KEGG DISEASE: Short stature-micrognathia syndrome

KEGG

DISEASE: Short stature-micrognathia syndrome

Entry

H03039                      Disease

Name

Short stature-micrognathia syndrome

Description

Short stature-micrognathia syndrome (SSMG), also known as ARCN1-related syndrome, presents with a wide clinical spectrum ranging from a severe embryonic lethal syndrome to a mild syndrome with intrauterine growth restriction, micrognathia, and short stature without intellectual disability. ARCN1 encodes the coatomer subunit delta of COPI.

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
    H03039  Short stature-micrognathia syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06550  Lysosome biogenesis
   H03039  Short stature-micrognathia syndrome

Network

nt06550 Lysosome biogenesis

Gene

ARCN1 [HSA:372] [KO:K20471]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Izumi K, Brett M, Nishi E, Drunat S, Tan ES, Fujiki K, Lebon S, Cham B, Masuda K, Arakawa M, Jacquinet A, Yamazumi Y, Chen ST, Verloes A, Okada Y, Katou Y, Nakamura T, Akiyama T, Gressens P, Foo R, Passemard S, Tan EC, El Ghouzzi V, Shirahige K

Title

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.

Journal

Am J Hum Genet 99:451-9 (2016)
DOI:10.1016/j.ajhg.2016.06.011

Reference

Authors

Ritter AL, Gold J, Hayashi H, Ackermann AM, Hanke S, Skraban C, Cuddapah S, Bhoj E, Li D, Kuroda Y, Wen J, Takeda R, Bibb A, El Chehadeh S, Piton A, Ohl J, Kukolich MK, Nagasaki K, Kato K, Ogi T, Bhatti T, Russo P, Krock B, Murrell JR, Sullivan JA, Shashi V, Stong N, Hakonarson H, Sawano K, Torti E, Willaert R, Si Y, Wilcox WR, Wirgenes KV, Thomassen K, Carlotti K, Erwin A, Lazier J, Marquardt T, He M, Edmondson AC, Izumi K

Title

Expanding the phenotypic spectrum of ARCN1-related syndrome.

Journal

Genet Med 24:1227-1237 (2022)
DOI:10.1016/j.gim.2022.02.005

LinkDB

» Japanese version

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