Hypertension, and Encephalitis

Diseases related with Hypertension and Encephalitis

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

Top matches:

Neurocutaneous melanocytosis (NCM) is a rare congenital neurological disorder characterized by abnormal aggregations of nevomelanocytes within the central nervous system (leptomeningeal melanocytosis) associated with large or giant congenital melanocytic nevi (CMN; see this term). NCM can be asymptomatic or present as variably severe and progressive neurological impairment, sometimes resulting in death.

NEUROCUTANEOUS MELANOCYTOSIS Is also known as neurocutaneous melanosis|neuromelanosis|ncm

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEUROCUTANEOUS MELANOCYTOSIS

Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome is an extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus, hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature, eczema, hepatosplenomegaly, delayed puberty, and osteoporosis/osteopenia.

AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME Is also known as candf7|candidiasis, familial, 7|candidiasis, familial chronic mucocutaneous, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Anemia
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOIMMUNE ENTEROPATHY AND ENDOCRINOPATHY-SUSCEPTIBILITY TO CHRONIC INFECTIONS SYNDROME

Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.

TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY Is also known as encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency|mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v defici

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY

Other less relevant matches:

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

Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

Legionnaire disease (LD) is a type of pneumonia caused by Legionella pneumophila, a flagellated gram-negative bacterium found primarily in warm water environments. The disease and the bacterium were discovered following an outbreak traced to a 1976 American Legion convention in Philadelphia. A number of risk factors for acquiring LD have been identified, including age, smoking, chronic lung disease, cancer, and immunosuppression (summary by Hawn et al., 2003).

Related symptoms:

  • Ataxia
  • Neoplasm
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO

Nephrotic syndrome type 7 is an autosomal recessive renal disease characterized by onset of nephrotic syndrome with proteinuria usually in the first decade of life. The disorder is progressive, and some patients develop end-stage renal disease within several years. Renal biopsy typically shows membranoproliferative glomerulonephritis. Some patients may benefit from immunosuppressive therapy (summary by Ozaltin et al., 2013).Atypical hemolytic uremic syndrome-7 is characterized by acute onset in the first year of life of microangiopathic hemolytic anemia, thrombocytopenia, and renal failure. After the acute episode, most patients develop chronic renal insufficiency. Unlike other genetic forms of aHUS, AHUS7 is not related to abnormal activation of the complement system (summary by Lemaire et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of nephrotic syndrome, see NPHS1 (OMIM ).For a general phenotypic description and a discussion of genetic heterogeneity of aHUS, see AHUS1 (OMIM ).

IMMUNOGLOBULIN-MEDIATED MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS Is also known as ig-mediated mpgn|immunoglobulin-mediated mpgn|ig-mediated membranoproliferative glomerulonephritis|nephrotic syndrome, type 7, with membranoproliferative glomerulonephritis

Related symptoms:

  • Anemia
  • Hypertension
  • Renal insufficiency
  • Thrombocytopenia
  • Proteinuria


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMMUNOGLOBULIN-MEDIATED MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS

COMPLEMENT COMPONENT 4B DEFICIENCY; C4BD Is also known as c4b deficiency

Related symptoms:

  • Hypertension
  • Thrombocytopenia
  • Diabetes mellitus
  • Hepatitis
  • Nephrotic syndrome


SOURCES: OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 4B DEFICIENCY; C4BD

COMPLEMENT COMPONENT 4A DEFICIENCY; C4AD Is also known as c4a deficiency

Related symptoms:

  • Hypertension
  • Diabetes mellitus
  • Hepatitis
  • Nephrotic syndrome
  • Cutaneous photosensitivity


SOURCES: MESH OMIM MENDELIAN

More info about COMPLEMENT COMPONENT 4A DEFICIENCY; C4AD

Top 5 symptoms//phenotypes associated to Hypertension and Encephalitis

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Diabetes mellitus Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hepatitis Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Anemia Growth delay Thrombocytopenia Nephrotic syndrome Leukoencephalopathy Intellectual disability Glomerulonephritis Congestive heart failure Meningitis Vomiting Diarrhea Lymphopenia Proteinuria Purpura Renal insufficiency Pulmonary arterial hypertension Respiratory insufficiency Pneumonia Hypothyroidism Respiratory failure Osteopenia Migraine

Rare Symptoms - Less than 30% cases

Developmental regression Abnormal lung morphology Systemic lupus erythematosus Cough Hyperlordosis Short neck Bone marrow hypocellularity Muscular hypotonia Abnormality of the kidney Premature birth Arrhythmia Transient ischemic attack Cerebellar atrophy Cardiomyopathy Tremor Intrauterine growth retardation Glomerulopathy Abnormal facial shape Dementia Failure to thrive Scoliosis Muscle weakness Focal segmental glomerulosclerosis Cognitive impairment Motor delay Glomerulosclerosis Hemolytic anemia Kyphosis Villous atrophy Sepsis Nausea and vomiting Complement deficiency Gliosis Autoimmunity Headache Stage 5 chronic kidney disease Melanocytic nevus Fever EEG abnormality Hypotension Spasticity Hydrocephalus Short stature Immunodeficiency Chronic active hepatitis Generalized hypotonia Neoplasm Recurrent infections Scarring Thin upper lip vermilion High pitched voice Combined immunodeficiency Subvalvular aortic stenosis Hypermelanotic macule Steatorrhea Multiple cafe-au-lait spots Abnormality of the dentition Myopia Precocious atherosclerosis Protuberant abdomen Depressed nasal bridge Diffuse demyelination of the cerebral white matter Abnormality of the vasculature Emphysema Thoracic kyphosis Microcoria Ovoid vertebral bodies Disproportionate short-trunk short stature Cerebral ischemia Lymphoproliferative disorder B-cell lymphoma Stroke Nephritis Corneal opacity Neutropenia Lumbar hyperlordosis Microdontia Intellectual disability, profound Cellular immunodeficiency Decreased testicular size Fine hair Waddling gait Abnormal form of the vertebral bodies Lymphoma Brain atrophy Heterotopia Abnormality of epiphysis morphology Abnormal cerebellum morphology Opacification of the corneal stroma Hip dislocation Atherosclerosis Nephropathy Hyperlipidemia Azoospermia Bulbous nose Abnormality of skin pigmentation Reduced bone mineral density Coarse hair Chronic kidney disease Epiphyseal dysplasia Astigmatism Malabsorption Spondyloepiphyseal dysplasia Platyspondyly Dentinogenesis imperfecta Lateral displacement of the femoral head Right ventricular cardiomyopathy Dyspnea Cerebral hemorrhage Clubbing Ischemic stroke Telangiectasia Epistaxis Cyanosis Gastrointestinal hemorrhage Cirrhosis Vasculitis Subarachnoid hemorrhage Cutaneous photosensitivity Decreased serum complement C4b Thickening of the glomerular basement membrane Microangiopathic hemolytic anemia Membranoproliferative glomerulonephritis Hemolytic-uremic syndrome Microscopic hematuria Acute kidney injury Polycythemia Hematochezia Chills Spinal arteriovenous malformation Gastrointestinal arteriovenous malformation Gastrointestinal telangiectasia Nail bed telangiectasia Palate telangiectasia Tongue telangiectasia Nasal mucosa telangiectasia Hepatic arteriovenous malformation Pulmonary arteriovenous malformation Brain abscess Conjunctival telangiectasia Right-to-left shunt Choriocapillaris atrophy Gastrointestinal angiodysplasia Lip telangiectasia Cerebral arteriovenous malformation Spontaneous, recurrent epistaxis Hematemesis Melena Endocarditis Abnormality of the pleura Arteriosclerosis Moyamoya phenomenon Respiratory distress Fatigue Peripheral neuropathy Pain Recurrent singultus Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Abnormal immunoglobulin level Abdominal pain Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Multiple lentigines Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Splenomegaly Arthralgia Recurrent pharyngitis Hyponatremia Reduced consciousness/confusion Chronic lung disease Myocarditis Pulmonary infiltrates Hemoptysis Pericarditis Cellulitis Restrictive ventilatory defect Shock Jaundice Pancreatitis Hallucinations Anorexia Chest pain Hematuria Nausea Lymphadenopathy Confusion Myalgia Hyperpigmented nevi Amenorrhea Progressive macrocephaly Abnormality of the endocrine system B lymphocytopenia Primary hypothyroidism Decrease in T cell count Enterocolitis Immune dysregulation Generalized osteoporosis Chronic mucocutaneous candidiasis Dilatation of the cerebral artery Renovascular hypertension Hashimoto thyroiditis Pulmonary embolism Autoimmune thrombocytopenia Thyroiditis Autoimmune hemolytic anemia Inflammation of the large intestine Patent foramen ovale Antiphospholipid antibody positivity Renal artery stenosis Abnormal intestine morphology Cataract Long philtrum Anteverted nares Wide nasal bridge Hepatomegaly Flexion contracture Low-set ears Cryptorchidism Microcephaly Autoimmune neutropenia Abnormal serum interferon-gamma level Medial calcification of large arteries Esophageal carcinoma Oropharyngeal squamous cell carcinoma Susceptibility to herpesvirus Recurrent Aspergillus infections Carotid artery dilatation Functional abnormality of the bladder Recurrent upper respiratory tract infections Type I diabetes mellitus Encephalopathy Generalized hirsutism Intracranial hemorrhage Increased intracranial pressure Melanoma Arnold-Chiari malformation Renal hypoplasia/aplasia Venous thrombosis Cranial nerve paralysis Abnormality of retinal pigmentation Aplasia/Hypoplasia of the cerebellum Thickened skin Hemiparesis Dandy-Walker malformation Nevus Mental deterioration Abnormality of the nervous system Behavioral abnormality Ventriculomegaly Chorioretinal coloboma Abnormality of neuronal migration Bronchiectasis Dilatation Inflammatory abnormality of the skin Eczema Delayed puberty Carcinoma Hepatosplenomegaly Recurrent respiratory infections Delayed skeletal maturation Numerous congenital melanocytic nevi Generalized hyperpigmentation Choroid plexus papilloma Papilloma Astrocytoma Meningioma Spinal cord compression Meningocele Arachnoid cyst Syringomyelia Hypospadias Inguinal hernia Pseudobulbar signs Sudden cardiac death Muscle stiffness Leukodystrophy Clonus Diplopia Cerebral calcification Peripheral demyelination Chorea Tetraplegia Sleep apnea Sleep disturbance Dysmetria Abnormality of eye movement Abnormality of the cerebral white matter Neurological speech impairment Abnormal pyramidal sign Facial palsy Weight loss Abnormal autonomic nervous system physiology Dysphonia Agenesis of corpus callosum Increased CSF protein Large face Hypersomnia Aqueductal stenosis Bulbar signs Hypothermia Megalencephaly Poor coordination Drowsiness Precocious puberty Atrophy/Degeneration affecting the brainstem Muscle fibrillation Progressive spasticity Bowel incontinence Dysphasia Emotional lability Oral-pharyngeal dysphagia Self-injurious behavior Hyperhidrosis Constipation Cerebral cortical atrophy Small for gestational age Intention tremor Interphalangeal joint contracture of finger Oligohydramnios Aciduria Increased serum lactate Flat face Lactic acidosis Short philtrum Aplasia/Hypoplasia of the corpus callosum Camptodactyly of finger Wide mouth Intellectual disability, moderate Hypertrophic cardiomyopathy Neonatal hypotonia Umbilical hernia Retrognathia Acidosis Microretrognathia Hyperammonemia Hyporeflexia Feeding difficulties Depressivity Dysphagia Frontal bossing Gait disturbance Macrocephaly Dysarthria Hyperreflexia High palate Flat occiput Ptosis Nystagmus Abnormal pulmonary valve morphology Gastroparesis Hyperalaninemia 3-Methylglutaconic aciduria Moderate global developmental delay Abnormal aortic valve morphology Fingerpad telangiectases


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