Ventricular septal defect, and Nephrotic syndrome

Diseases related with Ventricular septal defect and Nephrotic syndrome

In the following list you will find some of the most common rare diseases related to Ventricular septal defect and Nephrotic syndrome that can help you solving undiagnosed cases.


Top matches:

Medium match VENTRICULOMEGALY-CYSTIC KIDNEY DISEASE


Ventriculomegaly with cystic kidney disease is a severe autosomal recessive developmental disorder characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts. The pregnancies of affected individuals are associated with increased alpha-fetoprotein (AFP). Most affected pregnancies have been terminated (summary by Slavotinek et al., 2015).See also {602200} for a disorder characterized by ventriculomegaly and defects of the radius and kidney.

VENTRICULOMEGALY-CYSTIC KIDNEY DISEASE Is also known as congenital nephrosis-cerebral ventriculomegaly syndrome|vmckd

Related symptoms:

  • Seizures
  • Ventricular septal defect
  • Ventriculomegaly
  • Hydrocephalus
  • Renal insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about VENTRICULOMEGALY-CYSTIC KIDNEY DISEASE

Medium match IMMUNODEFICIENCY DUE TO FICOLIN3 DEFICIENCY


Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear.

IMMUNODEFICIENCY DUE TO FICOLIN3 DEFICIENCY Is also known as fcn3 deficiency|lectin complement activation pathway, defect in, 3|lcapd3

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Growth delay
  • Ventricular septal defect
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY DUE TO FICOLIN3 DEFICIENCY

Low 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. 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

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Other less relevant matches:

Low match NEPHROTIC SYNDROME, TYPE 15; NPHS15


NPHS15 is an autosomal recessive renal disorder characterized by onset of impaired kidney function with proteinuria in the first months of life. The disease course and severity varies widely. Some patients show rapid progression to end-stage renal failure necessitating transplant, whereas others have a more benign course that can be managed with medication. Renal biopsy tends to show glomerular sclerosis and effacement of podocyte foot processes (summary by Bierzynska et al., 2017).For a discussion of genetic heterogeneity of nephrotic syndrome and FSGS, see NPHS1 (OMIM ).

Related symptoms:

  • Renal insufficiency
  • Polydactyly
  • Proteinuria
  • Pulmonic stenosis
  • Stage 5 chronic kidney disease


SOURCES: OMIM MENDELIAN

More info about NEPHROTIC SYNDROME, TYPE 15; NPHS15

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 PERIVENTRICULAR NODULAR HETEROTOPIA


Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.

PERIVENTRICULAR NODULAR HETEROTOPIA Is also known as heterotopia, periventricular, ehlers-danlos variant|periventricular nodular heterotopia 4, formerly|heterotopia, familial nodular|heterotopia, periventricular, x-linked dominant|pvnh4, formerly|nhbp|nodular heterotopia, bilateral periventricular|bpnh

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about PERIVENTRICULAR NODULAR HETEROTOPIA

Low match AA AMYLOIDOSIS


Secondary amyloidosis is a form of amyloidosis (see this term), that complicates chronic inflammatory disorders (mainly rheumatoid arthritis, see this term) and is characterized by the aggregation and deposition of amyloid fibrils composed of serum amyloid A protein, an acute phase reactant. Although spleen, suprarenal gland, liver and gut are frequent sites of amyloid deposition, the clinical picture is dominated by renal involvement.

AA AMYLOIDOSIS Is also known as secondary amyloidosis|inflammatory amyloidosis|reactive amyloidosis

Related symptoms:

  • Hepatomegaly
  • Vomiting
  • Abnormal heart morphology
  • Abdominal pain
  • Hypothyroidism


SOURCES: ORPHANET MENDELIAN

More info about AA AMYLOIDOSIS

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33


COXPD33 is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. The phenotype is highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy. A common finding is cardiomyopathy and increased serum lactate (summary by Feichtinger et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Peripheral neuropathy
  • Hepatomegaly
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33

Low match EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE


Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations.

EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE Is also known as mceds|arthrogryposis, distal, with peculiar facies and hydronephrosis|adducted thumb-clubfoot syndrome|ehlers-danlos syndrome, type vib, formerly|atcs|adducted thumb, clubfoot, and progressive joint and skin laxity syndrome|eds6b, formerly|dundar syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE

Low 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

Top 5 symptoms//phenotypes associated to Ventricular septal defect and Nephrotic syndrome

Symptoms // Phenotype % cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Abnormality of the kidney Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ventricular septal defect and Nephrotic syndrome. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Stroke Short stature Hypothyroidism Nephropathy Malabsorption Stage 5 chronic kidney disease Proteinuria Dilatation Heterotopia Emphysema Depressed nasal bridge Cryptorchidism Myopia Strabismus Scarring Hypertelorism Hearing impairment Global developmental delay Hepatomegaly Chronic kidney disease Cardiomyopathy Congestive heart failure Vomiting Recurrent infections Glomerulosclerosis Growth delay Constipation Hypertension

Rare Symptoms - Less than 30% cases


Fatigue Diarrhea Fever Peripheral neuropathy Anemia Headache Posteriorly rotated ears Patent foramen ovale Cognitive impairment Abnormal form of the vertebral bodies Malnutrition Exotropia Lymphedema Abnormal anterior chamber morphology Peripheral arterial stenosis Corneal dystrophy Abnormality of the vasculature Renal tubular acidosis Heart murmur Telangiectasia of the skin Abdominal pain Left ventricular hypertrophy Developmental regression Atrioventricular block Thin upper lip vermilion Osteopenia Short neck Motor delay Scoliosis Astigmatism Muscle weakness Congenital nephrotic syndrome Abnormality of the coagulation cascade Intestinal malrotation Joint hypermobility Encephalopathy Abnormal renal physiology Glomerulopathy Reduced bone mineral density Corneal opacity Aortic regurgitation Ventricular tachycardia Hyperlipidemia Exercise intolerance Coarctation of aorta Abnormal lung morphology Mitral regurgitation Myocardial infarction Ventricular hypertrophy Mitral valve prolapse Hypotension Thick eyebrow Bulbous nose Nausea Cholestasis Transient ischemic attack Intellectual disability, mild Immunodeficiency Recurrent skin infections Abnormality of skin pigmentation Delayed puberty Pneumonia Acidosis Pulmonic stenosis Coarse facial features Pruritus Cataract Microcephaly Broad forehead Elevated hepatic transaminase Carcinoma Protruding ear Premature birth Abnormality of the liver Polydactyly Brachycephaly Short philtrum Abnormality of the skeletal system Microcornea Intrauterine growth retardation Atrial septal defect Ventriculomegaly Downslanted palpebral fissures Oligohydramnios Increased serum lactate Metabolic acidosis Renal cyst Lower limb muscle weakness Limb muscle weakness Ophthalmoplegia Myopathy Elevated serum creatine phosphokinase Ptosis Hydronephrosis Joint laxity Telecanthus Hepatic amyloidosis Cardiac amyloidosis Abnormal cardiac ventricle morphology Renal amyloidosis Abnormal oral mucosa morphology Umbilical hernia Pectus excavatum Hernia Muscular hypotonia Long philtrum Short nose Inguinal hernia Talipes equinovarus Polyhydramnios High palate Glaucoma Flexion contracture Cleft palate Postaxial polydactyly Cardiomegaly Generalized hypotonia Abnormal echocardiogram Respiratory failure Narrow mouth Progressive external ophthalmoplegia Kyphoscoliosis External ophthalmoplegia Amblyopia Hydrocephalus Retrognathia Vesicoureteral reflux Enlarged kidney Abnormality of glycosphingolipid metabolism Abnormality of the common coagulation pathway Increased glomerular filtration rate Increased carotid artery intimal medial thickness Abnormal ST segment Abnormal common carotid artery morphology Acroparesthesia Heavy proteinuria Tenesmus Left ventricular septal hypertrophy Tortuosity of conjunctival vessels Hyperkeratotic papule Abnormality of the forehead Impaired renal concentrating ability Cornea verticillata Functional abnormality of the gastrointestinal tract ST segment depression Unexplained fevers Mucosal telangiectasiae Concentric hypertrophic cardiomyopathy Coronary artery stenosis Shortened PR interval Decreased lacrimation Angiokeratoma corporis diffusum Shortened QT interval Hyposthenuria Impaired temperature sensation Abnormal glomerular filtration rate Wide nasal bridge Acute kidney injury Abnormality of neuronal migration Amyloidosis Adrenal insufficiency Blepharophimosis Chronic diarrhea Abnormal heart morphology Subependymal nodules Renal corticomedullary cysts Dyslexia Widow's peak Enlarged cisterna magna Shawl scrotum Cortical dysplasia Periventricular gray matter heterotopia Intellectual disability, severe Aortic aneurysm Bicuspid aortic valve Lissencephaly Generalized-onset seizure Focal-onset seizure Confusion Skeletal dysplasia Micropenis Agenesis of corpus callosum Cerebellar hypoplasia Patent ductus arteriosus Syndactyly Venous thrombosis Tapered finger Arthrogryposis multiplex congenita Azoospermia Hypermelanotic macule Combined immunodeficiency High pitched voice Focal segmental glomerulosclerosis Spondyloepiphyseal dysplasia Melanocytic nevus Nephritis Glomerulonephritis Epiphyseal dysplasia Encephalitis Coarse hair Atherosclerosis Multiple cafe-au-lait spots Opacification of the corneal stroma Bone marrow hypocellularity Lymphopenia Abnormality of epiphysis morphology Fine hair Intellectual disability, profound Lumbar hyperlordosis Microdontia Decreased testicular size Waddling gait Lymphoma Migraine Steatorrhea Protuberant abdomen Gliosis Mucopolysacchariduria Nephrosclerosis Anterior pituitary dysgenesis Premature arteriosclerosis Moyamoya phenomenon Abnormal immunoglobulin level Abnormal T cell morphology Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Multiple lentigines Hypoplasia of the capital femoral epiphysis Thoracic kyphosis Arteriosclerosis Right ventricular cardiomyopathy Cellular immunodeficiency Dentinogenesis imperfecta Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Villous atrophy Lymphoproliferative disorder B-cell lymphoma Disproportionate short-trunk short stature Ovoid vertebral bodies Brain atrophy Abnormal cerebellum morphology Facial asymmetry Horseshoe kidney Bilateral talipes equinovarus Cerebral hemorrhage Bilateral cryptorchidism Congenital contracture Pterygium Hyperextensible skin Adducted thumb Cutis laxa Microretrognathia Joint dislocation Narrow palate Low anterior hairline Atrophic scars Nephrolithiasis Large fontanelles Recurrent urinary tract infections Thin skin Blue sclerae High myopia Angiokeratoma Retinal detachment High, narrow palate Bruising susceptibility Arachnodactyly Talipes Delayed cranial suture closure Prolonged bleeding time Neutropenia Talipes valgus Platyspondyly Hip dislocation Autoimmunity Hyperlordosis Dementia Thrombocytopenia Kyphosis Abnormality of the dentition Cerebellar atrophy Abnormality of the duodenum Hyperalgesia Decreased palmar creases Flat forehead Abnormality of the sternum Endocarditis Dermal translucency Pneumothorax Ecchymosis Generalized joint laxity Diastasis recti Low hanging columella Hiatus hernia Abnormality of the mouth Distal arthrogryposis Absent septum pellucidum Fragile skin Obstructive lung disease Vascular skin abnormality Reduced sperm motility Optic atrophy Macrotia Arrhythmia Depressivity Midface retrusion Jaundice Behavioral abnormality Hepatosplenomegaly Deeply set eye Edema Respiratory insufficiency Conductive hearing impairment Craniosynostosis Hyperkeratosis Pain Sensorineural hearing impairment Podocyte foot process effacement Minimal change glomerulonephritis Retinopathy Pyloric stenosis Hypoalbuminemia Butterfly vertebral arch Reduced number of intrahepatic bile ducts Rectourethral fistula Unicoronal synostosis Hyperhidrosis Dyspnea Chronic hepatic failure Abnormality of the cerebral white matter Abdominal distention Muscle cramps Hematuria Thick vermilion border Areflexia Delayed skeletal maturation Tachycardia Clinodactyly of the 5th finger Vertigo Paresthesia Nausea and vomiting Papule Mandibular prognathia Prominent forehead Prominent nasal bridge Cough Skin rash Upslanted palpebral fissure Hypertrophic cardiomyopathy Abnormality of the nervous system Anxiety Arthritis Myalgia Arthralgia Intrahepatic biliary atresia Multiple small medullary renal cysts Sudden cardiac death Short distal phalanx of finger Hepatic failure Portal hypertension Renal hypoplasia/aplasia Flat face Hypercholesterolemia Spina bifida occulta Finger clinodactyly Multicystic kidney dysplasia Hemivertebrae Pointed chin Abnormal vertebral morphology Hypopigmentation of the skin Hypoplasia of the ulna Renal dysplasia Hypodontia Hypertriglyceridemia Renal hypoplasia Triangular face Abnormality of the ribs Tetralogy of Fallot Pigmentary retinopathy Specific learning disability Gastrointestinal hemorrhage Prominent nose Cirrhosis Vertebral segmentation defect Renal artery stenosis Thyroid carcinoma Vitamin D deficiency Axenfeld anomaly Papillary thyroid carcinoma Band keratopathy Biliary atresia Butterfly vertebrae Arterial stenosis Hypopigmentation of the fundus Fat malabsorption Peripheral pulmonary artery stenosis Abnormal pupil morphology Cholestatic liver disease Chorioretinal atrophy Intrahepatic cholestasis Coronal craniosynostosis Pulmonary artery stenosis Dilatation of the cerebral artery Hepatocellular carcinoma Exocrine pancreatic insufficiency Posterior embryotoxon Abnormality of the ureter Keratoconus Anal atresia Prolonged neonatal jaundice Long nose Chest pain Syncope Increased blood urea nitrogen Angina pectoris Asymmetric septal hypertrophy High-frequency hearing impairment Abnormal myocardium morphology Restrictive cardiomyopathy Abnormality of the nose Abnormality of femur morphology Chronic fatigue Myocardial fibrosis Sinus bradycardia Achalasia Chronic obstructive pulmonary disease Clubbing of fingers Periorbital fullness Reduced ejection fraction Heat intolerance Supraventricular tachycardia Large earlobe Oligospermia Abnormality of the gastrointestinal tract Tubular atrophy Elevated serum creatinine Tubulointerstitial nephritis Edema of the lower limbs Renal tubular dysfunction Abnormal mitral valve morphology Gastrointestinal dysmotility Xerostomia Abnormal endocardium morphology Distal renal tubular acidosis Vascular tortuosity Decreased glomerular filtration rate Nephrogenic diabetes insipidus Abnormality of temperature regulation Limb pain Corneal crystals Retinal vascular tortuosity Round face Decreased female libido Abnormality of cardiovascular system physiology Biventricular hypertrophy Abnormal aortic valve morphology Primary hypothyroidism Microalbuminuria Conjunctival telangiectasia Supraventricular arrhythmia Dysesthesia Abnormal cornea morphology Abnormality of the renal tubule Abnormal thrombosis Tubulointerstitial fibrosis Chronic pain Miosis T-wave inversion Recurrent lower respiratory tract infections Abnormal EKG Urinary incontinence Abnormal autonomic nervous system physiology Tinnitus Ventricular arrhythmia Neoplasm Ischemic stroke Progressive hearing impairment Abnormal intestine morphology Failure to thrive Micrognathia Purpura Aminoaciduria Spontaneous abortion Fasciculations Recurrent abscess formation Bradycardia Hypohidrosis Anorexia Subcutaneous nodule Frontal bossing Palpitations Atrial fibrillation Thick lower lip vermilion Clinodactyly Abnormality of the cardiovascular system Visual loss Easy fatigability Membranous nephropathy Abnormality of lipid metabolism Impotence Aortic root aneurysm Wheezing Glycosuria Abnormal heart valve morphology Verrucae Celiac disease Orthostatic hypotension Progressive sensorineural hearing impairment Interstitial pulmonary abnormality Elevated erythrocyte sedimentation rate Coronary artery atherosclerosis Bundle branch block Prominent supraorbital ridges Loss of consciousness Enterocolitis Anhidrosis Polyuria Diabetes insipidus Tricuspid regurgitation Impaired vibratory sensation Clubbing Personality changes Polydipsia Hemiplegia Abnormality of the hand Lateral displacement of the femoral head



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