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

MCID: CHR174 MIFTS: 40	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 ²⁴ ⁵³ ²⁵ ³⁷ ²⁹ ⁶ ¹⁵

X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome ¹² ⁵³

Mental Retardation, X-Linked, Syndromic, Christianson Type ⁴⁴ ⁷³

X-Linked Intellectual Disability, South African Type ¹² ⁵³

X-Linked Angelman-Like Syndrome ¹² ⁵³

X-Linked Intellectual Disability - Craniofacial Dysmorphism - Epilepsy - Ophthalmoplegia - Cerebellar Atrophy ⁵³

Intellectual Disability Microcephaly Epilepsy and Ataxia Syndrome ⁵³

Mental Retardation, Microcephaly, Epilepsy, and Ataxia Syndrome ¹²

Intellectual Disability X-Linked Syndromic Christianson Type ⁵³

Mental Retardation, X-Linked Syndromic, Christianson Type ¹²

Intellectual Deficit, X-Linked, South African Type ²⁵

Mental Retardation X-Linked, South African Type ⁴⁴

Angelman-Like Syndrome, X-Linked ²⁵

Angelman-Like Syndrome X-Linked ⁵³

Mrxs Christianson ⁵³

Mrxsch ¹²

Characteristics:

HPO:

³²

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

MeSH ⁴⁴ C537450 C567484

KEGG ³⁷ H01914

SNOMED-CT via HPO ⁶⁹ 271611007 109504005 22810007 more

UMLS ⁷³ C1846130 C2678194

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Summaries for Christianson Syndrome

NIH Rare Diseases : ⁵³ 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 pectus excavatum and nystagmus

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 : ²⁵ 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.

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	11.9
2	status epilepticus	10.2
3	alacrima, achalasia, and mental retardation syndrome	10.0
4	retinitis	10.0
5	pitt-hopkins syndrome	9.9	CDKL5 SLC9A6
6	pervasive developmental disorder	9.9	CDKL5 SLC9A9
7	angelman syndrome	9.8	CDKL5 SLC9A6
8	focal epilepsy	9.7	CDKL5 KANSL1
9	microcephaly	9.7	CDKL5 MBD5 SLC9A6
10	autism	9.6	CDKL5 MBD5 SLC9A6 SLC9A9

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:

³² (show all 39)

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

UMLS symptoms related to Christianson Syndrome:

ataxia, ophthalmoplegia, sleep disturbances, ataxia, truncal

MGI Mouse Phenotypes related to Christianson Syndrome:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	9.35	CDKL5 KANSL1 MBD5 SLC9A6 SLC9A9
2	nervous system	MP:0003631	9.02	CDKL5 KANSL1 MBD5 SLC9A6 SLC9A9

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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 ²⁹	SLC9A6

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Anatomical Context for Christianson Syndrome

MalaCards organs/tissues related to Christianson Syndrome:

⁴¹

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 )		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 )		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 )		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 )		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 )		2013
16	Christianson Syndrome: Spectrum of Neuroimaging Findings. ( 24285247 )		2013
17	Christianson syndrome in a patient with an interstitial Xq26.3 deletion. ( 21932316 )		2011
18	Natural history of Christianson syndrome. ( 20949524 )		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	537.97	Pathogenic ⁶ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)	29334451 18342287 19619532 (more) 25044251 10528855 20395263 24123876 27256868
2	SLC9A9	Solute Carrier Family 9 Member A9	Protein Coding	16.52	DISEASES inferred ¹⁵
3	CNKSR2	Connector Enhancer Of Kinase Suppressor Of Ras 2	Protein Coding	15.96	DISEASES inferred ¹⁵
4	CDKL5	Cyclin Dependent Kinase Like 5	Protein Coding	15.39	DISEASES inferred ¹⁵
5	KANSL1	KAT8 Regulatory NSL Complex Subunit 1	Protein Coding	15.38	DISEASES inferred ¹⁵
6	MBD5	Methyl-CpG Binding Domain Protein 5	Protein Coding	15.37	DISEASES inferred ¹⁵

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Variations for Christianson Syndrome

ClinVar genetic disease variations for Christianson Syndrome:

⁶ (show top 50) (show all 89)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	SLC9A6	NM_001042537.1(SLC9A6): c.860_865delAAAGTG (p.Glu287_Ser288del)	deletion	Pathogenic	rs886037619	GRCh38	Chromosome X, 136002174: 136002179
2	SLC9A6	NM_001042537.1(SLC9A6): c.860_865delAAAGTG (p.Glu287_Ser288del)	deletion	Pathogenic	rs886037619	GRCh37	Chromosome X, 135084333: 135084338
3	SLC9A6	NM_006359.2(SLC9A6): c.1402C> T (p.Arg468Ter)	single nucleotide variant	Pathogenic	rs122461162	GRCh37	Chromosome X, 135106524: 135106524
4	SLC9A6	NM_006359.2(SLC9A6): c.1402C> T (p.Arg468Ter)	single nucleotide variant	Pathogenic	rs122461162	GRCh38	Chromosome X, 136024365: 136024365
5	SLC9A6	NM_001042537.1(SLC9A6): c.603+3_603+4delAAinsCC	indel	Pathogenic	rs730882187	GRCh37	Chromosome X, 135080347: 135080348
6	SLC9A6	NM_001042537.1(SLC9A6): c.603+3_603+4delAAinsCC	indel	Pathogenic	rs730882187	GRCh38	Chromosome X, 135998188: 135998189
7	SLC9A6	NM_001042537.1(SLC9A6): c.608_609delAT (p.His203Leufs)	deletion	Pathogenic	rs730882188	GRCh37	Chromosome X, 135080645: 135080646
8	SLC9A6	NM_001042537.1(SLC9A6): c.608_609delAT (p.His203Leufs)	deletion	Pathogenic	rs730882188	GRCh38	Chromosome X, 135998486: 135998487
9	SLC9A6	NM_001042537.1(SLC9A6): c.1012_1020delGGTGCTGCT (p.Gly338_Ala340del)	deletion	Pathogenic	rs398122849	GRCh37	Chromosome X, 135092713: 135092721
10	SLC9A6	NM_001042537.1(SLC9A6): c.1012_1020delGGTGCTGCT (p.Gly338_Ala340del)	deletion	Pathogenic	rs398122849	GRCh38	Chromosome X, 136010554: 136010562
11	SLC9A6	NM_001042537.1(SLC9A6): c.1639G> T (p.Glu547Ter)	single nucleotide variant	Pathogenic	rs398123003	GRCh37	Chromosome X, 135112313: 135112313
12	SLC9A6	NM_001042537.1(SLC9A6): c.1639G> T (p.Glu547Ter)	single nucleotide variant	Pathogenic	rs398123003	GRCh38	Chromosome X, 136030154: 136030154
13	SLC9A6	NM_001042537.1(SLC9A6): c.1616+4A> G	single nucleotide variant	Benign	rs180727016	GRCh37	Chromosome X, 135106646: 135106646
14	SLC9A6	NM_001042537.1(SLC9A6): c.1616+4A> G	single nucleotide variant	Benign	rs180727016	GRCh38	Chromosome X, 136024487: 136024487
15	SLC9A6	NM_006359.2(SLC9A6): c.534T> C (p.Ser178=)	single nucleotide variant	Benign	rs144316388	GRCh37	Chromosome X, 135080667: 135080667
16	SLC9A6	NM_006359.2(SLC9A6): c.534T> C (p.Ser178=)	single nucleotide variant	Benign	rs144316388	GRCh38	Chromosome X, 135998508: 135998508
17	SLC9A6	NM_001042537.1(SLC9A6): c.900-6C> T	single nucleotide variant	Benign	rs17001258	GRCh37	Chromosome X, 135092595: 135092595
18	SLC9A6	NM_001042537.1(SLC9A6): c.900-6C> T	single nucleotide variant	Benign	rs17001258	GRCh38	Chromosome X, 136010436: 136010436
19	SLC9A6	NM_001042537.1(SLC9A6): c.1185A> C (p.Ala395=)	single nucleotide variant	Benign	rs142049079	GRCh37	Chromosome X, 135095545: 135095545
20	SLC9A6	NM_001042537.1(SLC9A6): c.1185A> C (p.Ala395=)	single nucleotide variant	Benign	rs142049079	GRCh38	Chromosome X, 136013386: 136013386
21	SLC9A6	NM_006359.2(SLC9A6): c.1520+10A> G	single nucleotide variant	Benign	rs185533973	GRCh37	Chromosome X, 135106652: 135106652
22	SLC9A6	NM_006359.2(SLC9A6): c.1520+10A> G	single nucleotide variant	Benign	rs185533973	GRCh38	Chromosome X, 136024493: 136024493
23	SLC9A6	NM_001042537.1(SLC9A6): c.1648-3C> T	single nucleotide variant	Benign	rs563279759	GRCh37	Chromosome X, 135115570: 135115570
24	SLC9A6	NM_001042537.1(SLC9A6): c.1648-3C> T	single nucleotide variant	Benign	rs563279759	GRCh38	Chromosome X, 136033411: 136033411
25	SLC9A6	NM_001042537.1(SLC9A6): c.1703G> A (p.Arg568Gln)	single nucleotide variant	Benign/Likely benign	rs146263125	GRCh37	Chromosome X, 135115628: 135115628
26	SLC9A6	NM_001042537.1(SLC9A6): c.1703G> A (p.Arg568Gln)	single nucleotide variant	Benign/Likely benign	rs146263125	GRCh38	Chromosome X, 136033469: 136033469
27	SLC9A6	NM_001042537.1(SLC9A6): c.1728-4G> A	single nucleotide variant	Benign	rs188072063	GRCh37	Chromosome X, 135122231: 135122231
28	SLC9A6	NM_001042537.1(SLC9A6): c.1728-4G> A	single nucleotide variant	Benign	rs188072063	GRCh38	Chromosome X, 136040072: 136040072
29	SLC9A6	NM_001042537.1(SLC9A6): c.1755C> T (p.Ser585=)	single nucleotide variant	Benign/Likely benign	rs2307131	GRCh37	Chromosome X, 135122262: 135122262
30	SLC9A6	NM_001042537.1(SLC9A6): c.1755C> T (p.Ser585=)	single nucleotide variant	Benign/Likely benign	rs2307131	GRCh38	Chromosome X, 136040103: 136040103
31	SLC9A6	NM_001042537.1(SLC9A6): c.25G> T (p.Ala9Ser)	single nucleotide variant	Benign/Likely benign	rs201523857	GRCh37	Chromosome X, 135067686: 135067686
32	SLC9A6	NM_001042537.1(SLC9A6): c.25G> T (p.Ala9Ser)	single nucleotide variant	Benign/Likely benign	rs201523857	GRCh38	Chromosome X, 135985527: 135985527
33	SLC9A6	NM_001042537.1(SLC9A6): c.183delG (p.Lys61Asnfs)	deletion	Pathogenic	rs587784398	GRCh37	Chromosome X, 135067844: 135067844
34	SLC9A6	NM_001042537.1(SLC9A6): c.183delG (p.Lys61Asnfs)	deletion	Pathogenic	rs587784398	GRCh38	Chromosome X, 135985685: 135985685
35	SLC9A6	NM_001042537.1(SLC9A6): c.367C> T (p.Pro123Ser)	single nucleotide variant	Uncertain significance	rs587784400	GRCh37	Chromosome X, 135076986: 135076986
36	SLC9A6	NM_001042537.1(SLC9A6): c.367C> T (p.Pro123Ser)	single nucleotide variant	Uncertain significance	rs587784400	GRCh38	Chromosome X, 135994827: 135994827
37	SLC9A6	NM_001042537.1(SLC9A6): c.412A> G (p.Ser138Gly)	single nucleotide variant	Uncertain significance	rs587784401	GRCh37	Chromosome X, 135077031: 135077031
38	SLC9A6	NM_001042537.1(SLC9A6): c.412A> G (p.Ser138Gly)	single nucleotide variant	Uncertain significance	rs587784401	GRCh38	Chromosome X, 135994872: 135994872
39	SLC9A6	NM_001042537.1(SLC9A6): c.685A> G (p.Ile229Val)	single nucleotide variant	Uncertain significance	rs587784402	GRCh37	Chromosome X, 135081019: 135081019
40	SLC9A6	NM_001042537.1(SLC9A6): c.685A> G (p.Ile229Val)	single nucleotide variant	Uncertain significance	rs587784402	GRCh38	Chromosome X, 135998860: 135998860
41	SLC9A6	NM_001042537.1(SLC9A6): c.2078T> G (p.Leu693Ter)	single nucleotide variant	Pathogenic	rs587784399	GRCh37	Chromosome X, 135126855: 135126855
42	SLC9A6	NM_001042537.1(SLC9A6): c.2078T> G (p.Leu693Ter)	single nucleotide variant	Pathogenic	rs587784399	GRCh38	Chromosome X, 136044696: 136044696
43	SLC9A6	NM_001042537.1(SLC9A6): c.604-1G> A	single nucleotide variant	Pathogenic	rs797044508	GRCh37	Chromosome X, 135080640: 135080640
44	SLC9A6	NM_001042537.1(SLC9A6): c.604-1G> A	single nucleotide variant	Pathogenic	rs797044508	GRCh38	Chromosome X, 135998481: 135998481
45	SLC9A6	NM_006359.2(SLC9A6): c.430-9_430-5delTTTTA	deletion	Conflicting interpretations of pathogenicity	rs796053290	GRCh37	Chromosome X, 135080258: 135080262
46	SLC9A6	NM_006359.2(SLC9A6): c.430-9_430-5delTTTTA	deletion	Conflicting interpretations of pathogenicity	rs796053290	GRCh38	Chromosome X, 135998099: 135998103
47	SLC9A6	NM_006359.2(SLC9A6): c.584+5G> A	single nucleotide variant	Likely pathogenic	rs796053284	GRCh37	Chromosome X, 135080722: 135080722
48	SLC9A6	NM_006359.2(SLC9A6): c.584+5G> A	single nucleotide variant	Likely pathogenic	rs796053284	GRCh38	Chromosome X, 135998563: 135998563
49	SLC9A6	NM_001042537: c.916delC	undetermined variant	Pathogenic
50	SLC9A6	NM_001042537.1(SLC9A6): c.882delT (p.Ala295Profs)	deletion	Pathogenic	rs1057519394	GRCh37	Chromosome X, 135084355: 135084355

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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 ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia