Congestive heart failure, and Jaundice

Diseases related with Congestive heart failure and Jaundice

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Jaundice 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

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 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

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Other less relevant matches:

Medium 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

Medium 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

Medium 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

Medium 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

Medium match LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY


Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.

LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lchad deficiency|long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency|lchadd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

Medium match MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD


Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Medium match ALAGILLE SYNDROME 1; ALGS1


Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Abnormality of the liver Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Elevated hepatic transaminase Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Fatigue Fever Cholestasis Muscular hypotonia Hypertrophic cardiomyopathy Generalized hypotonia Areflexia Headache Anemia Pain Hypertension Diarrhea Hepatosplenomegaly Abdominal pain Cholestatic liver disease Portal hypertension Macrocephaly Respiratory distress Cardiomyopathy Intellectual disability Hypoalbuminemia Coma Myopathy Feeding difficulties Arrhythmia Respiratory tract infection Decreased liver function Cirrhosis Cholelithiasis Behavioral abnormality Splenomegaly Dilatation

Rare Symptoms - Less than 30% cases


Abnormality of the pinna Nausea and vomiting Acidosis Cholecystitis Polyneuropathy Arthralgia Edema Proteinuria Renal insufficiency Depressivity Encephalopathy Flat face Hepatocellular carcinoma Type I diabetes mellitus Limb muscle weakness Tremor Recurrent infections Cerebral atrophy Scarring Gastrointestinal hemorrhage Hypoketotic hypoglycemia Weight loss Gait disturbance Acute kidney injury Pancreatitis Pruritus Peripheral neuropathy Motor delay Spasticity Respiratory failure Muscle weakness Renal dysplasia Hepatitis Vitamin D deficiency Abnormal facial shape Depressed nasal bridge Atrial septal defect Hepatic failure Heart murmur Easy fatigability Ischemic stroke Hepatic steatosis Cardiomegaly Metabolic acidosis Hypopigmentation of the skin Chest pain Ascites Abnormality of skin pigmentation Reye syndrome-like episodes Dilatation of the cerebral artery Pigmentary retinopathy Anorexia Exotropia Chronic hepatic failure Elevated plasma acylcarnitine levels Gastrointestinal inflammation Micrognathia Growth delay Chorioretinal atrophy Prolonged neonatal jaundice Rhabdomyolysis Nausea Abnormality of the skeletal system Dilated cardiomyopathy Strabismus Cataract Stroke Carcinoma Dyspnea Cryptorchidism Neoplasm Myopia Respiratory insufficiency Vomiting Retinopathy Abnormality of immune system physiology Visual loss Hypoglycemia Elevated serum creatine phosphokinase Chronic fatigue Exercise-induced myalgia Proximal tubulopathy Polycystic kidney dysplasia Back pain Medulloblastoma Hemiplegia Stridor Slurred speech Restrictive ventilatory defect Difficulty climbing stairs Fatigable weakness Ventricular fibrillation Organic aciduria Ketonuria Glycosuria Cardiorespiratory arrest Progressive proximal muscle weakness Ketosis Myoglobinuria Drowsiness Excessive daytime somnolence Muscle cramps Poor head control Dysphagia Abnormality of the cerebral white matter Lethargy Hyperlordosis Telecanthus Myalgia Proximal muscle weakness Difficulty walking High forehead Gait ataxia Dysarthria Joint hyperflexibility Ataxia 3-hydroxydicarboxylic aciduria Abnormality of acid-base homeostasis Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Posterior staphyloma Acute hepatic steatosis Abnormal chorioretinal morphology Hepatic encephalopathy Abnormal left ventricle morphology Decreased plasma carnitine Congenital cataract Lactic acidosis Mutism Heterotopia Ragged-red muscle fibers Hyperammonemia Spastic tetraparesis Scapular winging Exercise intolerance Cardiac arrest Clonus Leukodystrophy Wide anterior fontanel Left ventricular hypertrophy Pachygyria Pulmonary hypoplasia Abnormality of the genital system Tetraparesis Waddling gait Aciduria Increased serum lactate Gliosis Generalized muscle weakness Tetraplegia Abnormality of the renal tubule Renal cyst Episodic vomiting Electron transfer flavoprotein-ubiquinone oxidoreductase defect Abnormal corpus callosum morphology Pointed chin Vertebral segmentation defect Malnutrition Hypoplasia of the ulna Glomerulosclerosis Renal hypoplasia/aplasia Corneal dystrophy Hypercholesterolemia Spina bifida occulta Finger clinodactyly Multicystic kidney dysplasia Hemivertebrae Abnormal vertebral morphology Telangiectasia of the skin Lymphedema Abnormal form of the vertebral bodies Hypertriglyceridemia Renal hypoplasia Nephrotic syndrome Coarctation of aorta Abnormality of the ribs Tetralogy of Fallot Specific learning disability Prominent nose Round face Vesicoureteral reflux Long nose Keratoconus Hypodontia Arterial stenosis Reduced number of intrahepatic bile ducts Rectourethral fistula Unicoronal synostosis Intrahepatic biliary atresia Multiple small medullary renal cysts Renal artery stenosis Axenfeld anomaly Papillary thyroid carcinoma Band keratopathy Biliary atresia Abnormal anterior chamber morphology Butterfly vertebrae Hypopigmentation of the fundus Renal tubular acidosis Fat malabsorption Peripheral pulmonary artery stenosis Abnormal pupil morphology Thyroid carcinoma Peripheral arterial stenosis Intrahepatic cholestasis Coronal craniosynostosis Pulmonary artery stenosis Abnormality of the vasculature Exocrine pancreatic insufficiency Posterior embryotoxon Abnormality of the ureter Triangular face Microcornea Loss of ability to walk Narcolepsy Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Hypersarcosinemia Ethylmalonic aciduria Reduced protein C activity Ketotic hypoglycemia Increased muscle lipid content Glutaric acidemia Arthralgia of the hip Cataplexy Abnormality of blood glucose concentration Renal cortical cysts Limb tremor Impaired mastication Nonketotic hypoglycemia Hypoglycemic coma Personality disorder Progressive spastic quadriplegia Glutaric aciduria Oliguria Generalized aminoaciduria Respiratory arrest Acute pancreatitis Hepatic periportal necrosis Short stature Short distal phalanx of finger Coarse facial features Stage 5 chronic kidney disease Anal atresia Delayed puberty Malabsorption Pulmonic stenosis Broad forehead Short philtrum Craniosynostosis Protruding ear Abnormality of the kidney Conductive hearing impairment Deeply set eye Macrotia Hearing impairment Brachycephaly Upslanted palpebral fissure Prominent forehead Clinodactyly of the 5th finger Delayed skeletal maturation Clinodactyly Intellectual disability, mild Ventricular septal defect Frontal bossing Downslanted palpebral fissures Intrauterine growth retardation Hypertelorism Reduced consciousness/confusion Inflammatory abnormality of the eye Recurrent hypoglycemia Hyporeflexia Optic disc pallor Neuronal loss in central nervous system Dyskinesia Hemolytic anemia Unsteady gait Abnormal pyramidal sign Pallor Recurrent respiratory infections Babinski sign Kyphosis Intention tremor Dystonia Skeletal muscle atrophy Hyperreflexia Hepatic vascular malformations Adenocarcinoma of the colon Duodenal adenocarcinoma Multiple gastric polyps Intussusception Melena Hematemesis Oligohydramnios Involuntary movements Stomach cancer Osteoporosis Amyloidosis Celiac disease Abnormality of the thyroid gland Generalized amyotrophy Inflammation of the large intestine Pleural effusion Hepatic fibrosis Autoimmunity Osteopenia Central nervous system degeneration Progressive muscle weakness Congenital hemolytic anemia Chronic hemolytic anemia Abnormal posturing Normochromic anemia Nonspherocytic hemolytic anemia Normocytic anemia Diaphragmatic paralysis Macrocytic anemia Decreased nerve conduction velocity Respiratory insufficiency due to muscle weakness Hamartomatous polyposis Rectal prolapse Uveitis Reduced activity of N-acetylglucosaminyltransferase II Thromboembolism Exertional dyspnea Cerebral hemorrhage Tricuspid regurgitation Neoplasm of the skin Mitral valve prolapse Syncope Confusion Cognitive impairment Endopolyploidy on chromosome studies of bone marrow Subarachnoid hemorrhage Increased red cell osmotic fragility Increased hemoglobin Increased total bilirubin Congenital hypoplastic anemia Chronic myelogenous leukemia Anemia of inadequate production Gout Reticulocytosis Hyperbilirubinemia Leukemia Growth hormone excess Edema of the lower limbs Intestinal polyposis Epistaxis Clubbing of fingers Hematochezia Hemoptysis Polycythemia Hamartoma Colon cancer Clubbing Hypokalemia Diplopia Telangiectasia Cyanosis Pulmonary edema Vertigo Cough Umbilical hernia Hernia Pulmonic valve myxoma Cardiac myxoma Bacterial endocarditis Increased inflammatory response Orthopnea Endocarditis Thyroiditis Acute hepatic failure Preeclampsia Abnormal myocardium morphology Abnormal pericardium morphology Arteritis Glossitis Abnormal oral mucosa morphology Ascending tubular aorta aneurysm Synovitis Cheilitis Elevated C-reactive protein level Recurrent pharyngitis Allergy CSF pleocytosis Myocarditis Tubulointerstitial nephritis Aortic root aneurysm Pericarditis Abnormal heart valve morphology Elevated erythrocyte sedimentation rate Interstitial pulmonary abnormality Coronary artery atherosclerosis Leukocytosis Hyponatremia Conjunctival hyperemia Cervical lymphadenopathy Cranial nerve paralysis Peripheral axonal neuropathy Multiple lipomas Loss of consciousness Abnormal electroretinogram Tachypnea Hypocalcemia Sensorimotor neuropathy Abnormality of retinal pigmentation Peripheral demyelination Brain atrophy Retinal dystrophy Nyctalopia Coronary artery aneurysm Photophobia Abnormality of metabolism/homeostasis Abnormal gallbladder morphology Aseptic leukocyturia Strawberry tongue Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Abnormal emotion/affect behavior Pyuria Arthralgia/arthritis Abnormality of nail color Scaling skin Conjunctivitis Ulcerative colitis Elevated alkaline phosphatase of hepatic origin Short neck Microcephaly Adenocarcinoma of the large intestine Dilated superficial abdominal veins Recurrent systemic pyogenic infections Neoplasm of the gallbladder Abnormal large intestine physiology Spider hemangioma Polyclonal elevation of IgM Palmar telangiectasia Abnormal heart morphology Abnormal biliary tract morphology Vitamin K deficiency Vitamin A deficiency Cholangiocarcinoma Vitamin E deficiency Sclerosing cholangitis Abnormal eosinophil morphology Histiocytosis Prolonged prothrombin time Cholangitis Thrombocytopenia Arthrogryposis multiplex congenita Vasculitis Ptosis Meningitis Mitral regurgitation Myocardial infarction Migraine Hematuria Lymphadenopathy Skin rash Erythema Irritability Arthritis Sensorineural hearing impairment Thick vermilion border Mild proteinuria Abnormal glycosylation Areflexia of lower limbs Premature skin wrinkling Distal arthrogryposis Inverted nipples Protruding tongue Adducted thumb Dehydration Delayed myelination Butterfly vertebral arch



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Rigidity, related diseases and genetic alterations Intellectual disability, severe and Brain atrophy, related diseases and genetic alterations

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