UFS2
MCID: URF002
MIFTS: 21

Urofacial Syndrome 2 (UFS2)

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

Aliases & Classifications for Urofacial Syndrome 2

MalaCards integrated aliases for Urofacial Syndrome 2:

Name: Urofacial Syndrome 2 57 72 29 13 6 70
Ufs2 57 72
Urofacial Syndrome, Type 2 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
urofacial syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 615112
OMIM Phenotypic Series 57 PS236730
UMLS 70 C3554520

Summaries for Urofacial Syndrome 2

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Urofacial Syndrome 2, is also known as ufs2, and has symptoms including constipation An important gene associated with Urofacial Syndrome 2 is LRIG2 (Leucine Rich Repeats And Immunoglobulin Like Domains 2). Related phenotypes are constipation and renal insufficiency

UniProtKB/Swiss-Prot : 72 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

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 hydronephrosis 31 HP:0000126
5 recurrent urinary tract infections 31 HP:0000010
6 enuresis 31 HP:0000805
7 urinary urgency 31 HP:0000012

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Gastrointestinal:
constipation

Genitourinary Kidneys:
hydronephrosis
renal failure
urosepsis

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

Genitourinary Ureters:
vesicoureteral reflux

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

Clinical features from OMIM®:

615112 (Updated 20-May-2021)

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 29 LRIG2

Anatomical Context for Urofacial Syndrome 2

Publications for Urofacial Syndrome 2

Articles related to Urofacial Syndrome 2:

# Title Authors PMID Year
1
LRIG2 mutations cause urofacial syndrome. 6 57
23313374 2013
2
Glycated albumin upregulates upstream stimulatory factor 2 gene transcription in mesangial cells. 61
20410211 2010

Variations for Urofacial Syndrome 2

ClinVar genetic disease variations for Urofacial Syndrome 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LRIG2 NM_014813.3(LRIG2):c.1230del (p.Glu410fs) Deletion Pathogenic 40206 rs587776945 GRCh37: 1:113642889-113642889
GRCh38: 1:113100267-113100267
2 LRIG2 NM_014813.3(LRIG2):c.2125C>T (p.Arg709Ter) SNV Pathogenic 40207 rs587776946 GRCh37: 1:113657093-113657093
GRCh38: 1:113114471-113114471
3 LRIG2 NM_014813.3(LRIG2):c.2088del (p.Ser697fs) Deletion Pathogenic 40208 rs587776947 GRCh37: 1:113657054-113657054
GRCh38: 1:113114432-113114432
4 LRIG2 NM_014813.2(LRIG2):c.1980_1981insJX891452.1:g.1_371 (p.Ile662Phefs) Insertion Pathogenic 40209 GRCh37: 1:113655282-113655283
GRCh38: 1:113112660-113112661
5 LRIG2 NM_014813.3(LRIG2):c.2746C>T (p.Arg916Ter) SNV Pathogenic 997664 GRCh37: 1:113661920-113661920
GRCh38: 1:113119298-113119298
6 LRIG2 NM_014813.3(LRIG2):c.458C>A (p.Ser153Ter) SNV Pathogenic 1032641 GRCh37: 1:113636129-113636129
GRCh38: 1:113093507-113093507
7 LRIG2 NC_000001.11:g.113112477_113112478del Microsatellite Likely pathogenic 666570 rs1570764426 GRCh37: 1:113655099-113655100
GRCh38: 1:113112477-113112478
8 LRIG2 NM_014813.3(LRIG2):c.1696C>T (p.His566Tyr) SNV Uncertain significance 548630 rs201013312 GRCh37: 1:113653082-113653082
GRCh38: 1:113110460-113110460
9 LRIG2 NM_014813.3(LRIG2):c.256C>T (p.Arg86Trp) SNV Uncertain significance 548631 rs554758747 GRCh37: 1:113633956-113633956
GRCh38: 1:113091334-113091334

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
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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