Details of Disease | DrugMAP

General Information of Disease (ID: DISDUYJH)

Disease Name	Urofacial syndrome type 1
Synonyms	Ochoa syndrome; urofacial syndrome 1; urofacial syndrome; hydronephrosis with peculiar Facial expression; UFS1; facial palsy, partial, with urinary abnormalities; inverted smile and occult neuropathic bladder; urofacial syndrome type 1
Disease Hierarchy	DIS1MDEZ: Ochoa syndrome DISDUYJH: Urofacial syndrome type 1

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LRIG2	OTDUBLIH	Strong	Autosomal recessive	[1]
HPSE2	OTGEPP8V	Definitive	Autosomal recessive	[2]
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References

1	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
2	Three new European cases of urofacial (Ochoa) syndrome. Clin Dysmorphol. 2001 Jul;10(3):165-70. doi: 10.1097/00019605-200107000-00002.