KEGG DISEASE: 嚢胞腎を伴う脳室拡大

DISEASE: 嚢胞腎を伴う脳室拡大

エントリ

H02951

名称

嚢胞腎を伴う脳室拡大

概要

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.

カテゴリ

先天奇形

階層分類

ICD-11 による疾患分類 [BR:jp08403]
20 発達異常
  多発性の発達異常または症候群
   LD20  主な特徴として中枢神経系の異常を伴う症候群
    H02951  嚢胞腎を伴う脳室拡大

病因遺伝子

CRB2 [HSA:286204] [KO:K16681]

リンク

ICD-11:

LD20.Y

MeSH:

C565657

OMIM:

219730

文献

PMID:2478019

著者

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

タイトル

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

雑誌

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

文献

PMID:25557780

著者

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

タイトル

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

雑誌

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

文献

PMID:27004616

著者

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

タイトル

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

雑誌

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

LinkDB

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