Hypertension, and Increased serum lactate

Diseases related with Hypertension and Increased serum lactate

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

Top matches:

Combined oxidative phosphorylation deficiency-28 (COXPD28) is a complex autosomal recessive multisystem disorder associated with mitochondrial dysfunction. The phenotype is variable, but includes episodic metabolic decompensation beginning in infancy that can result in mild muscle weakness, cardiorespiratory insufficiency, developmental delay, or even death. Biochemical studies of patient tissues show variable mitochondrial defects, including decreased activities of respiratory chain enzymes (summary by Kishita et al., 2015).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT Is also known as combined oxidative phosphorylation defect type 28|coxpd28

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Pain
  • Hypertension


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL SEVERE CARDIOPULMONARY FAILURE DUE TO MITOCHONDRIAL METHYLATION DEFECT

Multiple mitochondrial dysfunctions syndrome is a severe autosomal recessive disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death (summary by Seyda et al., 2001). Genetic Heterogeneity of Multiple Mitochondrial Dysfunctions SyndromeSee also MMDS2 (OMIM ), caused by mutation in the BOLA3 gene (OMIM ) on chromosome 2p13; MMDS3 (OMIM ), caused by mutation in the IBA57 gene (OMIM ) on chromosome 1q42; MMDS4 (OMIM ), caused by mutation in the ISCA2 gene (OMIM ) on chromosome 14q24; MMDS5 (OMIM ), caused by mutation in the ISCA1 gene (OMIM ) on chromosome 9q21; and MMDS6 (OMIM ), caused by mutation in the PMPCB gene (OMIM ) on chromosome 7q22.

MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1; MMDS1 Is also known as mmds

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1; MMDS1

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

Other less relevant matches:

Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.

MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS Is also known as mtdna-related cardiomyopathy and hearing loss|trna-lys-related cardiomyopathy-hearing loss syndrome|maternally-inherited cardiomyopathy and deafness

Related symptoms:

  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS

Congenital thrombotic thrombocytopenic purpura is the hereditary form of thrombotic thrombocytopenic purpura (TTP; see this term) characterized by profound peripheral thrombocytopenia, microangiopathic hemolytic anemia (MAHA) and single or multiple organ failure of variable severity.

CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA Is also known as congenital ttp|microangiopathic hemolytic anemia|thrombotic microangiopathy, familial|microangiopathic hemolytic anemia, congenital|congenital adamts-13 deficiency|upshaw factor, deficiency of|uss|thrombotic thrombocytopenic purpura, familial|familial ttp

Related symptoms:

  • Seizures
  • Pain
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL THROMBOTIC THROMBOCYTOPENIC PURPURA

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

A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by Mayr et al., 2010). Genetic Heterogeneity of Mitochondrial Complex V DeficiencyOther nuclear types of mitochondrial complex V deficiency include MC5DN2 (OMIM ), caused by mutation in the TMEM70 gene (OMIM ) on chromosome 8q21; MC5DN3 (OMIM ), caused by mutation in the ATP5E gene (ATP5F1E ) on chromosome 20q13; MC5DN4 (OMIM ), caused by mutation in the ATP5A1 gene (ATP5FA1 ) on chromosome 18q; and MC5DN5 (OMIM ), caused by mutation in the ATP5D gene (ATP5F1D ) on chromosome 19p13.Mutations in the mitochondrial-encoded MTATP6 (OMIM ) and MTATP8 (OMIM ) genes can also cause mitochondrial complex V deficiency (see, e.g., {551500} and {500003}).

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 Is also known as mitochondrial complex v (atp synthase) deficiency, atpaf2 type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1

Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.

CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME Is also known as mtdps10|sengers syndrome|cardiomyopathy and cataract|mitochondrial dna depletion syndrome 10 (cardiomyopathic type)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY 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

Complex IV (cytochrome c oxidase; {EC 1.9.3.1}) is the terminal enzyme of the respiratory chain and consists of 13 polypeptide subunits, 3 of which are encoded by mitochondrial DNA. The 3 mitochondrially encoded proteins in the cytochrome oxidase complex are the actual catalytic subunits that carry out the electron transport function (Saraste, 1983). See {123995} for discussion of some of the nuclear-encoded subunits.Shoubridge (2001) provided a comprehensive review of cytochrome c oxidase deficiency and noted that most isolated COX deficiencies are inherited as autosomal recessive disorders caused by mutations in nuclear-encoded genes; mutations in the mtDNA-encoded COX subunit genes are relatively rare.

ISOLATED CYTOCHROME C OXIDASE DEFICIENCY Is also known as isolated mitochondrial respiratory chain complex iv deficiency|cox deficiency|isolated cox deficiency|cytochrome c oxidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED CYTOCHROME C OXIDASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Hypertension and Increased serum lactate

Symptoms // Phenotype % cases
Acidosis Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Lactic acidosis Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hypertension and Increased serum lactate. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Respiratory insufficiency Congestive heart failure Respiratory failure Pulmonary arterial hypertension Hypertrophic cardiomyopathy Muscle weakness Cardiomyopathy Muscular hypotonia Metabolic acidosis Feeding difficulties Hepatomegaly Aciduria Microcephaly Ataxia Encephalopathy Fatigue Intellectual disability Decreased liver function Hemiparesis Myopathy Coma Respiratory distress Severe muscular hypotonia Growth delay Anemia Exercise intolerance Cerebral cortical atrophy Severe lactic acidosis 3-Methylglutaconic aciduria Hyperammonemia Ragged-red muscle fibers

Rare Symptoms - Less than 30% cases

Thrombocytopenia Hyperkalemia Generalized muscle weakness Proteinuria Arrhythmia Renal insufficiency Headache Oligohydramnios Cardiac arrest Vomiting Tremor Strabismus Leukoencephalopathy Cryptorchidism Microvesicular hepatic steatosis Renal hypoplasia Increased CSF lactate Renal tubular acidosis Low-set ears Mitochondrial myopathy Flexion contracture Hypospadias Hepatic steatosis Short philtrum Neonatal hypotonia Retrognathia Abnormal facial shape Cataract Tachypnea Wide mouth Short stature Abnormality of the kidney Motor delay Weak cry Cardiorespiratory arrest Decreased activity of mitochondrial respiratory chain Sensorineural hearing impairment Delayed myelination Lethargy Jaundice Irritability Muscular hypotonia of the trunk Peripheral neuropathy Hyperreflexia Increased serum pyruvate Abnormality of cardiovascular system morphology Cerebellar atrophy Dyspnea Mental deterioration Pain Bradycardia Abdominal pain Abnormality of mitochondrial metabolism Infantile axial hypotonia Hypoplasia of the brainstem Abnormal muscle fiber protein expression Progressive encephalopathy Myotonia Exercise-induced lactic acidemia Right ventricular hypertrophy Polyuria Meningocele Organic aciduria Glycosuria Skeletal myopathy Inferior vermis hypoplasia Fatty replacement of skeletal muscle Thoracolumbar scoliosis Exertional dyspnea Abnormal myelination Periventricular leukomalacia Premature ovarian insufficiency Esotropia Spastic hemiparesis Glaucoma Increased intramyocellular lipid droplets Osteopenia Feeding difficulties in infancy Proximal renal tubular acidosis Stroke Congenital cataract Cytochrome C oxidase-negative muscle fibers Corneal dystrophy Abnormal electroretinogram Renal Fanconi syndrome Hepatic encephalopathy Respiratory arrest Thoracolumbar kyphosis Eosinophilia Easy fatigability Hyperphosphaturia Recurrent upper respiratory tract infections Renal tubular dysfunction Depletion of mitochondrial DNA in muscle tissue Progressive neurologic deterioration Wide nasal bridge Kyphoscoliosis Ptosis Dysarthria Skeletal muscle atrophy Optic atrophy Ventriculomegaly Kyphosis Dilatation Cerebellar hypoplasia Poor suck Poor head control Respiratory insufficiency due to muscle weakness Scoliosis Apnea Aminoaciduria Congenital hip dislocation Hip dislocation Generalized tonic-clonic seizures Limb muscle weakness Hepatic failure Tetraplegia Pigmentary retinopathy Spastic tetraplegia Status epilepticus Spasticity Abnormal pulmonary valve morphology Intrauterine growth retardation Small for gestational age Spinal muscular atrophy Progressive muscle weakness Anteverted nares Long philtrum Polydipsia Hemiplegia Inguinal hernia Umbilical hernia Intellectual disability, moderate Camptodactyly of finger Flat face Gastroparesis Premature birth Interphalangeal joint contracture of finger Intention tremor Microretrognathia Aplasia/Hypoplasia of the corpus callosum Encephalitis Flat occiput Abnormal aortic valve morphology Hypercalciuria Moderate global developmental delay Hyperalaninemia Apathy Renal dysplasia Myopia Lower limb pain Chest pain Febrile seizures EMG abnormality Slurred speech Ophthalmoparesis Multiple lipomas Progressive sensorineural hearing impairment Progressive external ophthalmoplegia Mild global developmental delay Increased adipose tissue Myalgia Fever Diarrhea Pallor Paralysis Skin rash Nausea and vomiting Confusion Nausea Hemolytic anemia Hematuria Dilated cardiomyopathy Intellectual disability, severe Hyperbilirubinemia Decreased activity of the pyruvate dehydrogenase complex Edema Polyhydramnios Decreased fetal movement Poor appetite Decreased activity of mitochondrial complex I Caesarian section Decreased activity of mitochondrial complex IV Hypoglycemia Peripheral demyelination Recurrent hypoglycemia Hypertonia Gait disturbance Dystonia Elevated hepatic transaminase Developmental regression Abnormality of the liver Abnormality of the cerebral white matter Abnormality of extrapyramidal motor function Tetraparesis Spastic tetraparesis Mutism Increased total bilirubin Abnormal bleeding Purpura Nystagmus Tongue fasciculations Epileptic encephalopathy Pachygyria Fasciculations CNS hypomyelination Chronic kidney disease Failure to thrive in infancy Hyponatremia Hypoventilation Breech presentation Micrognathia Abnormality of the foot Frontal bossing Abnormal heart morphology Camptodactyly Prominent nasal bridge Pulmonic stenosis Cardiomegaly Aortic valve stenosis Spontaneous abortion Rocker bottom foot Severe failure to thrive Renal cyst Arthrogryposis multiplex congenita Glomerulonephritis Neonatal hyperbilirubinemia Personality changes Prolonged neonatal jaundice Acute kidney injury Autoimmune thrombocytopenia Reticulocytosis Microscopic hematuria Elevated serum creatinine Preeclampsia Abnormal renal physiology Hemolytic-uremic syndrome Bloody diarrhea Myoclonus Increased blood urea nitrogen Microangiopathic hemolytic anemia Schistocytosis Hearing impairment Short neck Hypoplasia of the corpus callosum Cerebral atrophy Absent speech Areflexia Hyporeflexia Increased hepatocellular lipid droplets


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