Christianson Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CHR174 MIFTS: 38	Christianson Syndrome Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Christianson Syndrome

MalaCards integrated aliases for Christianson Syndrome:

Name: Christianson Syndrome ¹² ²⁵ ⁵⁴ ²⁶ ³⁸ ³⁰ ⁶ ¹⁵

X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome ¹² ⁵⁴

Mental Retardation, X-Linked, Syndromic, Christianson Type ⁴⁵ ⁷⁴

X-Linked Intellectual Disability, South African Type ¹² ⁵⁴

X-Linked Angelman-Like Syndrome ¹² ⁵⁴

X-Linked Intellectual Disability - Craniofacial Dysmorphism - Epilepsy - Ophthalmoplegia - Cerebellar Atrophy ⁵⁴

Intellectual Disability Microcephaly Epilepsy and Ataxia Syndrome ⁵⁴

Mental Retardation, Microcephaly, Epilepsy, and Ataxia Syndrome ¹²

Intellectual Disability X-Linked Syndromic Christianson Type ⁵⁴

Mental Retardation, X-Linked Syndromic, Christianson Type ¹²

Intellectual Deficit, X-Linked, South African Type ²⁶

Mental Retardation X-Linked, South African Type ⁴⁵

Angelman-Like Syndrome, X-Linked ²⁶

Angelman-Like Syndrome X-Linked ⁵⁴

Mrxs Christianson ⁵⁴

Mrxsch ¹²

Characteristics:

HPO:

³³

christianson syndrome:
Mortality/Aging death in early adulthood

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Mental diseases Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060825

KEGG ³⁸ H01914

MeSH ⁴⁵ C537450 C567484

SNOMED-CT via HPO ⁷⁰ 109504005 111246005 128274005 more

UMLS ⁷⁴ C1846130 C2678194

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Summaries for Christianson Syndrome

NIH Rare Diseases : ⁵⁴ Christianson syndrome is an X-linked syndrome associated with intellectual disability, microcephaly, seizures, ataxia, and absent speech. Many individuals with this condition have a happy demeanor with frequent smiling and unprovoked laughter, similar to those with Angelman syndrome. Christianson syndrome is caused by mutations in the SLC9A6 gene, which is located within the q24-q27 interval of the X chromosome. There appears to be a range of phenotypes in carrier females, from intellectual disability to absence of symptoms.

MalaCards based summary : Christianson Syndrome, also known as x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome, is related to mental retardation, x-linked, syndromic, christianson type and status epilepticus, and has symptoms including ataxia, ophthalmoplegia and sleep disturbances. An important gene associated with Christianson Syndrome is SLC9A6 (Solute Carrier Family 9 Member A6). Affiliated tissues include eye and cerebellum, and related phenotypes are developmental regression and macrotia

Disease Ontology : ¹² A syndromic X-linked intellectual disability characterized by severe developmental delay, intellectual disability, microcephaly, impaired speech, ataxia, hypotonia and early-onset seizures that has material basis in mutation in the SLC9A6 gene on chromosome Xq26.

Genetics Home Reference : ²⁶ Christianson syndrome is a disorder that primarily affects the nervous system. This condition becomes apparent in infancy. Its characteristic features include delayed development, intellectual disability, an inability to speak, problems with balance and coordination (ataxia), and difficulty standing or walking. Individuals who do learn to walk lose the ability in childhood. Most affected children also have recurrent seizures (epilepsy), beginning between ages 1 and 2.

Wikipedia : ⁷⁷ Christianson syndrome is an X linked syndrome associated with intellectual disability, microcephaly,... more...

GeneReviews: NBK475801

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Related Diseases for Christianson Syndrome

Diseases related to Christianson Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	mental retardation, x-linked, syndromic, christianson type	12.0
2	status epilepticus	10.2
3	alacrima, achalasia, and mental retardation syndrome	10.1
4	retinitis	10.1
5	pitt-hopkins syndrome	9.7	CDKL5 SLC9A6
6	pervasive developmental disorder	9.7	CDKL5 SLC9A9
7	focal epilepsy	9.6	CDKL5 KANSL1
8	angelman syndrome	9.5	CDKL5 SLC9A6

Graphical network of the top 20 diseases related to Christianson Syndrome:

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Symptoms & Phenotypes for Christianson Syndrome

Human phenotypes related to Christianson Syndrome:

³³ (show all 39)

#	Description	HPO Frequency	HPO Source Accession
1	developmental regression ³³	hallmark (90%)	HP:0002376
2	macrotia ³³	hallmark (90%)	HP:0000400
3	thick eyebrow ³³	hallmark (90%)	HP:0000574
4	strabismus ³³	hallmark (90%)	HP:0000486
5	severe global developmental delay ³³	hallmark (90%)	HP:0011344
6	absent speech ³³	hallmark (90%)	HP:0001344
7	cachexia ³³	hallmark (90%)	HP:0004326
8	aplasia/hypoplasia of the cerebellum ³³	hallmark (90%)	HP:0007360
9	narrow face ³³	hallmark (90%)	HP:0000275
10	long face ³³	hallmark (90%)	HP:0000276
11	intellectual disability, profound ³³	hallmark (90%)	HP:0002187
12	truncal ataxia ³³	hallmark (90%)	HP:0002078
13	cerebellar atrophy ³³	hallmark (90%)	HP:0001272
14	neuronal loss in central nervous system ³³	hallmark (90%)	HP:0002529
15	generalized-onset seizure ³³	hallmark (90%)	HP:0002197
16	pectus excavatum ³³	frequent (33%)	HP:0000767
17	nystagmus ³³	frequent (33%)	HP:0000639
18	dysphagia ³³	frequent (33%)	HP:0002015
19	microcephaly ³³	frequent (33%)	HP:0000252
20	gastroesophageal reflux ³³	frequent (33%)	HP:0002020
21	feeding difficulties in infancy ³³	frequent (33%)	HP:0008872
22	stereotypy ³³	frequent (33%)	HP:0000733
23	autism ³³	frequent (33%)	HP:0000717
24	gait ataxia ³³	frequent (33%)	HP:0002066
25	dystonia ³³	frequent (33%)	HP:0001332
26	ventriculomegaly ³³	frequent (33%)	HP:0002119
27	cerebral cortical atrophy ³³	frequent (33%)	HP:0002120
28	ophthalmoplegia ³³	frequent (33%)	HP:0000602
29	adducted thumb ³³	frequent (33%)	HP:0001181
30	aplasia/hypoplasia of the corpus callosum ³³	frequent (33%)	HP:0007370
31	conspicuously happy disposition ³³	frequent (33%)	HP:0100024
32	mutism ³³	frequent (33%)	HP:0002300
33	inappropriate laughter ³³	frequent (33%)	HP:0000748
34	mandibular prognathia ³³	occasional (7.5%)	HP:0000303
35	decreased muscle mass ³³	occasional (7.5%)	HP:0003199
36	joint hyperflexibility ³³	occasional (7.5%)	HP:0005692
37	arthrogryposis multiplex congenita ³³	occasional (7.5%)	HP:0002804
38	deeply set eye ³³	occasional (7.5%)	HP:0000490
39	abnormality of the nose ³³	occasional (7.5%)	HP:0000366

UMLS symptoms related to Christianson Syndrome:

ataxia, ophthalmoplegia, sleep disturbances, ataxia, truncal

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Drugs & Therapeutics for Christianson Syndrome

Search Clinical Trials , NIH Clinical Center for Christianson Syndrome

Cochrane evidence based reviews: mental retardation, x-linked, syndromic, christianson type

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Genetic Tests for Christianson Syndrome

Genetic tests related to Christianson Syndrome:

#	Genetic test	Affiliating Genes
1	Christianson Syndrome ³⁰	SLC9A6

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Anatomical Context for Christianson Syndrome

MalaCards organs/tissues related to Christianson Syndrome:

⁴²

Eye, Cerebellum

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Publications for Christianson Syndrome

Articles related to Christianson Syndrome:

(show all 19)

#	Title	Authors	Year
1	A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome. ( 30296617 )	Ilie A...Orlowski J	2019
2	Pathobiology of Christianson syndrome: Linking disrupted endosomal-lysosomal function with intellectual disability and sensory impairments. ( 29772390 )	Kerner-Rossi M....Dobrenis K.	2018
3	Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome? ( 30126759 )	Mathieu ML...Lesca G	2018
4	Mixed Neurodevelopmental and Neurodegenerative Pathology in<i>Nhe6</i>-Null Mouse Model of Christianson Syndrome. ( 29349289 )	Xu M....Morrow E.M.	2017
5	A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome. ( 27256868 )	Masurel-Paulet A....Faivre L.	2016
6	A Christianson syndrome-linked deletion mutation (a88(287)ES(288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death. ( 27590723 )	Ilie A....Orlowski J.	2016
7	X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities. ( 26515654 )	Sikora J....Walkley S.U.	2015
8	Novel endosomal mechanisms in human axonal growth mediated by Christianson syndrome protein NHE6. ( 26531385 )	Morrow E.M....Ouyang Q.	2015
9	REMOVED: Novel endosomal mechanisms in human axonal growth mediated by Christianson syndrome protein NHE6. ( 29887063 )	Morrow E.M....Ouyang Q.	2015
10	Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome. ( 25044251 )	Pescosolido M.F....Morrow E.M.	2014
11	Inaugural Christianson Syndrome Association conference: families meeting for the first time. ( 25273398 )	Stein D.M....Morrow E.M.	2014
12	A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES). ( 24630051 )	Zanni G....Bertini E.	2014
13	Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum. ( 22541666 )	Mignot C....Burglen L.	2013
14	Christianson syndrome protein NHE6 modulates TrkB endosomal signaling required for neuronal circuit development. ( 24035762 )	Ouyang Q....Morrow E.M.	2013
15	Novel SLC9A6 mutations in two families with Christianson syndrome. ( 22931061 )	Riess A....Tzschach A.	2013
16	Christianson Syndrome: Spectrum of Neuroimaging Findings. ( 24285247 )	Bosemani T....Poretti A.	2013
17	Christianson syndrome in a patient with an interstitial Xq26.3 deletion. ( 21932316 )	Tzschach A....Oehl-Jaschkowitz B.	2011
18	Natural history of Christianson syndrome. ( 20949524 )	Schroer R.J....Schwartz C.E.	2010
19	Christianson Syndrome ( 29334451 )	Adam M.P....Amemiya A.	1993

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Genes for Christianson Syndrome

Genes related to Christianson Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SLC9A6	Solute Carrier Family 9 Member A6	Protein Coding	538.09	Pathogenic ⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)	18342287 19619532 29334451 (more) 25044251 10528855 20395263 24123876 27256868
2	SLC9A9	Solute Carrier Family 9 Member A9	Protein Coding	16.54	DISEASES inferred ¹⁵
3	CNKSR2	Connector Enhancer Of Kinase Suppressor Of Ras 2	Protein Coding	16	DISEASES inferred ¹⁵
4	CDKL5	Cyclin Dependent Kinase Like 5	Protein Coding	15.42	DISEASES inferred ¹⁵
5	KANSL1	KAT8 Regulatory NSL Complex Subunit 1	Protein Coding	15.39	DISEASES inferred ¹⁵

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Variations for Christianson Syndrome

ClinVar genetic disease variations for Christianson Syndrome:

⁶ (show top 50) (show all 85)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	SLC9A6	NM_001042537.1(SLC9A6): c.25G> T (p.Ala9Ser)	single nucleotide variant	Benign/Likely benign	rs201523857	GRCh37	Chromosome X, 135067686: 135067686
2	SLC9A6	NM_001042537.1(SLC9A6): c.25G> T (p.Ala9Ser)	single nucleotide variant	Benign/Likely benign	rs201523857	GRCh38	Chromosome X, 135985527: 135985527
3	SLC9A6	NM_001042537.1(SLC9A6): c.183del (p.Lys61Asnfs)	deletion	Pathogenic	rs587784398	GRCh37	Chromosome X, 135067844: 135067844
4	SLC9A6	NM_001042537.1(SLC9A6): c.183del (p.Lys61Asnfs)	deletion	Pathogenic	rs587784398	GRCh38	Chromosome X, 135985685: 135985685
5	SLC9A6	NM_001042537.1(SLC9A6): c.367C> T (p.Pro123Ser)	single nucleotide variant	Uncertain significance	rs587784400	GRCh37	Chromosome X, 135076986: 135076986
6	SLC9A6	NM_001042537.1(SLC9A6): c.367C> T (p.Pro123Ser)	single nucleotide variant	Uncertain significance	rs587784400	GRCh38	Chromosome X, 135994827: 135994827
7	SLC9A6	NM_001042537.1(SLC9A6): c.412A> G (p.Ser138Gly)	single nucleotide variant	Uncertain significance	rs587784401	GRCh37	Chromosome X, 135077031: 135077031
8	SLC9A6	NM_001042537.1(SLC9A6): c.412A> G (p.Ser138Gly)	single nucleotide variant	Uncertain significance	rs587784401	GRCh38	Chromosome X, 135994872: 135994872
9	SLC9A6	NM_001042537.1(SLC9A6): c.685A> G (p.Ile229Val)	single nucleotide variant	Uncertain significance	rs587784402	GRCh37	Chromosome X, 135081019: 135081019
10	SLC9A6	NM_001042537.1(SLC9A6): c.685A> G (p.Ile229Val)	single nucleotide variant	Uncertain significance	rs587784402	GRCh38	Chromosome X, 135998860: 135998860
11	SLC9A6	NM_001042537.1(SLC9A6): c.2078T> G (p.Leu693Ter)	single nucleotide variant	Pathogenic	rs587784399	GRCh37	Chromosome X, 135126855: 135126855
12	SLC9A6	NM_001042537.1(SLC9A6): c.2078T> G (p.Leu693Ter)	single nucleotide variant	Pathogenic	rs587784399	GRCh38	Chromosome X, 136044696: 136044696
13	SLC9A6	NM_006359.2(SLC9A6): c.430-9_430-5delTTTTA	deletion	Conflicting interpretations of pathogenicity	rs796053290	GRCh37	Chromosome X, 135080258: 135080262
14	SLC9A6	NM_006359.2(SLC9A6): c.430-9_430-5delTTTTA	deletion	Conflicting interpretations of pathogenicity	rs796053290	GRCh38	Chromosome X, 135998099: 135998103
15	SLC9A6	NM_006359.2(SLC9A6): c.764_769delAAAGTG (p.Glu255_Ser256del)	deletion	Pathogenic	rs886037619	GRCh38	Chromosome X, 136002174: 136002179
16	SLC9A6	NM_006359.2(SLC9A6): c.764_769delAAAGTG (p.Glu255_Ser256del)	deletion	Pathogenic	rs886037619	GRCh37	Chromosome X, 135084333: 135084338
17	SLC9A6	NM_006359.2(SLC9A6): c.1402C> T (p.Arg468Ter)	single nucleotide variant	Pathogenic	rs122461162	GRCh37	Chromosome X, 135106524: 135106524
18	SLC9A6	NM_006359.2(SLC9A6): c.1402C> T (p.Arg468Ter)	single nucleotide variant	Pathogenic	rs122461162	GRCh38	Chromosome X, 136024365: 136024365
19	SLC9A6	NM_001042537.1(SLC9A6): c.603+3_603+4delAAinsCC	indel	Pathogenic	rs730882187	GRCh37	Chromosome X, 135080347: 135080348
20	SLC9A6	NM_001042537.1(SLC9A6): c.603+3_603+4delAAinsCC	indel	Pathogenic	rs730882187	GRCh38	Chromosome X, 135998188: 135998189
21	SLC9A6	NM_001042537.1(SLC9A6): c.608_609delAT (p.His203Leufs)	deletion	Pathogenic	rs730882188	GRCh37	Chromosome X, 135080645: 135080646
22	SLC9A6	NM_001042537.1(SLC9A6): c.608_609delAT (p.His203Leufs)	deletion	Pathogenic	rs730882188	GRCh38	Chromosome X, 135998486: 135998487
23	SLC9A6	NM_001042537.1(SLC9A6): c.1012_1020delGGTGCTGCT (p.Gly338_Ala340del)	deletion	Pathogenic	rs398122849	GRCh37	Chromosome X, 135092713: 135092721
24	SLC9A6	NM_001042537.1(SLC9A6): c.1012_1020delGGTGCTGCT (p.Gly338_Ala340del)	deletion	Pathogenic	rs398122849	GRCh38	Chromosome X, 136010554: 136010562
25	SLC9A6	NM_001042537.1(SLC9A6): c.1639G> T (p.Glu547Ter)	single nucleotide variant	Pathogenic	rs398123003	GRCh37	Chromosome X, 135112313: 135112313
26	SLC9A6	NM_001042537.1(SLC9A6): c.1639G> T (p.Glu547Ter)	single nucleotide variant	Pathogenic	rs398123003	GRCh38	Chromosome X, 136030154: 136030154
27	SLC9A6	NM_001042537.1(SLC9A6): c.1616+4A> G	single nucleotide variant	Benign	rs180727016	GRCh37	Chromosome X, 135106646: 135106646
28	SLC9A6	NM_001042537.1(SLC9A6): c.1616+4A> G	single nucleotide variant	Benign	rs180727016	GRCh38	Chromosome X, 136024487: 136024487
29	SLC9A6	NM_006359.2(SLC9A6): c.534T> C (p.Ser178=)	single nucleotide variant	Benign	rs144316388	GRCh37	Chromosome X, 135080667: 135080667
30	SLC9A6	NM_006359.2(SLC9A6): c.534T> C (p.Ser178=)	single nucleotide variant	Benign	rs144316388	GRCh38	Chromosome X, 135998508: 135998508
31	SLC9A6	NM_001042537.1(SLC9A6): c.900-6C> T	single nucleotide variant	Benign	rs17001258	GRCh37	Chromosome X, 135092595: 135092595
32	SLC9A6	NM_001042537.1(SLC9A6): c.900-6C> T	single nucleotide variant	Benign	rs17001258	GRCh38	Chromosome X, 136010436: 136010436
33	SLC9A6	NM_001042537.1(SLC9A6): c.1185A> C (p.Ala395=)	single nucleotide variant	Benign	rs142049079	GRCh37	Chromosome X, 135095545: 135095545
34	SLC9A6	NM_001042537.1(SLC9A6): c.1185A> C (p.Ala395=)	single nucleotide variant	Benign	rs142049079	GRCh38	Chromosome X, 136013386: 136013386
35	SLC9A6	NM_006359.2(SLC9A6): c.1520+10A> G	single nucleotide variant	Benign	rs185533973	GRCh37	Chromosome X, 135106652: 135106652
36	SLC9A6	NM_006359.2(SLC9A6): c.1520+10A> G	single nucleotide variant	Benign	rs185533973	GRCh38	Chromosome X, 136024493: 136024493
37	SLC9A6	NM_001042537.1(SLC9A6): c.1648-3C> T	single nucleotide variant	Benign	rs563279759	GRCh37	Chromosome X, 135115570: 135115570
38	SLC9A6	NM_001042537.1(SLC9A6): c.1648-3C> T	single nucleotide variant	Benign	rs563279759	GRCh38	Chromosome X, 136033411: 136033411
39	SLC9A6	NM_001042537.1(SLC9A6): c.1703G> A (p.Arg568Gln)	single nucleotide variant	Benign/Likely benign	rs146263125	GRCh37	Chromosome X, 135115628: 135115628
40	SLC9A6	NM_001042537.1(SLC9A6): c.1703G> A (p.Arg568Gln)	single nucleotide variant	Benign/Likely benign	rs146263125	GRCh38	Chromosome X, 136033469: 136033469
41	SLC9A6	NM_001042537.1(SLC9A6): c.1728-4G> A	single nucleotide variant	Benign	rs188072063	GRCh37	Chromosome X, 135122231: 135122231
42	SLC9A6	NM_001042537.1(SLC9A6): c.1728-4G> A	single nucleotide variant	Benign	rs188072063	GRCh38	Chromosome X, 136040072: 136040072
43	SLC9A6	NM_001042537.1(SLC9A6): c.1755C> T (p.Ser585=)	single nucleotide variant	Benign/Likely benign	rs2307131	GRCh37	Chromosome X, 135122262: 135122262
44	SLC9A6	NM_001042537.1(SLC9A6): c.1755C> T (p.Ser585=)	single nucleotide variant	Benign/Likely benign	rs2307131	GRCh38	Chromosome X, 136040103: 136040103
45	SLC9A6	NM_001042537: c.916delC	undetermined variant	Pathogenic
46	SLC9A6	NM_001042537.1(SLC9A6): c.882delT (p.Ala295Profs)	deletion	Pathogenic	rs1057519394	GRCh37	Chromosome X, 135084355: 135084355
47	SLC9A6	NM_001042537.1(SLC9A6): c.882delT (p.Ala295Profs)	deletion	Pathogenic	rs1057519394	GRCh38	Chromosome X, 136002196: 136002196
48	SLC9A6	NM_006359.2(SLC9A6): c.171C> G (p.Ile57Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs782296172	GRCh37	Chromosome X, 135067832: 135067832
49	SLC9A6	NM_006359.2(SLC9A6): c.171C> G (p.Ile57Met)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs782296172	GRCh38	Chromosome X, 135985673: 135985673
50	SLC9A6	NM_006359.2(SLC9A6): c.153A> G (p.Arg51=)	single nucleotide variant	Benign/Likely benign	rs782090744	GRCh37	Chromosome X, 135067814: 135067814

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Expression for Christianson Syndrome

Search GEO for disease gene expression data for Christianson Syndrome.

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Pathways for Christianson Syndrome

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GO Terms for Christianson Syndrome

Cellular components related to Christianson Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	recycling endosome	GO:0055037	8.62	SLC9A6 SLC9A9

Biological processes related to Christianson Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	sodium ion transport	GO:0006814	9.43	SLC9A6 SLC9A9
2	potassium ion transmembrane transport	GO:0071805	9.4	SLC9A6 SLC9A9
3	proton transmembrane transport	GO:1902600	9.37	SLC9A6 SLC9A9
4	cation transport	GO:0006812	9.32	SLC9A6 SLC9A9
5	sodium ion transmembrane transport	GO:0035725	9.26	SLC9A6 SLC9A9
6	regulation of intracellular pH	GO:0051453	9.16	SLC9A6 SLC9A9
7	regulation of pH	GO:0006885	8.96	SLC9A6 SLC9A9
8	sodium ion import across plasma membrane	GO:0098719	8.62	SLC9A6 SLC9A9

Molecular functions related to Christianson Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	antiporter activity	GO:0015297	9.26	SLC9A6 SLC9A9
2	solute:proton antiporter activity	GO:0015299	9.16	SLC9A6 SLC9A9
3	sodium:proton antiporter activity	GO:0015385	8.96	SLC9A6 SLC9A9
4	potassium:proton antiporter activity	GO:0015386	8.62	SLC9A6 SLC9A9

Sources

Sources for Christianson Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia