Details of Disease | DrugMAP

General Information of Disease (ID: DISXZ9F3)

Disease Name	Renal coloboma syndrome
Synonyms	renal-coloboma syndrome; optic coloboma, vesicoureteral reflux, and renal anomalies; optic nerve coloboma with renal disease; PAPRS; PAPILLORENAL syndrome; CAKUT with or without ocular abnormalities; congenital anomalies of the kidney and urinary tract with or without ocular abnormalities; coloboma of optic nerve with renal disease; papillo-renal syndrome, optic nerve coloboma with renal disease; papillorenal syndrome; renal-coloboma syndrome with macular abnormalities; Papillo-renal syndrome; optic coloboma, vesicoureteral reflux and renal anomalies
Definition	Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.
Disease Hierarchy	DIS6SVEE: Syndromic disease DIS3HIWD: Autosomal dominant disease DISXZ9F3: Renal coloboma syndrome
Disease Identifiers	MONDO ID MONDO_0007352 MESH ID C537168 UMLS CUI C1852759 OMIM ID 120330 MedGen ID 339002 Orphanet ID 1475 SNOMED CT ID 446449009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KIF26B	TTQWICZ	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PAX2	OTKP1N8F	Definitive	Autosomal dominant	[2]
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References

1	Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome.PLoS One. 2015 Nov 16;10(11):e0142843. doi: 10.1371/journal.pone.0142843. eCollection 2015.
2	Missense mutation and hexanucleotide duplication in the PAX2 gene in two unrelated families with renal-coloboma syndrome (MIM 120330). Hum Genet. 1998 Aug;103(2):149-53. doi: 10.1007/s004390050798.