apnea Dysphonia Encephalitis Precocious puberty Bowel incontinence Microcoria Progressive spasticity Large face Drowsiness Increased CSF protein Poor coordination Megalencephaly Hypothermia Bulbar signs Abnormal autonomic nervous system physiology Diffuse demyelination of the cerebral white matter Frontal bossing Hyperlordosis Diarrhea Respiratory insufficiency Kyphosis Constipation Abnormality of the skeletal system Respiratory failure Osteopenia Aqueductal stenosis Nausea and vomiting Leukodystrophy Sleep disturbance Sudden cardiac death Hypotension Amenorrhea Peripheral demyelination Autoimmune antibody positivity Diplopia Clonus EEG abnormality Chronic bronchitis Hearing impairment Amaurosis fugax Cutis marmorata Aphasia Visual field defect Atrophic scars Thrombocytosis Transient ischemic attack Acrocyanosis Arteriovenous malformation Peripheral arterial stenosis Facial paralysis Cerebral ischemia Hemianopia Arterial stenosis Thromboembolic stroke Vascular skin abnormality Intracranial hemorrhage Neonatal hypotonia Neutropenia Lethargy Severe global developmental delay Autistic behavior Apnea Intellectual disability, moderate Acidosis Antiphospholipid antibody positivity Autism Visual loss Intellectual disability, mild Intellectual disability, severe Optic atrophy Lupus anticoagulant Heart murmur Hemiplegia Aciduria Hyperechogenic kidneys Difficulty walking Muscular hypotonia of the trunk Abnormality of the eye Stage 5 chronic kidney disease Apraxia Frequent falls Amblyopia Truncal ataxia Oculomotor apraxia Nephritis Hyperkalemia Limb hypertonia Loss of speech Tubulointerstitial nephritis Camptocormia Systemic lupus erythematosus Visual impairment Vasculitis Hemiparesis Myocardial infarction Migraine Stroke Myalgia Focal impaired awareness seizure Fever Poor head control Infantile muscular hypotonia Focal-onset seizure Tachycardia Elevated serum creatine phosphokinase Absent speech Coma Intellectual disability, profound Dense calcifications in the cerebellar dentate nucleus Mask-like facies Neuronal loss in basal ganglia Suicidal ideation Frequent temper tantrums Oral motor hypotonia Hepatomegaly Fatigue Abnormality of the liver Corneal opacity Postural instability Parkinsonism Urinary incontinence Abnormality of extrapyramidal motor function Psychosis Dysdiadochokinesis Abnormality of neuronal migration Mania Mood swings Calcification of the small brain vessels Progressive choreoathetosis Micrographia Focal motor seizures Limb dysmetria Subcutaneous hemorrhage Alcoholism Bipolar affective disorder Orofacial dyskinesia Focal dystonia Abnormal lower motor neuron morphology Lewy bodies Frontotemporal dementia Progressive encephalopathy Abnormal involuntary eye movements Paranoia Hypsarrhythmia Episodic ketoacidosis Limb ataxia Leukopenia Poor suck Impulsivity Spastic diplegia Infantile spasms Weak cry Ketoacidosis Hyperglycinemia Vertical supranuclear gaze palsy Hyperglycinuria Posterior fossa cyst Delirium Nonketotic hyperglycinemia Delayed speech and language development Testicular atrophy Akinesia Dilated fourth ventricle Head tremor Upper limb undergrowth Cerebellar vermis atrophy Bronchitis Hypokinesia Obsessive-compulsive behavior Arthritis Rheumatoid arthritis Incoordination Type II diabetes mellitus Generalized-onset seizure Neurodegeneration Infertility Subcutaneous calcification


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Tetralogy of Fallot, related diseases and genetic alterations Cardiomyopathy and Systemic lupus erythematosus, related diseases and genetic alterations Cataract and Retrognathia, related diseases and genetic alterations Hypertelorism and Ptosis, related diseases and genetic alterations Hypertelorism and Obesity, related diseases and genetic alterations Microcephaly and Hyperreflexia, related diseases and genetic alterations