KEGG   DISEASE: Primrose syndrome
Entry
H02249                      Disease                                
Name
Primrose syndrome
Description
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.
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
    H02249  Primrose syndrome
Gene
ZBTB20 [HSA:26137] [KO:K10501]
Other DBs
ICD-11: LD2F.1Y
MeSH: C536420
OMIM: 259050
Reference
  Authors
Mattioli F, Piton A, Gerard B, Superti-Furga A, Mandel JL, Unger S
  Title
Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism.
  Journal
Am J Med Genet A 170:1626-9 (2016)
DOI:10.1002/ajmg.a.37645
Reference
  Authors
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
  Title
Mutations in ZBTB20 cause Primrose syndrome.
  Journal
Nat Genet 46:815-7 (2014)
DOI:10.1038/ng.3035
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