KEGG   DISEASE: Pierpont syndrome
Entry
H02334                      Disease                                
Name
Pierpont syndrome
Description
Pierpont syndrome is a rare disorder characterized by developmental delay, characteristic facial gestalt, hearing loss, and abnormal fat distribution in the distal limbs. Mutations in TBL1XR1 have been described recently in patients with this disease.
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
    H02334  Pierpont syndrome
Gene
TBL1XR1 [HSA:79718] [KO:K04508]
Other DBs
ICD-11: LD2F.1Y
MeSH: C566559
OMIM: 602342
Reference
PMID:26769062
  Authors
Heinen CA, Jongejan A, Watson PJ, Redeker B, Boelen A, Boudzovitch-Surovtseva O, Forzano F, Hordijk R, Kelley R, Olney AH, Pierpont ME, Schaefer GB, Stewart F, van Trotsenburg AS, Fliers E, Schwabe JW, Hennekam RC
  Title
A specific mutation in TBL1XR1 causes Pierpont syndrome.
  Journal
J Med Genet 53:330-7 (2016)
DOI:10.1136/jmedgenet-2015-103233
Reference
PMID:28562391
  Authors
Kahlert AK, Weidensee S, Mackenroth L, Porrmann J, Rump A, Di Donato N, Schrock E, Tzschach A
  Title
Pierpont syndrome: report of a new patient.
  Journal
Clin Dysmorphol 26:205-208 (2017)
DOI:10.1097/MCD.0000000000000184
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