Papillorenal syndrome

Papillorenal syndrome is an autosomal dominant[2] genetic disorder marked by underdevelopment (hypoplasia) of the kidney and colobomas of the optic nerve.[4] A coloboma is the failure to close the choroid fissure, which is the opening from the ventral side of the retina in the optic stalk.[5] Despite the similarities with coloboma and morning glory anomaly, significant differences exist such that optic disc dysplasia cannot be classified as either one entity.[9] The missense mutations appear to disrupt hydrogen bonds, leading to decreased transactivation of Pax2, but do not seem to effect nuclear localization, steady state mRNA levels, or the ability of Pax2 to bind to its DNA consensus sequence.[7] Papillorenal syndrome is an autosomal dominant disorder that results from a mutation of one copy of the Pax2 gene, located on chromosome 10q24.3-q25.1.

renal hypoplasiainheritanceSpecialtyMedical geneticsautosomaldominantgenetic disorderkidneycolobomasoptic nervemorning glory disc anomalycolobomaretinaend-stage renal diseasehypoplastic kidneysnephronhypertrophyhydrogen bondsHomozygousoptic cupzebrafishPax2 genechromosome10q24.3-q25.1autosomeChronic kidney diseasegenetic testingpreimplantation genetic diagnosisOnline Mendelian Inheritance in ManDiseasesDBRare DiseasesCongenitalmalformations and deformationsurinary systemRenal agenesisPotter sequencecysticPolycystic kidney diseaseMeckel syndromeMulticystic dysplastic kidneyMedullary sponge kidneyHorseshoe kidneyRenal ectopiaNephronophthisisSupernumerary kidneyPelvic kidneyDent's diseaseAlport syndromeUreterEctopic ureterMegaureterDuplicated ureterBladderBladder exstrophyUrethraEpispadiasHypospadiasPosterior urethral valvesPenoscrotal transpositionPrune belly syndromeUrachusUrachal cystUrachal fistulaUrachal sinusGenetic disorderstranscription factorFeingold syndromeSaethre–Chotzen syndromeTietz syndromeIntracellular receptorThyroid hormone resistanceAndrogen insensitivity syndromeKennedy's diseasePHA1AD pseudohypoaldosteronismEstrogen insensitivity syndromeX-linked adrenal hypoplasia congenitaMODY 1Familial partial lipodystrophy 3SF1 XY gonadal dysgenesisBarakat syndromeTricho–rhino–phalangeal syndromeGreig cephalopolysyndactyly syndromePallister–Hall syndromeDenys–Drash syndromeDuane-radial ray syndromeMODY 7MRX 89Townes–Brocks syndromeAcrocallosal syndromeMyotonic dystrophy 2Autoimmune polyendocrine syndrome type 1Ohtahara syndromeLissencephaly X2Currarino syndromeHOXD13SPD1 synpolydactylyMODY 4Nail–patella syndromeTooth and nail syndromeAxenfeld syndrome 1POU4F3DFNA15POU3F4Posterior polymorphous corneal dystrophyFuchs' dystrophy 3Mowat–Wilson syndromeWaardenburg syndrome 1&3MODY 9Gillespie syndromeColoboma of optic nerveCongenital hypothyroidism 2STHAG3Axenfeld syndrome 3Iridogoniodysgenesis, dominant typeLymphedema–distichiasis syndromeBamforth–Lazarus syndromeAnterior segment mesenchymal dysgenesisACD/MPVEnlarged vestibular aqueductPremature ovarian failure 3Van der Woude syndromePopliteal pterygium syndromeHyperimmunoglobulin E syndromeHolt–Oram syndromeLi–Fraumeni syndromeUlnar–mammary syndromeCampomelic dysplasiaMODY 3MODY 5SRY XY gonadal dysgenesisPremature ovarian failure 7Waardenburg syndrome 4cYemenite deaf-blind hypopigmentation syndromeCleidocranial dysostosisKabuki syndromePitt–Hopkins syndromeRapp–Hodgkin syndromeHay–Wells syndromeEctrodactyly–ectodermal dysplasia–cleft syndrome 3Limb–mammary syndromeTranscription coregulatorsCREBBPRubinstein–Taybi syndromeAtrichia with papular lesions