UFS2
MCID: URF002
MIFTS: 19

Urofacial Syndrome 2 (UFS2)

Categories: Fetal diseases, Genetic 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 75 29 13 6 73
Ufs2 57 75
Urofacial Syndrome, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
urofacial syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



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)

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). Affiliated tissues include kidney, and related phenotypes are constipation and renal insufficiency

UniProtKB/Swiss-Prot : 75 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:

57
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

Human phenotypes related to Urofacial Syndrome 2:

32 (show all 7)
# 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 urinary urgency 32 HP:0000012
7 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:

# Genetic test Affiliating Genes
1 Urofacial Syndrome 2 29 LRIG2

Anatomical Context for Urofacial Syndrome 2

MalaCards organs/tissues related to Urofacial Syndrome 2:

41
Kidney

Publications for Urofacial Syndrome 2

Variations for Urofacial Syndrome 2

ClinVar genetic disease variations for Urofacial Syndrome 2:

6 (show all 12)
# 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.1230delA (p.Glu410Aspfs) deletion Pathogenic rs587776945 GRCh38 Chromosome 1, 113100268: 113100268
3 LRIG2 NM_014813.2(LRIG2): c.2125C> T (p.Arg709Ter) single nucleotide variant Pathogenic rs587776946 GRCh37 Chromosome 1, 113657093: 113657093
4 LRIG2 NM_014813.2(LRIG2): c.2125C> T (p.Arg709Ter) single nucleotide variant Pathogenic rs587776946 GRCh38 Chromosome 1, 113114471: 113114471
5 LRIG2 NM_014813.2(LRIG2): c.2088delC (p.Ser697Hisfs) deletion Pathogenic rs587776947 GRCh37 Chromosome 1, 113657056: 113657056
6 LRIG2 NM_014813.2(LRIG2): c.2088delC (p.Ser697Hisfs) deletion Pathogenic rs587776947 GRCh38 Chromosome 1, 113114434: 113114434
7 LRIG2 NM_014813.2(LRIG2): c.1980_1981insJX891452.1: g.1_371 (p.Ile662Phefs) insertion Pathogenic GRCh37 Chromosome 1, 113655282: 113655283
8 LRIG2 NM_014813.2(LRIG2): c.1980_1981insJX891452.1: g.1_371 (p.Ile662Phefs) insertion Pathogenic GRCh38 Chromosome 1, 113112660: 113112661
9 LRIG2 NM_014813.2(LRIG2): c.256C> T (p.Arg86Trp) single nucleotide variant Uncertain significance rs554758747 GRCh38 Chromosome 1, 113091334: 113091334
10 LRIG2 NM_014813.2(LRIG2): c.256C> T (p.Arg86Trp) single nucleotide variant Uncertain significance rs554758747 GRCh37 Chromosome 1, 113633956: 113633956
11 LRIG2 NM_014813.2(LRIG2): c.1696C> T (p.His566Tyr) single nucleotide variant Uncertain significance rs201013312 GRCh37 Chromosome 1, 113653082: 113653082
12 LRIG2 NM_014813.2(LRIG2): c.1696C> T (p.His566Tyr) single nucleotide variant Uncertain significance rs201013312 GRCh38 Chromosome 1, 113110460: 113110460

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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