Hypertension, and Renal agenesis

Diseases related with Hypertension and Renal agenesis

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

Top matches:

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

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

Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine.

CAUDAL REGRESSION SEQUENCE Is also known as sacral agenesis syndrome|caudal dysplasia|sacral regression syndrome

Related symptoms:

  • Scoliosis
  • Cryptorchidism
  • Hypertension
  • Talipes equinovarus
  • Renal insufficiency


SOURCES: ORPHANET MENDELIAN

More info about CAUDAL REGRESSION SEQUENCE

Other less relevant matches:

LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2 Is also known as aplcc|aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies

Related symptoms:

  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2

Scalp-ear-nipple syndrome is characterised by the following triad: areas of hairless raw skin over the scalp (present at birth and healing during childhood), prominent, hypoplastic ears with almost absent pinnae, and bilateral amastia. Thirty cases have been described so far. Renal and urinary tract abnormalities, as well as cataract, have also been observed. Transmission is autosomal dominant.

SCALP-EAR-NIPPLE SYNDROME Is also known as finlay-marks syndrome|sen syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Abnormal facial shape
  • Cataract
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SCALP-EAR-NIPPLE SYNDROME

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4

LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Genetic Heterogeneity of LEOPARD SyndromeLEOPARD syndrome is a genetically heterogeneous disorder. See also LEOPARD syndrome-2 (OMIM ), caused by mutation in the RAF1 gene (OMIM ), and LEOPARD syndrome-3 (OMIM ), caused by mutation in the BRAF gene (OMIM ).

LEOPARD SYNDROME 1; LPRD1 Is also known as multiple lentigines syndrome|lentiginosis, cardiomyopathic

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 1; LPRD1

The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2)|proximal monosomy 16p11.2

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME

Adams-Oliver syndrome is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrent findings. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Hypertension
  • Brachydactyly
  • Ventricular septal defect
  • Syndactyly
  • Abnormal heart morphology


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 6; AOS6

Medullary cystic kidney disease (MCKD) is an autosomal dominant form of tubulointerstitial nephropathy characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of impaired renal function and salt wasting resulting in end-stage renal failure by the sixth decade (Wolf et al., 2004).Although early reports suggested that medullary cystic kidney disease and familial juvenile nephronophthisis (NPHP1 ) represented the same disease entity because of the overlapping phenotype (Chamberlin et al., 1977), they are now considered to be distinct disorders. MCKD has adult onset and shows autosomal dominant inheritance, whereas NPHP1 has juvenile onset and shows autosomal recessive inheritance (Christodoulou et al., 1998). NPHP1 is caused by mutation in the nephrocystin gene (NPHP1 ) on chromosome 2q13. Genetic Heterogeneity of Medullary Cystic Kidney DiseaseSee also MCKD2 (OMIM ), which is caused by mutation in the UMOD gene (OMIM ) on chromosome 16p.

MEDULLARY SPONGE KIDNEY Is also known as cacchi-ricci disease|msk|medullary cystic kidney disease, autosomal dominant|admckd1|polycystic kidneys, medullary type|mckd|precalicial canalicular ectasia

Related symptoms:

  • Pain
  • Anemia
  • Hypertension
  • Renal insufficiency
  • Cerebral cortical atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEDULLARY SPONGE KIDNEY

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

Symptoms // Phenotype % cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Renal hypoplasia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Unilateral renal agenesis Uncommon - Between 30% and 50% cases
Renal insufficiency Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears Growth delay Cleft palate Hypertelorism Aplasia cutis congenita Respiratory insufficiency Hearing impairment Scoliosis Abnormality of the kidney Hernia Atrial septal defect Myopia Microcephaly Missing ribs Posteriorly rotated ears Ureteral duplication Abnormality of cardiovascular system morphology Talipes equinovarus Epicanthus Vesicoureteral reflux Abnormal facial shape

Rare Symptoms - Less than 30% cases

Clinodactyly Intellectual disability Pulmonary arterial hypertension Seizures Congenital diaphragmatic hernia Telecanthus Hyperactivity Dilatation Short nose Strabismus Microphthalmia Syndactyly Pain Ptosis Delayed speech and language development Intellectual disability, mild Short stature Anteverted nares Short neck Mandibular prognathia Wide nasal bridge Mitral regurgitation Tapered finger Pulmonic stenosis Pectus carinatum Midface retrusion Recurrent infections Abnormal heart morphology Anemia Micropenis Sensorineural hearing impairment Aplasia cutis congenita of scalp Narrow palpebral fissure Renal cyst Coloboma Blepharophimosis Protruding ear Abnormality of the pinna Kyphosis Congestive heart failure Bilateral renal hypoplasia Pulmonary hypoplasia Polycystic kidney dysplasia Retrognathia Proteinuria Talipes Depressed nasal ridge Hypercalciuria Stage 5 chronic kidney disease Multicystic kidney dysplasia Hydronephrosis Renal dysplasia Oligohydramnios Abnormal aortic valve morphology Renal cortical cysts Abnormal mitral valve morphology Hyposmia Flank pain Multiple cafe-au-lait spots Renal corticomedullary cysts Tubulointerstitial abnormality Angina pectoris Heart block Subvalvular aortic stenosis Truncus arteriosus Limited elbow movement Micrognathia Intrauterine growth retardation Motor delay Feeding difficulties Cognitive impairment Decreased glomerular filtration rate Muscular hypotonia Aplasia of the ovary Distal renal tubular acidosis Coronary artery aneurysm Numerous nevi Hypoplasia of the ovary Third degree atrioventricular block Severe hearing impairment Parietal bossing Multiple lentigines Delayed menarche Pterygium Bundle branch block Triangular face Impaired renal uric acid clearance Pyuria Hypospadias Depressivity Pectus excavatum Arrhythmia Global glomerulosclerosis Alopecia Hyperkeratosis Kyphoscoliosis Neonatal hypotonia Conductive hearing impairment Hypertrophic cardiomyopathy Delayed puberty Chest pain Bilateral cryptorchidism Syncope Webbed neck Overgrowth Myocardial infarction Abnormality of the genital system Cafe-au-lait spot Aortic valve stenosis Scapular winging Spina bifida occulta Mutism Tubular basement membrane disintegration Ventriculomegaly Cubitus valgus Multiple small medullary renal cysts Macrocephaly Behavioral abnormality Oligodactyly Polyuria Nephritis Brachydactyly Absent nasal bridge Widely-spaced maxillary central incisors Chorioretinitis Pulmonary artery atresia Optic nerve coloboma Polydipsia Nephronophthisis Hydrocele testis Multiple renal cysts Severe intrauterine growth retardation Arnold-Chiari type I malformation Hyperuricemia Severe combined immunodeficiency Ventricular septal defect Abnormal cardiac septum morphology Long nose Tricuspid regurgitation Cutis marmorata Hypoplastic toenails Calvarial skull defect Esophageal varix Foot oligodactyly Cutis marmorata telangiectatica congenita Cerebral cortical atrophy Glomerulosclerosis Portal hypertension Hematuria Nephropathy Hepatic fibrosis Hypotension Nephrolithiasis Chronic kidney disease Syringomyelia Gout Malar flattening Deeply set eye Smooth philtrum Broad forehead Attention deficit hyperactivity disorder Wide mouth Tubulointerstitial fibrosis Autistic behavior EEG abnormality Small hand Macrotia Gastroesophageal reflux Autism Polydactyly Inguinal hernia Obesity Immunodeficiency Flat face Thin bony cortex Combined immunodeficiency Hemihypertrophy Elevated serum creatinine Anophthalmia Tubulointerstitial nephritis Fair hair Renal salt wasting Hand polydactyly Tubular atrophy Bilateral ptosis Underdeveloped nasal alae Pyloric stenosis Aortic regurgitation Microretrognathia Hemivertebrae Pointed chin Short toe Psychosis Language impairment Sepsis Cardiomyopathy Highly arched eyebrow Spontaneous abortion Ventricular hypertrophy Optic disc pallor Tetralogy of Fallot Wide intermamillary distance Delayed myelination High forehead Sandal gap Upslanted palpebral fissure Long philtrum Hypoplasia of the corpus callosum Visual impairment Abnormality of the wing of the ilium Aplasia/Hypoplasia of the sacrum Short chin Erythroderma Hypoplastic vertebral bodies Nail dystrophy Abnormality of the skin Nail dysplasia Delayed eruption of teeth Iris coloboma Dry skin Congenital cataract Finger syndactyly Generalized hypotonia Microtia Sparse hair Camptodactyly Hyperhidrosis Abnormality of the dentition Depressed nasal bridge Cataract Abnormal vertebral segmentation and fusion Arrhinencephaly Fine hair Non-midline cleft lip Abnormal sacrum morphology Bilateral renal agenesis Abnormality of female internal genitalia Vaginal atresia Bicornuate uterus Breech presentation Tracheoesophageal fistula Urogenital fistula Abnormality of the genitourinary system Abnormal intestine morphology Primary amenorrhea Falls Congenital posterior urethral valve Ureteropelvic junction obstruction Hydroureter Nonketotic hypoglycemia Potter facies Maternal diabetes Arnold-Chiari malformation Abnormality of the ureter Bowel incontinence Decreased muscle mass Ectopic kidney Impulsivity Abnormality of pelvic girdle bone morphology Reduced tendon reflexes Urethral obstruction Ambiguous genitalia Oral cleft Anal atresia Joint stiffness Fetal polyuria Bilateral renal dysplasia Sirenomelia Hypotelorism Recurrent urinary tract infections Abnormality of the skeletal system Sparse scalp hair Leukopenia Plagiocephaly Recurrent bacterial infections Lymphopenia Bronchiectasis Broad thumb Asthma Tented upper lip vermilion Single transverse palmar crease Neutropenia Joint laxity Hepatosplenomegaly Recurrent respiratory infections Pneumonia Cutis laxa Failure to thrive in infancy Thrombocytopenia Erythroid hypoplasia Fatigue Neoplasm Cor triatriatum Neonatal sepsis Intermittent thrombocytopenia Monocytosis Congenital neutropenia Long fingers Giant platelets Hypoplasia of the thymus Prominent superficial veins Varicose veins Premature loss of teeth Abnormality of lipid metabolism Iron deficiency anemia Patent ductus arteriosus Splenomegaly Hypohidrosis 2-3 toe syndactyly Short columella Palpebral edema Hypoplastic nipples Narrow nasal bridge Multiple lipomas Agenesis of permanent teeth Cupped ear Eyelid coloboma Abnormality of the thorax Abnormality of the urinary system Cutaneous syndactyly Abnormality of the fingernails Type I diabetes mellitus Abnormality of the nail Abnormality of the hair Abnormality of the antihelix Abnormality of the endocrine system Respiratory distress Underdeveloped antitragus Hepatomegaly High palate Muscle weakness Failure to thrive Duplication of renal pelvis Abnormality of the scalp 3-4 finger cutaneous syndactyly Aplasia/Hypoplasia of the nipples Underdeveloped tragus Bilateral camptodactyly Hypoplastic helices Breast aplasia Small earlobe Pyelonephritis Absent nipple Renal cortical atrophy


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