Details of Disease

General Information of Disease (ID: DIS1MDEZ)

Disease Name Ochoa syndrome
Synonyms
urofacial Ochoa's syndrome; inverted smile and occult neuropathic bladder; UFS; urofacial syndrome; partial facial palsy with urinary abnormalities; inverted smile-neurogenic bladder syndrome; hydronephrosis-inverted smile syndrome; hydronephrosis with peculiar facial expression; Urofacial Syndrome; Ochoa syndrome
Definition Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression.
Disease Hierarchy
DISCPWH9: Autosomal recessive disease
DIS1MDEZ: Ochoa syndrome
Disease Identifiers
MONDO ID
MONDO_0000463
MESH ID
C536480
UMLS CUI
C0403555
OMIM ID
236730
MedGen ID
98015
Orphanet ID
2704
SNOMED CT ID
236533008

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
GOT1 TTU507L Limited Biomarker [1]
------------------------------------------------------------------------------------
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HPSE2 OTGEPP8V Supportive Autosomal recessive [2]
LRIG2 OTDUBLIH Supportive Autosomal recessive [3]
CNNM1 OTHRSSGH Strong Biomarker [1]
------------------------------------------------------------------------------------

References

1 High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical region.Am J Med Genet A. 2003 May 15;119A(1):9-14. doi: 10.1002/ajmg.a.20042.
2 Urofacial Syndrome. 2013 Aug 22 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
3 LRIG2 mutations cause urofacial syndrome. Am J Hum Genet. 2013 Feb 7;92(2):259-64. doi: 10.1016/j.ajhg.2012.12.002. Epub 2013 Jan 11.