Hypertension, and Cerebral cortical atrophy

Diseases related with Hypertension and Cerebral cortical atrophy

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

Top matches:

Lipoyl transferase 1 deficiency is a very rare inborn error of metabolism disorder, with a highly variable phenotype, typically characterized by neonatal to infancy-onset of seizures, psychomotor delay, and abnormal muscle tone that may include hypo- and/or hypertonia, resulting in generalized weakness, dystonic movements, and/or progressive respiratory distress, associated with severe lactic acidosis and elevated lactate, ketoglutarate and 2-oxoacids in urine. Additional manifestations may include dehydration, vomiting, signs of liver dysfunction, extrapyramidal signs, spastic tetraparesis, brisk deep tendon reflexes, speech impairment, swallowing difficulties, and pulmonary hypertension.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertension
  • Cerebellar atrophy
  • Hypertonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about LIPOYL TRANSFERASE 1 DEFICIENCY

Medullary cystic kidney disease (MCKD) is an autosomal dominant form of tubulointerstitial nephropathy characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of impaired renal function and salt wasting resulting in end-stage renal failure by the sixth decade (Wolf et al., 2004).Although early reports suggested that medullary cystic kidney disease and familial juvenile nephronophthisis (NPHP1 ) represented the same disease entity because of the overlapping phenotype (Chamberlin et al., 1977), they are now considered to be distinct disorders. MCKD has adult onset and shows autosomal dominant inheritance, whereas NPHP1 has juvenile onset and shows autosomal recessive inheritance (Christodoulou et al., 1998). NPHP1 is caused by mutation in the nephrocystin gene (NPHP1 ) on chromosome 2q13. Genetic Heterogeneity of Medullary Cystic Kidney DiseaseSee also MCKD2 (OMIM ), which is caused by mutation in the UMOD gene (OMIM ) on chromosome 16p.

MEDULLARY SPONGE KIDNEY Is also known as cacchi-ricci disease|msk|medullary cystic kidney disease, autosomal dominant|admckd1|polycystic kidneys, medullary type|mckd|precalicial canalicular ectasia

Related symptoms:

  • Pain
  • Anemia
  • Hypertension
  • Renal insufficiency
  • Cerebral cortical atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEDULLARY SPONGE KIDNEY

Primary pigmented micronodular adrenocortical disease is a form of ACTH-independent adrenal hyperplasia resulting in Cushing syndrome. It is usually seen as a manifestation of the Carney complex (CNC1 ), a multiple neoplasia syndrome. However, PPNAD can also occur in isolation (Groussin et al., 2002). Genetic Heterogeneity of Primary Pigmented Micronodular Adrenocortical DiseaseSee also PPNAD2 (OMIM ), caused by mutation in the PDE11A gene (OMIM ) on chromosome 2q31; PPNAD3 (OMIM ), caused by mutation in the PDE8B gene (OMIM ) on chromosome 5q13; and PPNAD4 (OMIM ), caused by a duplication on chromosome 19p13 that includes the PRKACA gene (OMIM ).

PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1 Is also known as pigmented micronodular adrenocortical disease, primary, 1|cushing syndrome, adrenal, due to ppnad1|adrenocortical nodular dysplasia, primary

Related symptoms:

  • Neoplasm
  • Hypertension
  • Kyphosis
  • Obesity
  • Depressivity


SOURCES: OMIM MENDELIAN

More info about PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1

Other less relevant matches:

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.

FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME Is also known as fxtas syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME

Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.

RIBOFLAVIN TRANSPORTER DEFICIENCY Is also known as sensorineural hearing loss-pontobulbar palsy syndrome|brown-vialetto-van laere syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about RIBOFLAVIN TRANSPORTER DEFICIENCY

COXPD11 is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes (summary by Garcia-Diaz et al., 2012).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11 Is also known as coxpd11|encephaloneuromyopathy, infantile, due to mitochondrial translation defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11

Low match ALG1-CDG

ALG1-CDG is a severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).

ALG1-CDG Is also known as cdg1k|cdgik|cdg syndrome type ik|congenital disorder of glycosylation type 1k|cdg-ik|mannosyltransferase 1 deficiency|cdg ik|congenital disorder of glycosylation type ik|carbohydrate deficient glycoprotein syndrome type ik

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALG1-CDG

Low match CADASIL

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.

CADASIL Is also known as dementia, hereditary multi-infarct type|cadasil|cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy|casil|hereditary multi-infarct dementia

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CADASIL

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

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

Top 5 symptoms//phenotypes associated to Hypertension and Cerebral cortical atrophy

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Cerebellar atrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertension and Cerebral cortical atrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Encephalopathy Respiratory insufficiency Ataxia Tremor Depressivity Mental deterioration Cognitive impairment Hearing impairment Muscle weakness Muscular hypotonia Peripheral neuropathy Dysarthria Hyporeflexia Pain Myoclonus Hepatomegaly Cardiomyopathy Cerebral atrophy Renal insufficiency Dysphagia Increased serum lactate Acidosis Lactic acidosis

Rare Symptoms - Less than 30% cases

Psychosis Delayed myelination Dysmetria Abnormality of movement Stroke Cranial nerve paralysis Aggressive behavior Abnormality of eye movement Facial palsy Hypogonadism Developmental regression Anxiety Spastic tetraparesis Agitation Apathy Tetraplegia Abnormality of the cerebral white matter Subcortical dementia Spasticity Dementia Fever Gait disturbance Elevated serum creatine phosphokinase Coma Decreased liver function Tetraparesis Pulmonary arterial hypertension Hyperreflexia Abnormality of extrapyramidal motor function Bulbar palsy Visual impairment Hypertrophic cardiomyopathy Respiratory failure Anemia Abnormal autonomic nervous system physiology Abnormality of the kidney Leukoencephalopathy Nephropathy Renal cyst Hypotension Renal hypoplasia Intention tremor Chronic kidney disease Flexion contracture Intrauterine growth retardation Bradykinesia Neonatal hypotonia Memory impairment Areflexia Myopathy Failure to thrive Brain atrophy Jaundice Urinary incontinence Hypertonia Hypoplasia of the corpus callosum Dystonia Absent speech Atrophy/Degeneration affecting the brainstem Confusion Nausea Attention deficit hyperactivity disorder Vertigo Abnormality of the eye Sensory neuropathy Pallor Abnormality of the skin Generalized tonic-clonic seizures Lower limb muscle weakness Inability to walk Peripheral demyelination Migraine Myocardial infarction Hypoglycemia Chorea EEG abnormality Nephrotic syndrome Increased CSF lactate Breech presentation Tongue fasciculations Microvesicular hepatic steatosis Hypertelorism Micrognathia Edema Blindness Splenomegaly Hepatosplenomegaly Self-injurious behavior Thin vermilion border Hepatic failure Ascites Large fontanelles Babinski sign Budd-Chiari syndrome Visual loss Headache Behavioral abnormality Vomiting Delayed speech and language development Sensorineural hearing impairment Abnormality of the amniotic fluid Portal hypertension Hyperkinesis Focal impaired awareness seizure Type I transferrin isoform profile Nonimmune hydrops fetalis Abnormality of immune system physiology Abnormality of coagulation Hemiparesis Scotoma Truncal ataxia Umbilical hernia Premature birth Flat face Small for gestational age Short philtrum Camptodactyly of finger Wide mouth Intellectual disability, moderate Retrognathia Oligohydramnios Inguinal hernia Arrhythmia Hypospadias Long philtrum Congestive heart failure Anteverted nares Wide nasal bridge Aciduria Interphalangeal joint contracture of finger Cryptorchidism Gastroparesis Focal-onset seizure Choreoathetosis Tachycardia Hyperhidrosis Ventriculomegaly Motor delay Abnormal pulmonary valve morphology Hyperalaninemia Microretrognathia 3-Methylglutaconic aciduria Moderate global developmental delay Abnormal aortic valve morphology Flat occiput Encephalitis Hyperammonemia Aplasia/Hypoplasia of the corpus callosum Low-set ears Involuntary movements Recurrent pneumonia Amyloidosis Renal tubular acidosis Cerebral ischemia Varicose veins Transient ischemic attack Abnormality of visual evoked potentials Optic neuropathy Impaired pain sensation Dyskinesia Stroke-like episode Aphasia Cerebral hemorrhage Personality changes Hemiplegia Abnormal electroretinogram Shock Atherosclerosis Poor head control Infantile muscular hypotonia Cataract Retinal arteriolar tortuosity Abnormal facial shape Growth delay Subdural hemorrhage Scintillating scotoma Nonarteritic anterior ischemic optic neuropathy Recurrent subcortical infarcts Abulia Focal sensory seizure Migraine with aura Diffuse leukoencephalopathy Amaurosis fugax Subcutaneous hemorrhage Mania Perseveration Pseudobulbar paralysis Abnormality of nervous system morphology Hypoventilation Limb muscle weakness Hyperkalemia Bruising susceptibility Flank pain Renal corticomedullary cysts Multiple small medullary renal cysts Tubular basement membrane disintegration Global glomerulosclerosis Pyuria Impaired renal uric acid clearance Renal cortical atrophy Neoplasm Kyphosis Obesity Osteoporosis Osteopenia Carcinoma Round face Tubulointerstitial abnormality Adrenocortical carcinoma Gait ataxia Nystagmus Paradoxical increased cortisol secretion on dexamethasone suppression test Pigmented micronodular adrenocortical disease Primary hypercortisolism Moon facies Decreased circulating ACTH level Hypertrichosis Mood changes Adrenal hyperplasia Increased circulating cortisol level Striae distensae Truncal obesity Thin skin Renal cortical cysts Distal renal tubular acidosis Hypothyroidism Hypercalciuria Elevated hepatic transaminase Muscular hypotonia of the trunk Abnormality of the liver Metabolic acidosis Bradycardia Mutism Weak cry Cardiorespiratory arrest Severe lactic acidosis Increased total bilirubin Proteinuria Stage 5 chronic kidney disease Hematuria Nephrolithiasis Polycystic kidney dysplasia Decreased glomerular filtration rate Tubulointerstitial nephritis Tubulointerstitial fibrosis Thin bony cortex Hemihypertrophy Tubular atrophy Renal salt wasting Fair hair Elevated serum creatinine Glomerulosclerosis Gout Hyperuricemia Nephronophthisis Polyuria Nephritis Polydipsia Autism Rigidity Hyponatremia Abnormality of color vision Diffuse cerebellar atrophy Obsessive-compulsive trait Retrocollis Inertia Impaired tandem gait Ptosis Skeletal muscle atrophy Optic disc pallor Hallucinations Gynecomastia Progressive hearing impairment Sleep apnea Cachexia Diabetes insipidus Iris hypopigmentation Abnormal nerve conduction velocity Epileptic encephalopathy Failure to thrive in infancy CNS hypomyelination Severe muscular hypotonia Fasciculations Renal dysplasia Pachygyria Hepatic steatosis Abnormal cranial nerve morphology Abnormality of the foot Arthrogryposis multiplex congenita Lethargy Short neck Feeding difficulties Abnormality of macular pigmentation Impaired distal vibration sensation Abnormality of brainstem morphology Proximal muscle weakness Limb ataxia Obsessive-compulsive behavior Premature ovarian insufficiency Dysdiadochokinesis Spastic paraparesis Paraparesis Horizontal nystagmus Progressive cerebellar ataxia Mask-like facies Parkinsonism Abnormal cerebellum morphology Postural instability Distal sensory impairment Irritability Myalgia Postural tremor Impotence Pollakisuria Olivopontocerebellar atrophy Poor fine motor coordination Saccadic smooth pursuit Dysesthesia Kinetic tremor Disinhibition Astrocytosis Diffuse cerebral atrophy Global brain atrophy Action tremor Urinary bladder sphincter dysfunction Bipolar affective disorder Resting tremor Abnormality of the thyroid gland Bowel incontinence Athetosis


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