Hypertension, and Renal dysplasia

Diseases related with Hypertension and Renal dysplasia

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

Top matches:

Related symptoms:

  • Hypertension
  • Renal insufficiency
  • Pulmonary hypoplasia
  • Renal cyst
  • Vesicoureteral reflux


SOURCES: OMIM MESH MENDELIAN

More info about RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO; CYSRD

Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a broad spectrum of renal and urinary tract malformations. CAKUT structural anomalies range from complete renal agenesis (the most severe), to renal hypodysplasia, multicystic kidney dysplasia, duplex renal collecting system, ureteropelvic junction obstruction (UPJO), megaureter, posterior urethral valves (PUV), and vesicoureteral reflux (VUR). Renal abnormalities are observed in close relatives of up to 10% of CAKUT patients, although these are frequently asymptomatic. The phenotype often does not follow classic mendelian inheritance: family members with the same genetic defect may have variable phenotypes, ranging from severe renal insufficiency to asymptomatic anomalies. CAKUT occurs in about 1 in 500 live births, but are severe enough to cause neonatal death in about 1 in 2,000 births. In addition, CAKUT can occur in syndromic disorders in association with other congenital anomalies, such as papillorenal syndrome (OMIM ) (summary by Renkema et al., 2011). Genetic Heterogeneity of Congenital Anomalies of Kidney and Urinary TractAlso see CAKUT2 (OMIM ), caused by mutation in the TBX18 gene (OMIM ) on chromosome 6q14.

CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1; CAKUT1 Is also known as renal hypodysplasia, nonsyndromic, 1|rhdns1

Related symptoms:

  • Hearing impairment
  • Hypertension
  • Renal insufficiency
  • Hydronephrosis
  • Stage 5 chronic kidney disease


SOURCES: OMIM MESH MENDELIAN

More info about CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1; CAKUT1

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 8; COQ10D8

Other less relevant matches:

Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.

RENAL AGENESIS, BILATERAL Is also known as renal aplasia|renal adysplasia|hereditary renal aplasia|renal agenesis|hra

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL AGENESIS, BILATERAL

NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.

NPHP3-RELATED MECKEL-LIKE SYNDROME Is also known as renal-hepatic-pancreatic dysplasia with dandy-walker cyst|meckel-like syndrome type 1|renal-hepatic-pancreatic dysplasia-dandy-walker cysts syndrome|meckel syndrome type 7|goldston syndrome

Related symptoms:

  • Respiratory insufficiency
  • Atrial septal defect
  • Hypertonia
  • Dilatation
  • Patent ductus arteriosus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NPHP3-RELATED MECKEL-LIKE SYNDROME

Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.

SENIOR-LOKEN SYNDROME Is also known as renal-retinal syndrome|juvenile nephronophthisis with leber amaurosis|loken-senior syndrome|renal dysplasia-retinal aplasia syndrome|nephronophthisis with retinal dystrophy|slsn|renal dysplasia and retinal aplasia|senior-loken syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SENIOR-LOKEN SYNDROME

Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.

RENAL COLOBOMA SYNDROME Is also known as renal-coloboma syndrome|congenital anomalies of the kidney and urinary tract with or without ocular abnormalities|optic coloboma, vesicoureteral reflux, and renal anomalies|papillo-renal syndrome|coloboma of optic nerve with renal disease|renal-coloboma s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RENAL COLOBOMA SYNDROME

COXPD11 is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes (summary by Garcia-Diaz et al., 2012).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11 Is also known as coxpd11|encephaloneuromyopathy, infantile, due to mitochondrial translation defect

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11

ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION Is also known as syndromic bile duct paucity due to a notch2 point mutation|arteriohepatic dysplasia due to a notch2 point mutation|alagille-watson syndrome due to a notch2 point mutation

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION

NAIL-PATELLA SYNDROME; NPS Is also known as turner-kieser syndrome|nps1|fong disease|onychoosteodysplasia

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about NAIL-PATELLA SYNDROME; NPS

Top 5 symptoms//phenotypes associated to Hypertension and Renal dysplasia

Symptoms // Phenotype % cases
Renal insufficiency Common - Between 50% and 80% cases
Renal hypoplasia Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Renal cyst Uncommon - Between 30% and 50% cases
Oligohydramnios Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertension and Renal dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Proteinuria Multicystic kidney dysplasia Abnormality of the kidney Stage 5 chronic kidney disease Pulmonary hypoplasia Global developmental delay Seizures Nephritis Chronic kidney disease Vesicoureteral reflux Visual impairment Nephropathy Sensorineural hearing impairment Intellectual disability Short stature Cataract

Rare Symptoms - Less than 30% cases

Renal tubular acidosis Talipes Confusion Abnormality of the genitourinary system Breech presentation Glaucoma Edema Bilateral renal hypoplasia Potter facies Scarring Respiratory insufficiency Retinopathy Tubulointerstitial nephritis Patent ductus arteriosus Cholestasis Nystagmus Anemia Hepatic fibrosis Progressive visual loss Congenital hepatic fibrosis Tapetoretinal degeneration Hematuria Atrial septal defect Abnormality of the skeletal system Feeding difficulties Acidosis Pain Hepatomegaly Generalized hypotonia Ureteropelvic junction obstruction Failure to thrive Unilateral renal agenesis Hypertelorism Elevated serum creatinine Arthrogryposis multiplex congenita Renal agenesis Cleft palate Hydronephrosis Cystic renal dysplasia Talipes equinovarus Cyanosis Cardiomyopathy Jaundice Abnormality of the liver Abnormal cardiac septum morphology Stroke Broad forehead Hypoplasia of the corpus callosum Short neck Pulmonic stenosis Pruritus Pigmentary retinopathy Microcephaly Malabsorption Cirrhosis Hepatic failure Peripheral neuropathy Mandibular prognathia Ureterovesical junction obstruction Triangular face Lactic acidosis Ventricular septal defect Myopathy Myoclonus Hepatic steatosis Delayed myelination Lethargy Neonatal hypotonia Increased serum lactate Epileptic encephalopathy Tetralogy of Fallot Decreased liver function Respiratory failure Fasciculations Severe muscular hypotonia CNS hypomyelination Cerebral cortical atrophy Failure to thrive in infancy Abnormal heart morphology Hyponatremia Hyperkalemia Hyporeflexia Areflexia Encephalopathy Hypoventilation Absent speech Cerebral atrophy Increased CSF lactate Tongue fasciculations Microvesicular hepatic steatosis Cognitive impairment Abnormality of the foot Splenomegaly Pachygyria Butterfly vertebrae Coarctation of aorta Raynaud phenomenon Microalbuminuria Aplasia/Hypoplasia of the patella Patellar hypoplasia Concave nail Ridged nail Patellar aplasia Blue irides Congenital nephrotic syndrome Abnormality of the elbow Patellar dislocation Renal cell carcinoma Keratoconus Colon cancer Limited elbow extension Cervical ribs Albuminuria Glomerulonephritis Stellate iris Lester's sign Absence of pectoralis minor muscle Elongated radius Triceps aplasia Disproportionate prominence of the femoral medial condyle Quadriceps aplasia Thickening of the lateral border of the scapula Absent distal interphalangeal creases Hypoplastic radial head Iliac horns Glenoid fossa hypoplasia Hypoplasia of first ribs Microphakia Deep-set nails Antecubital pterygium Anonychia Pterygium Increased body weight Pulmonary artery stenosis Axenfeld anomaly Dark urine Macular hyperpigmentation Peripheral pulmonary artery stenosis Cholestatic liver disease Wolff-Parkinson-White syndrome Poor coordination Neoplasm Exocrine pancreatic insufficiency Posterior embryotoxon Long nose Heart murmur Rickets Pointed chin Scoliosis Ptosis Abnormality of the urinary system Microcornea Aortic regurgitation Spina bifida Recurrent urinary tract infections Lumbar hyperlordosis Nephrotic syndrome Nail dysplasia Oral cleft Pectus excavatum Cleft upper lip Paresthesia Nail dystrophy Cleft lip Pes planus Osteoporosis Clinodactyly of the 5th finger Recurrent pyelonephritis Joint hyperflexibility Orbital cyst Intestinal malrotation Abnormal sacrum morphology Nonketotic hypoglycemia Urogenital fistula Urethral obstruction Sirenomelia Bilateral renal dysplasia Fetal polyuria Hypertonia Dilatation Inguinal hernia Polydactyly Polyhydramnios High forehead Hepatosplenomegaly Dandy-Walker malformation Abnormality of female internal genitalia Encephalocele Large fontanelles Aortic valve stenosis Situs inversus totalis Portal hypertension Occipital encephalocele Postaxial foot polydactyly Right ventricular hypertrophy Abnormality of the pancreas Biliary cirrhosis Bile duct proliferation Pancreatic cysts Hepatic cysts Meningoencephalocele Bilateral renal agenesis Vaginal atresia Choroid plexus cyst Peripheral demyelination Hyperechogenic kidneys Hypercalciuria Hydroureter Congenital posterior urethral valve Growth delay Muscle weakness Muscular hypotonia Flexion contracture Motor delay Intrauterine growth retardation Respiratory distress Postnatal growth retardation Small for gestational age Polyneuropathy Progressive muscle weakness Bicornuate uterus Abnormal renal corticomedullary differentiation Abnormal facial shape Cryptorchidism Low-set ears Epicanthus Abnormality of cardiovascular system morphology Retrognathia Falls Primary amenorrhea Depressed nasal ridge Abnormal intestine morphology Polycystic kidney dysplasia Tracheoesophageal fistula Non-midline cleft lip Multiple glomerular cysts Abnormal biliary tract morphology Morning glory anomaly Severe vision loss Hydrocephalus Microphthalmia Reduced visual acuity Joint laxity Coloboma Retinal detachment Gliosis Abnormality of the genital system Nephrolithiasis Horseshoe kidney Macular degeneration Hyperextensible skin Visual field defect Chorioretinal atrophy Arnold-Chiari type I malformation Strabismus Soft skin Abnormality of the vasculature Multiple renal cysts Hydrocele testis Optic nerve coloboma Retinal coloboma High-frequency hearing impairment Pyelonephritis Platybasia Lens luxation Mild proteinuria Optic nerve dysplasia Scleral staphyloma Renal malrotation Myopia Exudative retinopathy Pancreatic dysplasia Involuntary movements Abnormal liver parenchyma morphology Ataxia Fatigue Blindness Vomiting Visual loss Rod-cone dystrophy Weight loss Photophobia Nyctalopia Hypermetropia Retinal degeneration Nausea Retinal dystrophy Abnormality of retinal pigmentation Multiple small medullary renal cysts Incoordination Polydipsia Premature ovarian insufficiency Cone-shaped epiphysis Polyuria Diabetes insipidus Nephronophthisis High hypermetropia Congenital blindness Severe sensorineural hearing impairment Peripheral visual field loss Retinal dysplasia Abnormality of bone mineral density Azotemia Biceps aplasia


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