KEGG DISEASE: Nonprogressive cerebellar ataxia with mental retardation

KEGG

DISEASE: Nonprogressive cerebellar ataxia with mental retardation

Entry

H02273                      Disease

Name

Nonprogressive cerebellar ataxia with mental retardation

Description

Nonprogressive cerebellar ataxia with mental retardation (CANPMR) is an autosomal dominant disorder with variable combination of mild dysmorphism, intellectual disability, developmental delay, behavioral problems and cerebellar abnormalities. Heterozygous deletions in the CAMTA1 gene were recently reported in CANPMR patients.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Movement disorders
   8A03  Ataxic disorders
    H02273  Nonprogressive cerebellar ataxia with mental retardation

Gene

CAMTA1 [HSA:23261] [KO:K21596]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Shinawi M, Coorg R, Shimony JS, Grange DK, Al-Kateb H

Title

Intragenic CAMTA1 deletions are associated with a spectrum of neurobehavioral phenotypes.

Journal

Clin Genet 87:478-82 (2015)
DOI:10.1111/cge.12407

Reference

Authors

Thevenon J, Lopez E, Keren B, Heron D, Mignot C, Altuzarra C, Beri-Dexheimer M, Bonnet C, Magnin E, Burglen L, Minot D, Vigneron J, Morle S, Anheim M, Charles P, Brice A, Gallagher L, Amiel J, Haffen E, Mach C, Depienne C, Doummar D, Bonnet M, Duplomb L, Carmignac V, Callier P, Marle N, Mosca-Boidron AL, Roze V, Aral B, Razavi F, Jonveaux P, Faivre L, Thauvin-Robinet C

Title

Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.

Journal

J Med Genet 49:400-8 (2012)
DOI:10.1136/jmedgenet-2012-100856

LinkDB

» Japanese version

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