Hypertension, and Muscle weakness

Diseases related with Hypertension and Muscle weakness

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

Top matches:

HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO; ICH Is also known as stroke, hemorrhagic, susceptibility to

Related symptoms:

  • Seizures
  • Hypertension
  • Stroke
  • Lower limb muscle weakness
  • Type II diabetes mellitus


SOURCES: OMIM MESH MENDELIAN

More info about HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO; ICH

Low match LIDDLE SYNDROME

Liddle syndrome is a rare inherited form of hypertension characterized by severe early-onset hypertension associated with decreased plasmatic levels of potassium, renin and aldosterone.

LIDDLE SYNDROME Is also known as pseudohyperaldosteronism type 1|pseudoaldosteronism

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Fatigue
  • Renal insufficiency
  • Arrhythmia


SOURCES: ORPHANET OMIM MENDELIAN

More info about LIDDLE SYNDROME

Familial hyperaldosteronism type II (FH-II) is a heritable form of primary aldosteronism (PA) characterized by hypertension of varying severity, and non glucocticoid remediable hyperaldosteronism.

FAMILIAL HYPERALDOSTERONISM TYPE II Is also known as fh ii|familial adrenal adenoma|familial hyperaldosteronism type 2|fh2|fh-ii

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Headache
  • Nausea
  • Epistaxis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FAMILIAL HYPERALDOSTERONISM TYPE II

Other less relevant matches:

Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH, see this term), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.

AUTOSOMAL DOMINANT PRIMARY HYPOMAGNESEMIA WITH HYPOCALCIURIA Is also known as isolated renal magnesium wasting|isolated autosomal dominant hypomagnesemia|magnesium wasting, renal|homg2|renal hypomagnesemia type 2|magnesium loss, isolated renal

Related symptoms:

  • Seizures
  • Hypertension
  • Fatigue
  • Renal insufficiency
  • Muscle cramps


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL DOMINANT PRIMARY HYPOMAGNESEMIA WITH HYPOCALCIURIA

Pseudohypoaldosteronism type II (PHA2), also known as Gordon hyperkalemia-hypertension syndrome, is characterized by hyperkalemia despite normal renal glomerular filtration, hypertension, and correction of physiologic abnormalities by thiazide diuretics. Mild hyperchloremia, metabolic acidosis, and suppressed plasma renin (OMIM ) activity are variable associated findings (summary by Mansfield et al., 1997). Genetic Heterogeneity of Pseudohypoaldosteronism Type IIPHA2A has been mapped to chromosome 1q31-q42. PHA2B (OMIM ) is caused by mutations in the WNK4 gene on chromosome 17q21 (OMIM ). PHA2C (OMIM ) is caused by mutations in the WNK1 gene on chromosome 12p13 (OMIM ). PHA2D (OMIM ) is caused by mutations in the KLHL3 gene (OMIM ) on chromosome 5q31. PHA2E (OMIM ) is caused by mutations in the CUL3 gene (OMIM ) on chromosome 2q36.Boyden et al. (2012) observed that families with PHA type II due to mutation in the WNK1 gene (PHA2C) are significantly less severely affected than those with mutation in WNK4 (PHA2B) or dominant or recessive mutation in the KLHL3 gene (PHA2D), and all are less severely affected than those with dominant mutations in the CUL3 gene (PHA2E).

PSEUDOHYPOALDOSTERONISM, TYPE IIA; PHA2A Is also known as hypertensive hyperkalemia, familial|hyperpotassemia and hypertension, familial|gordon hyperkalemia-hypertension syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Cognitive impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about PSEUDOHYPOALDOSTERONISM, TYPE IIA; PHA2A

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

Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter).

PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE Is also known as ppnad|primary pigmented nodular adrenal dysplasia|cushing syndrome, adrenal, due to ppnad3

Related symptoms:

  • Short stature
  • Muscle weakness
  • Hypertension
  • Skeletal muscle atrophy
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE

Porphyria of doss or deficiency of delta-aminolevulinic acid dehydratase (DALAD) is an extremely rare form of acute hepatic porphyria (see this term) characterized by neuro-visceral attacks without cutaneous manifestations.

PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY Is also known as porphyria due to alad deficiency|doss porphyria|delta-aminolevulinate dehydratase deficiency|alad porphyria|porphyria, alad|porphyria of doss|alad deficiency|porphyria due to delta-aminolevulinate dehydratase deficiency|porphobilinogen synthase deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PORPHYRIA DUE TO ALA DEHYDRATASE DEFICIENCY

ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY Is also known as adrenal hyperplasia v|17-alpha-hydroxylase deficiency

Related symptoms:

  • Muscle weakness
  • Cryptorchidism
  • Hypertension
  • Myopathy
  • Headache


SOURCES: OMIM ORPHANET MENDELIAN

More info about ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Hypertension and Muscle weakness

Symptoms // Phenotype % cases
Fatigue Uncommon - Between 30% and 50% cases
Hypokalemia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Acidosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Decreased circulating renin level Metabolic alkalosis Adrenal hyperplasia

Rare Symptoms - Less than 30% cases

Short stature Metabolic acidosis Global developmental delay Respiratory insufficiency Pain Abdominal pain Respiratory failure Lactic acidosis Failure to thrive Myopathy Increased circulating cortisol level Generalized muscle weakness Increased serum lactate Hyperaldosteronism Constipation Headache Alkalosis Renal insufficiency Decreased activity of the pyruvate dehydrogenase complex Pigmented micronodular adrenocortical disease Paresthesia Behavioral abnormality Diarrhea Vomiting Pulmonary arterial hypertension Peripheral neuropathy Recurrent hypoglycemia Anemia Muscular hypotonia Decreased activity of mitochondrial respiratory chain Skeletal muscle atrophy Slender build Stroke Hemolytic anemia Striae distensae Increased susceptibility to fractures Thin skin Diabetes mellitus Hypogonadism Osteoporosis Lower limb muscle weakness Tachycardia Polyneuropathy Sensory neuropathy Amenorrhea Hypokalemic alkalosis Female pseudohermaphroditism Congenital adrenal hyperplasia Perineal hypospadias Male pseudohermaphroditism Secondary amenorrhea Bifid scrotum Failure to thrive in infancy Accelerated skeletal maturation Gynecomastia Primary amenorrhea Ambiguous genitalia Feeding difficulties in infancy Lethargy Micropenis Hypospadias Abnormality of metabolism/homeostasis Cryptorchidism Elevated urinary delta-aminolevulinic acid Abdominal colic Wrist drop Respiratory paralysis Motor axonal neuropathy Hyponatremia Hemiparesis Psychosis Peripheral demyelination Feeding difficulties Irritability Hypocalciuria Hyperkalemia Abnormality of dental enamel Hypoplasia of dental enamel Nausea and vomiting Paralysis Nausea Abnormality of the dentition Cognitive impairment Growth delay Epistaxis Renal magnesium wasting Dysesthesia Decreased circulating aldosterone level Chronic fatigue Chondrocalcinosis Hypomagnesemia Pulmonary embolism Tinnitus Muscle cramps Secretory adrenocortical adenoma Abnormal circulating renin Dexamethasone-suppresible primary hyperaldosteronism Glucocortocoid-insensitive primary hyperaldosteronism Abnormality of the adrenal glands Renal salt wasting Periodic paralysis Hypoglycemia Decreased fetal movement Intracranial hemorrhage Type II diabetes mellitus Decreased activity of mitochondrial complex IV Caesarian section Decreased activity of mitochondrial complex I Increased serum pyruvate Severe lactic acidosis Poor appetite Abnormality of mitochondrial metabolism Ragged-red muscle fibers Bradycardia Cerebral hemorrhage Pseudohypoaldosteronism Polyhydramnios Arrhythmia Congestive heart failure Edema Nephropathy Cerebral ischemia Hypokalemic metabolic alkalosis Hyperkalemic metabolic acidosis Hyperchloremic acidosis Hyperchloremia Periodic hyperkalemic paralysis Hyperchloremic metabolic acidosis Adrenogenital syndrome


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