Details of Disease | DrugMAP

General Information of Disease (ID: DISG6Y6W)

Disease Name	Christianson syndrome
Synonyms	intellectual disability X-linked syndromic Christianson type; intellectual disability, X-linked, syndromic, Christianson type; Angelman-like syndrome, X-linked; Angelman-like syndrome X-linked; MRXS Christianson; mental retardation, X-linked, syndromic, Christianson type; intellectual disability microcephaly epilepsy and ataxia syndrome; X-linked intellectual disability - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy; intellectual disability, X-linked syndromic, Christianson type; mental retardation, X-linked syndromic, Christianson type; MRXSCH; intellectual developmental disorder, X-linked syndromic, Christianson type; X-linked intellectual disability, South African type; X-linked Angelman-like syndrome; X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome; intellectual disability, microcephaly, epilepsy, and ataxia syndrome; mental retardation, microcephaly, epilepsy, and ataxia syndrome; Christianson syndrome
Definition	A very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DISG6Y6W: Christianson syndrome
Disease Identifiers	MONDO ID MONDO_0010278 MESH ID C567484 UMLS CUI C2678194 OMIM ID 300243 MedGen ID 394455 Orphanet ID 85278 SNOMED CT ID 702354007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC9A9	DT8LP62	Strong	Biomarker	[1]
SLC9C2	DT2N5HO	Strong	Genetic Variation	[2]
SLC9A6	DTN0JXW	Definitive	X-linked	[3]
SLC9A6	DTN0JXW	Definitive	Genetic Variation	[4]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CNKSR2	OTAGERJ2	Strong	Biomarker	[5]
SLC9A6	OT5N47TC	Definitive	X-linked	[3]
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References

1	The Na(+)(K(+))/H(+) exchanger Nhx1 controls multivesicular body-vacuolar lysosome fusion.Mol Biol Cell. 2018 Feb 1;29(3):317-325. doi: 10.1091/mbc.E17-08-0496. Epub 2017 Dec 6.
2	A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).Epilepsy Res. 2014 May;108(4):811-5. doi: 10.1016/j.eplepsyres.2014.02.009. Epub 2014 Feb 19.
3	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
4	Xq26 duplications lead to undergrowth or overgrowth via competing pathways including GPC3/GPC4.Ann Hum Genet. 2020 Mar;84(2):201-204. doi: 10.1111/ahg.12357. Epub 2019 Oct 3.
5	Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?.Eur J Paediatr Neurol. 2018 Nov;22(6):1124-1132. doi: 10.1016/j.ejpn.2018.07.004. Epub 2018 Jul 21.