Congestive heart failure, and Ascites

Diseases related with Congestive heart failure and Ascites

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


Top matches:

Medium match PULMONARY HYPERTENSION, PRIMARY, 1; PPH1


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

Medium match FAMILIAL ATRIAL MYXOMA


Familial atrial myxoma is a rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling mesenchyme) in several members of a family. Clinical presentation depends on the size, mobility and location of tumor, ranging from nonspecific and/or constitutional symptoms to sudden cardiac death, and includes dyspnea, hemoptisis, syncope, fatigue, fever, cutaneous rash, increases in venous pressure and/or peripheral edema.

FAMILIAL ATRIAL MYXOMA Is also known as atrial myxoma, familial

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Fever
  • Atrial septal defect
  • Congestive heart failure


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FAMILIAL ATRIAL MYXOMA

Medium match FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE


FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE Is also known as fatal congenital hypertrophic cardiomyopathy due to glycogenosis|fatal congenital hypertrophic cardiomyopathy due to gsd|phosphorylase kinase deficiency of heart|glycogen storage disease of heart

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY


Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.

MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY Is also known as cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|coxpd10|combined oxidative phosphorylation defect type 10

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY

Medium match GLYCOGEN STORAGE DISEASE IV; GSD4


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

Medium match SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1


Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.

SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1 Is also known as symptomatic form of hfe-related hereditary hemochromatosis|symptomatic form of classic hemochromatosis

Related symptoms:

  • Peripheral neuropathy
  • Hepatomegaly
  • Fatigue
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF HEMOCHROMATOSIS TYPE 1

Medium match KLIPPEL-TRÉNAUNAY SYNDROME


Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Hepatomegaly
  • Macrocephaly
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about KLIPPEL-TRÉNAUNAY SYNDROME

Medium match HEMOCHROMATOSIS, TYPE 1; HFE1


Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3.Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. Genetic Heterogeneity of HemochromatosisAt least 4 additional iron overload disorders labeled hemochromatosis have been identified on the basis of clinical, biochemical, and genetic characteristics. Juvenile hemochromatosis, or hemochromatosis type 2 (HFE2), is autosomal recessive and is divided into 2 forms: HFE2A (OMIM ), caused by mutation in the HJV gene (OMIM ) on chromosome 1q21, and HFE2B (OMIM ), caused by mutation in the HAMP gene (OMIM ) on chromosome 19q13. Hemochromatosis type 3 (HFE3 ), an autosomal recessive disorder, is caused by mutation in the TFR2 gene (OMIM ) on chromosome 7q22. Hemochromatosis type 4 (HFE4 ), an autosomal dominant disorder, is caused by mutation in the SLC40A1 gene (OMIM ) on chromosome 2q32. Hemochromatosis type 5 (HFE5 ) is caused by mutation in the FTH1 gene (OMIM ) on chromosome 11q12.

HEMOCHROMATOSIS, TYPE 1; HFE1 Is also known as hfe|hemochromatosis, hereditary|hemochromatosis|hh

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEMOCHROMATOSIS, TYPE 1; HFE1

Medium match ADAMS-OLIVER SYNDROME 5; AOS5


Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 5; AOS5

Medium match TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1


Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Epistaxis and gastrointestinal bleeding are frequent complications of mucosal involvement. Visceral involvement includes that of the lung, liver, and brain. The most frequent form of hereditary hemorrhagic telangiectasia maps to the long arm of chromosome 9. Genetic Heterogeneity of Hereditary Hemorrhagic TelangiectasiaSee also HHT2 (OMIM ), caused by mutation in the ALK1 gene (ACVRL1 ) on chromosome 12q13; HHT3 (OMIM ), mapped to chromosome 5q31; HHT4 (OMIM ), mapped to chromosome 7p14; and HHT5 (OMIM ), caused by mutation in the GDF2 gene (OMIM ) on chromosome 10q11.See also juvenile polyposis/HHT syndrome (OMIM ), caused by mutation in the SMAD4 gene (OMIM ).

TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1 Is also known as telangiectasia, hereditary hemorrhagic, of rendu, osler, and weber|orw disease|hht|osler-rendu-weber disease

Related symptoms:

  • Seizures
  • Anemia
  • Hypertension
  • Congestive heart failure
  • Headache


SOURCES: OMIM MENDELIAN

More info about TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1

Top 5 symptoms//phenotypes associated to Congestive heart failure and Ascites

Symptoms // Phenotype % cases
Hepatomegaly Common - Between 50% and 80% cases
Cardiomegaly Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Cirrhosis Uncommon - Between 30% and 50% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Congestive heart failure and Ascites. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertension Splenomegaly Abnormality of the liver Hepatic failure Muscle weakness Portal hypertension Esophageal varix Telangiectasia Encephalopathy Cyanosis Generalized hypotonia Fatigue Ischemic stroke Edema Failure to thrive Dyspnea Myopathy

Rare Symptoms - Less than 30% cases


Motor delay Muscular hypotonia Subarachnoid hemorrhage Ataxia Pulmonary edema Global developmental delay Intellectual disability Sinus bradycardia Exercise intolerance Bradycardia Hypertrophic cardiomyopathy Arrhythmia Hypoglycemia Hepatic fibrosis Pleural effusion Hyperpigmentation of the skin Stroke Anemia Gastrointestinal hemorrhage Hematuria Increased serum ferritin Hepatocellular carcinoma Arthropathy Impotence Hepatic steatosis Peripheral neuropathy Arthralgia Diabetes mellitus Hypogonadism Osteoporosis Alopecia Cerebral hemorrhage Hydrops fetalis Dilated cardiomyopathy Proximal muscle weakness Exertional dyspnea Pain Cognitive impairment Headache Chest pain Sudden cardiac death Hypotension Vertigo Pulmonary arterial hypertension Atrial septal defect Right ventricular hypertrophy Respiratory distress Edema of the lower limbs Heart murmur Spontaneous, recurrent epistaxis Hemoptysis Hemangiomatosis Cholestasis Epistaxis Right ventricular failure Scleroderma Ventricular hypertrophy Abnormal tricuspid valve morphology Dilatation Brachydactyly Ventricular septal defect Syndactyly Hyperactivity Hernia Abnormal heart morphology Inguinal hernia Elevated transferrin saturation Umbilical hernia Abnormal cardiac septum morphology Attention deficit hyperactivity disorder Severe global developmental delay Abnormality of the cerebral white matter Pulmonic stenosis Hip dysplasia Coarctation of aorta Small nail Short stature Tricuspid regurgitation Aceruloplasminemia Abnormal joint morphology Recurrent infections Abdominal pain Osteopenia Elevated hepatic transaminase Carcinoma Arthritis Amenorrhea Hepatitis Insulin resistance Hypogonadotrophic hypogonadism Azoospermia Osteomalacia Constrictive pericarditis Pericarditis Increased reactive oxygen species production Acute hepatic failure Neoplasm of the liver Restrictive cardiomyopathy Testicular atrophy Alcoholism Abnormal glucose tolerance Microvesicular hepatic steatosis Increased serum iron Cholangiocarcinoma Hyperammonemia Spastic diplegia Patent foramen ovale Pulmonary arteriovenous malformation Hematemesis Melena Venous malformation Arteriovenous fistula Focal sensory seizure Polycystic liver disease Pulmonary hemorrhage Gastrointestinal angiodysplasia Lip telangiectasia Cerebral arteriovenous malformation Coronary artery aneurysm Right-to-left shunt Brain abscess Spinal arteriovenous malformation Migraine with aura Hepatic arteriovenous malformation Arteriovenous fistulas of celiac and mesenteric vessels Palate telangiectasia Tongue telangiectasia High-output congestive heart failure Nasal mucosa telangiectasia Visual auras Fingerpad telangiectases Nail bed telangiectasia Venous varicosities of celiac and mesenteric vessels Dilatation of mesenteric artery Gastrointestinal telangiectasia Dilatation of celiac artery Conjunctival telangiectasia Hypoxemia Cutis marmorata Cutis marmorata telangiectatica congenita Abnormality of the coagulation cascade Neoplasm Aplasia cutis congenita Oligodactyly Progressive proximal muscle weakness Dystrophic toenail Calcinosis Prominent superficial veins Aplasia cutis congenita of scalp Cavernous hemangioma Hypersplenism Portal vein thrombosis Prominent scalp veins Chronic hepatic failure Hematochezia Calcinosis cutis Right atrial enlargement Visual loss Nausea Migraine Atherosclerosis Elevated alkaline phosphatase Clubbing Pericardial effusion Polycythemia Thrombocytosis Abnormality of the vasculature Transient ischemic attack Recurrent respiratory infections Cellulitis Abnormality of skeletal morphology Small for gestational age Growth delay Pulmonary artery vasoconstriction Pulmonary aterial intimal fibrosis Spasticity Feeding difficulties Pulmonary arterial medial hypertrophy Optic atrophy Dystonia Arterial intimal fibrosis Elevated right atrial pressure Acidosis Poor speech Shortened PR interval Lactic acidosis Tachycardia Metabolic acidosis Increased serum lactate Infantile muscular hypotonia Pulmonary capillary hemangiomatosis Aspiration pneumonia Ketonuria Wolff-Parkinson-White syndrome Severe lactic acidosis Hyperalaninemia Fever Biventricular hypertrophy Flexion contracture Mitral valve prolapse Easy fatigability Thromboembolism Dilatation of the cerebral artery Growth hormone excess Neoplasm of the skin Endocarditis Orthopnea Increased inflammatory response Bacterial endocarditis Cardiac myxoma Pulmonic valve myxoma Syncope Behavioral abnormality Micrognathia Abnormal facial shape Coma Abnormality of skin pigmentation Confusion Myalgia Jaundice Macroglossia Neonatal hypoglycemia Enlarged kidney Myoglobinuria Decreased activity of mitochondrial respiratory chain Skeletal muscle atrophy Peripheral arteriovenous fistula Venous thrombosis Gynecomastia Joint dislocation Exocrine pancreatic insufficiency Chondrocalcinosis Abnormality of the hypothalamus-pituitary axis Microcephaly Macrocephaly Respiratory insufficiency Patent ductus arteriosus Cough Tall stature Hemangioma Retinopathy Prolonged bleeding time Microcytic anemia Pulmonary embolism Abnormality of the skull Hypercoagulability Lower limb asymmetry Venous insufficiency Abnormality of the pulmonary artery Abnormality of the menstrual cycle Upper limb asymmetry Internal hemorrhage Limitation of joint mobility Palpitations Talipes equinovarus Abnormal thrombosis Hyporeflexia Polyhydramnios Hepatosplenomegaly Difficulty walking Increased pulmonary vascular resistance Hyperlordosis Muscular dystrophy Arthrogryposis multiplex congenita Limb muscle weakness Waddling gait Decreased fetal movement Decreased liver function Abnormal lung morphology Reduced tendon reflexes Limb-girdle muscular dystrophy Akinesia Myopathic facies Difficulty climbing stairs Fetal akinesia sequence Capillary hemangioma Generalized edema Tubulointerstitial fibrosis Limb joint contracture Acrocyanosis Hoarse voice Gastrointestinal arteriovenous malformation



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Encephalocele, related diseases and genetic alterations Myopia and Postaxial polydactyly, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more