Papillorenal syndrome

Preferred Label : Papillorenal syndrome;

Symbol : PAPRS;

CISMeF acronym : PAPRS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Coloboma of optic nerve with renal disease; Renal-coloboma syndrome with macular abnormalities; Renal-coloboma syndrome; Cakut with or without ocular abnormalities; Congenital anomalies of the kidney and urinary tract with or without ocular abnormalities; Optic nerve coloboma with renal disease; Optic coloboma, vesicoureteral reflux, and renal anomalies;

Description : Papillorenal syndrome is an autosomal dominant disorder characterized by both ocular and renal anomalies, but may also include vesicoureteral reflux, high frequency hearing loss, central nervous system anomalies, and/or genital anomalies, consistent with the expression of PAX2 in these tissues during development (summary by Eccles and Schimmenti, 1999). Parsa et al. (2002) noted that the dysplastic discs seen in papillorenal syndrome are not true colobomas: defective angiogenesis, rather than abnormal fissure closure, underlies the anomalous disc morphology as well as the retinal and choroidal hypoplasia with corresponding visual field defects. Affected individuals show multiple cilioretinal vessels and a variable attenuation or absence of the central retinal vessels. Alterations in vascular development also explain observed abnormalities of the renal cortex, the second most perfused tissue per gram of weight in the human body (after the choroid). Eye anomalies in this disorder consist of a wide and sometimes excavated dysplastic optic disc with the emergence of the retinal vessels from the periphery of the disc, designated optic nerve 'coloboma' or 'morning glory' anomaly. Associated findings may include a small corneal diameter, retinal coloboma, scleral staphyloma, optic nerve cyst, microphthalmia, and pigmentary macular dysplasia. The kidneys are small and abnormally formed (renal hypodysplasia), and have fewer than the normal number of glomeruli, which are enlarged (oligomeganephronia). These ocular and renal anomalies result in decreased visual acuity and retinal detachment, as well as hypertension, proteinuria, and renal insufficiency that frequently progresses to end-stage renal disease (summary by Schimmenti, 2011).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the paired box homeotic gene 2 (PAX2, 167409.0001);

Laboratory abnormalities : Proteinuria;

Prefixed ID : #120330;

Details

Origin ID

120330;

UMLS CUI

C1852759;

Automatic exact mappings (from CISMeF team)
- PAX2 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Papillorenal syndrome [ICD-11 More detail]
- Papillorenal syndrome [MeSH concept]
- Renal Coloboma Syndrome [NCIt concept]
- Renal coloboma syndrome [PASCAL descriptor]
- Renal coloboma syndrome [ORDO Disease]
- Renal coloboma syndrome (disorder) [SNOMED CT concept]
- papillorenal syndrome [Disease (Nov.)]
- papillorenal syndrome [MeSH Supplementary Concept]
- renal coloboma syndrome [DO Concept]
DO Cross reference
- renal coloboma syndrome [DO Concept]
Genes related to phenotype
- Paired box gene 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cataract [HPO term]
- Chiari type I malformation [HPO term]
- Chorioretinal atrophy [HPO term]
- Edema [HPO term]
- Epilepsy [HPO term]
- Gliosis [HPO term]
- Horseshoe kidney [HPO term]
- Hyperextensible skin [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Joint laxity [HPO term]
- Lens luxation [HPO term]
- Macular degeneration [HPO term]
- Macular hyperpigmentation [HPO term]
- Microphthalmia [HPO term]
- Morning glory anomaly [HPO term]
- Multicystic kidney dysplasia [HPO term]
- Nephrolithiasis [HPO term]
- Optic disc coloboma [HPO term]
- Orbital cyst [HPO term]
- Proteinuria [HPO term]
- Renal cyst [HPO term]
- Renal hypoplasia [HPO term]
- Renal malrotation [HPO term]
- Retinal coloboma [HPO term]
- Retinal detachment [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Soft skin [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Vesicoureteral reflux [HPO term]
ORDO concept(s)
- Renal coloboma syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Papillorenal syndrome [MeSH concept]
- Renal Coloboma Syndrome [NCIt concept]
- Renal coloboma syndrome [ORDO Disease]
- Renal coloboma syndrome [PASCAL descriptor]
- Renal coloboma syndrome [MedDRA Preferred Term]
- Renal coloboma syndrome (disorder) [SNOMED CT concept]
- papillorenal syndrome [MeSH Supplementary Concept]
- papillorenal syndrome [Disease (Nov.)]
- renal coloboma syndrome [DO Concept]

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