ORPHA:1475

Renal coloboma syndrome

Synonyms: Coloboma of optic nerve with renal disease · Papillo-renal syndrome

A genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Renal coloboma syndrome	Coloboma of optic nerve with renal disease · Papillo-renal syndrome
fr	Syndrome rein-colobome	Syndrome de colobome du nerf optique-néphropathie · Syndrome papillo-rénal
de	Renales-Kolobom-Syndrom	Kolobome des Sehnervs - Nierenkrankheit · Nieren-Kolobom-Syndrom · Papillo-renales Syndrom
es	Síndrome renal-coloboma	Coloboma del nervio óptico con enfermedad renal · Síndrome papilo-renal
it	Sindrome reni-coloboma	Coloboma del nervo ottico con malattia renale · Sindrome papillo-renale
nl	Renaal coloboom-syndroom	Coloboom van oogzenuw met nierziekte · Papillorenaal syndroom
pt	Síndrome rim coloboma	Coloboma do nervo ótico com nefropatia
pl	Zespół rozszczepu narządu wzroku i wady nerek	Szczelina nerwu wzrokowego z chorobą nerek · Zespół brodawkowo-nerkowy
cs	Renální-kolobomální syndrom	Kolobom optického nervu s poruchou ledvin · Papilorenální syndrom
uk	Синдром ниркової колобоми	Колобома зорового нерва з нирковою недостатністю · Папіло-ренальний синдром
zh	肾-眼底缺损综合征	视神经缺损伴肾脏疾病
tr	Renal kolobom sendromu	Papillo-renal sendrom · Böbrek hastalığı ile seyreden optik sinir kolobomu

Definition in:

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	120330	E		validated
ICD-10	Q60.4	NTBT	attributed	validated
ICD-11	LA13.7Y	NTBT	index	validated
MONDO	0007352	E		validated
MeSH	C537168	E		validated
UMLS	C1852759	E		validated
GARD	4106	E		validated
MedDRA	10090293	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (2):

ORPHA:519345Rare disorder with optic disc malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
PAX2	Disease-causing germline mutation(s) in	Assessed	HGNC:8616	ENSG00000075891	167409	10q24.31	paired box 2	22213154[PMID]_20301624[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		180 cases	Worldwide	Case(s)	Validated	22213154[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

14 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0001093	Optic nerve dysplasia
HP:0000083	Renal insufficiency
Frequent (79-30%)
HP:0000003	Multicystic kidney dysplasia
HP:0000545	Myopia
HP:0000110	Renal dysplasia
HP:0000089	Renal hypoplasia
HP:0000076	Vesicoureteral reflux
HP:0000505	Visual impairment
Occasional (29-5%)
HP:0000365	Hearing impairment
HP:0001382	Joint hypermobility
HP:0000639	Nystagmus
HP:0000588	Optic disc coloboma
HP:0000480	Retinal coloboma
HP:0000486	Strabismus