KEGG DISEASE: 多嚢胞肝

DISEASE: 多嚢胞肝

エントリ

H00545

名称

多嚢胞肝

概要

Isolated polycystic liver disease is an inherited disorder in which cysts occur only in the liver without renal involvement. The two genes, PRKCSH, encoding hepatocystin, and SEC63, are found in patients with isolated polycystic liver disease.

カテゴリ

先天奇形

階層分類

ICD-11 による疾患分類 [BR:jp08403]
13 消化器系の疾患
  肝疾患
   DB99  明示された肝疾患
    H00545  多嚢胞肝

パスウェイ

hsa04141

Protein processing in endoplasmic reticulum

病因遺伝子

(PCLD1) PRKCSH [HSA:5589] [KO:K08288]
(PCLD2) SEC63 [HSA:11231] [KO:K09540]
(PCLD3) ALG8 [HSA:79053] [KO:K03849]
(PCLD4) LRP5 [HSA:4041] [KO:K03068]

For disorders in which liver cysts occur together with kidney cysts, see polycystic kidney disease (H00542).

リンク

ICD-11:

DB99.10

ICD-10:

Q44.6

MeSH:

C536330

OMIM:

174050 617004 617874 617875

文献

PMID:21515270

著者

Strazzabosco M, Somlo S

タイトル

Polycystic liver diseases: congenital disorders of cholangiocyte signaling.

雑誌

Gastroenterology 140:1855-9, 1859.e1 (2011)
DOI:10.1053/j.gastro.2011.04.030

文献

PMID:21790682

著者

Temmerman F, Missiaen L, Bammens B, Laleman W, Cassiman D, Verslype C, van Pelt J, Nevens F

タイトル

Systematic review: the pathophysiology and management of polycystic liver disease.

雑誌

Aliment Pharmacol Ther 34:702-13 (2011)
DOI:10.1111/j.1365-2036.2011.04783.x

文献

PMID:12529853 (PCLD1)

著者

Li A, Davila S, Furu L, Qian Q, Tian X, Kamath PS, King BF, Torres VE, Somlo S

タイトル

Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease.

雑誌

Am J Hum Genet 72:691-703 (2003)
DOI:10.1086/368295

文献

PMID:15133510 (PCLD2)

著者

Davila S, Furu L, Gharavi AG, Tian X, Onoe T, Qian Q, Li A, Cai Y, Kamath PS, King BF, Azurmendi PJ, Tahvanainen P, Kaariainen H, Hockerstedt K, Devuyst O, Pirson Y, Martin RS, Lifton RP, Tahvanainen E, Torres VE, Somlo S

タイトル

Mutations in SEC63 cause autosomal dominant polycystic liver disease.

雑誌

Nat Genet 36:575-7 (2004)
DOI:10.1038/ng1357

文献

PMID:28375157 (PCLD3)

著者

Besse W, Dong K, Choi J, Punia S, Fedeles SV, Choi M, Gallagher AR, Huang EB, Gulati A, Knight J, Mane S, Tahvanainen E, Tahvanainen P, Sanna-Cherchi S, Lifton RP, Watnick T, Pei YP, Torres VE, Somlo S

タイトル

Isolated polycystic liver disease genes define effectors of polycystin-1 function.

雑誌

J Clin Invest 127:1772-1785 (2017)
DOI:10.1172/JCI90129

文献

PMID:24706814 (PCLD4)

著者

Cnossen WR, te Morsche RH, Hoischen A, Gilissen C, Chrispijn M, Venselaar H, Mehdi S, Bergmann C, Veltman JA, Drenth JP

タイトル

Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis.

雑誌

Proc Natl Acad Sci U S A 111:5343-8 (2014)
DOI:10.1073/pnas.1309438111

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