KEGG DISEASE: Fontaine progeroid syndrome

KEGG

DISEASE: Fontaine progeroid syndrome

Entry

H02480                      Disease

Name

Fontaine progeroid syndrome

Subgroup

Gorlin-Chaudhry-Moss syndrome
Fontaine-Farriaux syndrome

Description

Fontaine progeroid syndrome (FPS) is a rare genetic disorder characterized by early aging, bone dysplasia, characteristic face, and early demise. Mutations in SLC25A24, that encodes for calcium-binding mitochondrial carrier protein, cause FPS. Formerly, FPS was separated into two syndromes, Gorlin-Chaudhry-Moss syndrome and Fontaine-Farriaux syndrome. Because they share similar clinical manifestations and have common genetic basis, it has been proposed to be integrated into a single disorder.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2B  Syndromes with premature ageing appearance as a major feature
    H02480  Fontaine progeroid syndrome

Gene

SLC25A24 [HSA:29957] [KO:K14684]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Ehmke N, Graul-Neumann L, Smorag L, Koenig R, Segebrecht L, Magoulas P, Scaglia F, Kilic E, Hennig AF, Adolphs N, Saha N, Fauler B, Kalscheuer VM, Hennig F, Altmuller J, Netzer C, Thiele H, Nurnberg P, Yigit G, Jager M, Hecht J, Kruger U, Mielke T, Krawitz PM, Horn D, Schuelke M, Mundlos S, Bacino CA, Bonnen PE, Wollnik B, Fischer-Zirnsak B, Kornak U

Title

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction.

Journal

Am J Hum Genet 101:833-843 (2017)
DOI:10.1016/j.ajhg.2017.09.016

Reference

Authors

Writzl K, Maver A, Kovacic L, Martinez-Valero P, Contreras L, Satrustegui J, Castori M, Faivre L, Lapunzina P, van Kuilenburg ABP, Radovic S, Thauvin-Robinet C, Peterlin B, Del Arco A, Hennekam RC

Title

De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise.

Journal

Am J Hum Genet 101:844-855 (2017)
DOI:10.1016/j.ajhg.2017.09.017

Reference

Authors

Ryu J, Ko JM, Shin CH

Title

A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up.

Journal

BMC Med Genet 20:188 (2019)
DOI:10.1186/s12881-019-0921-9

LinkDB

» Japanese version

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