Cardiomyopathy, and Hematuria

Diseases related with Cardiomyopathy and Hematuria

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


Top matches:

Medium match HYPERTROPHIC CARDIOMYOPATHY AND RENAL TUBULAR DISEASE DUE TO MITOCHONDRIAL DNA MUTATION


Hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation is a mitochondrial oxidative phosphorylation disorder characterized by hypertrophic and dilated cardiomyopathy, failure to thrive, myopathy with generalized hypotonia and increased creatine kinase, developmental delay and/or regression with cerebral atrophy on brain MRI, renal manifestations including chronic renal failure, renal tubular acidosis and lactic acidosis. Additional clinical features include seizures and respiratory failure.

HYPERTROPHIC CARDIOMYOPATHY AND RENAL TUBULAR DISEASE DUE TO MITOCHONDRIAL DNA MUTATION Is also known as hypertrophic cardiomyopathy and renal tubular disease due to mtdna mutation

Related symptoms:

  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Anemia
  • Hepatomegaly


SOURCES: ORPHANET MENDELIAN

More info about HYPERTROPHIC CARDIOMYOPATHY AND RENAL TUBULAR DISEASE DUE TO MITOCHONDRIAL DNA MUTATION

Medium match HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1


Typical hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The vast majority of cases (90%) are sporadic, occur in children under 3 years of age, and are associated with epidemics of diarrhea caused by verotoxin-producing E. coli. The death rate is very low, about 30% of cases have renal sequelae, and there is usually no relapse of the disease. This form of HUS usually presents with a diarrhea prodrome (thus referred to as D+HUS) and has a good prognosis in most cases. In contrast, a subgroup of patients with HUS have an atypical presentation (aHUS or D-HUS) without a prodrome of enterocolitis and diarrhea and have a much poorer prognosis, with a tendency to relapse and frequent development of end-stage renal failure or death. These cases tend to be familial. Both autosomal recessive and autosomal dominant inheritance have been reported (Goodship et al., 1997; Taylor, 2001; Veyradier et al., 2003; Noris et al., 2003). Noris and Remuzzi (2009) provided a detailed review of atypical HUS. Genetic Heterogeneity of Atypical Hemolytic Uremic SyndromeAtypical HUS is a genetically heterogeneous condition. Susceptibility to the development of the disorder can be conferred by mutations in various components of or regulatory factors in the complement cascade system (Jozsi et al., 2008). See AHUS2 (OMIM ), AHUS3 (OMIM ), AHUS4 (OMIM ), AHUS5 (OMIM ), and AHUS6 (OMIM ). AHUS7 (see {615008}) is caused by mutation in the DGKE gene (OMIM ), which is not part of the complement cascade system.

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1 Is also known as ahus, susceptibility to, 1

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1

Medium match AMYLOIDOSIS, FAMILIAL VISCERAL


AMYLOIDOSIS, FAMILIAL VISCERAL Is also known as german type amyloidosis|amyloidosis, systemic nonneuropathic|amyloidosis viii|amyloidosis, familial renal|ostertag type amyloidosis

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Pain
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AMYLOIDOSIS, FAMILIAL VISCERAL

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Other less relevant matches:

Medium match HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME


Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).

HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME Is also known as barakat syndrome|hdrs|nephrosis, nerve deafness, and hypoparathyroidism|hdr syndrome|hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME

Medium match COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY


COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.

COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY Is also known as col4a1-related brain small vessel disease with hemorrhage|leukoencephalopathy with axenfeld-rieger anomaly|brain small vessel disease with axenfeld-rieger anomaly|brain small vessel disease with hemorrhage|infantile hemiparesis|retinal arteriolar tortuosi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY

Medium match GRANULOMATOSIS WITH POLYANGIITIS


Granulomatosis with polyangiitis is a small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.

GRANULOMATOSIS WITH POLYANGIITIS Is also known as wegener granulomatosis, formerly|gpa|wg, formerly

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Visual impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GRANULOMATOSIS WITH POLYANGIITIS

Low 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

Low match COSTELLO SYNDROME


Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Low match LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO


Legionnaire disease (LD) is a type of pneumonia caused by Legionella pneumophila, a flagellated gram-negative bacterium found primarily in warm water environments. The disease and the bacterium were discovered following an outbreak traced to a 1976 American Legion convention in Philadelphia. A number of risk factors for acquiring LD have been identified, including age, smoking, chronic lung disease, cancer, and immunosuppression (summary by Hawn et al., 2003).

Related symptoms:

  • Ataxia
  • Neoplasm
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO

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 Cardiomyopathy and Hematuria

Symptoms // Phenotype % cases
Proteinuria Common - Between 50% and 80% cases
Renal insufficiency Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Headache Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Hematuria. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Fever

Uncommon Symptoms - Between 30% and 50% cases


Nephropathy Edema Abdominal pain Hypertension Arrhythmia Pain Sensorineural hearing impairment Stroke Fatigue Respiratory insufficiency Arthralgia Diarrhea Nausea and vomiting Skin rash Peripheral neuropathy Myalgia Paresthesia Nystagmus Nephrotic syndrome Tachycardia Ptosis Ischemic stroke Dilatation Abnormality of the nervous system Purpura Migraine Hemiplegia Arthritis Cough Chest pain Myocardial infarction Elevated erythrocyte sedimentation rate Pericarditis Neoplasm Short stature Hepatomegaly Glomerulopathy Pleural effusion Anemia Abnormality of the kidney Cognitive impairment Dyspnea Hypertrophic cardiomyopathy

Rare Symptoms - Less than 30% cases


Hemiparesis Respiratory failure Irritability Supraventricular tachycardia Anorexia Lymphedema Tetraplegia Abnormal lung morphology Mitral regurgitation Atrial fibrillation Neuritis Thick lower lip vermilion Tubular atrophy Astigmatism Muscle cramps Myopia Interstitial pulmonary abnormality Coronary artery atherosclerosis Global developmental delay Strabismus Cataract Visual impairment Dysarthria Intellectual disability, mild Hypotension Tubulointerstitial fibrosis Depressivity Tricuspid regurgitation Abnormal renal physiology Retinopathy Abnormality of the cerebral white matter Hypermetropia Heart murmur Mitral valve prolapse Respiratory distress Thick vermilion border Hemoptysis Congestive heart failure Diabetes insipidus Vomiting Restrictive ventilatory defect Diabetes mellitus Wheezing Pulmonary infiltrates Cranial nerve paralysis Chronic obstructive pulmonary disease Angina pectoris Arteritis Abnormality of the nose Inflammatory abnormality of the eye Elevated C-reactive protein level Endocarditis Posteriorly rotated ears Pancreatitis Nausea Carcinoma Sepsis Distal renal tubular acidosis Delayed puberty Proptosis Left ventricular hypertrophy Papule Coarse facial features Conjunctivitis Subcutaneous nodule Hyperkeratosis Hyperlipidemia Hyperhidrosis Hoarse voice Meningitis Vasculitis Abnormal heart valve morphology Corneal opacity Aortic root aneurysm Hydronephrosis Recurrent pharyngitis Abnormal myocardium morphology Splenomegaly Stage 5 chronic kidney disease Glaucoma Weight loss Asymmetric septal hypertrophy Hyponatremia Cholestasis Large earlobe Abnormal mitral valve morphology Abnormal heart morphology Jaundice Muscle weakness Growth delay Restrictive cardiomyopathy Intellectual disability Hepatitis Lymphadenopathy Chronic kidney disease Myocarditis Elevated serum creatinine Severe postnatal growth retardation Increased blood urea nitrogen Concentric hypertrophic cardiomyopathy Acute kidney injury Renal tubular acidosis Progressive sensorineural hearing impairment Tubulointerstitial nephritis Generalized hypotonia Unexplained fevers Cornea verticillata Growth hormone deficiency Webbed neck Hyperpigmentation of the skin Premature birth Impaired renal concentrating ability Nevus Abnormal glomerular filtration rate Scoliosis Full cheeks Mucosal telangiectasiae Wide anterior fontanel Hypertelorism Failure to thrive Hydrops fetalis Cafe-au-lait spot Coronary artery stenosis ST segment depression Long eyelashes Abnormality of the common coagulation pathway Functional abnormality of the gastrointestinal tract Abnormality of the forehead Epidermal acanthosis Hyperkeratotic papule Tortuosity of conjunctival vessels Left ventricular septal hypertrophy Tenesmus Apraxia Eczema Overgrowth Heavy proteinuria Abnormality of the skin Acroparesthesia Ascites Abnormal common carotid artery morphology Abnormal ST segment Hypoplasia of dental enamel Increased carotid artery intimal medial thickness Decreased body weight Increased glomerular filtration rate Hip dysplasia Abnormality of glycosphingolipid metabolism Macroglossia Joint hyperflexibility Micrognathia Ventricular septal defect Pes cavus Depressed nasal bridge Motor delay Epicanthus Macrocephaly Pointed chin Downslanted palpebral fissures Frontal bossing Delayed skeletal maturation Dysphagia Abnormality of the skeletal system Inguinal hernia Pectus excavatum Osteoporosis Talipes equinovarus Ventriculomegaly Hernia Absent speech Abnormality of cardiovascular system morphology Cerebral atrophy Anteverted nares Short neck Long philtrum Short nose Abnormality of the dentition Hydrocephalus Atrial septal defect Severe short stature Hypogonadism Postural instability Wide mouth Sleep disturbance High, narrow palate Wide nose Joint hypermobility Myopathy Abnormal facial shape Pulmonic stenosis Muscular hypotonia Cryptorchidism Arthrogryposis multiplex congenita Low-set ears Pectus carinatum Sparse hair Postnatal growth retardation Cerebral cortical atrophy Feeding difficulties in infancy Apnea Low-set, posteriorly rotated ears Intellectual disability, moderate Joint laxity Hypoglycemia Osteopenia Kyphoscoliosis Gastroesophageal reflux Polyhydramnios High palate Feeding difficulties Delayed speech and language development Abnormality of the hair Hypoplastic toenails Narrow palate Macrocephaly at birth Multifocal atrial tachycardia Neonatal sepsis Choroid plexus papilloma Bladder carcinoma Cardiomyocyte hypertrophy Loose anagen hair Enlarged cerebellum Deep-set nails Myofiber disarray Pyuria Vitreomacular adhesion Tendon rupture Alveolar rhabdomyosarcoma Lymphangiectasis Embryonal rhabdomyosarcoma Vestibular Schwannoma Thickened Achilles tendon Duodenal ulcer Hematemesis Melena Triangular mouth Capillary malformation Bladder neoplasm Abnormal pulmonary valve morphology Ulnar deviation of the wrist Frontal hirsutism Body odor Postprandial hyperglycemia Shyness Hypopnea Transitional cell carcinoma of the bladder Ganglioneuroblastoma Congenital neuroblastoma Systolic heart murmur Thin nail Hypoalbuminemia Reduced consciousness/confusion Abnormality of the pleura Chills Respiratory tract infection Erythema Decreased liver function Scaling skin Abnormal oral mucosa morphology Leukocytosis Allergy Cheilitis Synovitis Ascending tubular aorta aneurysm Cholecystitis Chronic lung disease Glossitis Increased corneal curvature Confusion Arthralgia/arthritis Abnormality of nail color Ataxia Pneumonia Coronary artery aneurysm Cervical lymphadenopathy Hallucinations Abnormal pericardium morphology Lymphopenia Bone marrow hypocellularity Shock Encephalitis CSF pleocytosis Conjunctival hyperemia Cellulitis Deep plantar creases Large face Abnormality of dental enamel Neuroblastoma Large for gestational age Neurodevelopmental delay Reduced subcutaneous adipose tissue Keratoconus Aseptic leukocyturia Curly hair Strawberry tongue Bilateral cryptorchidism Rhabdomyolysis Ulnar deviation of finger Decreased lacrimation Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Generalized hyperpigmentation Tracheomalacia Rocker bottom foot Hyperglycemia Syringomyelia Hemangioma Short chin Abnormality of the fingernails Acanthosis nigricans Cutis laxa Abnormal dermatoglyphics Infantile muscular hypotonia Arnold-Chiari malformation Aortic aneurysm Relative macrocephaly Laryngomalacia Poor suck Hyperextensible skin Pyloric stenosis Redundant skin Failure to thrive in infancy Central hypotonia Arnold-Chiari type I malformation Abnormal emotion/affect behavior Rhabdomyosarcoma Broad philtrum Fasting hypoglycemia Hypoplasia of teeth Concave nail Pneumothorax Hyperextensibility of the finger joints Broad femoral neck Labial hypoplasia Schwannoma Abnormality of earlobe Limited elbow movement Fetal distress Bronchomalacia Papilloma Deep palmar crease Redundant neck skin Neonatal hypoglycemia Barrel-shaped chest Soft skin Obstructive sleep apnea Microscopic hematuria Thickened nuchal skin fold Fragile nails Megalencephaly Progeroid facial appearance Abnormality of the testis Woolly hair Thick upper lip vermilion Achilles tendon contracture Large forehead Verrucae Central apnea Lack of skin elasticity Shortened PR interval Clubbing Angiokeratoma corporis diffusum Retinal detachment Congenital glaucoma Blurred vision Cerebral hemorrhage Intracranial hemorrhage Dysphonia Leukoencephalopathy Spastic paraparesis Paraparesis Amblyopia Spastic tetraplegia Renal cyst Microcornea Hypopigmentation of the skin Congenital cataract Infantile spasms Facial palsy Dementia Elevated serum creatine phosphokinase Microphthalmia Cerebellar atrophy Microcephaly Unilateral renal dysplasia Parathyroid hypoplasia Abnormality of T cell physiology Unilateral deafness Bilateral renal dysplasia Thickening of the glomerular basement membrane Septate vagina Pseudopapilledema Scotoma Posterior embryotoxon Uterus didelphys Retinal arteriolar tortuosity Epistaxis Otitis media Gastrointestinal hemorrhage Sensory neuropathy Autoimmunity Paralysis Recurrent respiratory infections Visual loss Thalamic hemorrhage Posterior leukoencephalopathy Retinal arterial tortuosity Right hemiplegia Peripapillary atrophy Optic neuritis Hypoplasia of the iris Diffuse leukoencephalopathy Perivascular spaces Polycoria Rieger anomaly Arterial tortuosity Retinal hemorrhage Migraine with aura Porencephalic cyst Hypopigmentation of the fundus Anterior synechiae of the anterior chamber Anterior segment developmental abnormality Corneal neovascularization Ectopia pupillae Increased intraocular pressure Proximal renal tubular acidosis Hypocalcemic seizures Sinusitis Abnormality of blood and blood-forming tissues Decreased serum complement factor I Abnormality of complement system Decreased serum complement factor B Decreased serum complement C3 Schistocytosis Abnormal lactate dehydrogenase activity Azotemia Microangiopathic hemolytic anemia Anuria Complement deficiency Hemolytic-uremic syndrome Enterocolitis Reticulocytosis Dysphasia Decreased level of thrombomodulin Hypertriglyceridemia Coma Hemolytic anemia Thrombocytopenia Abnormality of metabolism/homeostasis Abnormal mitochondrial number Global glomerulosclerosis Abnormal mitochondrial shape Abnormal mitochondrial morphology Peripheral edema Increased CSF lactate Focal segmental glomerulosclerosis Ragged-red muscle fibers Cardiomegaly Decreased serum complement factor H Hepatosplenomegaly Aplasia of the uterus Horizontal nystagmus Ovarian cyst Vaginal atresia Tetany Hypoparathyroidism Basal ganglia calcification Unilateral renal agenesis Psoriasiform dermatitis Polycystic kidney dysplasia Polycystic ovaries Abnormality of the urinary system Hyperkinesis Nephrocalcinosis Multicystic kidney dysplasia Hypocalcemia Renal dysplasia Polyneuropathy Bilateral sensorineural hearing impairment Ectodermal dysplasia Vesicoureteral reflux Acidosis Rod-cone dystrophy Cleft palate Generalized amyloid deposition Renal amyloidosis Albuminuria Drusen Papilledema Optic neuropathy Amyloidosis Urticaria Diplopia Skin ulcer Shortened QT interval Abnormal EKG Myocardial fibrosis Sinus bradycardia Achalasia Clubbing of fingers Peripheral arterial stenosis Reduced ejection fraction Heat intolerance Oligospermia Abnormality of the gastrointestinal tract Edema of the lower limbs Renal tubular dysfunction Transient ischemic attack Xerostomia Abnormality of lipid metabolism Abnormality of femur morphology Glycosuria Telangiectasia of the skin Celiac disease Orthostatic hypotension Impotence Bundle branch block Loss of consciousness Emphysema Anhidrosis Polyuria Impaired vibratory sensation Personality changes Polydipsia Glomerulosclerosis Chronic fatigue High-frequency hearing impairment Prominent supraorbital ridges Abnormality of cardiovascular system physiology Hyposthenuria Impaired temperature sensation Obstructive lung disease Angiokeratoma Reduced sperm motility Vascular tortuosity Decreased glomerular filtration rate Nephrogenic diabetes insipidus Abnormality of temperature regulation Limb pain Corneal crystals Retinal vascular tortuosity Vascular skin abnormality Decreased female libido Abnormal endocardium morphology Periorbital fullness Biventricular hypertrophy Primary hypothyroidism Microalbuminuria Conjunctival telangiectasia Supraventricular arrhythmia Dysesthesia Abnormal cornea morphology Abnormality of the renal tubule Abnormal thrombosis Chronic pain Miosis T-wave inversion Abnormal aortic valve morphology Gastrointestinal dysmotility Abnormality of the hand Atrioventricular block Venous thrombosis Rhinorrhea Behavioral abnormality Optic atrophy Prostatitis Recurrent intrapulmonary hemorrhage Scleritis Increased inflammatory response Episcleritis Abnormal oral cavity morphology Ureteral stenosis Granulomatosis Pleuritis Subglottic stenosis Ocular pain Periorbital edema Constipation Nasal obstruction Recurrent corneal erosions Abnormality of the hypothalamus-pituitary axis Cerebral ischemia Concave nasal ridge Tracheal stenosis Myositis Gangrene Petechiae Pulmonary fibrosis Intestinal obstruction Stridor Chronic otitis media Glomerulonephritis Midface retrusion Hypothyroidism Easy fatigability Hypohidrosis Tinnitus Ventricular arrhythmia Reduced bone mineral density Corneal dystrophy Progressive hearing impairment Abnormal intestine morphology Aortic regurgitation Ventricular tachycardia Aminoaciduria Exercise intolerance Spontaneous abortion Abnormal autonomic nervous system physiology Fasciculations Bradycardia Palpitations Mandibular prognathia Ventricular hypertrophy Abnormality of the cardiovascular system Urinary incontinence Syncope Sudden cardiac death Abdominal distention Thick eyebrow Bulbous nose Vertigo Malabsorption Pruritus Prominent nasal bridge Developmental regression Anxiety Abnormal gallbladder morphology



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