KEGG DISEASE: Primrose 症候群

DISEASE: Primrose 症候群

エントリ

H02249

名称

Primrose 症候群

概要

Primrose syndrome (PRIMS) is a rare genetic disorder, characterized by dysmorphic facial features, macrocephaly, and intellectual disability, as well as large body size, height and weight, and calcified pinnae. Recently, mutations in ZBTB20, coding for a zing finger protein, have been identified in PRIMS patients.

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
   LD2F  多発性の構造異常を伴う症候群, 主な体系の関与を伴わないもの
    H02249  Primrose 症候群

病因遺伝子

ZBTB20 [HSA:26137] [KO:K10501]

リンク

ICD-11:

ICD-10:

MeSH:

OMIM:

文献

PMID:27061120

著者

Mattioli F, Piton A, Gerard B, Superti-Furga A, Mandel JL, Unger S

タイトル

Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.

雑誌

Am J Med Genet A 170:1626-9 (2016)
DOI:10.1002/ajmg.a.37645

文献

PMID:25017102

著者

Cordeddu V, Redeker B, Stellacci E, Jongejan A, Fragale A, Bradley TE, Anselmi M, Ciolfi A, Cecchetti S, Muto V, Bernardini L, Azage M, Carvalho DR, Espay AJ, Male A, Molin AM, Posmyk R, Battisti C, Casertano A, Melis D, van Kampen A, Baas F, Mannens MM, Bocchinfuso G, Stella L, Tartaglia M, Hennekam RC

タイトル

Mutations in ZBTB20 cause Primrose syndrome.

雑誌

Nat Genet 46:815-7 (2014)
DOI:10.1038/ng.3035

» English version

All links

Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (2)   
   PubMed (2)   
All databases (5)   

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