Cryptorchidism, and Vesicoureteral reflux

Diseases related with Cryptorchidism and Vesicoureteral reflux

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


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High 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

High match EXSTROPHY OF BLADDER


Bladder exstrophy and epispadias complex (BEEC) is an anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia (Gearhart and Jeffs, 1998). BEEC is one of the most severe urologic birth defects because of its profound impact on continence, sexual function, and morbidity due to the effect of chronic and recurrent infections on renal function. The term 'exstrophy,' derived from the Greek work ekstriphein, which literally means 'turn inside out,' was first used by Chaussier in 1780.Martinez-Frias et al. (2001) emphasized that exstrophy of the cloaca and exstrophy of the bladder are 2 different expressions of a primary developmental field defect. Cloacal exstrophy is a feature of the OEIS (omphalocele-exstrophy-imperforate anus-spinal defects) complex (OMIM ). Exstrophy of the cloaca includes the persistence and exstrophy of a common cloaca that receives ureters, ileum, and a rudimentary hindgut and is associated with failure of fusion of the genital tubercles and pubic rami, incomplete development of the lumbosacral vertebrae with spinal dysraphism, imperforate anus, cryptorchidism and epispadias in males and anomalies of the mullerian duct derivatives in females, and a wide range of urinary tract anomalies. Omphalocele is common, and most patients have a single umbilical artery.

Related symptoms:

  • Cryptorchidism
  • Recurrent infections
  • Inguinal hernia
  • Umbilical hernia
  • Anal atresia


SOURCES: OMIM ORPHANET MENDELIAN

More info about EXSTROPHY OF BLADDER

High match UROFACIAL SYNDROME 1; UFS1


The urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by a severe and early-onset form of dysfunctional urinary voiding. Affected individuals usually present prenatally or in early childhood with grossly distorted renal tracts, comprising dysmorphic bladders and dilatation of the ureter and renal pelvis. They are at high risk of vesicoureteral reflux (VUR), with ascending bacterial infection leading to kidney damage, hypertension, and renal failure. One-third of UFS children also experience constipation or fecal soiling, suggesting that the pathophysiology of the syndrome encompasses a broader functional impairment of elimination. In addition, affected individuals have a characteristic facial grimace when trying to smile (summary by Daly et al., 2010). Genetic Heterogeneity of Urofacial SyndromeUrofacial syndrome-2 (UFS2 ) is caused by mutation in the LRIG2 gene (OMIM ) on chromosome 1p13.

UROFACIAL SYNDROME 1; UFS1 Is also known as facial palsy, partial, with urinary abnormalities|ochoa syndrome|hydronephrosis with peculiar facial expression|urofacial syndrome|inverted smile and occult neuropathic bladder|ufs

Related symptoms:

  • Abnormal facial shape
  • Pain
  • Cryptorchidism
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about UROFACIAL SYNDROME 1; UFS1

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High match CONGENITAL ALVEOLAR CAPILLARY DYSPLASIA


Congenital alveolar capillary dysplasia (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.

CONGENITAL ALVEOLAR CAPILLARY DYSPLASIA Is also known as alveolar capillary dysplasia with misalignment of pulmonary vessels|acdmpv|alveolar capillary dysplasia with misalignment of pulmonary veins|alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies

Related symptoms:

  • Cryptorchidism
  • Hypertension
  • Ventricular septal defect
  • Respiratory distress
  • Atrial septal defect


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL ALVEOLAR CAPILLARY DYSPLASIA

High match WEBB-DATTANI SYNDROME; WEDAS


Webb-Dattani syndrome is an autosomal recessive disorder characterized by frontotemporal hypoplasia, globally delayed development, and pituitary and hypothalamic insufficiency due to hypoplastic development of these brain regions. Patients present soon after birth with multiple pituitary hormonal deficiencies and subsequently develop microcephaly, seizures, and spasticity. Other features include postretinal blindness and renal abnormalities (summary by Webb et al., 2013).

WEBB-DATTANI SYNDROME; WEDAS Is also known as hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about WEBB-DATTANI SYNDROME; WEDAS

High match HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2


Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'Although HH was initially considered to be a monogenic disorder, the presence of marked locus heterogeneity, incomplete penetrance within pedigrees, and variable expressivity of pathogenic alleles, together with evidence for mutations in multiple genes in some affected individuals, resulted in a conceptual shift from monogenicity to an oligogenic framework in which a limited number of genes contribute pathogenic alleles to the genetic network responsible for the neuroendocrine control of human reproduction (Sykiotis et al., 2010). Genetic Heterogeneity of Hypogonadotropic Hypogonadism with or without AnosmiaOther forms of autosomal hypogonadotropic hypogonadism with or without anosmia include HH3 (OMIM ), caused by mutation in the PROKR2 gene (OMIM ); HH4 (OMIM ), caused by mutation in the PROK2 gene (OMIM ); HH5 (OMIM ), caused by mutation in the CHD7 gene (OMIM ); HH6 (OMIM ), caused by mutation in the FGF8 gene (OMIM ); HH7 (OMIM ), caused by mutation in the GNRHR gene (OMIM ); HH8 (OMIM ), caused by mutation in the KISS1R gene (OMIM ); HH9 (OMIM ), caused by mutation in the NELF gene (OMIM ); HH10 (OMIM ), caused by mutation in the TAC3 gene (OMIM ); HH11 (OMIM ), caused by mutation in the TACR3 gene (OMIM ); HH12 (OMIM ), caused by mutation in the GNRH1 gene (OMIM ); HH13 (OMIM ), caused by mutation in the KISS1 gene (OMIM ); HH14 (OMIM ), caused by mutation in the WDR11 gene (OMIM ); HH15 (OMIM ), caused by mutation in the HS6ST1 gene (OMIM ); HH16 (OMIM ), caused by mutation in the SEMA3A gene (OMIM ); HH17 (OMIM ), caused by mutation in the SPRY4 gene (OMIM ); HH18 (OMIM ), caused by mutation in the IL17RD gene (OMIM ); HH19 (OMIM ), caused by mutation in the DUSP6 gene (OMIM ); HH20 (OMIM ), caused by mutation in the FGF17 gene (OMIM ); HH21 (OMIM ), caused by mutation in the FLRT3 gene (OMIM ); HH22 (OMIM ), caused by mutation in the FEZF1 gene (OMIM ); HH23 (OMIM ), caused by mutation in the LHB gene (OMIM ); and HH24 (OMIM ), caused by mutation in the FSHB gene (OMIM ).There is also an X-linked form of the disorder (HH1 ), caused by mutation in the KAL1 gene (OMIM ).There is evidence that mutation in 2 or more of these genes can work in combination (oligogenicity) to produce GnRH-deficient conditions (summary by Chan, 2011). Sykiotis et al. (2010), for example, demonstrated that of patients with an identifiable coding sequence mutation in 1 of 8 genes responsible for isolated GnRH deficiency, 11% carried mutations in at least one other of these genes as well.To assess oligogenicity in hypogonadotropic hypogonadism, Miraoui et al. (2013) analyzed 350 HH probands of European descent for mutation in 17 HH-associated genes. Mutations were identified in 124 (35%) of the probands, and 24 (19%) of the mutation-positive probands carried at least 2 mutant alleles from different genes. Miraoui et al. (2013) noted that 23 of the 24 oligogenic cases involved at least 1 gene associated with the fibroblast growth factor (FGF) network (see {601513}).Dode et al. (2006) stated that loss-of-function mutations in the KAL1 (OMIM ) and FGFR1 genes account for approximately 20% of all cases of Kallmann syndrome and that mutations in the PROKR2 and PROK2 genes account for an additional 10%.Gurbuz et al. (2012) reviewed all causative mutations detected in multiplex families with normosmic hypogonadotropic hypogonadism over a 7-year period in Turkey. Mutations that segregated with disease were identified in 17 (77.2%) of 22 families studied, including mutations of the GNRHR gene in 7 (31.8%) of the families, TACR3 in 6 (27.2%), KISSR in 2 (9%), TAC3 in 1 (4.5%), and KISS1 in 1 (4.5%). Inheritance was autosomal recessive in all 17 families.Valdes-Socin et al. (2014) reviewed the reproductive, neurodevelopmental, and genetic aspects of hypogonadotropic hypogonadism in human pathology.

HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2 Is also known as kallmann syndrome 2|kal2

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA; HH2

High match BRESEK SYNDROME


X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).

BRESEK SYNDROME Is also known as bresheck syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: MESH ORPHANET MENDELIAN

More info about BRESEK SYNDROME

High match COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME


COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME Is also known as chops syndrome|cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME

High match CAUDAL REGRESSION SEQUENCE


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

High match NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH


Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart is an autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. About half of patients have additional abnormalities, most commonly involving the eye, heart, and genitourinary system. The phenotype is reminiscent of that observed in patients with 1p36 deletion syndrome (OMIM ); RERE is located in the proximal 1p36 critical region (summary by Fregeau et al., 2016).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH

Top 5 symptoms//phenotypes associated to Cryptorchidism and Vesicoureteral reflux

Symptoms // Phenotype % cases
Hypertension Uncommon - Between 30% and 50% cases
Hydronephrosis Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Anal atresia Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cryptorchidism and Vesicoureteral reflux. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Gastroesophageal reflux Growth delay Hydroureter Short stature Recurrent urinary tract infections Renal insufficiency Bowel incontinence

Rare Symptoms - Less than 30% cases


Renal agenesis Low-set ears Hypoplasia of the corpus callosum Constipation Urinary incontinence Scoliosis Patent ductus arteriosus Intrauterine growth retardation Abnormality of cardiovascular system morphology Microphthalmia Neurogenic bladder Ventricular septal defect Microcephaly Polydipsia Cleft palate Abnormal facial shape Aganglionic megacolon Abnormal vertebral morphology Iris coloboma Intestinal malrotation Oral cleft Ectrodactyly Horseshoe kidney Abnormality of pelvic girdle bone morphology Unilateral renal agenesis Urethral obstruction Coloboma Single umbilical artery Optic atrophy Renal dysplasia Hemivertebrae Plagiocephaly Optic nerve hypoplasia Renal hypoplasia Abnormality of the skeletal system Brachydactyly Cognitive impairment Abnormality of brain morphology Hypoplasia of the bladder Cataract Hypertelorism Postaxial hand polydactyly Hydrocephalus Decreased testicular size Thromboembolism Myocardial infarction Primary amenorrhea Choanal atresia Gynecomastia Hypogonadotrophic hypogonadism Holoprosencephaly Anosmia Reduced number of teeth Hypopituitarism Hyposmia Convex nasal ridge Gonadotropin deficiency Prostate cancer Microphallus Bimanual synkinesia Obesity Intellectual disability, severe Alopecia Protruding ear Hypotrichosis Ichthyosis Short nose Inguinal hernia Pneumonia Frontal bossing Abnormal vertebral segmentation and fusion Aplasia/Hypoplasia of the sacrum Abnormality of the wing of the ilium Generalized hypotonia Micrognathia Strabismus Feeding difficulties Visual impairment Epicanthus Dysarthria Downslanted palpebral fissures Ventriculomegaly Arrhinencephaly Anteverted nares Behavioral abnormality Hypospadias Abnormal heart morphology Posteriorly rotated ears Autism Low-set, posteriorly rotated ears Postnatal growth retardation Autistic behavior Blepharophimosis Cerebellar vermis hypoplasia Cerebral visual impairment Hypoplastic vertebral bodies Ureteral duplication Proptosis Chronic lung disease Coarse facial features Abnormal cardiac septum morphology Thick eyebrow Coarctation of aorta Round face Abnormal lung morphology Long eyelashes Aspiration Laryngomalacia Aspiration pneumonia Tracheal stenosis Thick hair Maternal diabetes Recurrent aspiration pneumonia Talipes equinovarus Joint stiffness Pulmonary hypoplasia Ambiguous genitalia Reduced tendon reflexes Arnold-Chiari malformation Impulsivity Ectopic kidney Decreased muscle mass Abnormality of the ureter Missing ribs Downturned corners of mouth Clinodactyly Hypotelorism Enuresis nocturna Keratoconjunctivitis sicca Dysuria Enuresis Wolff-Parkinson-White syndrome Urinary retention Pyelonephritis Facial grimacing Urethral stenosis Mild proteinuria Urethral valve Polyuria Encopresis Abnormal facial expression Nocturnal lagophthalmos Respiratory distress Atrial septal defect Respiratory failure Polyhydramnios Apnea Cyanosis Tetralogy of Fallot Acute kidney injury Keratitis Aortic valve stenosis Exstrophy Recurrent infections Hypoplasia of penis Omphalocele Abnormality of the urinary system Anteriorly placed anus Epispadias Spinal dysraphism Macrothrombocytopenia Bladder exstrophy Abnormality of the anus Abnormality of the clitoris Clubbing Cloacal exstrophy Bifid clitoris Pain Fever Dilatation Proteinuria Stage 5 chronic kidney disease Nephropathy Hematuria Sepsis Pulmonary arterial hypertension Bicuspid aortic valve Amenorrhea Hypernatremia Deeply set eye Hip dislocation Severe global developmental delay Delayed myelination Growth hormone deficiency Postnatal microcephaly Cerebral palsy Diabetes insipidus Pituitary hypothyroidism Central hypothyroidism Neoplasm Retrognathia Sensorineural hearing impairment Umbilical hernia Agenesis of corpus callosum Hypogonadism Micropenis Osteopenia Abnormality of the nervous system Cleft lip Delayed puberty Cleft upper lip Hypoglycemia Hypothyroidism Tracheoesophageal fistula Duodenal stenosis Bilateral cryptorchidism Hypoplastic left heart Atrioventricular canal defect Abnormal lung lobation Asplenia Duodenal atresia Volvulus Hypoxemia Pulmonary insufficiency Ureteropelvic junction obstruction Accessory spleen Prominent forehead Meckel diverticulum Absent gallbladder Annular pancreas Right-to-left shunt Pulmonary valve atresia Abnormality of the pulmonary vasculature Abnormality of the pulmonary veins Seizures Spasticity Blindness Broad eyebrow



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