Congestive heart failure, and Cholestasis

Diseases related with Congestive heart failure and Cholestasis

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


Top matches:

Medium match CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II


Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II Is also known as dyserythropoietic anemia, congenital, type ii|cda ii|sec23b-cdg|hempas|hereditary erythroblastic multinuclearity with positive acidified-serum test|cda type ii|cda type 2|hereditary erythroblastic multinuclearity with a positive acidified-serum test (hemp

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Congestive heart failure
  • Splenomegaly
  • Arrhythmia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II

Low 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

Low match AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE


Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Is also known as polycystic kidney and hepatic disease 1|polycystic kidney disease, infantile, type i|pkhd1|arpkd|ar-pkd|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease|pkd3, formerly

Related symptoms:

  • Micrognathia
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

Mendelian

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

Learn more

Other less relevant matches:

Low 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

Low match JUVENILE POLYPOSIS SYNDROME; JPS


Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005).It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (OMIM ), the same gene that is mutant in Cowden syndrome-1 (OMIM ). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.

JUVENILE POLYPOSIS SYNDROME; JPS Is also known as polyposis, juvenile intestinal|pji|jip|juvenile intestinal polyposis|polyposis, familial, of entire gastrointestinal tract

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Pain
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS SYNDROME; JPS

Low match TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY


Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY

Low match MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY


Mitochondrial trifunctional protein (TFP) deficiency (TFPD) is a disorder of fatty acid oxidation characterized by a wide clinical spectrum ranging from severe neonatal manifestations including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a mild phenotype with peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy..

MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY Is also known as tfpd|tfp deficiency

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Motor delay
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY

Low match PRIMARY SCLEROSING CHOLANGITIS


Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.

PRIMARY SCLEROSING CHOLANGITIS Is also known as psc

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fever
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY SCLEROSING CHOLANGITIS

Low match COG7-CDG


COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.

COG7-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iie|congenital disorder of glycosylation type 2e|cdg iie|cdg syndrome type iie|cdg2e|congenital disorder of glycosylation type iie|cdg-iie|cdgiie

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COG7-CDG

Low match KAWASAKI DISEASE


Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.

KAWASAKI DISEASE Is also known as kd|infantile polyarteritis|mucocutaneous lymph node syndrome

Related symptoms:

  • Sensorineural hearing impairment
  • Ptosis
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KAWASAKI DISEASE

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

Symptoms // Phenotype % cases
Jaundice Common - Between 50% and 80% cases
Fatigue Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Abnormality of the liver 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 Cholestasis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Anemia Fever Hepatosplenomegaly Portal hypertension Peripheral neuropathy Respiratory distress Cardiomyopathy Ascites Failure to thrive Diarrhea Respiratory insufficiency Dilatation Headache Hypoalbuminemia Abdominal pain Hypertension Cholelithiasis Arrhythmia Muscular hypotonia Areflexia Cirrhosis Elevated hepatic transaminase

Rare Symptoms - Less than 30% cases


Abnormality of immune system physiology Renal insufficiency Respiratory failure Scarring Dehydration Oligohydramnios Hepatic fibrosis Cholangitis Hematemesis Global developmental delay Respiratory tract infection Hepatitis Hypertrophic cardiomyopathy Osteoporosis Arthralgia Vertigo Hepatocellular carcinoma Recurrent infections Pain Cerebral atrophy Motor delay Micrognathia Muscle weakness Generalized hypotonia Proteinuria Cholecystitis Behavioral abnormality Chest pain Atrial septal defect Ischemic stroke Inflammation of the large intestine Pleural effusion Pancreatitis Type I diabetes mellitus Conjunctivitis Generalized amyotrophy Pruritus Autoimmunity Osteopenia Weight loss Encephalopathy Arteritis Abnormal pericardium morphology Glossitis Amyloidosis Abnormality of the thyroid gland Celiac disease Thyroiditis Uveitis Acute hepatic failure Ulcerative colitis Cholestatic liver disease Prolonged prothrombin time Histiocytosis Vitamin D deficiency Abnormal eosinophil morphology Sclerosing cholangitis Vitamin E deficiency Cholangiocarcinoma Vitamin A deficiency Conjunctival hyperemia Depressivity CSF pleocytosis Myalgia Lactic acidosis Lethargy Dilated cardiomyopathy Small for gestational age Feeding difficulties in infancy Apnea Strawberry tongue Pigmentary retinopathy Hypoglycemia Elevated serum creatine phosphokinase Central nervous system degeneration Aseptic leukocyturia Congenital hemolytic anemia Chronic hemolytic anemia Muscle cramps Hydrops fetalis Cervical lymphadenopathy Coronary artery aneurysm Prenatal maternal abnormality Recurrent myoglobinuria Abnormality of the amniotic fluid Hypoketotic hypoglycemia Myoglobinuria Rhabdomyolysis Abnormality of nail color Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Arthralgia/arthritis Pyuria Hyperammonemia Infantile muscular hypotonia Exercise intolerance Abnormal emotion/affect behavior Vitamin K deficiency Abnormal oral mucosa morphology Chronic hepatic failure Nausea and vomiting Premature skin wrinkling Areflexia of lower limbs Tubulointerstitial nephritis Abnormal glycosylation Mild proteinuria Sensorineural hearing impairment Ptosis Edema Aortic root aneurysm Arthritis Irritability Erythema Acute kidney injury Skin rash Pericarditis Inverted nipples Interstitial pulmonary abnormality Cranial nerve paralysis Scaling skin Meningitis Hyponatremia Leukocytosis Coronary artery atherosclerosis Decreased liver function Abnormal heart valve morphology Mitral regurgitation Myocardial infarction Elevated erythrocyte sedimentation rate Migraine Hematuria Lymphadenopathy Distal arthrogryposis Protruding tongue Vasculitis Abnormal large intestine physiology Growth delay Microcephaly Adenocarcinoma of the large intestine Dilated superficial abdominal veins Recurrent systemic pyogenic infections Neoplasm of the gallbladder Spider hemangioma Abnormality of the skeletal system Polyclonal elevation of IgM Elevated alkaline phosphatase of hepatic origin Synovitis Ascending tubular aorta aneurysm Palmar telangiectasia Abnormal biliary tract morphology Feeding difficulties Cheilitis Adducted thumb Abnormal posturing Delayed myelination Myocarditis Polyneuropathy Thick vermilion border Flat face Arthrogryposis multiplex congenita Allergy Short neck Abnormal myocardium morphology Recurrent pharyngitis Inflammatory abnormality of the eye Abnormal heart morphology Thrombocytopenia Elevated C-reactive protein level Abnormality of the pinna Kyphosis Normochromic anemia Pulmonary hypoplasia Polycystic kidney dysplasia Chronic kidney disease Renal hypoplasia/aplasia Abnormal lung morphology Depressed nasal ridge Renal cyst Stage 5 chronic kidney disease Multiple renal cysts Abnormality of the kidney Low-set, posteriorly rotated ears Macrotia Ventricular septal defect Pulmonic valve myxoma Cardiac myxoma Enlarged kidney Chronic lung disease Increased inflammatory response Hypersplenism Alopecia Absence of renal corticomedullary differentiation Azotemia Hypoplasia of the ear cartilage Periportal fibrosis Potter facies Portal fibrosis Atelectasis Biliary tract abnormality Tubulointerstitial fibrosis Hepatic cysts Pancreatic cysts Congenital hepatic fibrosis Esophageal varix Bacterial endocarditis Orthopnea Diabetes mellitus Congenital hypoplastic anemia Cognitive impairment Reduced activity of N-acetylglucosaminyltransferase II Endopolyploidy on chromosome studies of bone marrow Increased red cell osmotic fragility Increased hemoglobin Increased total bilirubin Chronic myelogenous leukemia Abnormality of skin pigmentation Anemia of inadequate production Gout Reticulocytosis Prolonged neonatal jaundice Hyperbilirubinemia Leukemia Confusion Coma Endocarditis Exertional dyspnea Pulmonary edema Edema of the lower limbs Subarachnoid hemorrhage Growth hormone excess Dilatation of the cerebral artery Thromboembolism Cerebral hemorrhage Syncope Tricuspid regurgitation Heart murmur Easy fatigability Neoplasm of the skin Cardiomegaly Mitral valve prolapse Hypogonadism Retinopathy Nonspherocytic hemolytic anemia Hyperreflexia Hyporeflexia Dystonia Myopathy Gait disturbance Tremor Skeletal muscle atrophy Spasticity Recurrent respiratory infections Hepatic vascular malformations Adenocarcinoma of the colon Duodenal adenocarcinoma Multiple gastric polyps Intussusception Melena Babinski sign Pallor Stomach cancer Involuntary movements Normocytic anemia Diaphragmatic paralysis Macrocytic anemia Decreased nerve conduction velocity Respiratory insufficiency due to muscle weakness Progressive muscle weakness Intention tremor Abnormal pyramidal sign Optic disc pallor Neuronal loss in central nervous system Dyskinesia Hemolytic anemia Unsteady gait Limb muscle weakness Hamartomatous polyposis Rectal prolapse Hepatic steatosis Increased serum ferritin Hernia Macrocephaly Cryptorchidism Neoplasm Abnormality of the hypothalamus-pituitary axis Chondrocalcinosis Exocrine pancreatic insufficiency Umbilical hernia Arthropathy Impotence Joint dislocation Gynecomastia Hyperpigmentation of the skin Limitation of joint mobility Dyspnea Carcinoma Intestinal polyposis Clubbing Clubbing of fingers Hematochezia Hemoptysis Polycythemia Hamartoma Colon cancer Hypokalemia Stroke Diplopia Telangiectasia Epistaxis Cyanosis Gastrointestinal hemorrhage Cough Abnormal gallbladder morphology



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Optic disc pallor, related diseases and genetic alterations Feeding difficulties and Synophrys, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more