KEGG DISEASE: Meester-Loeys syndrome

DISEASE: Meester-Loeys syndrome

Entry

H02720                      Disease

Name

Meester-Loeys syndrome

Supergrp

Familial thoracic aortic aneurysm and dissection [DS:H00801]

Description

Meester-Loeys syndrome (MRLS) is an X-linked thoracic aortic aneurysm and dissection (TAAD) syndrome. In addition to the aorta, aneurysms in the brain, pulmonary artery, and ductus arteriosus have been described. The disease is caused by loss-of-function mutations in the biglycan gene (BGN). Biglycan is a small leucine-rich class I proteoglycan involved in the maintenance and assembly of the extracellular matrix (ECM).

Category

Cardiovascular disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD28  Syndromes with connective tissue involvement as a major feature
    H02720  Meester-Loeys syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06539  Cytoskeleton in muscle cells
   H02720  Meester-Loeys syndrome

Pathway

hsa04820 Cytoskeleton in muscle cells

Network

nt06539 Cytoskeleton in muscle cells

Gene

BGN [HSA:633] [KO:K08118]

Other DBs

ICD-11:

LD28.0Y

ICD-10:

I71.1

OMIM:

300989

Reference

PMID:38531898

Authors

Meester JAN, Hebert A, Bastiaansen M, Rabaut L, Bastianen J, Boeckx N, Ashcroft K, Atwal PS, Benichou A, Billon C, Blankensteijn JD, Brennan P, Bucks SA, Campbell IM, Conrad S, Curtis SL, Dasouki M, Dent CL, Eden J, Goel H, Hartill V, Houweling AC, Isidor B, Jackson N, Koopman P, Korpioja A, Kraatari-Tiri M, Kuulavainen L, Lee K, Low KJ, Lu AC, McManus ML, Oakley SP, Oliver J, Organ NM, Overwater E, Revencu N, Trainer AH, Trivedi B, Turner CLS, Whittington R, Zankl A, Zentner D, Van Laer L, Verstraeten A, Loeys BL

Title

Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.

Journal

NPJ Genom Med 9:22 (2024)
DOI:10.1038/s41525-024-00413-z

» Japanese version

All links

Network (2)   
   KEGG NETWORK (1)   
   KEGG VARIANT (1)   
Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (1)   
   PubMed (1)   
All databases (6)   

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