Hypertension, and Ascites

Diseases related with Hypertension and Ascites

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

Top matches:

Focal segmental glomerulosclerosis (FSGS) is a pathologic finding in several renal disorders that manifest clinically as proteinuria and progressive decline in renal function. Some patients with FSGS develop the clinical entity called 'nephrotic syndrome' (see NPHS1; {256300}), which includes massive proteinuria, hypoalbuminemia, hyperlipidemia, and edema. However, patients with FSGS may have proteinuria in the nephrotic range without other features of the nephrotic syndrome (summary by D'Agati et al., 2004; Mathis et al., 1998).D'Agati et al. (2011) provided a detailed review of FSGS, emphasizing that the disorder results from defects of the podocyte.Because of confusion in the literature regarding use of the terms 'nephrotic syndrome' and 'focal segmental glomerulosclerosis' (see NOMENCLATURE section), these disorders in OMIM are classified as NPHS or FSGS according to how they were first designated in the literature. Genetic Heterogeneity of Focal Segmental Glomerulosclerosis and Nephrotic SyndromeFocal segmental glomerulosclerosis and nephrotic syndrome are genetically heterogeneous disorders representing a spectrum of hereditary renal diseases. See also FSGS2 (OMIM ), caused by mutation in the TRPC6 gene (OMIM ); FSGS3 (OMIM ), associated with variation in the CD2AP gene (OMIM ); FSGS4 (OMIM ), mapped to chromosome 22q12; FSGS5 (OMIM ), caused by mutation in the INF2 gene (OMIM ); FSGS6 (OMIM ), caused by mutation in the MYO1E gene (OMIM ); FSGS7 (OMIM ), caused by mutation in the PAX2 gene (OMIM ); FSGS8 (OMIM ), caused by mutation in the ANLN gene (OMIM ); and FSGS9 (OMIM ), caused by mutation in the CRB2 gene (OMIM ).See also NPHS1 (OMIM ), caused by mutation in the NPHS1 gene (OMIM ); NPHS2 (OMIM ), caused by mutation in the podocin gene (OMIM ); NPHS3 (OMIM ), caused by mutation in the PLCE1 gene (OMIM ); and NPHS4 (OMIM ), caused by mutation in the WT1 gene (OMIM ).

FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1 Is also known as glomerulosclerosis, focal segmental, 1

Related symptoms:

  • Hearing impairment
  • Pain
  • Anemia
  • Hypertension
  • Edema


SOURCES: OMIM MESH MENDELIAN

More info about FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1; FSGS1

Medium match CAROLI DISEASE

Caroli disease (CD) is a rare congenital liver disease characterized by non-obstructive cystic dilatations of the intra-hepatic and rarely extra-hepatic bile ducts.

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fever
  • Vomiting


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CAROLI DISEASE

Medium match CARNEY TRIAD

Carney's triad is a rare non-hereditary condition characterized by gastrointestinal stromal tumors (GIST, intramural mesenchymal tumors of the gastrointestinal tract with neuronal or neural crest cell origin), pulmonary chondromas and extraadrenal paragangliomas.

CARNEY TRIAD Is also known as gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma

Related symptoms:

  • Anemia
  • Hypertension
  • Fatigue
  • Diarrhea
  • Headache


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CARNEY TRIAD

Other less relevant matches:

Related symptoms:

  • Seizures
  • Anemia
  • Hypertension
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM MENDELIAN

More info about HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA; HLASA

Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms.

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME Is also known as hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome

Related symptoms:

  • Hypertension
  • Respiratory distress
  • Abnormality of the dentition
  • Alopecia
  • Hyperhidrosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME

Medium match BUDD-CHIARI SYNDROME

Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow involving either the hepatic veins or the terminal segment of the inferior vena cava.

Related symptoms:

  • Neoplasm
  • Pain
  • Hypertension
  • Hepatomegaly
  • Fever


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BUDD-CHIARI SYNDROME

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

Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. Wolman disease is very rare, with an incidence of less than one in 100,000 live births. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a very wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001).

LYSOSOMAL ACID LIPASE DEFICIENCY Is also known as lal deficiency|cholesterol ester hydrolase deficiency|cholesteryl ester storage disease|lipa deficiency|cesd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYSOSOMAL ACID LIPASE DEFICIENCY

GLYCOGEN STORAGE DISEASE IV; GSD4 Is also known as andersen disease|brancher deficiency|gbe1 deficiency|amylopectinosis|gsd iv|glycogen branching enzyme deficiency|cirrhosis, familial, with deposition of abnormal glycogen|glycogenosis iv

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IV; GSD4

Primary biliary cholangitis (PBC) is a chronic and slowly progressive cholestatic liver disease of autoimmune etiology characterized by injury of the intrahepatic bile ducts that may eventually lead to liver failure.

PRIMARY BILIARY CHOLANGITIS Is also known as pbc|hanot syndrome|primary biliary cirrhosis

Related symptoms:

  • Hypertension
  • Fatigue
  • Diarrhea
  • Encephalopathy
  • Osteoporosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY BILIARY CHOLANGITIS

Top 5 symptoms//phenotypes associated to Hypertension and Ascites

Symptoms // Phenotype % cases
Portal hypertension Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Cirrhosis Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Edema Esophageal varix Abdominal pain Fever Fatigue Diarrhea Weight loss Hepatic failure Malabsorption Scarring Hepatic fibrosis Jaundice

Rare Symptoms - Less than 30% cases

Hepatocellular carcinoma Hepatosplenomegaly Gastrointestinal hemorrhage Failure to thrive Arrhythmia Hydrops fetalis Abdominal distention Decreased liver function Abnormality of the liver Cholangitis Acute hepatic failure Generalized hypotonia Cholestasis Hypoalbuminemia Congestive heart failure Pruritus Respiratory distress Telangiectasia Dyspnea Vomiting Hyperlipidemia Abnormality of lipid metabolism Pulmonary arterial hypertension Sudden cardiac death Confusion Nausea Splenomegaly Periportal fibrosis Leukodystrophy Bone-marrow foam cells Adrenal calcification Increased body weight Steatorrhea Atherosclerosis Low-grade fever Hypercholesterolemia Cachexia Hyperlipoproteinemia Foam cells Protuberant abdomen Malnutrition Vacuolated lymphocytes Hearing impairment Hypertriglyceridemia Pulmonary capillary hemangiomatosis Right ventricular hypertrophy Edema of the lower limbs Abnormal thrombosis Right ventricular failure Abnormal tricuspid valve morphology Spontaneous, recurrent epistaxis Increased pulmonary vascular resistance Hemangiomatosis Elevated right atrial pressure Hepatic steatosis Arterial intimal fibrosis Pulmonary arterial medial hypertrophy Pulmonary aterial intimal fibrosis Pulmonary artery vasoconstriction Short stature Hernia Umbilical hernia Developmental regression Muscle weakness Proximal muscle weakness Muscular hypotonia Antinuclear antibody positivity Autoimmunity Sleep disturbance Hepatitis Hyperpigmentation of the skin Elevated alkaline phosphatase Abnormality of the thyroid gland Orthostatic hypotension Celiac disease Osteomalacia Keratoconjunctivitis sicca Xerostomia Excessive daytime somnolence Encephalopathy Allergy Conjugated hyperbilirubinemia Biliary cirrhosis Cholestatic liver disease Fat malabsorption Hepatic encephalopathy Recurrent fungal infections Increased IgA level Onychomycosis Gastrointestinal inflammation Increased IgM level Dermatographic urticaria Osteoporosis Limb joint contracture Flexion contracture Dilated cardiomyopathy Peripheral neuropathy Skeletal muscle atrophy Talipes equinovarus Cardiomyopathy Myopathy Hyporeflexia Polyhydramnios Difficulty walking Acrocyanosis Hyperlordosis Muscular dystrophy Arthrogryposis multiplex congenita Tubulointerstitial fibrosis Limb muscle weakness Waddling gait Decreased fetal movement Exercise intolerance Reduced tendon reflexes Limb-girdle muscular dystrophy Akinesia Myopathic facies Difficulty climbing stairs Exertional dyspnea Fetal akinesia sequence Generalized edema Capillary hemangioma Reduced protein C activity Hemoptysis Respiratory insufficiency Pheochromocytoma Paraganglioma Adrenocortical adenoma Mediastinal lymphadenopathy Leiomyosarcoma Gastrointestinal stroma tumor Adrenal overactivity Seizures Intrauterine growth retardation Ventricular septal defect Thrombocytopenia Anorexia Patent ductus arteriosus Acidosis EEG abnormality Lactic acidosis Metabolic acidosis Oligohydramnios Pericardial effusion Extramedullary hematopoiesis Sideroblastic anemia Abnormality of the dentition Pulmonary infiltrates Tachycardia Hyperhidrosis Microalbuminuria Renal insufficiency Proteinuria Stage 5 chronic kidney disease Hematuria Nephrotic syndrome Chronic kidney disease Glomerulosclerosis Focal segmental glomerulosclerosis Microscopic hematuria Ocular pain Congenital nephrotic syndrome Lymphadenopathy Dilatation Abnormality of the kidney Renal cyst Polycystic kidney dysplasia Episodic fever Epigastric pain Liver abscess Cholangiocarcinoma Headache Nausea and vomiting Alopecia Erythema Scleroderma Recurrent respiratory infections Polycythemia Thromboembolism Varicose veins Hypercoagulability Peritonitis Cholecystitis Gastrointestinal infarctions Portal vein thrombosis Budd-Chiari syndrome Hepatic vein thrombosis Cough Myocardial infarction Vertigo Chest pain Hypotension Cyanosis Cardiomegaly Epistaxis Ventricular hypertrophy Palpitations Abnormal lung morphology Hoarse voice Intestinal obstruction Stroke Sparse hair Sparse body hair Hypotrichosis Nevus Sparse scalp hair Thin skin Lymphedema Abnormality of the nail Dermal atrophy Pleural effusion Absent eyebrow Cutis marmorata Palpebral edema Carcinoma Absent eyelashes Hydrocele testis Nonimmune hydrops fetalis Alopecia totalis Toenail dysplasia Abnormality of the lymphatic system Predominantly lower limb lymphedema Palmar telangiectasia Plantar telangiectasia Neoplasm Elevated hepatic transaminase Abnormality of the intrahepatic bile duct


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