Congestive heart failure, and Hematuria

Diseases related with Congestive heart failure and Hematuria

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


Top matches:

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 KLIPPEL-TRÉNAUNAY SYNDROME


Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about KLIPPEL-TRÉNAUNAY SYNDROME

Medium match HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA


Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term).

HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA Is also known as familial pheochromocytoma-paraganglioma

Related symptoms:

  • Tremor
  • Fatigue
  • Congestive heart failure
  • Weight loss
  • Conductive hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA

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Other less relevant matches:

Medium match PHEOCHROMOCYTOMA


Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary (Maher and Eng, 2002; Dluhy, 2002).Bolande (1974) introduced the concept and designation of the neurocristopathies, and identified 'simple,' including pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies and neurocristopathic syndromes, including NF1 and MEN2.Knudson and Strong (1972) applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in {180200}) and concluded that it fits.Maher and Eng (2002) reviewed the clinical entities and genes associated with pheochromocytoma.

PHEOCHROMOCYTOMA Is also known as pheochromocytoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Hypertension
  • Tremor
  • Fatigue
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHEOCHROMOCYTOMA

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 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 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC


Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

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 FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

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

Symptoms // Phenotype % cases
Proteinuria Common - Between 50% and 80% cases
Fatigue Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Anemia Uncommon - Between 30% and 50% cases
Arrhythmia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Dyspnea Depressivity Hypertension Nausea Edema Abnormal myocardium morphology Interstitial pulmonary abnormality Ascites Abdominal pain Cirrhosis Diarrhea Cerebral hemorrhage Portal hypertension Tremor Clubbing Arthritis Pulmonary arterial hypertension Epistaxis Anorexia Pallor Corneal opacity Chest pain Glomerulosclerosis Short stature Weight loss Global developmental delay Pancytopenia Malabsorption Dementia Thrombocytopenia Failure to thrive Growth delay Ataxia Abdominal distention Abnormal heart valve morphology Headache Dilatation Cyanosis Lymphadenopathy Ischemic stroke Pericardial effusion Delayed puberty Palpitations Spontaneous hematomas Respiratory insufficiency Syncope Hepatomegaly Conjunctival telangiectasia Migraine Gastrointestinal hemorrhage Intellectual disability Transient ischemic attack Cholelithiasis

Rare Symptoms - Less than 30% cases


Hematological neoplasm Elevated erythrocyte sedimentation rate Cardiac valve calcification Aortic root aneurysm Horizontal supranuclear gaze palsy Tubulointerstitial nephritis Hepatocellular carcinoma Hearing impairment Aseptic necrosis Exertional dyspnea Nystagmus Petechiae Coronary artery atherosclerosis Generalized myoclonic seizures Edema of the lower limbs Nausea and vomiting Fever Erlenmeyer flask deformity of the femurs Arthralgia Decreased beta-glucocerebrosidase protein and activity Skin rash Generalized osteosclerosis Abnormality of the spleen Avascular necrosis of the capital femoral epiphysis Vertebral compression fractures Myocardial infarction Multiple myeloma Mitral regurgitation Meningitis Supranuclear gaze palsy Cataract Leukocytosis Hypoalbuminemia Vomiting Hydrocephalus Osteoporosis Reduced bone mineral density Recurrent respiratory infections Myoclonus Coronary artery aneurysm Leukopenia Oculomotor apraxia Osteolysis Increased bone mineral density Kyphosis Bone pain Decreased body weight Osteopenia Hepatosplenomegaly Progressive neurologic deterioration Abnormality of the cardiovascular system Abnormality of eye movement Delayed skeletal maturation Splenomegaly Renal insufficiency Nephropathy Abnormal bleeding Increased antibody level in blood Difficulty walking Mental deterioration Menorrhagia Paresthesia Abnormality of skin pigmentation Urinary incontinence Myopia Abnormality of the thorax Hemiplegia Increased susceptibility to fractures Abnormal thrombosis Scoliosis Strabismus Cognitive impairment Sensorineural hearing impairment Orthopnea Vocal cord paralysis Retinopathy Hemangioma Paraganglioma of head and neck Elevated urinary dopamine Positive regitine blocking test Hypercoagulability Atherosclerosis Paroxysmal vertigo Stroke Hyperhidrosis Carcinoma Encephalopathy Congenital cataract Adrenal pheochromocytoma Conductive hearing impairment Dysphonia Hypercalcemia Aniridia Episodic abdominal pain Panic attack Tachycardia Flushing Paraganglioma Sinus tachycardia Cranial nerve compression Recurrent paroxysmal headache Hydrops fetalis Elevated urinary norepinephrine Pulsatile tinnitus Episodic paroxysmal anxiety Hypertension associated with pheochromocytoma Hypertensive retinopathy Episodic hyperhidrosis Venous thrombosis Microcytic anemia Telangiectasia of the skin Hemoptysis Pulmonary embolism Subarachnoid hemorrhage Esophageal varix Extraadrenal pheochromocytoma Cholecystitis Abnormality of cardiovascular system physiology Microcephaly Elevated urinary epinephrine Mucosal telangiectasiae Peripheral arteriovenous fistula Behavioral abnormality Posteriorly rotated ears Astrocytosis Papule Aortic valve calcification Abnormal saccadic eye movements Mitral valve calcification Abnormality of ion homeostasis Prominent nasal bridge Mandibular prognathia Abnormality of the nervous system Abnormality of the acoustic reflex Hypothyroidism Cough Constipation Hyperkeratosis Cardiomyopathy Impaired temperature sensation Myalgia Anxiety Restrictive deficit on pulmonary function testing Developmental regression Abnormality of the kidney Midface retrusion Hypertrophic cardiomyopathy Coarse facial features Sleep myoclonus Pain Peripheral neuropathy Optic atrophy Protein-losing enteropathy Chronic pain Slow saccadic eye movements Heavy proteinuria Abnormality of glycosphingolipid metabolism Rigidity Dystonia Abnormality of the forehead Hyperkeratotic papule Tortuosity of conjunctival vessels Left ventricular septal hypertrophy Tenesmus Hypertonia Dysphagia Acroparesthesia Impaired renal concentrating ability Gait disturbance Abnormal common carotid artery morphology Abnormal ST segment Increased carotid artery intimal medial thickness Increased glomerular filtration rate Abnormality of the common coagulation pathway Puberty and gonadal disorders Biliary tract obstruction Vascular calcification Abnormal glomerular filtration rate Aggressive behavior Abnormal pyramidal sign Thoracic kyphosis Angiokeratoma corporis diffusum Bulbar palsy Abnormality of the sternum Lower limb hyperreflexia Abnormal retinal morphology Restrictive ventilatory defect Opisthotonus Pulmonary fibrosis Lymphopenia Hyposthenuria Shortened QT interval Intention tremor Functional abnormality of the gastrointestinal tract Progressive cerebellar ataxia Decreased lacrimation Neurodegeneration Shortened PR interval Coronary artery stenosis Ophthalmoplegia Concentric hypertrophic cardiomyopathy Unexplained fevers ST segment depression Generalized tonic-clonic seizures Pruritus Muscle cramps Abnormality of the cerebral white matter Decreased female libido Abnormal cornea morphology Dysesthesia Supraventricular arrhythmia Microalbuminuria Primary hypothyroidism Renal tubular dysfunction Biventricular hypertrophy Xerostomia Abnormal EKG Abnormality of lipid metabolism Abnormal endocardium morphology Wheezing Abnormality of the renal tubule Vascular skin abnormality Renal tubular acidosis Glycosuria Retinal vascular tortuosity Glomerulopathy Celiac disease Orthostatic hypotension Corneal crystals Progressive sensorineural hearing impairment Abnormal platelet function Limb pain Elevated serum creatinine Tubular atrophy Nephrogenic diabetes insipidus Abnormality of femur morphology Miosis T-wave inversion Abnormal aortic valve morphology Gastrointestinal dysmotility Periorbital fullness Abnormal mitral valve morphology Asymmetric septal hypertrophy High-frequency hearing impairment Tubulointerstitial fibrosis Restrictive cardiomyopathy Abnormality of the nose Chronic fatigue Abnormality of the gastrointestinal tract Myocardial fibrosis Sinus bradycardia Achalasia Chronic obstructive pulmonary disease Angina pectoris Clubbing of fingers Peripheral arterial stenosis Reduced ejection fraction Heat intolerance Supraventricular tachycardia Large earlobe Oligospermia Abnormality of temperature regulation Decreased glomerular filtration rate Vertigo Atrial fibrillation Exercise intolerance Spontaneous abortion Abnormal autonomic nervous system physiology Angiokeratoma Fasciculations Bradycardia Lymphedema Hypohidrosis Left ventricular hypertrophy Subcutaneous nodule Abnormal lung morphology Thick lower lip vermilion Aminoaciduria Ventricular hypertrophy Obstructive lung disease Nephrotic syndrome Mitral valve prolapse Hypotension Sudden cardiac death Abnormal renal physiology Thick vermilion border Thick eyebrow Bulbous nose Stage 5 chronic kidney disease Reduced sperm motility Purpura Bundle branch block Personality changes Loss of consciousness Vascular tortuosity Distal renal tubular acidosis Emphysema Anhidrosis Increased blood urea nitrogen Polyuria Diabetes insipidus Tricuspid regurgitation Impaired vibratory sensation Heart murmur Polydipsia Hyperlipidemia Abnormality of the hand Prominent supraorbital ridges Chronic kidney disease Atrioventricular block Easy fatigability Tinnitus Ventricular arrhythmia Corneal dystrophy Progressive hearing impairment Abnormal intestine morphology Aortic regurgitation Ventricular tachycardia Impotence Hemolytic-uremic syndrome Arthralgia of the hip Hepatic arteriovenous malformation 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 Spinal arteriovenous malformation Gastrointestinal telangiectasia Pulmonary arteriovenous malformation Brain abscess Right-to-left shunt Hemangiomatosis Cerebral arteriovenous malformation Lip telangiectasia Gastrointestinal angiodysplasia Pulmonary hemorrhage Polycystic liver disease Focal sensory seizure Dilatation of mesenteric artery Dilatation of celiac artery Spontaneous, recurrent epistaxis Scaling skin Synovitis Cheilitis Elevated C-reactive protein level Inflammatory abnormality of the eye Recurrent pharyngitis Allergy Myocarditis Acute kidney injury Pericarditis Hyponatremia Cranial nerve paralysis Gastrointestinal arteriovenous malformation Conjunctivitis Vasculitis Decreased liver function Cholestasis Hepatitis Erythema Respiratory tract infection Irritability Jaundice Ptosis Arteriovenous fistula Venous malformation Abnormal oral mucosa morphology Patent ductus arteriosus Upper limb asymmetry Abnormal tricuspid valve morphology Abnormality of the menstrual cycle Abnormality of the pulmonary artery Venous insufficiency Lower limb asymmetry Abnormality of the skull Cellulitis Prolonged bleeding time Tall stature Atrial septal defect Abnormality of skeletal morphology Macrocephaly Retinal telangiectasia Cavernous hemangioma Visceral angiomatosis Intestinal polyposis Abnormality of the cerebral vasculature Arteriovenous malformation Amblyopia Nephrolithiasis Hepatic failure Internal hemorrhage Renal cell carcinoma Melena Abnormality of the liver Hematemesis Migraine with aura Hypoxemia Hematochezia Abnormality of the vasculature Thrombocytosis Polycythemia Scleroderma Elevated alkaline phosphatase Telangiectasia Visual loss Elevated calcitonin Episodic hypertension Renal artery stenosis Albuminuria Pheochromocytoma Neoplasm of the endocrine system Raynaud phenomenon Cafe-au-lait spot Neoplasm Arachnoid hemangiomatosis Retinal capillary hemangioma Ascending tubular aorta aneurysm Glossitis Flank pain Abnormality of macular pigmentation Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Decreased adenosylcobalamin Hyperhomocystinemia Decreased methylcobalamin Urogenital fistula Delirium Chronic hemolytic anemia Cystathioninemia Methylmalonic acidemia Atrophy of the spinal cord Right ventricular failure Gastritis Myelopathy Homocystinuria Methylmalonic aciduria Cor pulmonale Megaloblastic anemia Thromboembolism Diffuse hepatic steatosis Thyroglossal cyst Apathy Abnormality of coagulation Abnormality of bone marrow cell morphology Fractures of the long bones Hypersplenism Esodeviation Periorbital edema Increased serum ferritin Bipolar affective disorder Gingival bleeding Protuberant abdomen Pathologic fracture Osteomyelitis Spasticity Spastic paraparesis Hepatic fibrosis Osteoarthritis Apraxia Parkinsonism Bruising susceptibility Neurological speech impairment Abnormality of the eye EEG abnormality Motor delay Disproportionate tall stature Ectopia lentis Arteritis Abnormal gallbladder morphology Gait ataxia Cerebral cortical atrophy Intellectual disability, severe Visual impairment Feeding difficulties Low-set ears Muscular hypotonia Abnormal facial shape Muscle weakness Generalized hypotonia Aseptic leukocyturia Acidosis 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 Cervical lymphadenopathy CSF pleocytosis Conjunctival hyperemia Abnormal pericardium morphology Reduced visual acuity High forehead Slurred speech Hepatic steatosis Abnormality of retinal pigmentation Recurrent urinary tract infections Broad-based gait Psychosis Abnormality of extrapyramidal motor function Pigmentary retinopathy Memory impairment Aciduria Neutropenia Metabolic acidosis Hemolytic anemia Macrotia Joint hypermobility Long face Retinal degeneration Unsteady gait Confusion Smooth philtrum Lower limb muscle weakness Lethargy Hip dislocation Feeding difficulties in infancy Cornea verticillata



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