Congestive heart failure, and Epistaxis

Diseases related with Congestive heart failure and Epistaxis

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Epistaxis 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 HEREDITARY HEMORRHAGIC TELANGIECTASIA


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

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 GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM


Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990).Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996).Lucchiari et al. (2007) provided a review of GSD III.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM Is also known as glycogenosis type iv, childhood combined hepatic and myopathic form|gde deficiency|glycogen storage disease type iv, childhood combined hepatic and myopathic form|gsd type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branc

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM

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

Medium match GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME


Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.

GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME Is also known as cardiovascular gaucher disease|gaucher-like disease|gaucher disease type 3c

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME

Medium match WALDENSTRÖM MACROGLOBULINEMIA


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

Medium match GAUCHER DISEASE TYPE 1


Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Medium match GAUCHER DISEASE TYPE 3


Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

Medium match GAUCHER DISEASE TYPE 2


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 Epistaxis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Cirrhosis Common - Between 50% and 80% cases
Portal hypertension Common - Between 50% and 80% cases
Fatigue Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Cyanosis

Uncommon Symptoms - Between 30% and 50% cases


Dyspnea

Common Symptoms - More than 50% cases


Anemia

Uncommon Symptoms - Between 30% and 50% cases


Pulmonary arterial hypertension Diarrhea Clubbing Failure to thrive Ascites Splenomegaly Gastrointestinal hemorrhage Lymphadenopathy Supranuclear gaze palsy Spontaneous hematomas Pallor Hepatosplenomegaly Global developmental delay Corneal opacity Decreased body weight Hematuria Pancytopenia Strabismus Cardiac valve calcification Abdominal pain Hemoptysis Short stature Cholelithiasis Decreased beta-glucocerebrosidase protein and activity Oculomotor apraxia Recurrent respiratory infections Exertional dyspnea Respiratory distress Ataxia Abnormality of the thorax Headache Leukopenia Osteolysis Pain Menorrhagia Avascular necrosis of the capital femoral epiphysis Encephalopathy Pericardial effusion Hematological neoplasm Erlenmeyer flask deformity of the femurs Orthopnea Generalized osteosclerosis Abnormality of the spleen Multiple myeloma Stroke Growth delay Hearing impairment Hepatocellular carcinoma Interstitial pulmonary abnormality Petechiae Hypertonia Ophthalmoplegia Spasticity Bone pain Arrhythmia Hepatic failure Telangiectasia Anorexia Thrombocytopenia Edema of the lower limbs Progressive neurologic deterioration Spontaneous, recurrent epistaxis Ventricular hypertrophy Cardiomegaly Delayed skeletal maturation Dementia Myoclonus Scoliosis Osteopenia Vertigo Kyphosis Migraine Abnormal bleeding Hypertension Edema Generalized myoclonic seizures Syncope Cough Abnormality of eye movement

Rare Symptoms - Less than 30% cases


Increased serum ferritin Rigidity Myopia Dystonia Vertebral compression fractures Vomiting Motor delay Dysphagia Abnormal myocardium morphology Visual loss Horizontal supranuclear gaze palsy Nausea Hypoxemia Gingival bleeding Hypercoagulability Opisthotonus Purpura Delayed puberty Increased bone mineral density Abnormal heart valve morphology Aortic valve calcification Heart murmur Abnormal saccadic eye movements Mitral valve calcification Increased susceptibility to fractures Abdominal distention Slowed horizontal saccades Proteinuria Protuberant abdomen Fever Generalized tonic-clonic seizures Osteoporosis Increased antibody level in blood Abnormality of coagulation Malabsorption Hydrocephalus Depressivity Aseptic necrosis Hydrops fetalis Hepatic fibrosis Bulbar palsy Conjunctival telangiectasia Hematemesis Hematochezia Polycythemia Hypoalbuminemia Carcinoma Jaundice Umbilical hernia Neoplasm Intestinal polyposis Generalized hypotonia Esophageal varix Transient ischemic attack Subarachnoid hemorrhage Cerebral hemorrhage Hemangiomatosis Abnormal thrombosis Scleroderma Chest pain Melena Periorbital edema Hypoglycemia Elevated hepatic transaminase Abnormality of the liver Restrictive deficit on pulmonary function testing Slow saccadic eye movements Atrophy/Degeneration affecting the brainstem Neurological speech impairment Hypomagnesemia Fetal akinesia sequence Aspiration pneumonia Pulmonary fibrosis Abnormality of skin pigmentation Epileptic spasms Bruising susceptibility Limb hypertonia Parkinsonism Abnormality of neutrophils Bulbar signs Lymphopenia Poor eye contact Congenital ichthyosiform erythroderma Abnormality of the cardiovascular system Intention tremor Apraxia Hypokinesia Osteoarthritis Athetosis Progressive cerebellar ataxia Akinesia Abnormality of the eye Trismus Spastic paraparesis Intestinal bleeding Retinal hemorrhage Multifocal epileptiform discharges Monoclonal immunoglobulin M proteinemia Lower limb hyperreflexia Impaired lymphocyte transformation with phytohemagglutinin Cryoglobulinemia Abnormal platelet aggregation Polyclonal elevation of IgM CSF pleocytosis Cognitive impairment Laryngeal stridor Giant cell hepatitis Abnormal retinal morphology Nonimmune hydrops fetalis Subcutaneous hemorrhage Abducens palsy Axial dystonia Restrictive ventilatory defect Hemophagocytosis Eclabion Abnormal pattern of respiration Thoracic kyphosis Histiocytosis Abnormality of the larynx Congenital nonbullous ichthyosiform erythroderma EEG abnormality Arthritis Meningitis Bilateral ptosis Hyponatremia Abnormal platelet function Irritability Feeding difficulties in infancy Developmental regression Apnea Gastroesophageal reflux Polyhydramnios Esodeviation Hypersplenism Fractures of the long bones Abnormality of bone marrow cell morphology Flank pain Arthralgia of the hip Intrauterine growth retardation Bipolar affective disorder Flexion contracture Vascular calcification Biliary tract obstruction Puberty and gonadal disorders Abnormal facial shape Microcephaly Sleep myoclonus Intellectual disability Nystagmus Abnormality of the acoustic reflex Tremor Gait disturbance Astrocytosis Lethargy Ectropion Hypocalcemia Abnormality of ion homeostasis Intracranial hemorrhage Neurodegeneration Poor suck Reduced bone mineral density Hyperammonemia Hyperbilirubinemia Abnormal pyramidal sign Leukocytosis Mental deterioration Aggressive behavior Abnormality of the sternum Elbow flexion contracture Pulmonary hypoplasia Cardiac arrest Osteomyelitis Difficulty walking Aspiration Progressive microcephaly Thickened skin Cholestasis Protein-losing enteropathy Decreased fetal movement Abnormality of the skin Pathologic fracture Brain atrophy Knee flexion contracture Abnormal aortic morphology Normocytic anemia Cardiomyopathy Elevated serum creatine phosphokinase Obesity Midface retrusion Immunodeficiency Malar flattening Intellectual disability, mild Myopathy Anteverted nares Deeply set eye Skeletal muscle atrophy Depressed nasal bridge Muscle weakness Hepatic vascular malformations Adenocarcinoma of the colon Duodenal adenocarcinoma Multiple gastric polyps Intussusception Thin upper lip vermilion Proximal muscle weakness Stomach cancer Decreased liver function Micronodular cirrhosis Skeletal myopathy Recurrent corneal erosions Ketosis Recurrent sinusitis Progressive hearing impairment Hyperlipidemia Sinusitis Progressive muscle weakness Myalgia Hypertriglyceridemia Otitis media Full cheeks Broad nasal tip Distal amyotrophy Thin vermilion border Scarring Hypertrophic cardiomyopathy Hamartomatous polyposis Rectal prolapse Ketotic hypoglycemia Abnormal tricuspid valve morphology Pulmonary artery vasoconstriction Pulmonary aterial intimal fibrosis Pulmonary arterial medial hypertrophy Arterial intimal fibrosis Elevated right atrial pressure Pulmonary capillary hemangiomatosis Increased pulmonary vascular resistance Right ventricular failure Amblyopia Right ventricular hypertrophy Capillary hemangioma Acrocyanosis Hoarse voice Abnormal lung morphology Palpitations Hypotension Sudden cardiac death Nephrolithiasis Venous thrombosis Clubbing of fingers Mucosal telangiectasiae Hamartoma Colon cancer Hypokalemia Diplopia Hernia Macrocephaly Cryptorchidism Retinal telangiectasia Peripheral arteriovenous fistula Microcytic anemia Abnormality of cardiovascular system physiology Cholecystitis Cavernous hemangioma Visceral angiomatosis Abnormality of the cerebral vasculature Arteriovenous malformation Pulmonary embolism Telangiectasia of the skin Periportal fibrosis Dilatation Reduced consciousness/confusion Abnormal aortic arch morphology Aortic arch calcification Abnormal common carotid artery morphology Hypometric horizontal saccades Abnormality of toe Bacterial endocarditis Calcification of the aorta Elevated serum acid phosphatase Supranuclear ophthalmoplegia Peripheral neuropathy Corneal crystals Reticular hyperpigmentation Abnormality of the pulmonary artery Abnormal aortic valve morphology Abnormal mitral valve morphology Foam cells Communicating hydrocephalus Mitral stenosis Cardiovascular calcification Respiratory insufficiency Cachexia Cranial nerve paralysis Abnormality of the retinal vasculature Lymphoproliferative disorder Raynaud phenomenon Pulmonary infiltrates Elevated erythrocyte sedimentation rate Cutis marmorata Pleural effusion Urticaria Vasculitis Renal insufficiency Memory impairment Lymphoma Polyneuropathy Leukemia Autoimmunity Proptosis Weight loss Recurrent infections Abnormal EKG Aortic regurgitation Atherosclerosis Pulmonary hemorrhage Pulmonary arteriovenous malformation Brain abscess Right-to-left shunt Coronary artery aneurysm Cerebral arteriovenous malformation Lip telangiectasia Gastrointestinal angiodysplasia Polycystic liver disease Hepatic arteriovenous malformation Focal sensory seizure Arteriovenous fistula Venous malformation Migraine with aura Abnormality of the vasculature Thrombocytosis Elevated alkaline phosphatase Ischemic stroke Spinal arteriovenous malformation Arteriovenous fistulas of celiac and mesenteric vessels Opacification of the corneal stroma Dilatation of celiac artery Horizontal nystagmus Aortic valve stenosis Mitral regurgitation Dry skin Brachycephaly Pes cavus Hyporeflexia Gastrointestinal arteriovenous malformation Gastrointestinal telangiectasia Palate 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 EEG with temporal sharp waves



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