KEGG DISEASE: Turnpenny-Fry syndrome

KEGG

DISEASE: Turnpenny-Fry syndrome

Entry

H02611                      Disease

Name

Turnpenny-Fry syndrome

Description

Turnpenny-Fry syndrome (TPFS) is an extremely rare disease characterized by intellectual disability, developmental delay, facial dysmorphism, and skeletal abnormalities. It has been reported that mutations in PCGF2 cause this syndrome. PCGF2 plays a role in embryogenesis, cell proliferation, histone modification, and chromatin remodeling via polycomb repressive complex 1 (PRC1).

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H02611  Turnpenny-Fry syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06523  Epigenetic regulation by Polycomb complexes
   H02611  Turnpenny-Fry syndrome

Network

nt06523 Epigenetic regulation by Polycomb complexes

Gene

PCGF2 [HSA:7703] [KO:K11460]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Turnpenny PD, Wright MJ, Sloman M, Caswell R, van Essen AJ, Gerkes E, Pfundt R, White SM, Shaul-Lotan N, Carpenter L, Schaefer GB, Fryer A, Innes AM, Forbes KP, Chung WK, McLaughlin H, Henderson LB, Roberts AE, Heath KE, Paumard-Hernandez B, Gener B, Fawcett KA, Gjergja-Juraski R, Pilz DT, Fry AE

Title

Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.

Journal

Am J Hum Genet 103:786-793 (2018)
DOI:10.1016/j.ajhg.2018.09.012

Reference

Authors

Ercoskun P, Yuce Kahraman C, Adanur Saglam K, Kanjee M, Tatar A

Title

A new case of Turnpenny-Fry syndrome.

Journal

Am J Med Genet A 188:688-691 (2022)
DOI:10.1002/ajmg.a.62560

LinkDB

» Japanese version

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