MCID: URF002
MIFTS: 18

Urofacial Syndrome 2

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

Aliases & Classifications for Urofacial Syndrome 2

MalaCards integrated aliases for Urofacial Syndrome 2:

Name: Urofacial Syndrome 2 53 71 28 13 69
Ufs2 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
urofacial syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Urofacial Syndrome 2

OMIM : 53 Urofacial syndrome (UFS; Ochoa syndrome) is an autosomal recessive disorder characterized by congenital urinary bladder dysfunction associated with an abnormal facial expression upon smiling, laughing, and crying. Affected individuals have an overactive detrusor muscle that fails to fully expel urine because of concomitant internal sphincter contraction, and patients may experience lifelong urinary incontinence, recurrent urosepsis, vesicoureteral reflux, and renal failure. In addition, some patients have severe constipation, indicating a generalized elimination defect (summary by Stuart et al., 2013). For a discussion of genetic heterogeneity of UFS, see UFS1 (236730). (615112)

MalaCards based summary : Urofacial Syndrome 2, is also known as ufs2, 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 : 71 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

Symptoms & Phenotypes for Urofacial Syndrome 2

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Face:
abnormal facial expression upon smiling, laughing, or crying

Genitourinary Kidneys:
hydronephrosis
renal failure
urosepsis

Genitourinary Bladder:
overactive bladder
trabeculated bladder
low-capacity bladder
enuresis
urinary tract infection

Abdomen Gastroin testinal:
constipation

Genitourinary Ureters:
vesicoureteral reflux


Clinical features from OMIM:

615112

Human phenotypes related to Urofacial Syndrome 2:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 constipation 31 HP:0002019
2 renal insufficiency 31 HP:0000083
3 vesicoureteral reflux 31 HP:0000076
4 recurrent urinary tract infections 31 HP:0000010
5 hydronephrosis 31 HP:0000126
6 urinary urgency 31 HP:0000012
7 enuresis 31 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:

# Genetic test Affiliating Genes
1 Urofacial Syndrome 2 28 LRIG2

Anatomical Context for Urofacial Syndrome 2

MalaCards organs/tissues related to Urofacial Syndrome 2:

38
Kidney

Publications for Urofacial Syndrome 2

Variations for Urofacial Syndrome 2

ClinVar genetic disease variations for Urofacial Syndrome 2:

6
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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