Edema, and Hypotension

Diseases related with Edema and Hypotension

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

Top matches:

Congenital analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).

Related symptoms:

  • Neoplasm
  • Fatigue
  • Edema
  • Osteoporosis
  • Carcinoma


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL ANALBUMINEMIA

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

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

Other less relevant matches:

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

Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein.

ATTRV122I AMYLOIDOSIS Is also known as attr cardiomyopathy|attrv122i-related amyloidosis|transthyretin-related familial amyloid cardiomyopathy|transthyretin amyloid cardiopathy|ttr-related amyloid cardiomyopathy|ttr-related cardiac amyloidosis

Related symptoms:

  • Muscle weakness
  • Cardiomyopathy
  • Diarrhea
  • Congestive heart failure
  • Arrhythmia


SOURCES: ORPHANET MENDELIAN

More info about ATTRV122I AMYLOIDOSIS

Generalized pseudohypoaldosteronism type 1 (generalized PHA1) is a severe form of primary mineralocorticoid resistance with systemic involvement and salt loss in multiple organs.

GENERALIZED PSEUDOHYPOALDOSTERONISM TYPE 1 Is also known as pha i, autosomal recessive|autosomal recessive pseudohypoaldosteronism type 1

Related symptoms:

  • Failure to thrive
  • Vomiting
  • Diarrhea
  • Recurrent respiratory infections
  • Acidosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about GENERALIZED PSEUDOHYPOALDOSTERONISM TYPE 1

Malignant mesothelioma is a fatal asbestos-associated malignancy arising in the lining cells (mesothelium) of the pleural and peritoneal cavities, as well as in the pericardium and the tunica vaginalis.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about PLEURAL MESOTHELIOMA

Primary pulmonary arterial hypertension is a rare, often fatal, progressive vascular lung disease characterized by increased pulmonary vascular resistance and sustained elevation of mean pulmonary arterial pressure, leading to right ventricular hypertrophy and right heart failure. Pathologic features include a narrowing and thickening of small pulmonary vessels and plexiform lesions. There is pulmonary vascular remodeling of all layers of pulmonary arterial vessels: intimal thickening, smooth muscle cell hypertrophy or hyperplasia, adventitial fibrosis, and occluded vessels by in situ thrombosis (summary by Machado et al., 2009 and Han et al., 2013).Heterozygous mutations in the BMPR2 gene are found in nearly 70% of families with heritable PPH and in 25% of patients with sporadic disease. The disease is more common in women (female:male ratio of 1.7:1). However, the penetrance of PPH1 is incomplete: only about 10 to 20% of individuals with BMPR2 mutations develop the disease during their lifetime, suggesting that development of the disorder is triggered by other genetic or environmental factors. Patients with PPH1 are less likely to respond to acute vasodilater testing and are unlikely to benefit from treatment with calcium channel blockade (summary by Machado et al., 2009 and Han et al., 2013). Genetic Heterogeneity of Primary Pulmonary HypertensionPPH2 (OMIM ) is caused by mutation in the SMAD9 gene (OMIM ) on chromosome 13q13; PPH3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ) on chromosome 7q31; and PPH4 (OMIM ) is caused by mutation in the KCNK3 gene (OMIM ) on chromosome 2p23.See {265400} for a possible autosomal recessive form of PPH.Primary pulmonary hypertension may also be found in association with hereditary hemorrhagic telangiectasia type 1 (HHT1 ), caused by mutation in the ENG gene (OMIM ), and HHT2 (OMIM ), caused by mutation in the ACVRL1 (ALK1) gene (OMIM ).

PULMONARY HYPERTENSION, PRIMARY, 1; PPH1 Is also known as pulmonary arterial hypertension|pht|pah

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fatigue
  • Respiratory distress


SOURCES: OMIM ORPHANET MENDELIAN

More info about PULMONARY HYPERTENSION, PRIMARY, 1; PPH1

Dopamine beta-hydroxylase deficiency is an extremely rare genetic metabolic disorder characterized by autonomic dysregulation leading mainly to orthostatic hypotension.

DOPAMINE BETA-HYDROXYLASE DEFICIENCY Is also known as norepinephrine deficiency|noradrenaline deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Pain
  • Ptosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DOPAMINE BETA-HYDROXYLASE DEFICIENCY

Familial glucocorticoid deficiency is a rare autosomal recessive disorder characterized by an inability of the adrenal cortex to produce cortisol in response to stimulation by adrenocorticotropic hormone (ACTH). Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, hypoglycemia, convulsions, and shock. The disease is life-threatening if untreated (summary by Meimaridou et al., 2012).For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (OMIM ).

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Cryptorchidism
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about GLUCOCORTICOID DEFICIENCY 4 WITH OR WITHOUT MINERALOCORTICOID DEFICIENCY; GCCD4

Top 5 symptoms//phenotypes associated to Edema and Hypotension

Symptoms // Phenotype % cases
Vomiting Common - Between 50% and 80% cases
Dehydration Common - Between 50% and 80% cases
Increased circulating renin level Uncommon - Between 30% and 50% cases
Renal salt wasting Uncommon - Between 30% and 50% cases
Hyperkalemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Hypotension. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hyponatremia Failure to thrive Diarrhea Neoplasm Pain Orthostatic hypotension Metabolic acidosis Acidosis

Rare Symptoms - Less than 30% cases

Hepatomegaly Vertigo Pseudohypoaldosteronism Hyperactive renin-angiotensin system Hypoglycemia Cardiomyopathy Congestive heart failure Seizures Edema of the lower limbs Right ventricular hypertrophy Respiratory distress Hypertension Fatigue Chest pain Recurrent respiratory infections Ascites Cough Dyspnea Hyperaldosteronism Abnormal lung morphology Growth delay Fever Decreased circulating aldosterone level Feeding difficulties Failure to thrive in infancy Feeding difficulties in infancy Ptosis Muscular hypotonia High palate Osteoporosis Pulmonary artery vasoconstriction Pulmonary aterial intimal fibrosis Pulmonary arterial medial hypertrophy Arterial intimal fibrosis Elevated right atrial pressure Pulmonary capillary hemangiomatosis Generalized hypotonia Spontaneous, recurrent epistaxis Hemangiomatosis Increased pulmonary vascular resistance Abnormal tricuspid valve morphology Right ventricular failure Abnormal thrombosis Capillary hemangioma Acrocyanosis Hemoptysis Scleroderma Hoarse voice Telangiectasia Palpitations Ventricular hypertrophy Epistaxis Peripheral neuropathy Increased body weight Myalgia Cryptorchidism Hypoglycemic coma Primary adrenal insufficiency Congenital hypothyroidism Adrenal insufficiency Apathy Precocious puberty Shock Azoospermia Hyperpigmentation of the skin Coma Hypertrophic cardiomyopathy Hypothyroidism Retrograde ejaculation Abnormality of the nervous system Intermittent hypothermia Nocturia Multiple myeloma Recurrent hypoglycemia Hypothermia Neonatal hypoglycemia Amyloidosis Blurred vision Epiphora Abnormal autonomic nervous system physiology Syncope Cardiomegaly Pulmonary arterial hypertension Carcinoma Cyanosis Exertional dyspnea Anemia Recurrent lower respiratory tract infections Orthostatic syncope Abnormal ventricular filling Cardiac amyloidosis Peripheral edema Biventricular hypertrophy Atrial arrhythmia Abnormal echocardiogram Reduced ejection fraction Severe failure to thrive Heart block Pericardial effusion Dysphagia Impotence EMG: myopathic abnormalities Exercise intolerance Atrial fibrillation Peripheral axonal neuropathy Paresthesia Abnormal cardiac septum morphology Constipation Arrhythmia Muscle weakness Episodic fever Renal tubular dysfunction Asthenia Hypercoagulability Sudden cardiac death Abnormality of the pleura Cirrhosis Short stature Small for gestational age Pericardial mesothelioma Peritoneal mesothelioma Pleural mesothelioma Obstruction of the superior vena cava Malignant mesothelioma Constitutional symptom Fourth cranial nerve palsy Functional respiratory abnormality Abnormality of cardiovascular system physiology Night sweats Abdominal pain Intestinal obstruction Oral-pharyngeal dysphagia Abnormality of the thorax Pleural effusion Hyperlipidemia Atherosclerosis Hypercholesterolemia Nausea Lymphadenopathy Hypoalbuminemia Lipodystrophy Weight loss Hypernatriuria


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