KEGG DISEASE: Urofacial syndrome

DISEASE: Urofacial syndrome

Entry

H00753                      Disease

Name

Urofacial syndrome

Description

The urofacial syndrome (UFS) is an autosomal recessive disorder characterized by the combination of urological problems and distorted facial expression. Failure of the urinary bladder to void in patients with UFS leads to recurrent urinary tract infection and subsequent renal failure.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H00753  Urofacial syndrome

Pathway

hsa04360

Axon guidance

hsa00531

Glycosaminoglycan degradation

Gene

(UFS1) HPSE2 [HSA:60495] [KO:K07965]
(UFS2) LRIG2 [HSA:9860] [KO:K24609]

Other DBs

ICD-11:

LD2F.1Y

MeSH:

C536480

OMIM:

236730 615112

Reference

PMID:21332471

Authors

Mahmood S, Beetz C, Tahir MM, Imran M, Mumtaz R, Bassmann I, Jahic A, Malik M, Nurnberg G, Hassan SA, Rana S, Nurnberg P, Hubner CA

Title

First HPSE2 missense mutation in urofacial syndrome.

Journal

Clin Genet 81:88-92 (2012)
DOI:10.1111/j.1399-0004.2011.01649.x

Reference

PMID:20560209

Authors

Pang J, Zhang S, Yang P, Hawkins-Lee B, Zhong J, Zhang Y, Ochoa B, Agundez JA, Voelckel MA, Fisher RB, Gu W, Xiong WC, Mei L, She JX, Wang CY

Title

Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.

Journal

Am J Hum Genet 86:957-62 (2010)
DOI:10.1016/j.ajhg.2010.04.016

Reference

PMID:20560210

Authors

Daly SB, Urquhart JE, Hilton E, McKenzie EA, Kammerer RA, Lewis M, Kerr B, Stuart H, Donnai D, Long DA, Burgu B, Aydogdu O, Derbent M, Garcia-Minaur S, Reardon W, Gener B, Shalev S, Smith R, Woolf AS, Black GC, Newman WG

Title

Mutations in HPSE2 cause urofacial syndrome.

Journal

Am J Hum Genet 86:963-9 (2010)
DOI:10.1016/j.ajhg.2010.05.006

Reference

PMID:23313374

Authors

Stuart HM, Roberts NA, Burgu B, Daly SB, Urquhart JE, Bhaskar S, Dickerson JE, Mermerkaya M, Silay MS, Lewis MA, Olondriz MB, Gener B, Beetz C, Varga RE, Gulpinar O, Suer E, Soygur T, Ozcakar ZB, Yalcinkaya F, Kavaz A, Bulum B, Gucuk A, Yue WW, Erdogan F, Berry A, Hanley NA, McKenzie EA, Hilton EN, Woolf AS, Newman WG

Title

LRIG2 mutations cause urofacial syndrome.

Journal

Am J Hum Genet 92:259-64 (2013)
DOI:10.1016/j.ajhg.2012.12.002

LinkDB

» Japanese version

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