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Center for Nephrology and Metabolic Disorders
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Papillorenal syndrome

Papillorenal syndrome is an autosomal dominant disorder caused by mutations of the PAX2 gene. It is characterized by ocular (coloboma) and renal (hypoplasia) malformations. Typical features also include esicoureteral reflux, high frequency hearing loss, central nervous system anomalies, and genital malformations.


Congenital abnormalities of the kidney and urinary tract
Acro-renal-ocular syndrome
Aplasia of lacrimal and salivary glands
Autosomal dominant Robinow syndrome 1
Autosomal recessive Robinow syndrome
BNAR syndrome
Brain malformations with urinary tract defects
Branchio-oculo-facial syndrome
Branchiootic syndrome
Branchiootorenal dysplasia
CHARGE syndrome
Congenital anomalies of kidney and urinary tract 1
Congenital anomalies of kidney and urinary tract 2
Congenital hypogonadotropic hypogonadism with anosmia 1
Congenital hypogonadotropic hypogonadism without anosmia 5
Denys-Drash syndrome
Fraser syndrome
Frasier syndrome
Goldberg-Shprintzen syndrome
IVIC syndrome
Ivemark syndrome
Kabuki syndrome
Lacrimoauriculodentodigital syndrome
Mowat-Wilson syndrome
Papillorenal syndrome
Renal cysts and diabetes (RCAD)
Renal dysplasia with hypopituitarism and diabetes
Renal hypodysplasia/aplasia
Renal tubular dysgenesis
SERKAL syndrome
Simpson-Golabi-Behmel syndrome
Smith-Lemli-Opitz syndrome
Somatic nephroblastoma
Susceptibility to cystic renal dysplasia
Syndromic microphthalmia 6
Urofacial syndrome
Vesicoureteral reflux
WAGR syndrome



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Sanyanusin P et al. (1995) Mutation of PAX2 in two siblings with renal-coloboma syndrome.

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Naito T et al. (1989) Nature of renal involvement in the acro-renal-ocular syndrome.

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Sanyanusin P et al. (1995) Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

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Weaver RG et al. (1988) Optic nerve coloboma associated with renal disease.

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Bower M et al. (2012) Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

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Martinovic-Bouriel J et al. (2010) PAX2 mutations in fetal renal hypodysplasia.

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Higashide T et al. (2005) Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation.

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Chung GW et al. (2001) Renal-coloboma syndrome: report of a novel PAX2 gene mutation.

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Nishimoto K et al. (2001) PAX2 gene mutation in a family with isolated renal hypoplasia.

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Ford B et al. (2001) Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family.

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Amiel J et al. (2000) PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism.

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Schimmenti LA et al. (1999) Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.

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Update: Aug. 14, 2020
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