KEGG DISEASE: ACCES syndrome

KEGG

DISEASE: ACCES syndrome

Entry

H02758                      Disease

Name

ACCES syndrome

Description

ACCES syndrome is associated with a variable phenotype that includes aplasia cutis congenita and ectrodactyly as specific features. It has been reported that mutations in UBA2 cause this syndrome. UBA2 plays a key role in the post-translational modification of protein (SUMOylation). SUMOylation does not only target proteins for degradation, but is also involved in cell cycle regulation, subcellular trafficking, signal transduction, stress responses, and chromatin structure dynamics.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H02758  ACCES syndrome

Gene

UBA2 [HSA:10054] [KO:K10685]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Aerden M, Bauters M, Van Den Bogaert K, Vermeesch JR, Holvoet M, Plasschaert F, Devriendt K

Title

Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly.

Journal

Eur J Med Genet 63:104009 (2020)
DOI:10.1016/j.ejmg.2020.104009

Reference

Authors

Marble M, Guillen Sacoto MJ, Chikarmane R, Gargiulo D, Juusola J

Title

Missense variant in UBA2 associated with aplasia cutis congenita, duane anomaly, hip dysplasia and other anomalies: A possible new disorder involving the SUMOylation pathway.

Journal

Am J Med Genet A 173:758-761 (2017)
DOI:10.1002/ajmg.a.38078

Reference

Authors

Schnur RE, Yousaf S, Liu J, Chung WK, Rhodes L, Marble M, Zambrano RM, Sobreira N, Jayakar P, Pierpont ME, Schultz MJ, Pichurin PN, Olson RJ, Graham GE, Osmond M, Contreras-Garcia GA, Campo-Neira KA, Penaloza-Mantilla CA, Flage M, Kuppa S, Navarro K, Sacoto MJG, Wentzensen IM, Scarano MI, Juusola J, Prada CE, Hufnagel RB

Title

UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.

Journal

Genet Med 23:1624-1635 (2021)
DOI:10.1038/s41436-021-01182-1

LinkDB

» Japanese version

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