Congestive heart failure, and Nephrotic syndrome
Diseases related with Congestive heart failure and Nephrotic syndrome
In the following list you will find some of the most common rare diseases related to Congestive heart failure and Nephrotic syndrome that can help you solving undiagnosed cases.
Top matches:
Medium match CEDNIK SYNDROME
CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.
CEDNIK SYNDROME Is also known as cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|cednik syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
SOURCES: MESH OMIM ORPHANET MENDELIAN
More info about CEDNIK SYNDROMEMedium match INFANTILE SIALIC ACID STORAGE DISEASE; ISSD
Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).
INFANTILE SIALIC ACID STORAGE DISEASE; ISSD Is also known as nsd|sialuria, infantile form|n-acetylneuraminic acid storage disease|nana storage disease
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Ataxia
More info about INFANTILE SIALIC ACID STORAGE DISEASE; ISSD
Medium match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA
Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.
SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Short stature
- Scoliosis
- Growth delay
SOURCES: OMIM ORPHANET MESH MENDELIAN
More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA
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Other less relevant matches:
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.
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; ALGS1Medium 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 DISEASELow match MELAS
MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.
MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
SOURCES: ORPHANET OMIM MESH MENDELIAN
More info about MELASLow match LEFT VENTRICULAR NONCOMPACTION 10; LVNC10
Related symptoms:
- Hepatomegaly
- Respiratory distress
- Congestive heart failure
- Dyspnea
- Dilated cardiomyopathy
More info about LEFT VENTRICULAR NONCOMPACTION 10; LVNC10
Low match MALIGNANT HYPERTHERMIA OF ANESTHESIA
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat.
MALIGNANT HYPERTHERMIA OF ANESTHESIA Is also known as hyperthermia of anesthesia
Related symptoms:
- Fever
- Metabolic acidosis
- Muscle stiffness
- Ventricular tachycardia
- Tachypnea
More info about MALIGNANT HYPERTHERMIA OF ANESTHESIA
Low match POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1
Polyglucosan body myopathy-1 is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013).
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1 Is also known as polyglucosan body myopathy, early-onset, with or without immunodeficiency|pbmei
Related symptoms:
- Scoliosis
- Growth delay
- Failure to thrive
- Muscle weakness
- Ptosis
More info about POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1
Low match ACERULOPLASMINEMIA
Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.
ACERULOPLASMINEMIA Is also known as hereditary ceruloplasmin deficiency
Related symptoms:
- Ataxia
- Spasticity
- Cognitive impairment
- Anemia
- Delayed speech and language development
SOURCES: OMIM ORPHANET MENDELIAN
More info about ACERULOPLASMINEMIATop 5 symptoms//phenotypes associated to Congestive heart failure and Nephrotic syndrome
| Symptoms // Phenotype | % cases |
|---|---|
| Failure to thrive | Uncommon - Between 30% and 50% cases |
| Seizures | Uncommon - Between 30% and 50% cases |
| Stroke | Uncommon - Between 30% and 50% cases |
| Hepatomegaly | Uncommon - Between 30% and 50% cases |
| Intellectual disability | Uncommon - Between 30% and 50% cases |
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Other less frequent symptoms
Patients with Congestive heart failure and Nephrotic syndrome. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Short stature Renal insufficiency Malabsorption Proteinuria Ataxia Cardiomyopathy Hearing impairment Fever Hypertension Anemia Hypothyroidism Cognitive impairment Global developmental delay Growth delay Dementia Abnormality of the liver Pruritus Headache Delayed puberty Myalgia Vomiting Ptosis Diarrhea Dyspnea Left ventricular hypertrophy Fatigue Cerebellar atrophy Dilatation Coarse facial features Hepatosplenomegaly Corneal opacity Abnormality of the kidney Developmental regression Depressivity Glomerulopathy Chronic kidney disease Peripheral neuropathy Glomerulosclerosis Depressed nasal bridge Muscular hypotonia Abnormal facial shape Abnormality of the dentition Areflexia Sensorineural hearing impairment Dilated cardiomyopathy Optic atrophy Nephropathy Transient ischemic attack Stage 5 chronic kidney disease Respiratory distress Cataract Hypertelorism
Rare Symptoms - Less than 30% cases
Reduced bone mineral density Corneal dystrophy Telangiectasia of the skin Hyperlipidemia Renal tubular acidosis Peripheral arterial stenosis Pain Heart murmur Elevated hepatic transaminase Lymphedema Pigmentary retinopathy Focal segmental glomerulosclerosis Jaundice Cirrhosis Emphysema Abnormality of the vasculature Anal atresia Cerebral ischemia Protruding ear Visual loss Delayed skeletal maturation Carcinoma Acidosis Specific learning disability Nausea Respiratory insufficiency Myopathy Xerostomia Renal tubular dysfunction Tubulointerstitial nephritis Supraventricular tachycardia Abnormal myocardium morphology Abnormality of the renal tubule Dysesthesia Muscle weakness Dysarthria Tremor Hypertonia Bundle branch block Dystonia Elevated serum creatine phosphokinase Diabetes mellitus Gait ataxia Confusion Memory impairment Involuntary movements Type I diabetes mellitus Hyperkinesis Hyperkalemia Progressive sensorineural hearing impairment Polyuria Behavioral abnormality Muscle cramps Arrhythmia Constipation Abdominal pain Anxiety Hypertrophic cardiomyopathy Nausea and vomiting Paresthesia Vertigo Abnormal lung morphology Tachycardia Sudden cardiac death Personality changes Syncope Abnormality of the cardiovascular system Ventricular hypertrophy Atrial fibrillation Anorexia Exercise intolerance Purpura Ventricular tachycardia Easy fatigability Atrioventricular block Hemiplegia Abnormal form of the vertebral bodies Ischemic stroke Recurrent infections Bulbous nose Intrauterine growth retardation Ichthyosis Downslanted palpebral fissures Macrotia Abnormality of the skeletal system Abnormal cerebellum morphology Hypopigmentation of the skin Osteopenia Cardiomegaly Prominent nasal bridge Abnormality of skin pigmentation Polyneuropathy Severe global developmental delay Scoliosis Polymicrogyria Motor delay Cerebral atrophy Premature birth Myopia Edema Abnormality of peripheral nerve conduction Immunodeficiency Kyphosis Hypogonadism Short neck Nystagmus Microcephaly Scarring Gingival overgrowth Migraine Intellectual disability, severe Agenesis of corpus callosum Pulmonary arterial hypertension Dysmetria Generalized myoclonic seizures Postural instability Type II diabetes mellitus Bilateral sensorineural hearing impairment Lactic acidosis Coma Hirsutism Generalized-onset seizure Cerebral calcification Increased serum lactate Amenorrhea Hip dysplasia Peripheral axonal neuropathy Sensory impairment Intellectual disability, profound Status epilepticus Cachexia Hypopigmented skin patches Mutism Schizophrenia Goiter Wide nasal bridge Growth abnormality Decreased nerve conduction velocity Reduced tendon reflexes Hypercalciuria Bilateral ptosis Aortic aneurysm Abnormality of mitochondrial metabolism Hyponatremia Ophthalmoparesis Ragged-red muscle fibers External ophthalmoplegia Psychosis Cerebral visual impairment Hemiparesis Hypertrichosis Carious teeth Decreased body weight Abnormality of retinal pigmentation Hallucinations Clonus Pancreatitis Cardiac arrest Truncal ataxia EMG abnormality Generalized hirsutism Hypogonadotrophic hypogonadism Macular degeneration Hypoplasia of the corpus callosum Neurological speech impairment Congenital cataract Tenesmus Impaired renal concentrating ability Abnormality of glycosphingolipid metabolism Abnormality of the forehead Hyperkeratotic papule Tortuosity of conjunctival vessels Left ventricular septal hypertrophy Heavy proteinuria ST segment depression Acroparesthesia Abnormal common carotid artery morphology Abnormal ST segment Increased carotid artery intimal medial thickness Increased glomerular filtration rate Abnormality of the common coagulation pathway Functional abnormality of the gastrointestinal tract Unexplained fevers Cornea verticillata Obstructive lung disease Decreased glomerular filtration rate Vascular tortuosity Distal renal tubular acidosis Increased blood urea nitrogen Reduced sperm motility Angiokeratoma Impaired temperature sensation Mucosal telangiectasiae Hyposthenuria Shortened QT interval Angiokeratoma corporis diffusum Decreased lacrimation Shortened PR interval Coronary artery stenosis Concentric hypertrophic cardiomyopathy Abnormal glomerular filtration rate Feeding difficulties Ophthalmoplegia Abnormality of the pinna Gastroesophageal reflux Photophobia EEG abnormality Apnea Mental deterioration Feeding difficulties in infancy Erythema Weight loss Nyctalopia Attention deficit hyperactivity disorder Aplasia/Hypoplasia of the cerebellum Generalized tonic-clonic seizures Lethargy Arthrogryposis multiplex congenita Autism Cerebral cortical atrophy Visual impairment Blindness Hyperreflexia Skeletal muscle atrophy Long face Gait disturbance Dysphagia Ventriculomegaly Abnormality of eye movement Abnormality of the eye Dolichocephaly Encephalopathy Hyporeflexia Cerebellar hypoplasia Rod-cone dystrophy Myoclonus Osteoporosis Intestinal obstruction Vestibular dysfunction Bifid scrotum Acute hepatic failure Abnormality of the coagulation cascade Acute kidney injury Malignant hyperthermia Myoglobinuria Ventricular extrasystoles Hyperphosphatemia Acute rhabdomyolysis Muscle stiffness Exercise-induced rhabdomyolysis Hypercapnia Elevated creatine kinase after exercise Necrotizing myopathy Intermittent painful muscle spasms Abnormality of skeletal muscles Tachypnea Metabolic acidosis Abnormality of masseter muscle Bilateral intracranial calcifications Abnormal mitochondrial shape Paralytic ileus Abnormal cochlea morphology Homonymous hemianopia Abnormality of acid-base homeostasis Episodic quadriplegia Morphological abnormality of the vestibule of the inner ear Ventricular flutter Morphological abnormality of the inner ear Prominent ear helix Left ventricular noncompaction Pulmonary edema Oliguria Left ventricular noncompaction cardiomyopathy High-output congestive heart failure Cardiomyocyte mitochondrial proliferation Progressive night blindness Increased serum ferritin Chorea Abnormality of extrapyramidal motor function Torticollis Cerebral palsy Slurred speech Muscle fibrillation Blepharospasm Neurodegeneration Cogwheel rigidity Scanning speech Refractory anemia Decreased serum ceruloplasmin Elevated hepatic iron concentration Decreased serum iron Parkinsonism Retinal degeneration Proximal muscle weakness Severe failure to thrive Lymphadenopathy Eczema Progressive muscle weakness Psoriasiform dermatitis Leukocytosis Progressive proximal muscle weakness Recurrent pharyngitis Poor speech Pyelonephritis Gastrointestinal inflammation Pharyngitis Spasticity Delayed speech and language development Difficulty walking Rigidity Cochlear degeneration Cochlear malformation Mask-like facies Heart block Drowsiness Atopic dermatitis Hashimoto thyroiditis Abnormality of visual evoked potentials Neonatal hypoglycemia Vitiligo Hypoparathyroidism Pulmonary embolism Mitochondrial myopathy Progressive external ophthalmoplegia Posterior subcapsular cataract Delusions Cardiorespiratory arrest Facial diplegia Distal arthrogryposis Primary adrenal insufficiency Visual hallucinations Dysphasia Hemiplegia/hemiparesis Abnormality of neuronal migration Overlapping toe Adrenal insufficiency Aphasia Abnormality of temperature regulation Visual field defect Abnormality of immune system physiology Prolonged QT interval Multiple lipomas Vertebral fusion Basal ganglia calcification Hyperthyroidism Rhabdomyolysis Thyroiditis Aortic dissection Increased CSF lactate Edema of the dorsum of hands Psychotic episodes Gastroparesis Amaurosis fugax Auditory hallucinations Abnormal nerve conduction velocity Renal Fanconi syndrome Tubulointerstitial abnormality Abnormality of the cerebellar vermis Leber optic atrophy Crohn's disease Hemeralopia Abnormal macular morphology Spotty hypopigmentation Paronychia Abnormal mitochondrial morphology Spontaneous hematomas Persistence of primary teeth Wolff-Parkinson-White syndrome Speech apraxia Reduced consciousness/confusion Gait imbalance Anterior hypopituitarism Stroke-like episode Seborrheic dermatitis Left ventricular failure Retinal pigment epithelial atrophy Writer's cramp Proximal tubulopathy Ileus Hemianopia Episodic vomiting Motor polyneuropathy Psychomotor deterioration Muscle fiber atrophy Nephrogenic diabetes insipidus Supraventricular arrhythmia Limb pain Triangular face Pointed chin Abnormal vertebral morphology Exotropia Renal dysplasia Cholestasis Hypertriglyceridemia Renal hypoplasia Coarctation of aorta Abnormality of the ribs Tetralogy of Fallot Gastrointestinal hemorrhage Prominent nose Round face Vesicoureteral reflux Hypodontia Multicystic kidney dysplasia Thrombocytopenia Deeply set eye Hyperlordosis Conductive hearing impairment Thin upper lip vermilion Pneumonia Craniosynostosis Retinopathy Microcornea Short philtrum Broad forehead Pulmonic stenosis Hepatic failure Flat face Short distal phalanx of finger Hemivertebrae Finger clinodactyly Brachycephaly Abnormal pupil morphology Pulmonary artery stenosis Coronal craniosynostosis Intrahepatic cholestasis Visceromegaly Cholestatic liver disease Thyroid carcinoma Peripheral pulmonary artery stenosis Hepatocellular carcinoma Fat malabsorption Hypopigmentation of the fundus Arterial stenosis Butterfly vertebrae Abnormal anterior chamber morphology Biliary atresia Dilatation of the cerebral artery Exocrine pancreatic insufficiency Spina bifida occulta Vertebral segmentation defect Hypercholesterolemia Renal hypoplasia/aplasia Portal hypertension Fetal ascites Hypoplasia of the ulna Malnutrition Chorioretinal atrophy Posterior embryotoxon Long nose Prolonged neonatal jaundice J-shaped sella turcica Keratoconus Vacuolated lymphocytes Abnormality of the ureter Autoimmunity Upslanted palpebral fissure Papillary thyroid carcinoma Nephritis Disproportionate short-trunk short stature Ovoid vertebral bodies Thoracic kyphosis Neutropenia Protuberant abdomen Multiple cafe-au-lait spots Steatorrhea Hypermelanotic macule Combined immunodeficiency High pitched voice Gliosis Brain atrophy Spondyloepiphyseal dysplasia Melanocytic nevus Glomerulonephritis Lymphoproliferative disorder Opacification of the corneal stroma Lumbar hyperlordosis Microdontia Heterotopia Abnormality of epiphysis morphology Lymphopenia Bone marrow hypocellularity Atherosclerosis Epiphyseal dysplasia Decreased testicular size Azoospermia Waddling gait Coarse hair Lymphoma Encephalitis B-cell lymphoma Villous atrophy Prominent forehead Frontal bossing Lateral displacement of the femoral head Neoplasm Micrognathia Strabismus Astigmatism Cryptorchidism Ventricular septal defect Anterior pituitary dysgenesis Atrial septal defect Intellectual disability, mild Clinodactyly Platyspondyly Hip dislocation Clinodactyly of the 5th finger Nephrosclerosis Premature arteriosclerosis Precocious atherosclerosis Mucopolysacchariduria Subvalvular aortic stenosis Dentinogenesis imperfecta Cellular immunodeficiency Right ventricular cardiomyopathy Arteriosclerosis Hypoplasia of the capital femoral epiphysis Multiple lentigines Moyamoya phenomenon Steroid-resistant nephrotic syndrome Shallow acetabular fossae Increased thyroid-stimulating hormone level Encephalomalacia Abnormal T cell morphology Abnormal immunoglobulin level Band keratopathy Axenfeld anomaly Corneal crystals Aortic root aneurysm Reduced ejection fraction Heat intolerance Progressive microcephaly Large earlobe Oligospermia Abnormality of the gastrointestinal tract Tubular atrophy Elevated serum creatinine Short chin Edema of the lower limbs Intellectual disability, progressive Poor head control Abnormal EKG Abnormality of lipid metabolism Wheezing Angina pectoris Impotence Tricuspid regurgitation Diabetes insipidus Cortical dysplasia Anhidrosis Loss of consciousness Palmoplantar hyperkeratosis Coronary artery atherosclerosis Glycosuria Elevated erythrocyte sedimentation rate Interstitial pulmonary abnormality Abnormality of vision Orthostatic hypotension Celiac disease Abnormal heart valve morphology Clubbing of fingers Chronic obstructive pulmonary disease Clubbing Microalbuminuria Abnormal thrombosis Depressed nasal ridge Abnormal cornea morphology Palmoplantar keratoderma Fine hair Conjunctival telangiectasia Primary hypothyroidism Chronic pain Biventricular hypertrophy Abnormal endocardium morphology Abnormality of cardiovascular system physiology Decreased female libido Vascular skin abnormality Retinal vascular tortuosity Tubulointerstitial fibrosis Abnormal renal physiology Achalasia Pachygyria Sinus bradycardia Myocardial fibrosis Chronic fatigue Abnormality of femur morphology Abnormality of the nose Restrictive cardiomyopathy High-frequency hearing impairment Miosis Asymmetric septal hypertrophy Abnormal mitral valve morphology Periorbital fullness Gastrointestinal dysmotility Abnormal aortic valve morphology T-wave inversion Impaired vibratory sensation Polydipsia Vitamin D deficiency Ascites Hydrops fetalis Hyperkeratosis Mandibular prognathia Arthralgia Arthritis Abnormality of the nervous system Skin rash Posteriorly rotated ears Cough Papule Abnormality of the cerebral white matter Abnormality of the foot Respiratory tract infection Inguinal hernia Hyperhidrosis Aspiration Thick vermilion border Reduced number of intrahepatic bile ducts Renal artery stenosis Multiple small medullary renal cysts Chronic hepatic failure Intrahepatic biliary atresia Unicoronal synostosis Rectourethral fistula Butterfly vertebral arch Abnormality of the thorax Conjugated hyperbilirubinemia Dysostosis multiplex Fair hair Esophageal atresia Midface retrusion Metaphyseal irregularity Thick eyebrow Hematuria Abnormal corpus callosum morphology Progressive hearing impairment Spontaneous abortion High palate Aminoaciduria Generalized hypotonia Aortic regurgitation Abnormal intestine morphology Optic disc hypoplasia Fasciculations Ventricular arrhythmia Tinnitus Diffuse palmoplantar keratoderma Perisylvian polymicrogyria Prominent supraorbital ridges Abnormality of the hand Abnormal autonomic nervous system physiology Bradycardia Hernia Hydrocephalus Abdominal distention Chest pain Splenomegaly Urinary incontinence Hypotension Mitral valve prolapse Thick lower lip vermilion Hypohidrosis Anteverted nares Myocardial infarction Palpitations Mitral regurgitation Subcutaneous nodule Epicanthus Aceruloplasminemia
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