Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

Systematic

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
BMP7
BNAR syndrome
Brain malformations with urinary tract defects
Branchio-oculo-facial syndrome
Branchiootic syndrome
Branchiootorenal dysplasia
CHARGE syndrome
CHD1L
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
PAX2
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

References:

1.

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

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2.

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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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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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12.

Schimmenti LA et al. (1995) Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.

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13.

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

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14.

Eccles MR et al. (1999) Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations.

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15.

Parsa CF et al. (2001) Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity.

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16.

None (2011) Renal coloboma syndrome.

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17.

Bron AJ et al. (1989) Papillo-renal syndrome. An inherited association of optic disc dysplasia and renal disease. Report and review of the literature.

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18.

None (1970) Morning glory syndrome: unusual congenital optic disk anomaly.

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19.

None (1979) [The morning glory syndrome].

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20.

None (1977) [On the clinical picture of Handmann's anomaly of the optic nerve Morning glory syndrome? (author's transl)].

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21.

Cunliffe HE et al. (1998) The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies.

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22.

OMIM.ORG article

Omim 120330 [^]
23.

Wikipedia article

Wikipedia EN (Papillorenal_syndrome) [^]
Update: April 29, 2019