Hypertension, and Generalized muscle weakness

Diseases related with Hypertension and Generalized muscle weakness

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

Top 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

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

Medium match RIGID SPINE SYNDROME

Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.

RIGID SPINE SYNDROME Is also known as minicore myopathy, severe classic form|mdrs1|desmin-related myopathy with mallory bodies|multiminicore disease, severe classic form|myopathy, sepn1-related|rigid spine syndrome|muscular dystrophy, congenital, eichsfeld type|rigid spine congenital muscular

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about RIGID SPINE SYNDROME

Other less relevant matches:

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). Genetic Heterogeneity of Bartter SyndromeAntenatal Bartter syndrome type 1 (OMIM ) is caused by loss-of-function mutations in the butmetanide-sensitive Na-K-2Cl cotransporter NKCC2 (SLC12A1 ). Antenatal Bartter syndrome type 2 (OMIM ) is caused by loss-of-function mutations in the ATP-sensitive potassium channel ROMK (KCNJ1 ). One form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4A (OMIM ), is caused by mutation in the BSND gene (OMIM ). Another form of neonatal Bartter syndrome with sensorineural deafness, Bartter syndrome type 4B (OMIM ), is caused by simultaneous mutation in both the CLCNKA (602024) and CLCNKB (602023) genes.Also see autosomal dominant hypocalcemia-1 with Bartter syndrome (OMIM ), which is sometimes referred to as Bartter syndrome type 5 (Fremont and Chan, 2012), caused by mutation in the CASR gene (OMIM ).See Gitelman syndrome (GTLMN ), which is often referred to as a mild variant of Bartter syndrome, caused by mutation in the thiazide-sensitive sodium-chloride cotransporter SLC12A3 (OMIM ).

BARTTER SYNDROME, TYPE 3; BARTS3 Is also known as bartter syndrome, classic

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 3; BARTS3

Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some can present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by Glaudemans et al., 2012). Gitelman syndrome is sometimes referred to as a mild variant of classic Bartter syndrome (OMIM ).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

GITELMAN SYNDROME; GTLMNS Is also known as hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria|potassium and magnesium depletion

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GITELMAN SYNDROME; GTLMNS

GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age.

GM1 GANGLIOSIDOSIS TYPE 2 Is also known as late-infantile gm1 gangliosidosis|gangliosidosis, generalized gm1, type ii|juvenile gm1 gangliosidosis|gangliosidosis, generalized gm1, type 2|gangliosidosis, generalized gm1, juvenile type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about GM1 GANGLIOSIDOSIS TYPE 2

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

Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).

SINGLETON-MERTEN DYSPLASIA Is also known as singleton-merten syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SINGLETON-MERTEN DYSPLASIA

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

Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (OMIM ) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 Is also known as berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy|lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

Top 5 symptoms//phenotypes associated to Hypertension and Generalized muscle weakness

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Myopathy Growth delay Short stature Motor delay Vomiting Muscular hypotonia Congestive heart failure Hypokalemia Intellectual disability Exercise intolerance Scoliosis Metabolic alkalosis Hypokalemic alkalosis Fever Tachycardia Hepatomegaly Hypercalciuria Skeletal muscle atrophy Respiratory insufficiency Cardiomyopathy Pain Rigidity Respiratory arrest Alkalosis Osteopenia Hypocalciuria Fatigue Polyuria Hypomagnesemia Abnormal facial shape Arrhythmia Muscle cramps Ataxia Feeding difficulties Chondrocalcinosis

Rare Symptoms - Less than 30% cases

Coxa valga Cardiac arrest Ventricular tachycardia Strabismus Right ventricular hypertrophy Thoracolumbar scoliosis Myopia Respiratory distress Polydipsia Spinal rigidity Glaucoma Increased variability in muscle fiber diameter Acidosis Sensorineural hearing impairment Hepatosplenomegaly Palpitations Kyphosis Renal salt wasting Dehydration Hypotension Hypertrophic cardiomyopathy Increased circulating renin level Hypokalemic metabolic alkalosis Spastic tetraplegia Dilatation Prolonged QT interval Renal potassium wasting Ventriculomegaly Optic atrophy Spasticity Constipation Hepatic steatosis Tetraplegia Growth hormone deficiency Ventricular arrhythmia Poor head control Feeding difficulties in infancy Headache Talipes equinovarus Neonatal hypotonia Respiratory failure Aciduria Edema Pulmonary arterial hypertension Recurrent infections Flexion contracture Proximal muscle weakness Hemiparesis Mitochondrial myopathy Tachypnea Hip dislocation Hyperaldosteronism Accelerated skeletal maturation Failure to thrive in infancy Osteoporosis Secondary amenorrhea Anemia Renal magnesium wasting Limb muscle weakness Lactic acidosis Hyperlordosis Ptosis Apnea Increased serum lactate Waddling gait Renal insufficiency Ventricular hypertrophy Progressive muscle weakness Muscular dystrophy Recurrent respiratory infections Congenital hip dislocation Visual loss Encephalopathy Pes cavus Dysarthria Abnormal muscle fiber protein expression Proteinuria Kyphoscoliosis Depletion of mitochondrial DNA in muscle tissue Hepatic failure Abnormality of the dentition Decreased liver function Progressive neurologic deterioration Status epilepticus Pigmentary retinopathy Coma Muscular hypotonia of the trunk Metabolic acidosis Irritability Generalized tonic-clonic seizures Hyperreflexia Broad forehead Microcephaly Epiphora Subvalvular aortic stenosis Onycholysis Osteolytic defects of the phalanges of the hand High anterior hairline Periodontitis Heart block Psoriasiform dermatitis Shallow acetabular fossae Scaling skin Osteolysis Smooth philtrum Hypoplasia of the maxilla Decreased body weight Cutaneous photosensitivity Muscle fiber atrophy Aortic valve calcification Expanded phalanges with widened medullary cavities Hypoplasia of the tooth germ Expanded metacarpals with widened medullary cavities Thin upper lip vermilion Joint laxity Hypoplastic distal radial epiphyses Expanded metatarsals with widened medullary cavities Aortic arch calcification Cardiomegaly Hip subluxation Carious teeth Tendon rupture Dentinogenesis imperfecta limited to primary teeth Unerupted tooth Premature loss of permanent teeth Genu valgum Mitral valve calcification Aortic valve stenosis Spastic hemiparesis Aminoaciduria Polycystic ovaries Reduced subcutaneous adipose tissue Mildly elevated creatine phosphokinase Cutis marmorata Skeletal muscle hypertrophy Ventricular fibrillation Lipodystrophy Hyperinsulinemia Prominent supraorbital ridges Pyloric stenosis Reduced bone mineral density IgA deficiency Delayed gross motor development Pancreatitis Atherosclerosis Hyperlipidemia Acanthosis nigricans Recurrent bacterial infections Pointed chin Muscle stiffness Bradycardia Lipoatrophy Protuberant abdomen Insulin resistance Abnormal levels of creatine kinase in blood Muscle mounding Abnormality of skeletal muscle fiber size Cervical spine instability Generalized muscle hypertrophy Prominent umbilicus Abnormality of upper lip Congenital generalized lipodystrophy Atlantoaxial instability Polymorphic ventricular tachycardia Fasting hyperinsulinemia Progressive proximal muscle weakness Loss of subcutaneous adipose tissue in limbs Dysmenorrhea Atlantoaxial dislocation Prolonged QTc interval Generalized lipodystrophy Ileus Exercise-induced myalgia Prominent superficial veins Supraventricular tachycardia Sparse and thin eyebrow Long eyelashes Severe muscular hypotonia Weak cry Hepatic encephalopathy Microvesicular hepatic steatosis Thoracolumbar kyphosis Periventricular leukomalacia Hyperphosphaturia Increased CSF lactate Renal tubular dysfunction Progressive encephalopathy Renal tubular acidosis Glycosuria Cytochrome C oxidase-negative muscle fibers Exertional dyspnea Myotonia Spinal muscular atrophy Apathy Hemiplegia Poor suck Hyperammonemia Leukoencephalopathy Respiratory insufficiency due to muscle weakness Renal Fanconi syndrome Proximal renal tubular acidosis Thin skin Postnatal growth retardation Hypertriglyceridemia Atrial fibrillation Epidermal acanthosis Sudden cardiac death Hirsutism Spastic paraplegia Distal muscle weakness Joint stiffness Protruding ear Myalgia Increased intramyocellular lipid droplets Elevated hepatic transaminase Hypothyroidism Diabetes mellitus Delayed skeletal maturation Elevated serum creatine phosphokinase Splenomegaly Abnormality of the skeletal system Dysphagia Increased hepatocellular lipid droplets Infantile axial hypotonia Exercise-induced lactic acidemia Abnormality of the spleen Inferior vermis hypoplasia Abnormality of skeletal morphology Small for gestational age Arthritis Polyhydramnios Hearing impairment Cardiac conduction abnormality Abnormality on pulmonary function testing Type 1 and type 2 muscle fiber minicore regions Limited neck flexion Premature birth Hamstring contractures Minicore myopathy Crackles Orthopnea Nocturnal hypoventilation Muscle fiber necrosis Peroneal muscle atrophy Chest pain Anorexia Axial muscle weakness Azotemia Abnormality of prostaglandin metabolism Impaired reabsorption of chloride Secondary hyperaldosteronism Abnormal sclera morphology Hyperchloriduria Hyperactive renin-angiotensin system Increased urinary potassium Abnormal choroid morphology Hypocalcemia Abnormality of the retinal vasculature Hyperphosphatemia Polycythemia Hyperkalemia Rickets Glomerulonephritis Hypercalcemia Nephrocalcinosis Reduced vital capacity Abnormality of the rib cage Abdominal pain Primary amenorrhea Decreased circulating renin level Perineal hypospadias Adrenal hyperplasia Male pseudohermaphroditism Increased circulating cortisol level Bifid scrotum Gynecomastia Ambiguous genitalia Female pseudohermaphroditism Amenorrhea Micropenis Hypospadias Abnormality of metabolism/homeostasis Cryptorchidism Dysesthesia Chronic fatigue Pulmonary embolism Congenital adrenal hyperplasia Adrenogenital syndrome Restrictive deficit on pulmonary function testing Congenital muscular dystrophy Cor pulmonale Malignant hyperthermia Hypoventilation Neck muscle weakness Hip contracture Generalized amyotrophy High pitched voice Gowers sign High palate Nasal speech Elbow flexion contracture Arthrogryposis multiplex congenita Abnormality of the cerebral white matter Cough Facial palsy Pneumonia Hyporeflexia Diarrhea Arthralgia Fatty replacement of skeletal muscle Progressive psychomotor deterioration Cerebellar hypoplasia Thrombocytopenia Cataract Nystagmus Decreased beta-galactosidase activity Sea-blue histiocytosis Lumbar kyphosis Decerebrate rigidity Mental deterioration Vacuolated lymphocytes Loss of ability to walk Psychomotor deterioration Visceromegaly Developmental stagnation Loss of speech Brisk reflexes Dyspnea Stroke Paraparesis Hypoplasia of the brainstem Decreased activity of mitochondrial respiratory chain Abnormal myelination 3-Methylglutaconic aciduria Skeletal myopathy Organic aciduria Cardiorespiratory arrest Meningocele Abnormality of mitochondrial metabolism Congenital cataract Premature ovarian insufficiency Abnormal electroretinogram Recurrent upper respiratory tract infections Easy fatigability Eosinophilia Ragged-red muscle fibers Corneal dystrophy Esotropia Spastic paraparesis Abnormality of the face Anxiety Postural instability Enuresis Hyperventilation Episodic fever Rhabdomyolysis Blurred vision Hyperkinesis Inflammatory abnormality of the skin Nephropathy Periodic paralysis Nausea Vertigo Confusion Paresthesia Delayed puberty Nausea and vomiting Paralysis Erythema Tetany Pollakisuria Clumsiness Babinski sign Generalized myoclonic seizures Neurodegeneration Platyspondyly Abnormality of the liver Developmental regression Prominent forehead Posteriorly rotated ears Cerebral atrophy Hypovolemia Blindness Anteverted nares Gait disturbance Epicanthus Depressed nasal bridge Salt craving Hypochloremia Nocturia Adipose tissue loss


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