Congestive heart failure, and Gastrointestinal hemorrhage

Diseases related with Congestive heart failure and Gastrointestinal hemorrhage

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

Top matches:

Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.

HEREDITARY HEMORRHAGIC TELANGIECTASIA Is also known as hht|rendu-osler disease|rendu-osler-weber disease

Related symptoms:

  • Seizures
  • Congestive heart failure
  • Cirrhosis
  • Hepatic failure
  • Hematuria


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY HEMORRHAGIC TELANGIECTASIA

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

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about KLIPPEL-TRÉNAUNAY SYNDROME

Other less relevant matches:

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

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

Waldenström macroglobulinemia (WM) is an indolent B-cell lymphoproliferative disorder characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Anemia
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about WALDENSTRÖM MACROGLOBULINEMIA

Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.

PSEUDOXANTHOMA ELASTICUM Is also known as pxe|gronblad-strandberg-touraine syndrome|gronblad-strandberg syndrome

Related symptoms:

  • Scoliosis
  • Growth delay
  • High palate
  • Visual impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM

Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE Is also known as eds vi|eds6|ehlers-danlos syndrome, oculoscoliotic type|ehlers-danlos syndrome, ocular-scoliotic type|eds, oculoscoliotic type|eds6a, formerly|nevo syndrome|eds via|ehlers-danlos syndrome, type vi|ehlers-danlos syndrome, type via, formerly|eds, kyphoscoli

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE

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

Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

GAUCHER DISEASE TYPE 2 Is also known as infantile cerebral gaucher disease|acute neuronopathic gaucher disease

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 2

Top 5 symptoms//phenotypes associated to Congestive heart failure and Gastrointestinal hemorrhage

Symptoms // Phenotype % cases
Portal hypertension Common - Between 50% and 80% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Dilatation Uncommon - Between 30% and 50% cases
Epistaxis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Stroke Seizures Renal insufficiency Respiratory insufficiency Visual loss Edema Respiratory distress Cirrhosis Anemia Cyanosis Abnormality of the liver Atrial septal defect Splenomegaly Cryptorchidism Headache Failure to thrive Intracranial hemorrhage Hepatosplenomegaly Scarring Clubbing Diarrhea Cholestasis Retinopathy Intrauterine growth retardation Myopia Scoliosis Neoplasm Dyspnea Jaundice Ascites Hematemesis Fatigue Hemoptysis Hepatic failure Hematuria Migraine Heart murmur Telangiectasia of the skin Esophageal varix

Rare Symptoms - Less than 30% cases

Chorioretinal atrophy Hematochezia Melena Encephalopathy Atherosclerosis Keratoconus Nausea Ischemic stroke Abnormality of the vasculature Hypoxemia Hearing impairment Polycythemia Telangiectasia Osteopenia Prominent forehead Vertigo Cough Corneal dystrophy Carcinoma Spina bifida occulta Umbilical hernia Hyperbilirubinemia Abdominal pain Hernia Microcornea Abnormal bleeding Ataxia Pallor Fever Joint hyperflexibility Elevated hepatic transaminase Arterial stenosis Delayed skeletal maturation Abnormality of the thorax Abnormal facial shape Strabismus Hyperextensible skin Blue sclerae Global developmental delay Generalized hypotonia Mitral valve prolapse Abnormality of the skin Bruising susceptibility Flexion contracture Pruritus Peripheral arterial stenosis Hepatocellular carcinoma Malabsorption Lymphadenopathy Polyneuropathy Anorexia Purpura Cutis marmorata Retinal hemorrhage Depressed nasal bridge Kyphosis Growth delay Visual impairment Subcutaneous hemorrhage Motor delay Blindness Abnormality of skin pigmentation Decreased fetal movement Peripheral arteriovenous fistula Conjunctival telangiectasia Spontaneous hematomas Ventricular septal defect Pulmonary embolism Tall stature Subarachnoid hemorrhage Micrognathia Transient ischemic attack Abnormality of the kidney Macrocephaly Microcephaly Intellectual disability Macrotia Abnormality of the cerebral vasculature Intestinal polyposis Hydrops fetalis Microcytic anemia Stage 5 chronic kidney disease Pulmonary arterial hypertension Cholelithiasis Pulmonary hypoplasia Venous thrombosis Hypercoagulability Oligohydramnios Cerebral hemorrhage Renal hypoplasia/aplasia Hypopigmentation of the skin Short distal phalanx of finger Flat face Brachycephaly Acidosis Anal atresia Delayed puberty Coarse facial features Pulmonic stenosis Orthopnea Broad forehead Deeply set eye Laryngeal stridor Short philtrum Craniosynostosis Conductive hearing impairment Protruding ear Hypodontia Akinesia Triangular face Hypertriglyceridemia Pointed chin Hemophagocytosis Axial dystonia Abducens palsy Abnormal vertebral morphology Lymphedema Exotropia Renal dysplasia Abnormal form of the vertebral bodies Renal hypoplasia Vesicoureteral reflux Nephrotic syndrome Coarctation of aorta Abnormality of the ribs Upslanted palpebral fissure Tetralogy of Fallot Giant cell hepatitis Pigmentary retinopathy Specific learning disability Prominent nose Round face Intestinal bleeding Cataract Clinodactyly of the 5th finger Disproportionate tall stature Abnormal platelet aggregation Bladder diverticulum Generalized joint laxity Aortic dissection Atypical scarring of skin Soft skin Aortic root aneurysm Slender finger Abnormality of the hip bone Atrophic scars Aortic aneurysm Hematological neoplasm Aortic regurgitation Torticollis Joint dislocation Cardiac valve calcification Increased body weight Slowed horizontal saccades Recurrent pneumonia Spina bifida Joint contracture of the hand Insulin resistance Lens luxation Thoracic kyphoscoliosis Areflexia Progressive congenital scoliosis CSF pleocytosis Clinodactyly Intellectual disability, mild Abnormality of the skeletal system Frontal bossing Downslanted palpebral fissures Multicystic kidney dysplasia Erlenmeyer flask deformity of the femurs Hypertelorism Short stature Spontaneous rupture of the globe Keloids Molluscoid pseudotumors Arterial rupture Decreased pulmonary function Moderate myopia Wrist drop Premature rupture of membranes Palmoplantar cutis laxa Arterial dissection Decreased beta-glucocerebrosidase protein and activity Dural ectasia Hemivertebrae Glomerulosclerosis Eclabion Corneal opacity Decreased body weight Progressive neurologic deterioration Pancytopenia Epileptic spasms Increased serum ferritin Brain atrophy Syncope Generalized myoclonic seizures Abnormality of eye movement Ophthalmoplegia Lethargy Irritability Limb hypertonia Feeding difficulties in infancy Developmental regression Apnea Rigidity Hypoglycemia Gastroesophageal reflux Polyhydramnios Myoclonus Dementia Recurrent respiratory infections Arrhythmia Thrombocytopenia Thickened skin Protuberant abdomen Hypertonia Bilateral ptosis Menorrhagia Opisthotonus Abnormality of coagulation Petechiae Interstitial pulmonary abnormality Hypokinesia Exertional dyspnea Hyponatremia Bulbar palsy Congenital ichthyosiform erythroderma Ectropion Poor suck Progressive microcephaly Poor eye contact Hyperammonemia Leukopenia Atrophy/Degeneration affecting the brainstem Oculomotor apraxia Osteolysis Knee flexion contracture Hypocalcemia Elbow flexion contracture Cardiac arrest Aspiration Bone pain Dystonia Dental crowding Finger clinodactyly Abnormality of the ureter Abnormal pupil morphology Thyroid carcinoma Cholestatic liver disease Intrahepatic cholestasis Coronal craniosynostosis Pulmonary artery stenosis Dilatation of the cerebral artery Abnormality of the larynx Exocrine pancreatic insufficiency Posterior embryotoxon Abnormality of the spleen Renal tubular acidosis Multiple myeloma Prolonged neonatal jaundice Long nose Vertebral segmentation defect Avascular necrosis of the capital femoral epiphysis Restrictive deficit on pulmonary function testing Malnutrition Generalized osteosclerosis Histiocytosis Hypoplasia of the ulna Abnormal pattern of respiration Athetosis Hypercholesterolemia Peripheral pulmonary artery stenosis Fat malabsorption Dysphagia Renal artery stenosis Spasticity Butterfly vertebral arch Reduced number of intrahepatic bile ducts Rectourethral fistula Unicoronal synostosis Intrahepatic biliary atresia Aspiration pneumonia Fetal akinesia sequence Chronic hepatic failure Hypomagnesemia Multiple small medullary renal cysts Vitamin D deficiency Hypopigmentation of the fundus Bulbar signs Axenfeld anomaly Papillary thyroid carcinoma Trismus Slow saccadic eye movements Nonimmune hydrops fetalis Band keratopathy Biliary atresia Supranuclear gaze palsy Abnormal anterior chamber morphology Congenital nonbullous ichthyosiform erythroderma Butterfly vertebrae Vomiting Intermittent claudication Thin skin Venous malformation Right-to-left shunt Coronary artery aneurysm Hemangiomatosis Cerebral arteriovenous malformation Lip telangiectasia Gastrointestinal angiodysplasia Pulmonary hemorrhage Polycystic liver disease Focal sensory seizure Arteriovenous fistula Spontaneous, recurrent epistaxis Migraine with aura Pulmonary arteriovenous malformation Thrombocytosis Scleroderma Pericardial effusion Elevated alkaline phosphatase Hepatic vascular malformations Adenocarcinoma of the colon Duodenal adenocarcinoma Multiple gastric polyps Intussusception Hamartomatous polyposis Stomach cancer Brain abscess Spinal arteriovenous malformation Clubbing of fingers Gastrointestinal arteriovenous malformation Urticaria Cranial nerve paralysis Vasculitis Memory impairment Lymphoma Leukemia Autoimmunity Proptosis Weight loss Recurrent infections Peripheral neuropathy Dilatation of celiac artery Hepatic arteriovenous malformation Gastrointestinal telangiectasia Dilatation of mesenteric artery Venous varicosities of celiac and mesenteric vessels Nail bed telangiectasia Fingerpad telangiectases Visual auras Nasal mucosa telangiectasia High-output congestive heart failure Tongue telangiectasia Palate telangiectasia Arteriovenous fistulas of celiac and mesenteric vessels Rectal prolapse Hamartoma Elevated erythrocyte sedimentation rate Dehydration Congenital hepatic fibrosis Cholangitis Atelectasis Chronic lung disease Multiple renal cysts Enlarged kidney Polycystic kidney dysplasia Chronic kidney disease Hepatic fibrosis Abnormal lung morphology Depressed nasal ridge Renal cyst Hepatic cysts Low-set, posteriorly rotated ears Respiratory failure Retinal telangiectasia Mucosal telangiectasiae Abnormality of cardiovascular system physiology Cholecystitis Cavernous hemangioma Visceral angiomatosis Arteriovenous malformation Amblyopia Nephrolithiasis Pancreatic cysts Tubulointerstitial fibrosis Colon cancer Venous insufficiency Hypoalbuminemia Hypokalemia Diplopia Chest pain Pain Abnormality of skeletal morphology Internal hemorrhage Upper limb asymmetry Abnormal tricuspid valve morphology Abnormality of the menstrual cycle Abnormality of the pulmonary artery Lower limb asymmetry Biliary tract abnormality Abnormality of the skull Cellulitis Prolonged bleeding time Hemangioma Patent ductus arteriosus Absence of renal corticomedullary differentiation Azotemia Hypoplasia of the ear cartilage Periportal fibrosis Potter facies Hypersplenism Portal fibrosis Pleural effusion Gingival bleeding High myopia Localized skin lesion Muscle weakness Medial calcification of small arteries Abnormal atrioventricular valve morphology Medial calcification of medium-sized arteries Premature occlusive vascular stenosis Erythematous papule Subretinal fluid Peau d'orange Peripapillary chorioretinal atrophy Medial calcification of large arteries Generalized arterial calcification Hyperkeratotic papule Low-set ears Arterial calcification Subcutaneous calcification Vascular calcification Accelerated atherosclerosis Civatte bodies Abnormality of connective tissue Renovascular hypertension Metamorphopsia Angioid streaks of the fundus Abnormal endocardium morphology Choroidal neovascularization Muscular hypotonia Epicanthus Pulmonary insufficiency Pectus carinatum Overgrowth Esotropia Sepsis Generalized muscle weakness Single transverse palmar crease Retinal detachment Joint hypermobility Unsteady gait Arachnodactyly Talipes Dolichocephaly Hyperlordosis Gait disturbance Joint laxity Neonatal hypotonia Pes planus Kyphoscoliosis Glaucoma Osteoporosis Inguinal hernia Pectus excavatum Abnormality of metabolism/homeostasis Myopathy Talipes equinovarus Ectopic calcification Excessive wrinkled skin Pulmonary infiltrates Polyclonal elevation of IgM Cerebral calcification Sudden cardiac death Postural instability Papule Small for gestational age Skin rash Hypothyroidism Reduced visual acuity Abnormality of cardiovascular system morphology Cardiomyopathy High palate Cryoglobulinemia Myocardial infarction Impaired lymphocyte transformation with phytohemagglutinin Monoclonal immunoglobulin M proteinemia Multifocal epileptiform discharges Abnormality of neutrophils Normocytic anemia Periorbital edema Reduced consciousness/confusion Abnormality of the retinal vasculature Lymphoproliferative disorder Edema of the lower limbs Raynaud phenomenon Abnormality of the cardiovascular system Mitral regurgitation Arteriosclerosis Severe intrauterine growth retardation Pulmonary edema Abnormal mitral valve morphology Abnormal thrombocyte morphology Redundant neck skin Restrictive cardiomyopathy Lack of skin elasticity Angina pectoris Mitral stenosis Drusen Thickened nuchal skin fold Abnormality of the mouth Severe vision loss Subcutaneous nodule Striae distensae Multiple lipomas Abnormal retinal morphology Hypermelanotic macule Coronary artery atherosclerosis Hemiplegia/hemiparesis Tricuspid regurgitation Acne Redundant skin Cutis laxa Macular degeneration Nephrocalcinosis EEG with temporal sharp waves


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