Abnormality of the skeletal system, and Hypotension

Diseases related with Abnormality of the skeletal system and Hypotension

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Hypotension that can help you solving undiagnosed cases.

Top matches:

Orthostatic hypotension-2 is an autosomal recessive disorder characterized by severe orthostatic hypotension, recurrent hypoglycemia, and low norepinephrine levels. The disorder has onset in infancy or early childhood. Some patients may also have renal dysfunction and reduced life expectancy. The disorder results from a defect in the biosynthesis of norepinephrine from dopamine due to a cofactor deficiency.For a discussion of genetic heterogeneity of ORTHYP, see ORTHYP1 (OMIM ).

Related symptoms:

  • Anemia
  • Hypoglycemia
  • Vertigo
  • Tachycardia
  • Hypotension


SOURCES: OMIM MENDELIAN

More info about ORTHOSTATIC HYPOTENSION 2; ORTHYP2

Related symptoms:

  • Neoplasm
  • Hypertension
  • Abnormality of metabolism/homeostasis
  • Depressivity
  • Hypotension


SOURCES: MESH OMIM MENDELIAN

More info about DRUG METABOLISM, POOR, CYP2D6-RELATED

CMO type II deficiency is an autosomal recessive disorder caused by a defect in the final biochemical step of aldosterone biosynthesis, the 18-hydroxylation of 18-hydroxycorticosterone (18-OHB) to aldosterone. This enzymatic defect results in decreased aldosterone and salt-wasting associated with an increased serum ratio of 18-OHB to aldosterone. In CMO II deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-OHB. These patients have a low ratio of corticosterone to 18-OHB (Portrat-Doyen et al., 1998).The CYP11B2 gene product also catalyzes an earlier step in aldosterone biosynthesis: the 18-hydroxylation of corticosterone to 18-OHB. A defect in that enzymatic step results in CMO type I deficiency (OMIM ), an allelic disorder with an overlapping phenotype but distinct biochemical features. In CMO I deficiency, aldosterone is undetectable, whereas its immediate precursor, 18-OHB, is low or normal (Portrat-Doyen et al., 1998).

CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY Is also known as cmo ii deficiency|steroid 18-oxidase deficiency|18-oxidase deficiency|fhha1b|aldosterone deficiency due to deficiency of steroid 18-oxidase|hyperreninemic hypoaldosteronism, familial, 1|aldosterone deficiency ii

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Acidosis
  • Metabolic acidosis
  • Dehydration


SOURCES: OMIM MENDELIAN

More info about CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY

Other less relevant matches:

The Pickering school held that blood pressure has a continuous distribution, that multiple genes and multiple environmental factors determine the level of one's blood pressure just as the determination of stature and intelligence is multifactorial, and that 'essential hypertension' is merely the upper end of the distribution (Pickering, 1978). In this view the person with essential hypertension is one who happens to inherit an aggregate of genes determining hypertension (and also is exposed to exogenous factors that favor hypertension). The Platt school took the view that essential hypertension is a simple mendelian dominant trait (Platt, 1963). McDonough et al. (1964) defended the monogenic idea. See McKusick (1960) and Kurtz and Spence (1993) for reviews. Swales (1985) reviewed the Platt-Pickering controversy as an 'episode in recent medical history.' The Pickering point of view appears to be more consistent with the observations.

HYPERTENSION, ESSENTIAL Is also known as eht

Related symptoms:

  • Hypertension
  • Hypertonia
  • Small for gestational age
  • Hypotension
  • Malnutrition


SOURCES: OMIM MENDELIAN

More info about HYPERTENSION, ESSENTIAL

A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart palpitations, sweating, anxiety, lightheadedness, hyperpnea, anxiety, and blurred vision.

POSTURAL ORTHOSTATIC TACHYCARDIA SYNDROME DUE TO NET DEFICIENCY Is also known as pots due to net deficiency|orthostatic intolerance due to net deficiency|neurocirculatory asthenia|mitral valve prolapse syndrome|familial orthostatic tachycardia due to norepinephrine transporter deficiency|soldiers heart|irritable heart

Related symptoms:

  • Fatigue
  • Anxiety
  • Irritability
  • Vertigo
  • Nausea


SOURCES: OMIM ORPHANET MENDELIAN

More info about POSTURAL ORTHOSTATIC TACHYCARDIA SYNDROME DUE TO NET DEFICIENCY

CMO type I deficiency is an autosomal recessive disorder caused by a defect in the penultimate biochemical step of aldosterone biosynthesis, the 18-hydroxylation of corticosterone (B) to 18-hydroxycorticosterone (18-OHB). This enzymatic defect results in decreased aldosterone and salt-wasting. In CMO I deficiency, aldosterone is undetectable, whereas its immediate precursor, 18-OHB, is low or normal. These patients have an increased ratio of corticosterone to 18-OHB (Portrat-Doyen et al., 1998).The CYP11B2 gene product also catalyzes the final step in aldosterone biosynthesis: the 18-oxidation of 18-OHB to aldosterone. A defect in that enzymatic step results in CMO type II deficiency (OMIM ), an allelic disorder with an overlapping phenotype but distinct biochemical features. In CMO II deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-OHB. These patients have a low ratio of corticosterone to 18-OHB (Portrat-Doyen et al., 1998).

FAMILIAL HYPERRENINEMIC HYPOALDOSTERONISM TYPE 1 Is also known as steroid 18-hydroxylase deficiency|cmo i|aldosterone deficiency due to defect in steroid 18-hydroxylase|18-hydroxylase deficiency|18-oxidase deficiency|aldosterone deficiency i|fhha1|hyperreninemic hypoaldosteronism, familial, 1|aldosterone synthase defici

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Feeding difficulties
  • Fever
  • Vomiting


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL HYPERRENINEMIC HYPOALDOSTERONISM TYPE 1

Corticosteroid-binding globulin deficiency is a rare, genetic, adrenal disease characterized by diminished corticosteroid-binding capacity associated with normal or low plasma corticosteroid-binding globulin concentration and reduced total plasma cortisol levels. Patients typically present chronic pain, fatigue and hypo/hypertension.

CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY Is also known as transcortin deficiency|cbg deficiency

Related symptoms:

  • Pain
  • Hypertension
  • Fatigue
  • Abnormality of metabolism/homeostasis
  • Depressivity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY

Chuvash erythrocytosis is a rare, genetic, congenital secondary polycythemia disorder characterized by increased hemoglobin, hematocrit and erythropoietin serum levels and normal oxygen affinity, which usually manifests with headache, dizziness, dyspnea and/or plethora. Patients present an increased risk of hemorrhage, thrombosis and early death.

CHUVASH ERYTHROCYTOSIS Is also known as polycythemia, vhl-dependent|polycythemia, chuvash type|erythrocytosis, autosomal recessive benign|von hippel-lindau-dependent polycythemia|chuvash polycythemia

Related symptoms:

  • Fatigue
  • Headache
  • Stroke
  • Hypotension
  • Hemangioma


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CHUVASH ERYTHROCYTOSIS

Related symptoms:

  • Muscle weakness
  • Fatigue
  • Cardiomyopathy
  • Myopathy
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1I; CMD1I

Renal pseudohypoaldosteronism type 1 (renal PHA1) is a mild form of primary mineralocorticoid resistance restricted to the kidney.

RENAL PSEUDOHYPOALDOSTERONISM TYPE 1 Is also known as autosomal dominant pseudohypoaldosteronism type 1|pha i, autosomal dominant

Related symptoms:

  • Short stature
  • Failure to thrive
  • Feeding difficulties
  • Vomiting
  • Diarrhea


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL PSEUDOHYPOALDOSTERONISM TYPE 1

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Hypotension

Symptoms // Phenotype % cases
Fatigue Uncommon - Between 30% and 50% cases
Hyponatremia Uncommon - Between 30% and 50% cases
Dehydration Uncommon - Between 30% and 50% cases
Orthostatic hypotension Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Abnormality of the skeletal system and Hypotension. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Increased circulating renin level Failure to thrive Renal salt wasting Hyperkalemia

Rare Symptoms - Less than 30% cases

Asthenia Feeding difficulties Vomiting Pseudohypoaldosteronism Hyperaldosteronism Decreased circulating aldosterone level Chronic fatigue Failure to thrive in infancy Abnormality of metabolism/homeostasis Metabolic acidosis Vertigo Acidosis Growth delay Depressivity Abnormality of the vasculature Myopathy Varicose veins Cardiomyopathy Muscle weakness Increased hemoglobin Congestive heart failure Peripheral thrombosis Increased red blood cell mass Increased hematocrit Plethora Anemia Atrial flutter Dyspnea Dilated cardiomyopathy Sudden cardiac death Cardiomegaly Ventricular hypertrophy Atrial fibrillation Left ventricular hypertrophy Cerebral hemorrhage Reduced systolic function Ventricular escape rhythm Mildly reduced ejection fraction Short stature Diarrhea Increased body weight Renal tubular dysfunction Polycythemia Fever Hemangioma Anxiety Tachycardia Recurrent hypoglycemia Neoplasm Schizophrenia Severe failure to thrive Hypertonia Small for gestational age Malnutrition Large placenta Elevated systolic blood pressure Elevated diastolic blood pressure Elevated mean arterial pressure Irritability Stroke Nausea Mitral valve prolapse Orthostatic tachycardia Hypoglycemia Feeding difficulties in infancy Episodic fever Pain Confusion Hepatic steatosis Increased circulating cortisol level Chronic pain Increased muscle fatiguability Headache Hyperactive renin-angiotensin system


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