KEGG DISEASE: Marshall syndrome

DISEASE: Marshall syndrome

Entry

H02081                      Disease

Name

Marshall syndrome

Description

Marshall syndrome (MRSHS) is a rare autosomal dominant skeletal dysplasia caused by mutations in COL11A1, which encodes collagen type XI alpha-1 chain. It is characterized by midfacial hypoplasia, high myopia, and sensorineural-hearing deficit.

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
    H02081  Marshall syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular processes
  nt06539  Cytoskeleton in muscle cells
   H02081  Marshall syndrome

Pathway

hsa04820 Cytoskeleton in muscle cells

Network

nt06539 Cytoskeleton in muscle cells

Gene

COL11A1 [HSA:1301] [KO:K19721]

Other DBs

ICD-11:

LD27.0Y

MeSH:

C536025

OMIM:

154780

Reference

PMID:10486316

Authors

Annunen S, Korkko J, Czarny M, Warman ML, Brunner HG, Kaariainen H, Mulliken JB, Tranebjaerg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SL, Friedrich CA, Kaitila I, Krawczynski MR, Latos-Bielenska A, Mukai S, Olsen BR, Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko L

Title

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

Journal

Am J Hum Genet 65:974-83 (1999)
DOI:10.1086/302585

Reference

PMID:9529347

Authors

Griffith AJ, Sprunger LK, Sirko-Osadsa DA, Tiller GE, Meisler MH, Warman ML

Title

Marshall syndrome associated with a splicing defect at the COL11A1 locus.

Journal

Am J Hum Genet 62:816-23 (1998)
DOI:10.1086/301789

Reference

PMID:25073711

Authors

Khalifa O, Imtiaz F, Ramzan K, Allam R, Hemidan AA, Faqeih E, Abuharb G, Balobaid A, Sakati N, Owain MA

Title

Marshall syndrome: further evidence of a distinct phenotypic entity and report of new findings.

Journal

Am J Med Genet A 164A:2601-6 (2014)
DOI:10.1002/ajmg.a.36681

LinkDB

» Japanese version

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