Ochoa Syndrome malady

NIH Rare Diseases: Ochoa syndrome is a condition characterized by unusual facial expressions and urinary problems. Affected individuals have a characteristic frown-like facial expression when they try to smile or laugh, often described as "inversion" of facial expression; this may appear as early as an infant begins to smile. The urinary problems associated with the condition, which typically become apparent in early childhood or adolescence, may include incontinence, inability to completely empty the bladder, urinary tract infections, hydronephrosis, and eventual kidney failure. Other signs and symptoms may include constipation, loss of bowel control and/or muscle spasms of the anus. The syndrome can be caused by mutations in the HPSE2 gene and is inherited in a autosomal recessive manner. Treatment, which may involve bladder re-education, prophylactic antibiotics, anticholinergic therapy (to decrease bladder hyperactivity), and alpha-blockers, is important in the prevention of upper urinary tract deterioration and renal failure.³⁰

MalaCards: Ochoa Syndrome, also known as partial facial palsy with urinary abnormalities, is related to thrombocytopenia and lipodystrophy. An important gene associated with Ochoa Syndrome is GOT1 (glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)), and among its related pathways is Metabolic pathways. Affiliated tissues include kidney and prostate.

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

MedlinePlus: Your kidneys form urine by filtering wastes and extra water from the bloodstream. the waste is called urea. it is carried in the bloodstream to the kidneys. from the kidneys, urine travels down two thin tubes called ureters to the bladder. the bladder stores urine until you are ready to go to the bathroom. it swells into a round shape when it is full and gets smaller when empty. if your urinary system is healthy, your bladder can hold up to 16 ounces (2 cups) of urine comfortably for 2 to 5 hours. you may have problems with urination if you have kidney failure urinary tract infections prostate enlargement bladder control problems like incontinence or interstitial cystitis a blockage that prevents you from emptying your bladder some conditions may also cause you to have blood or protein to be in your urine. if you have a urinary problem, see your healthcare provider. treatment depends on the cause. nih: national institute of diabetes and digestive and kidney diseases²³

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

ochoa syndrome 30 17 43 partial facial palsy with urinary abnormalities 30 17 hydronephrosis with peculiar facial expression 30 17 inverted smile and occult neuropathic bladder 30 17 urofacial ochoa's syndrome 30 17 urine and urination 17 23 urofacial syndrome 30 17

ufs 30 17 inverted smile-neurogenic bladder 17 hydronephrosis-inverted smile 17 chromosome inversion 43 hydronephrosis 43 partialism 43

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

(show top 50)    (show all 726)

id	Related Disease	Score	Top Affiliating Genes
1	thrombocytopenia	25.9	GOT1, HPSE2
2	lipodystrophy	9.4
3	hydronephrosis	9.2
4	familial partial lipodystrophy	8.8
5	carcinoma	8.0
6	urofacial syndrome	7.9
7	androgen insensitivity syndrome	7.9
8	hepatitis	7.8
9	seizures	7.8
10	insulin resistance	7.7
11	neuronitis	7.6
12	leukemia	7.6
13	autosomal dominant partial epilepsy with auditory features	7.4
14	myeloid leukemia	7.3
15	acute promyelocytic leukemia	7.2
16	fibrosis	7.2
17	acute myeloid leukemia	7.1
18	breast cancer	7.1
19	cystic fibrosis	7.1
20	prostatitis	7.0
21	cholesterol	7.0
22	muscular dystrophy	6.8
23	pancreatitis	6.8
24	hydronephrosis peculiar facial expression	6.7
25	androgen insensitivity syndrome, partial	6.7
26	immunodeficiency	6.7
27	thyroiditis	6.7
28	biotinidase deficiency	6.6
29	hepatocellular carcinoma	6.6
30	lipodystrophy, familial partial, type 2	6.6
31	melanoma	6.6
32	obesity	6.6
33	sepsis	6.6
34	thromboembolism	6.6
35	infertility	6.4
36	myocardial infarction	6.4
37	short stature	6.4
38	alcoholism	6.4
39	alzheimer's disease	6.4
40	complex partial epilepsy	6.4
41	anorexia nervosa	6.3
42	cardiomyopathy	6.3
43	diabetes mellitus	6.3
44	hypertension	6.3
45	prostate cancer	6.3
46	partial arterial retinal occlusion	6.3
47	partial deletion of y	6.3
48	schizophrenia	6.3
49	thrombosis	6.3
50	venous thromboembolism	6.3

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to ochoa syndrome:

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Articles related to ochoa syndrome:

id	Title	Authors	Year	Affiliating Genes
1	Genetic homogeneity, high-resolution mapping, and mutation analysis of the urofacial (Ochoa) syndrome and exclusion of the glutamate oxaloacetate transaminase gene (GOT1) in the critical region as the disease gene. (10360399)	Wang C.Y.... She J.X.	1999	GOT1, HPSE2
2	Construction of a physical and transcript map for a 1-Mb genomic region containing the urofacial (Ochoa) syndrome gene on 10q23-q24 and localization of the disease gene within two overlapping BAC clones (<360 kb). (10458906)	Wang C.Y.... She J.X.	1999	HPSE2
3	Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24. (9199567)	Wang C.Y.... She J.X.	1997	HPSE2

Genes related to ochoa syndrome according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	GOT1	glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)	11.0	Publications
2	HPSE2	heparanase 2	11.0	Publications

Pathways related to ochoa syndrome according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Metabolic pathways20	9.1	GOT1, HPSE2

Biological processes related to ochoa syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	small molecule metabolic process	GO:044281	9.1	GOT1, HPSE2
2	carbohydrate metabolic process	GO:005975	8.8	GOT1, HPSE2