KEGG DISEASE: Ventriculomegaly with cystic kidney disease

KEGG

DISEASE: Ventriculomegaly with cystic kidney disease

Entry

H02951                      Disease

Name

Ventriculomegaly with cystic kidney disease

Description

Ventriculomegaly with cystic kidney disease (VMCKD) is a novel syndrome characterized by greatly elevated maternal serum alpha-fetoprotein and/or amniotic fluid alpha-fetoprotein levels, cerebral ventriculomegaly and renal findings similar to Finnish congenital nephrosis [DS: H01657]. All reported patients have been homozygotes or compound heterozygotes for sequence variants in the CRB2 genes. CRB2 encodes a transmembrane protein that is predominantly expressed in human fetal eye, retinal pigment epithelium/choroid, brain, and kidney.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD20  Syndromes with central nervous system anomalies as a major feature
    H02951  Ventriculomegaly with cystic kidney disease

Gene

CRB2 [HSA:286204] [KO:K16681]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Reuss A, den Hollander JC, Niermeijer MF, Wladimiroff JW, van Diggelen OP, Lindhout D, Los FJ

Title

Prenatal diagnosis of cystic kidney disease with ventriculomegaly: a report of six cases in two related sibships.

Journal

Am J Med Genet 33:385-9 (1989)
DOI:10.1002/ajmg.1320330319

Reference

Authors

Slavotinek A, Kaylor J, Pierce H, Cahr M, DeWard SJ, Schneidman-Duhovny D, Alsadah A, Salem F, Schmajuk G, Mehta L

Title

CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein.

Journal

Am J Hum Genet 96:162-9 (2015)
DOI:10.1016/j.ajhg.2014.11.013

Reference

Authors

Lamont RE, Tan WH, Innes AM, Parboosingh JS, Schneidman-Duhovny D, Rajkovic A, Pappas J, Altschwager P, DeWard S, Fulton A, Gray KJ, Krall M, Mehta L, Rodan LH, Saller DN Jr, Steele D, Stein D, Yatsenko SA, Bernier FP, Slavotinek AM

Title

Expansion of phenotype and genotypic data in CRB2-related syndrome.

Journal

Eur J Hum Genet 24:1436-44 (2016)
DOI:10.1038/ejhg.2016.24

LinkDB

» Japanese version

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