Abnormality of the skeletal system, and Vesicoureteral reflux

Low match VESICOURETERAL REFLUX 2; VUR2

• Nephropathy
• Vesicoureteral reflux
• Renal hypoplasia

SOURCES: OMIM MESH MENDELIAN

Low match VESICOURETERAL REFLUX 8; VUR8

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

SOURCES: OMIM MENDELIAN

Low match DEAFNESS, AUTOSOMAL DOMINANT 23; DFNA23

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

SOURCES: OMIM MESH MENDELIAN

Low match RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO; CYSRD

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

SOURCES: OMIM MESH MENDELIAN

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 ).

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

SOURCES: OMIM MENDELIAN

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 ).

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

SOURCES: ORPHANET OMIM MENDELIAN

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

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

SOURCES: OMIM MESH MENDELIAN

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

• Cryptorchidism
• Hypertension
• Renal insufficiency
• Constipation
• Hydronephrosis

SOURCES: ORPHANET MENDELIAN

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

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

SOURCES: ORPHANET MENDELIAN

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

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

SOURCES: ORPHANET MENDELIAN