MCID: URF002
MIFTS: 20

Urofacial Syndrome 2 malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Fetal diseases, Neuronal diseases

Aliases & Classifications for Urofacial Syndrome 2

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Aliases & Descriptions for Urofacial Syndrome 2:

Name: Urofacial Syndrome 2 52 70 27 12 68
 
Ufs2 70

Characteristics:

HPO:

64
urofacial syndrome 2:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 615112

Summaries for Urofacial Syndrome 2

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OMIM:52 Urofacial syndrome (UFS; Ochoa syndrome) is an autosomal recessive disorder characterized by congenital urinary bladder... (615112) more...

MalaCards based summary: Urofacial Syndrome 2, also known as ufs2, is related to lrig2-related urofacial syndrome and urofacial syndrome 1, and has symptoms including recurrent urinary tract infections, vesicoureteral reflux and renal insufficiency. An important gene associated with Urofacial Syndrome 2 is LRIG2 (Leucine Rich Repeats And Immunoglobulin Like Domains 2). Affiliated tissues include kidney.

UniProtKB/Swiss-Prot:70 Urofacial syndrome 2: A rare autosomal recessive disorder characterized by facial grimacing when attempting to smile and failure of the urinary bladder to void completely despite a lack of anatomical bladder outflow obstruction or overt neurological damage. Affected individuals often have reflux of infected urine from the bladder to the upper renal tract, with a risk of kidney damage and renal failure.

Related Diseases for Urofacial Syndrome 2

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Diseases in the Urofacial Syndrome 1 family:

urofacial syndrome 2 Hpse2-Related Urofacial Syndrome
Lrig2-Related Urofacial Syndrome

Diseases related to Urofacial Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1lrig2-related urofacial syndrome11.0
2urofacial syndrome 110.9

Symptoms & Phenotypes for Urofacial Syndrome 2

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Symptoms by clinical synopsis from OMIM:

615112

Clinical features from OMIM:

615112

Human phenotypes related to Urofacial Syndrome 2:

 64 (show all 6)
id Description HPO Frequency HPO Source Accession
1 recurrent urinary tract infections64 HP:0000010
2 vesicoureteral reflux64 HP:0000076
3 renal insufficiency64 HP:0000083
4 hydronephrosis64 HP:0000126
5 enuresis64 HP:0000805
6 constipation64 HP:0002019

UMLS symptoms related to Urofacial Syndrome 2:


constipation, enuresis

Drugs & Therapeutics for Urofacial Syndrome 2

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Urofacial Syndrome 2

Genetic Tests for Urofacial Syndrome 2

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Genetic tests related to Urofacial Syndrome 2:

id Genetic test Affiliating Genes
1 Urofacial Syndrome 227

Anatomical Context for Urofacial Syndrome 2

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MalaCards organs/tissues related to Urofacial Syndrome 2:

36
Kidney

Publications for Urofacial Syndrome 2

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Variations for Urofacial Syndrome 2

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Clinvar genetic disease variations for Urofacial Syndrome 2:

5
id Gene Variation Type Significance SNP ID Assembly Location
1LRIG2NM_014813.2(LRIG2): c.1230delA (p.Glu410Aspfs)deletionPathogenicrs587776945GRCh37Chr 1, 113642890: 113642890
2LRIG2NM_014813.2(LRIG2): c.2125C> T (p.Arg709Ter)SNVPathogenicrs587776946GRCh37Chr 1, 113657093: 113657093
3LRIG2NM_014813.2(LRIG2): c.2088delC (p.Ser697Hisfs)deletionPathogenicrs587776947GRCh37Chr 1, 113657056: 113657056
4LRIG2NM_014813.2(LRIG2): c.1980_1981insJX891452.1: g.1_371 (p.Ile662Phefs)insertionPathogenicGRCh37Chr 1, 113655282: 113655283

Expression for genes affiliated with Urofacial Syndrome 2

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Search GEO for disease gene expression data for Urofacial Syndrome 2.

Pathways for genes affiliated with Urofacial Syndrome 2

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GO Terms for genes affiliated with Urofacial Syndrome 2

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Sources for Urofacial Syndrome 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet