UFS2
MCID: URF002
MIFTS: 20

Urofacial Syndrome 2 (UFS2) malady

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

Aliases & Classifications for Urofacial Syndrome 2

Aliases & Descriptions for Urofacial Syndrome 2:

Name: Urofacial Syndrome 2 54 66 29 13 69
Ufs2 66

Characteristics:

HPO:

32
urofacial syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 615112

Summaries for Urofacial Syndrome 2

OMIM : 54 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 constipation, renal insufficiency and vesicoureteral reflux. 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 : 66 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

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:

id Related Disease Score Top Affiliating Genes
1 lrig2-related urofacial syndrome 11.0
2 urofacial syndrome 1 10.9

Symptoms & Phenotypes for Urofacial Syndrome 2

Symptoms by clinical synopsis from OMIM:

615112

Clinical features from OMIM:

615112

Human phenotypes related to Urofacial Syndrome 2:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 constipation 32 HP:0002019
2 renal insufficiency 32 HP:0000083
3 vesicoureteral reflux 32 HP:0000076
4 recurrent urinary tract infections 32 HP:0000010
5 hydronephrosis 32 HP:0000126
6 enuresis 32 HP:0000805

UMLS symptoms related to Urofacial Syndrome 2:


constipation

Drugs & Therapeutics for Urofacial Syndrome 2

Search Clinical Trials , NIH Clinical Center for Urofacial Syndrome 2

Genetic Tests for Urofacial Syndrome 2

Genetic tests related to Urofacial Syndrome 2:

id Genetic test Affiliating Genes
1 Urofacial Syndrome 2 29

Anatomical Context for Urofacial Syndrome 2

MalaCards organs/tissues related to Urofacial Syndrome 2:

39
Kidney

Publications for Urofacial Syndrome 2

Variations for Urofacial Syndrome 2

ClinVar genetic disease variations for Urofacial Syndrome 2:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LRIG2 NM_014813.2(LRIG2): c.1230delA (p.Glu410Aspfs) deletion Pathogenic rs587776945 GRCh37 Chromosome 1, 113642890: 113642890
2 LRIG2 NM_014813.2(LRIG2): c.2125C> T (p.Arg709Ter) single nucleotide variant Pathogenic rs587776946 GRCh37 Chromosome 1, 113657093: 113657093
3 LRIG2 NM_014813.2(LRIG2): c.2088delC (p.Ser697Hisfs) deletion Pathogenic rs587776947 GRCh37 Chromosome 1, 113657056: 113657056
4 LRIG2 NM_014813.2(LRIG2): c.1980_1981insJX891452.1: g.1_371 (p.Ile662Phefs) insertion Pathogenic GRCh37 Chromosome 1, 113655282: 113655283

Expression for Urofacial Syndrome 2

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

Pathways for Urofacial Syndrome 2

GO Terms for Urofacial Syndrome 2

Sources for Urofacial Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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