Hearing impairment, and Vesicoureteral reflux

Diseases related with Hearing impairment and Vesicoureteral reflux

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

Top matches:

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

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

Other less relevant matches:

Neonatal sclerosing cholangitis is a rare autosomal recessive form of severe liver disease with onset in infancy. Affected infants have jaundice, cholestasis, acholic stools, and progressive liver dysfunction resulting in fibrosis and cirrhosis; most require liver transplantation in the first few decades of life. Cholangiography shows patent biliary ducts, but there are bile duct irregularities (summary by Girard et al., 2016; Grammatikopoulos et al., 2016).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertension
  • Hepatomegaly
  • Splenomegaly


SOURCES: OMIM MENDELIAN

More info about SCLEROSING CHOLANGITIS, NEONATAL; NSC

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

Medium 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

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

Pfeiffer syndrome type 3 (PS3) is a severe type of Pfeiffer syndrome (PS; see this term), characterized by bicoronal craniosynostosis, severe associated functional disorders, and hand, foot and elbow abnormalities.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about PFEIFFER SYNDROME TYPE 3

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

Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).

HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME Is also known as barakat syndrome|hdrs|nephrosis, nerve deafness, and hypoparathyroidism|hdr syndrome|hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME

Top 5 symptoms//phenotypes associated to Hearing impairment and Vesicoureteral reflux

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Renal dysplasia Uncommon - Between 30% and 50% cases
Cleft palate Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Hydronephrosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism Horseshoe kidney Seizures Global developmental delay Unilateral renal agenesis Multicystic kidney dysplasia Short stature Renal hypoplasia Hypertension Stage 5 chronic kidney disease Renal insufficiency

Rare Symptoms - Less than 30% cases

Hydrocephalus Microphthalmia Choanal atresia Hypertelorism Chronic kidney disease Cataract Iris coloboma Coloboma Short nose Abnormality of the kidney Low-set ears Proteinuria Proptosis Growth delay Nystagmus Ureteropelvic junction obstruction Renal agenesis Laryngomalacia Severe vision loss Broad hallux phalanx Hyperextensible skin Tracheomalacia High-frequency hearing impairment Nephritis Visual field defect Chorioretinal atrophy Arnold-Chiari type I malformation Short hallux Soft skin Aqueductal stenosis Multiple renal cysts Elevated serum creatinine Hydrocele testis Optic nerve coloboma Retinal coloboma Abnormality of the vasculature Myopia Abnormality of the genitourinary system Joint hyperflexibility Glaucoma Reduced visual acuity Joint laxity Arnold-Chiari malformation Visual impairment Strabismus Increased intracranial pressure Amblyopia Confusion Edema Nephropathy Stenosis of the external auditory canal Retinal detachment Gliosis Progressive visual loss Hallux varus Abnormality of the genital system Nephrolithiasis Macular degeneration Brachyturricephaly Orbital cyst Pyelonephritis Vaginal atresia Hyperkinesis Abnormality of the urinary system Polycystic ovaries Polycystic kidney dysplasia Psoriasiform dermatitis Progressive sensorineural hearing impairment Basal ganglia calcification Renal tubular acidosis Hypoparathyroidism Severe postnatal growth retardation Tetany Ovarian cyst Nephrocalcinosis Aplasia of the uterus Hypocalcemic seizures Uterus didelphys Distal renal tubular acidosis Proximal renal tubular acidosis Pseudopapilledema Septate vagina Thickening of the glomerular basement membrane Bilateral renal dysplasia Unilateral deafness Abnormality of T cell physiology Parathyroid hypoplasia Ischemic stroke Hypocalcemia Platybasia Muscle weakness Lens luxation Bilateral renal hypoplasia Mild proteinuria Optic nerve dysplasia Scleral staphyloma Renal malrotation Morning glory anomaly Intestinal malrotation Macular hyperpigmentation Recurrent pyelonephritis Ureterovesical junction obstruction Pain Horizontal nystagmus Ptosis Cardiomyopathy Abnormal heart morphology Rod-cone dystrophy Diabetes mellitus Acidosis Myalgia Stroke Hematuria Ectodermal dysplasia Bilateral sensorineural hearing impairment Nephrotic syndrome Broad thumb Tracheal stenosis Limitation of joint mobility Hypotelorism Agenesis of corpus callosum Hypogonadism Micropenis Osteopenia Abnormality of the nervous system Cleft lip Delayed puberty Cleft upper lip Oral cleft Amenorrhea Coarctation of aorta Abnormality of cardiovascular system morphology Myocardial infarction Primary amenorrhea Gynecomastia Hypogonadotrophic hypogonadism Holoprosencephaly Anosmia Reduced number of teeth Hypopituitarism Ectrodactyly Thromboembolism Clinodactyly Neoplasm Gonadotropin deficiency Elevated hepatic transaminase Conductive hearing impairment Preauricular pit Profound hearing impairment Oligohydramnios Hypercalciuria Hydroureter Congenital posterior urethral valve Hepatomegaly Splenomegaly Jaundice Abnormality of the liver Acholic stools Pruritus Cirrhosis Cholestasis Decreased liver function Shock Portal hypertension Biliary cirrhosis Cholangitis Ureteral duplication Sclerosing cholangitis Hyposmia Prostate cancer Short foot Chronic lung disease Coarse facial features Abnormal cardiac septum morphology Thick eyebrow Downturned corners of mouth Round face Abnormal lung morphology Long eyelashes Abnormal vertebral morphology Aspiration Aspiration pneumonia Thick hair Pneumonia Recurrent aspiration pneumonia High palate Depressed nasal bridge Respiratory distress Midface retrusion High forehead Finger syndactyly Toe syndactyly Anal atresia Small hand Gastroesophageal reflux Patent ductus arteriosus Microphallus Decreased testicular size Bimanual synkinesia Microcephaly Scoliosis Intrauterine growth retardation Intellectual disability, severe Alopecia Protruding ear Hypotrichosis Ichthyosis Convex nasal ridge Postaxial hand polydactyly Obesity Aganglionic megacolon Hemivertebrae Plagiocephaly Optic nerve hypoplasia Abnormality of brain morphology Hypoplasia of the bladder Abnormal facial shape Cognitive impairment Brachydactyly Optic atrophy Abnormality of the skeletal system Unilateral renal dysplasia


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