Abnormality of the skeletal system, and Vesicoureteral reflux

Diseases related with Abnormality of the skeletal system and Vesicoureteral reflux

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Vesicoureteral reflux that can help you solving undiagnosed cases.


Top matches:

Low match VESICOURETERAL REFLUX 2; VUR2


Related symptoms:

  • Nephropathy
  • Vesicoureteral reflux
  • Renal hypoplasia


SOURCES: OMIM MESH MENDELIAN

More info about VESICOURETERAL REFLUX 2; VUR2

Low match VESICOURETERAL REFLUX 8; VUR8


Related symptoms:

  • Joint hypermobility
  • Vesicoureteral reflux
  • Recurrent urinary tract infections
  • Duplicated collecting system


SOURCES: OMIM MENDELIAN

More info about VESICOURETERAL REFLUX 8; VUR8

Low match DEAFNESS, AUTOSOMAL DOMINANT 23; DFNA23


Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Conductive hearing impairment
  • Vesicoureteral reflux
  • Preauricular pit


SOURCES: OMIM MESH MENDELIAN

More info about DEAFNESS, AUTOSOMAL DOMINANT 23; DFNA23

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Other less relevant matches:

Low match RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO; CYSRD


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

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

Low match RENAL HYPODYSPLASIA/APLASIA 3; RHDA3


RHDA3 is an autosomal dominant disorder characterized by abnormal kidney development beginning in utero. The phenotype is highly variable, even within families, and there is evidence for incomplete penetrance. Some affected individuals have bilateral renal agenesis, which is usually fatal in utero or in the perinatal period, whereas others may have unilateral agenesis that is compatible with life, or milder manifestations, such as vesicoureteral reflux (VUR). Female mutation carriers may also have uterine or ovarian abnormalities. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; see {610805}) (summary by Brophy et al., 2017 and Sanna-Cherchi et al., 2017).For a discussion of genetic heterogeneity of renal hypodysplasia/aplasia, see RHDA1 (OMIM ).

Related symptoms:

  • Hydronephrosis
  • Abnormality of the kidney
  • Falls
  • Vesicoureteral reflux
  • Renal agenesis


SOURCES: OMIM MENDELIAN

More info about RENAL HYPODYSPLASIA/APLASIA 3; RHDA3

Low match UROFACIAL SYNDROME 2; UFS2


Urofacial syndrome (UFS; Ochoa syndrome) is an autosomal recessive disorder characterized by congenital urinary bladder dysfunction associated with an abnormal facial expression upon smiling, laughing, and crying. Affected individuals have an overactive detrusor muscle that fails to fully expel urine because of concomitant internal sphincter contraction, and patients may experience lifelong urinary incontinence, recurrent urosepsis, vesicoureteral reflux, and renal failure. In addition, some patients have severe constipation, indicating a generalized elimination defect (summary by Stuart et al., 2013).For a discussion of genetic heterogeneity of UFS, see UFS1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Renal insufficiency
  • Constipation
  • Hydronephrosis
  • Vesicoureteral reflux


SOURCES: ORPHANET OMIM MENDELIAN

More info about UROFACIAL SYNDROME 2; UFS2

Low match CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1; CAKUT1


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

Low match OCHOA SYNDROME


Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression.

OCHOA SYNDROME Is also known as partial facial palsy with urinary abnormalities|inverted smile-neurogenic bladder syndrome|urofacial syndrome|hydronephrosis-inverted smile syndrome

Related symptoms:

  • Cryptorchidism
  • Hypertension
  • Renal insufficiency
  • Constipation
  • Hydronephrosis


SOURCES: ORPHANET MENDELIAN

More info about OCHOA SYNDROME

Low match BLADDER EXSTROPHY


Bladder exstrophy (or classic bladder exstrophy; CEB) is a congenital genitourinary malformation belonging to the spectrum of the exstrophy-epispadias complex (EEC; see this term) and is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall.

BLADDER EXSTROPHY Is also known as classic exstrophy of the bladder

Related symptoms:

  • Inguinal hernia
  • Umbilical hernia
  • Vesicoureteral reflux
  • Intestinal malrotation
  • Hypoplasia of penis


SOURCES: ORPHANET MENDELIAN

More info about BLADDER EXSTROPHY

Low match CURRARINO SYNDROME


Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae).

CURRARINO SYNDROME Is also known as currarino triad

Related symptoms:

  • Hypospadias
  • Vesicoureteral reflux
  • Hypoplasia of penis
  • Abnormal intestine morphology
  • Bifid scrotum


SOURCES: ORPHANET MENDELIAN

More info about CURRARINO SYNDROME

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Vesicoureteral reflux

Symptoms // Phenotype % cases
Recurrent urinary tract infections Uncommon - Between 30% and 50% cases
Hydronephrosis Uncommon - Between 30% and 50% cases
Renal insufficiency Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Renal dysplasia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Vesicoureteral reflux. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Hypoplasia of penis Renal agenesis Unilateral renal agenesis Bowel incontinence Urinary incontinence Constipation Hearing impairment Renal hypoplasia Multicystic kidney dysplasia Polydipsia Cryptorchidism Urethral obstruction Inguinal hernia Umbilical hernia Congenital posterior urethral valve Ureteropelvic junction obstruction Intestinal malrotation Epispadias Omphalocele Abnormality of the ureter Hypercalciuria Bladder exstrophy Abnormality of the anus Abnormality of the clitoris Hypospadias Abnormal intestine morphology Bifid scrotum Male pseudohermaphroditism Arteriovenous malformation Lower limb asymmetry Sacrococcygeal teratoma Hydroureter Nephropathy Oligohydramnios Falls Joint hypermobility Duplicated collecting system Sensorineural hearing impairment Conductive hearing impairment Preauricular pit Profound hearing impairment Pulmonary hypoplasia Renal cyst Cystic renal dysplasia Hyperechogenic kidneys Abnormality of the kidney Abnormality of the ribs Stage 5 chronic kidney disease Horseshoe kidney Abnormality of the genitourinary system Abnormality of the uterus Bilateral renal agenesis Bilateral renal dysplasia Unilateral renal dysplasia Neoplasm Nephroblastoma Urinary urgency Enuresis Abnormal facial expression Aplasia/Hypoplasia of the sacrum



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