KEGG   DISEASE: Grange syndrome
Entry
H02224                      Disease                                
Name
Grange syndrome
Description
Grange syndrome comprises arterial stenoses with hypertension, brachysyndactyly, bone fragility, learning disability, and cardiac defects. It has been reported that mutations in YY1AP1 lead to Grange syndrome.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD28  Syndromes with connective tissue involvement as a major feature
    H02224  Grange syndrome
Gene
YY1AP1 [HSA:55249] [KO:K23803]
Other DBs
ICD-11: LD28.Y
MeSH: C566529
OMIM: 602531
Reference
PMID:27939641
  Authors
Guo DC, Duan XY, Regalado ES, Mellor-Crummey L, Kwartler CS, Kim D, Lieberman K, de Vries BBA, Pfundt R, Schinzel A, Kotzot D, Shen X, Yang ML, Bamshad MJ, Nickerson DA, Gornik HL, Ganesh SK, Braverman AC, Grange DK, Milewicz DM
  Title
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease.
  Journal
Am J Hum Genet 100:21-30 (2017)
DOI:10.1016/j.ajhg.2016.11.008
Reference
PMID:16691574
  Authors
Wallerstein R, Augustyn AM, Wallerstein D, Elton L, Tejeiro B, Johnson V, Lieberman K
  Title
A new case of Grange syndrome without cardiac findings.
  Journal
Am J Med Genet A 140:1316-20 (2006)
DOI:10.1002/ajmg.a.31125
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