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X-linked spasticity-intellectual disability-epilepsy syndrome

MedGen UID:: 1376165
•Concept ID:: C4510949
•: Disease or Syndrome

Synonym:	X-linked spasticity, intellectual disability, epilepsy syndrome
SNOMED CT:	X-linked spasticity, intellectual disability, epilepsy syndrome (725163002)
Modes of inheritance:	X-linked recessive inheritance MedGen UID: 375779 •Concept ID: C1845977 • Finding Source: Orphanet A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. See: This record X-linked recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0017856
Orphanet:	ORPHA3175

Definition

This syndrome is characterised by myoclonic epilepsy with generalised spasticity and intellectual deficit. It has been described in six males from two generations of one family. Transmission appears to be X-linked recessive and the syndrome is caused by mutations in the aristaless-related homeobox gene (ARX, Xp22.13). [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

X-linked spasticity-intellectual disability-epilepsy syndrome

ARX-related epileptic encephalopathy
- X-linked spasticity-intellectual disability-epilepsy syndrome

Professional guidelines

PubMed

Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.

Nizon M, Andrieux J, Rooryck C, de Blois MC, Bourel-Ponchel E, Bourgois B, Boute O, David A, Delobel B, Duban-Bedu B, Giuliano F, Goldenberg A, Grotto S, Héron D, Karmous-Benailly H, Keren B, Lacombe D, Lapierre JM, Le Caignec C, Le Galloudec E, Le Merrer M, Le Moing AG, Mathieu-Dramard M, Nusbaum S, Pichon O, Pinson L, Raoul O, Rio M, Romana S, Roubertie A, Colleaux L, Turleau C, Vekemans M, Nabbout R, Malan V
Am J Med Genet A 2015 Jan;167A(1):111-22. Epub 2014 Nov 25 doi: 10.1002/ajmg.a.36807. PMID: 25425167

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Recent clinical studies

Etiology

Loss of SLC9A6/NHE6 impairs nociception in a mouse model of Christianson syndrome.

Petitjean H, Fatima T, Mouchbahani-Constance S, Davidova A, Ferland CE, Orlowski J, Sharif-Naeini R
Pain 2020 Nov;161(11):2619-2628. doi: 10.1097/j.pain.0000000000001961. PMID: 32569089 Free PMC Article

EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.

Skopkova M, Hennig F, Shin BS, Turner CE, Stanikova D, Brennerova K, Stanik J, Fischer U, Henden L, Müller U, Steinberger D, Leshinsky-Silver E, Bottani A, Kurdiova T, Ukropec J, Nyitrayova O, Kolnikova M, Klimes I, Borck G, Bahlo M, Haas SA, Kim JR, Lotspeich-Cole LE, Gasperikova D, Dever TE, Kalscheuer VM
Hum Mutat 2017 Apr;38(4):409-425. Epub 2017 Jan 23 doi: 10.1002/humu.23170. PMID: 28055140 Free PMC Article

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Diagnosis

Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome.

Yamada M, Suzuki H, Futagawa H, Takenouchi T, Miya F, Yoshihashi H, Kosaki K
Eur J Med Genet 2022 Jun;65(6):104512. Epub 2022 Apr 18 doi: 10.1016/j.ejmg.2022.104512. PMID: 35439611

Loss of SLC9A6/NHE6 impairs nociception in a mouse model of Christianson syndrome.

Classification of the Molecular Defects Associated with Pathogenic Variants of the SLC6A8 Creatine Transporter.

Salazar MD, Zelt NB, Saldivar R, Kuntz CP, Chen S, Penn WD, Bonneau R, Koehler Leman J, Schlebach JP
Biochemistry 2020 Apr 7;59(13):1367-1377. Epub 2020 Mar 30 doi: 10.1021/acs.biochem.9b00956. PMID: 32207963

Syndrome of X linked intellectual disability, epilepsy, progressive brain atrophy and large head associated with SLC9A6 mutation.

Padmanabha H, Saini AG, Sahu JK, Singhi P
BMJ Case Rep 2017 Dec 22;2017 doi: 10.1136/bcr-2017-222050. PMID: 29275387 Free PMC Article

Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.

Pescosolido MF, Stein DM, Schmidt M, El Achkar CM, Sabbagh M, Rogg JM, Tantravahi U, McLean RL, Liu JS, Poduri A, Morrow EM
Ann Neurol 2014 Oct;76(4):581-93. Epub 2014 Sep 19 doi: 10.1002/ana.24225. PMID: 25044251 Free PMC Article

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Clinical prediction guides

Loss of SLC9A6/NHE6 impairs nociception in a mouse model of Christianson syndrome.

Classification of the Molecular Defects Associated with Pathogenic Variants of the SLC6A8 Creatine Transporter.

A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.

Hanchard NA, Carvalho CM, Bader P, Thome A, Omo-Griffith L, del Gaudio D, Pehlivan D, Fang P, Schaaf CP, Ramocki MB, Lupski JR, Cheung SW
BMC Med Genet 2012 Aug 10;13:71. doi: 10.1186/1471-2350-13-71. PMID: 22883432 Free PMC Article

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X-linked spasticity-intellectual disability-epilepsy syndrome

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Clinical prediction guides

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Practice guidelines

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