KEGG DISEASE: Leukodystrophy and cerebellar atrophy

KEGG

DISEASE: Leukodystrophy and cerebellar atrophy

Entry

H02983                      Disease

Name

Leukodystrophy and cerebellar atrophy

Description

Leukodystrophy and cerebellar atrophy (LDCA) is a rare neurodevelopmental disorder characterized by cerebellar ataxias, developmental delay, and intellectual disability. It has been reported that mutations in LSM7 cause this disease. LSM7 encodes a subunit of the LSM complex, involved in pre-RNA maturation and mRNA degradation.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H02983  Leukodystrophy and cerebellar atrophy
Pathway-based classification of diseases [BR:br08402]
Replication, repair and transcription
  nt06547  Spliceosome
   H02983  Leukodystrophy and cerebellar atrophy

Network

nt06547 Spliceosome

Gene

LSM7 [HSA:51690] [KO:K12626]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Crespin M, Siquier-Pernet K, Marzin P, Bole-Feysot C, Malan V, Nitschke P, Hully M, Roux CJ, Lemoine M, Rio M, Boddaert N, Courtin T, Cantagrel V

Title

LSM7 variants involving key amino acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophy.

Journal

HGG Adv 6:100372 (2025)
DOI:10.1016/j.xhgg.2024.100372

Reference

Authors

Derksen A, Shih HY, Forget D, Darbelli L, Tran LT, Poitras C, Guerrero K, Tharun S, Alkuraya FS, Kurdi WI, Nguyen CE, Laberge AM, Si Y, Gauthier MS, Bonkowsky JL, Coulombe B, Bernard G

Title

Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease.

Journal

HGG Adv 2:100034 (2021)
DOI:10.1016/j.xhgg.2021.100034

LinkDB

» Japanese version

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