KEGG DISEASE: Lodder-Merla syndrome

KEGG

DISEASE: Lodder-Merla syndrome

Entry

H02895                      Disease

Name

Lodder-Merla syndrome;
Gnb5-related intellectual disability-cardiac arrhythmia syndrome

Subgroup

Lodder-Merla syndrome type 1 with impaired intellectual development and cardiac arrhythmia (LDMLS1)
Lodder-Merla syndrome type 2 with developmental delay and with or without cardiac arrhythmia (LDMLS2)

Description

Lodder-Merla syndrome is an autosomal recessive multisystem disorder caused by mutations in GNB5, which encodes the G protein beta subunit 5. Recent studies have linked GNB5 mutations to a spectrum of clinical presentations, ranging from a severe multisystem disorder including intellectual disability, early infantile developmental and epileptic encephalopathy, retinal abnormalities, and cardiac arrhythmias to a milder form characterized by language delay, attention-deficit/hyperactivity disorder, and cognitive impairment, with or without cardiac arrhythmia.

Category

Cardiovascular disease; Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
11 Diseases of the circulatory system
  Cardiac arrhythmia
   BC65  Cardiac arrhythmia associated with genetic disorder
    H02895  Lodder-Merla syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06544  Neuroactive ligand signaling
   H02895  Lodder-Merla syndrome

Pathway

GABAergic synapse

Network

nt06544 Neuroactive ligand signaling

Gene

GNB5 [HSA:10681] [KO:K04539]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Lodder EM, De Nittis P, Koopman CD, Wiszniewski W, Moura de Souza CF, Lahrouchi N, Guex N, Napolioni V, Tessadori F, Beekman L, Nannenberg EA, Boualla L, Blom NA, de Graaff W, Kamermans M, Cocciadiferro D, Malerba N, Mandriani B, Akdemir ZHC, Fish RJ, Eldomery MK, Ratbi I, Wilde AAM, de Boer T, Simonds WF, Neerman-Arbez M, Sutton VR, Kok F, Lupski JR, Reymond A, Bezzina CR, Bakkers J, Merla G

Title

GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.

Journal

Am J Hum Genet 99:704-710 (2016)
DOI:10.1016/j.ajhg.2016.06.025

Reference

Authors

Malerba N, Towner S, Keating K, Squeo GM, Wilson W, Merla G

Title

A NGS-Targeted Autism/ID Panel Reveals Compound Heterozygous GNB5 Variants in a Novel Patient.

Journal

Front Genet 9:626 (2018)
DOI:10.3389/fgene.2018.00626

LinkDB

» Japanese version

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