Urofacial Syndrome malady

Wikipedia: Ochoa syndrome, also called urofacial syndrome or hydronephrosis with peculiar facial expression, is an...⁴⁴ more...

MalaCards: Urofacial Syndrome, also known as ochoa syndrome, is related to alzheimer's disease and ochoa syndrome. An important gene associated with Urofacial Syndrome is HPSE2 (heparanase 2).

Genetics Home Reference: Ochoa syndrome is a disorder characterized by urinary problems and unusual facial expressions.¹⁷

OMIM: 236730

urofacial syndrome 7 33 ochoa syndrome 43

Diseases related to urofacial syndrome by text searches and GeneDecks gene sharing:

id	Related Disease	Score	Top Affiliating Genes
1	alzheimer's disease	12.1	CNNM1, HPSE2
2	ochoa syndrome	7.9

Clinical features from OMIM: 236730

Approved drugs:

Drug clinical trials:

Articles related to urofacial syndrome:

id	Title	Authors	Year	Affiliating Genes
1	Exome capture and massively parallel sequencing identifies a novel HPSE2 mutation in a Saudi Arabian child with Ochoa (urofacial) syndrome. (21450525)	Al Badr W.... Innis J.W.	2011	HPSE2
2	Loss-of-function mutations in HPSE2 cause the autosom al recessive urofacial syndrome. (20560209)	Pang J.... Wang C.Y.	2010	HPSE2
3	Loss-of-Function Mutations in HPSE2 Cause the Autosom al Recessive Urofacial Syndrome. (20605132)	Pang J.... Wang C.Y.	2010	HPSE2
4	Mutations in HPSE2 cause urofacial syndrome. (20560210)	Daly S.B.... Newman W.G.	2010	HPSE2
5	High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical region. (12707951)	Wang C.-Y.... She J.-X.	2003	CNNM1

Genes related to urofacial syndrome according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	HPSE2	heparanase 2	11.1	Publications, Aliases & Descriptions
2	CNNM1	cyclin M1	11.0	Publications