MCID: CHR174
MIFTS: 47

Christianson Syndrome

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Christianson Syndrome

MalaCards integrated aliases for Christianson Syndrome:

Name: Christianson Syndrome 12 25 20 43 36 29 6 15
X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome 12 20
Mental Retardation, X-Linked, Syndromic, Christianson Type 44 71
X-Linked Intellectual Disability, South African Type 12 20
X-Linked Angelman-Like Syndrome 12 20
X-Linked Intellectual Disability - Craniofacial Dysmorphism - Epilepsy - Ophthalmoplegia - Cerebellar Atrophy 20
Intellectual Disability Microcephaly Epilepsy and Ataxia Syndrome 20
Mental Retardation, Microcephaly, Epilepsy, and Ataxia Syndrome 12
Intellectual Disability X-Linked Syndromic Christianson Type 20
Mental Retardation, X-Linked Syndromic, Christianson Type 12
Intellectual Deficit, X-Linked, South African Type 43
Mental Retardation X-Linked, South African Type 44
Angelman-Like Syndrome, X-Linked 43
Angelman-Like Syndrome X-Linked 20
Mrxs Christianson 20
Mrxsch 12

Characteristics:

HPO:

31
christianson syndrome:
Onset and clinical course death in early adulthood


Classifications:



Summaries for Christianson Syndrome

MedlinePlus Genetics : 43 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.Other features seen in many people with Christianson syndrome include a small head size (microcephaly); a long, narrow face with prominent nose, jaw, and ears; an open mouth and uncontrolled drooling; and abnormal eye movements. Affected children often have a happy demeanor with frequent smiling and spontaneous laughter.

MalaCards based summary : Christianson Syndrome, also known as x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome, is related to angelman syndrome and lennox-gastaut syndrome, and has symptoms including ataxia, ophthalmoplegia and sleep disturbances. An important gene associated with Christianson Syndrome is SLC9A6 (Solute Carrier Family 9 Member A6), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Cardiac muscle contraction. Affiliated tissues include eye, cerebellum and brain, 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.

GARD : 20 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.

KEGG : 36 Christianson syndrome (CS) is a rare, X-linked mental retardation syndrome, caused by mutations in SLC9A6. CS is characterized by severe intellectual disability, microcephaly, epilepsy, ataxia, and absent speech. The clinical phenotype of CS mimics Angelman syndrome and CS was initially called X-linked Angelman-like syndrome.

Wikipedia : 74 Christianson syndrome is an X linked syndrome associated with intellectual disability, microcephaly,... more...

GeneReviews: NBK475801

Related Diseases for Christianson Syndrome

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

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 angelman syndrome 30.1 UBE3A SLC9A6 MECP2 CDKL5
2 lennox-gastaut syndrome 29.6 MECP2 FOXG1 CDKL5
3 microcephaly 29.4 UBE3A SLC9A6 MECP2 MBD5 FOXG1 CDKL5
4 west syndrome 29.3 NTRK2 MECP2 FOXG1 CDKL5
5 pervasive developmental disorder 29.3 UBE3A SLC9A9 MECP2 FOXG1 CDKL5
6 alacrima, achalasia, and mental retardation syndrome 29.1 SLC9A6 MECP2 MBD5 KANSL1 FOXG1 EHMT1
7 mental retardation, x-linked, syndromic, christianson type 11.4
8 ataxia and polyneuropathy, adult-onset 10.5
9 generalized epilepsy with febrile seizures plus, type 2 10.3 SLC9A9 SLC9A6
10 cerebral creatine deficiency syndrome 1 10.3 SLC9A7 SLC9A6
11 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 10.2 SLC9A7 SLC9A6
12 status epilepticus 10.2
13 epilepsy with generalized tonic-clonic seizures 10.1 SLC9A6 CDKL5
14 neuroaxonal dystrophy 10.1
15 corticobasal degeneration 10.1
16 lysosomal disease 10.1
17 childhood disintegrative disease 10.1 UBE3A MECP2
18 kearns-sayre syndrome 10.1
19 striatal degeneration, autosomal dominant 2 10.1
20 mutism 10.1
21 encephalopathy 10.1
22 hypotonia 10.1
23 developmental and epileptic encephalopathy 14 10.1 MECP2 CDKL5
24 mecp2 disorders 10.0 MECP2 FOXG1
25 encephalopathy due to defective mitochondrial and peroxisomal fission 1 10.0 MECP2 CDKL5
26 specific developmental disorder 9.9 UBE3A MECP2 CDKL5
27 syndromic intellectual disability 9.9 SLC9A7 SLC9A6 KANSL1 CNKSR2
28 syndromic x-linked intellectual disability 9.9 SLC9A7 SLC9A6 MECP2 CNKSR2
29 gastroesophageal reflux 9.9
30 myopathy, x-linked, with postural muscle atrophy 9.9
31 pain sensitivity quantitative trait locus 1 9.9
32 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 9.9
33 autism spectrum disorder 9.9
34 scoliosis 9.9
35 scapuloperoneal myopathy 9.9
36 neuroretinitis 9.9
37 emery-dreifuss muscular dystrophy 9.9
38 epilepsy 9.9
39 retinitis 9.9
40 myopathy 9.9
41 neuroblastoma 9.9
42 retinal degeneration 9.9
43 learning disability 9.9
44 muscular dystrophy 9.9
45 reducing body myopathy 9.9
46 dysphagia 9.9
47 seizure disorder 9.9
48 spasticity 9.9
49 focal epilepsy 9.9 MECP2 KANSL1 CDKL5
50 gait apraxia 9.9 MECP2 FOXG1 CDKL5

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



Diseases related to Christianson Syndrome

Symptoms & Phenotypes for Christianson Syndrome

Human phenotypes related to Christianson Syndrome:

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

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 10.25 AP1S2 CDKL5 CNKSR2 EHMT1 FOXG1 KANSL1
2 homeostasis/metabolism MP:0005376 10.07 AP1S2 EHMT1 FOXG1 KANSL1 MBD5 MECP2
3 growth/size/body region MP:0005378 10.06 AP1S2 EHMT1 FOXG1 KANSL1 MBD5 MECP2
4 adipose tissue MP:0005375 10.03 AP1S2 EHMT1 MBD5 MECP2 NTRK2 SLC9A5
5 endocrine/exocrine gland MP:0005379 9.97 AP1S2 FOXG1 MBD5 MECP2 NTRK2 SLC9A1
6 integument MP:0010771 9.76 AP1S2 FOXG1 KANSL1 MBD5 MECP2 SLC9A1
7 nervous system MP:0003631 9.73 AP1S2 CDKL5 EHMT1 FOXG1 KANSL1 MBD5
8 vision/eye MP:0005391 9.23 AP1S2 CDKL5 EHMT1 FOXG1 KANSL1 MECP2

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

Genetic Tests for Christianson Syndrome

Genetic tests related to Christianson Syndrome:

# Genetic test Affiliating Genes
1 Christianson Syndrome 29 SLC9A6

Anatomical Context for Christianson Syndrome

MalaCards organs/tissues related to Christianson Syndrome:

40
Eye, Cerebellum, Brain

Publications for Christianson Syndrome

Articles related to Christianson Syndrome:

(show all 50)
# Title Authors PMID Year
1
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome. 25 6 61
27256868 2016
2
Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome. 61 25 6
25044251 2014
3
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. 61 25 6
18342287 2008
4
A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition. 25 6
20395263 2010
5
X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27. 6 25
10528855 1999
6
The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature. 61 25
27142213 2016
7
A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES). 25 61
24630051 2014
8
Christianson syndrome protein NHE6 modulates TrkB endosomal signaling required for neuronal circuit development. 25 61
24035762 2013
9
Novel SLC9A6 mutations in two families with Christianson syndrome. 61 25
22931061 2013
10
Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum. 61 25
22541666 2013
11
Christianson syndrome in a patient with an interstitial Xq26.3 deletion. 25 61
21932316 2011
12
Natural history of Christianson syndrome. 25 61
20949524 2010
13
Dual degradation mechanisms ensure disposal of NHE6 mutant protein associated with neurological disease. 6
19619532 2009
14
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 25
26993267 2016
15
Successful Treatment of Electrographic Status Epilepticus of Sleep With Felbamate in a Patient With SLC9A6 Mutation. 25
26421989 2015
16
Next-generation sequencing in X-linked intellectual disability. 25
25649377 2015
17
A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome. 25
21812100 2011
18
Na+/H+ exchanger isoform 6 (NHE6/SLC9A6) is involved in clathrin-dependent endocytosis of transferrin. 25
21881004 2011
19
Organellar Na+/H+ exchangers: novel players in organelle pH regulation and their emerging functions. 25
21171650 2011
20
Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome. 25
19471312 2009
21
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 25
19377476 2009
22
Four Na+/H+ exchanger isoforms are distributed to Golgi and post-Golgi compartments and are involved in organelle pH regulation. 25
15522866 2005
23
Human neurons from Christianson syndrome iPSCs reveal mutation-specific responses to rescue strategies. 61
33568516 2021
24
Novel c.1505_1509dupCTGCC pathogenic variation in a male case with Christianson syndrome. 61
33278113 2021
25
Novel c.1505_1509dupCTGCC pathogenic variation in a male case with Christianson syndrome. 61
33229925 2020
26
Loss of SLC9A6/NHE6 impairs nociception in a mouse model of Christianson syndrome. 61
32569089 2020
27
Endosomal Acid-Base Homeostasis in Neurodegenerative Diseases. 61
32737755 2020
28
Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome. 61
32277048 2020
29
Xq26 duplications lead to undergrowth or overgrowth via competing pathways including GPC3/GPC4. 61
31583675 2020
30
Epilepsy in Christianson syndrome: Two cases of Lennox-Gastaut syndrome and a review of literature. 61
31879735 2020
31
Pathobiology of Christianson syndrome: Linking disrupted endosomal-lysosomal function with intellectual disability and sensory impairments. 61
29772390 2019
32
Functional Assessment In Vivo of the Mouse Homolog of the Human Ala-9-Ser NHE6 Variant. 61
31676550 2019
33
A Christianson syndrome-linked deletion mutation (Δ287ES288) in SLC9A6 impairs hippocampal neuronal plasticity. 61
31175985 2019
34
Complex Neurological Phenotype in Female Carriers of NHE6 Mutations. 61
31192222 2019
35
A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome. 61
30296617 2019
36
A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome. 61
30937176 2019
37
Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome? 61
30126759 2018
38
Amyloid clearance defect in ApoE4 astrocytes is reversed by epigenetic correction of endosomal pH. 61
29946028 2018
39
The Na+(K+)/H+ exchanger Nhx1 controls multivesicular body-vacuolar lysosome fusion. 61
29212874 2018
40
Christianson Syndrome 61
29334451 2018
41
Syndrome of X linked intellectual disability, epilepsy, progressive brain atrophy and large head associated with SLC9A6 mutation. 61
29275387 2017
42
Mixed Neurodevelopmental and Neurodegenerative Pathology in Nhe6-Null Mouse Model of Christianson Syndrome. 61
29349289 2017
43
A Christianson syndrome-linked deletion mutation (∆(287)ES(288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death. 61
27590723 2016
44
Exonic deletion of SLC9A9 in autism with epilepsy. 61
27123481 2016
45
X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities. 61
26515654 2016
46
Christianson syndrome: spectrum of neuroimaging findings. 61
24285247 2014
47
Genetic disorders associated with postnatal microcephaly. 61
24839169 2014
48
If not Angelman, what is it? A review of Angelman-like syndromes. 61
24779060 2014
49
Inaugural Christianson Syndrome Association conference: families meeting for the first time. 61
25273398 2014
50
X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction. 61
21964919 2011

Variations for Christianson Syndrome

ClinVar genetic disease variations for Christianson Syndrome:

6 (show top 50) (show all 77)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC9A6 NM_006359.3(SLC9A6):c.764_769del (p.Glu255_Ser256del) Deletion Pathogenic 11476 rs886037619 X:135084330-135084335 X:136002171-136002176
2 SLC9A6 NM_006359.3(SLC9A6):c.1402C>T (p.Arg468Ter) SNV Pathogenic 11477 rs122461162 X:135106524-135106524 X:136024365-136024365
3 SLC9A6 NM_006359.3(SLC9A6):c.507+3_507+4delinsCC Indel Pathogenic 11478 rs730882187 X:135080347-135080348 X:135998188-135998189
4 SLC9A6 NM_006359.3(SLC9A6):c.512_513del (p.His171fs) Deletion Pathogenic 11479 rs730882188 X:135080645-135080646 X:135998486-135998487
5 SLC9A6 NM_006359.3(SLC9A6):c.916_924del (p.Gly306_Ala308del) Deletion Pathogenic 29949 rs398122849 X:135092713-135092721 X:136010554-136010562
6 SLC9A6 NM_006359.3(SLC9A6):c.1543G>T (p.Glu515Ter) SNV Pathogenic 92121 rs398123003 X:135112313-135112313 X:136030154-136030154
7 SLC9A6 NM_001042537.1(SLC9A6):c.183del (p.Lys61fs) Deletion Pathogenic 159931 rs587784398 X:135067844-135067844 X:135985685-135985685
8 SLC9A6 NM_001042537.1(SLC9A6):c.2078T>G (p.Leu693Ter) SNV Pathogenic 159932 rs587784399 X:135126855-135126855 X:136044696-136044696
9 SLC9A6 NM_001042537:c.916delC Deletion Pathogenic 246605
10 SLC9A6 NM_006359.3(SLC9A6):c.786del (p.Ala263fs) Deletion Pathogenic 375585 rs1057519394 X:135084354-135084354 X:136002195-136002195
11 SLC9A6 NM_006359.3(SLC9A6):c.478_479AT[1] (p.Phe161fs) Microsatellite Pathogenic 627623 rs1603198063 X:135080315-135080316 X:135998156-135998157
12 SLC9A6 NM_006359.3(SLC9A6):c.1367-1G>A SNV Pathogenic 625179 rs1603215383 X:135106488-135106488 X:136024329-136024329
13 SLC9A6 NM_006359.3(SLC9A6):c.1569_1573del (p.Arg524fs) Deletion Pathogenic 807688 rs1603219805 X:135115588-135115592 X:136033429-136033433
14 SLC9A6 NM_001042537.1(SLC9A6):c.1148G>A (p.Gly383Asp) SNV Pathogenic 813744 rs782108464 X:135095508-135095508 X:136013349-136013349
15 SLC9A6 NM_001379110.1(SLC9A6):c.1246_1249del (p.Leu416fs) Microsatellite Pathogenic 949999 X:135104792-135104795 X:136022633-136022636
16 SLC9A6 NM_001042537.1(SLC9A6):c.1299_1300del (p.Phe434fs) Deletion Likely pathogenic 418996 rs1064793575 X:135098865-135098866 X:136016706-136016707
17 SLC9A6 NM_001042537.1(SLC9A6):c.526-9_526-5del Deletion Likely pathogenic 207248 rs796053290 X:135080254-135080258 X:135998095-135998099
18 SLC9A6 NM_006359.3(SLC9A6):c.751_753CTT[1] (p.Leu252del) Microsatellite Likely pathogenic 804087 rs1603201557 X:135084320-135084322 X:136002161-136002163
19 SLC9A6 NM_006359.3(SLC9A6):c.1376G>A (p.Gly459Asp) SNV Likely pathogenic 577815 rs1569525357 X:135106498-135106498 X:136024339-136024339
20 SLC9A6 NM_006359.3(SLC9A6):c.803+1G>A SNV Likely pathogenic 432837 rs1556617455 X:135084373-135084373 X:136002214-136002214
21 SLC9A6 NM_006359.3(SLC9A6):c.712A>G (p.Ile238Val) SNV Uncertain significance 646158 rs782677140 X:135084281-135084281 X:136002122-136002122
22 SLC9A6 NM_006359.3(SLC9A6):c.453T>G (p.Phe151Leu) SNV Uncertain significance 647660 rs1603198044 X:135080290-135080290 X:135998131-135998131
23 SLC9A6 NM_006359.3(SLC9A6):c.227_244del (p.Ile76_Leu81del) Deletion Uncertain significance 653174 rs1603184929 X:135067881-135067898 X:135985722-135985739
24 SLC9A6 NM_006359.3(SLC9A6):c.543A>G (p.Ala181=) SNV Uncertain significance 656614 rs781961294 X:135080676-135080676 X:135998517-135998517
25 SLC9A6 NM_006359.3(SLC9A6):c.7C>T (p.Arg3Trp) SNV Uncertain significance 657261 rs1556614701 X:135067668-135067668 X:135985509-135985509
26 SLC9A6 NM_006359.3(SLC9A6):c.485A>G (p.Tyr162Cys) SNV Uncertain significance 469636 rs1556616834 X:135080322-135080322 X:135998163-135998163
27 SLC9A6 NM_006359.3(SLC9A6):c.1843A>G (p.Ser615Gly) SNV Uncertain significance 537363 rs558960349 X:135126716-135126716 X:136044557-136044557
28 SLC9A6 NM_006359.3(SLC9A6):c.8G>T (p.Arg3Leu) SNV Uncertain significance 572609 rs1016216648 X:135067669-135067669 X:135985510-135985510
29 SLC9A6 NM_006359.3(SLC9A6):c.619G>A (p.Val207Ile) SNV Uncertain significance 575064 rs1556616995 X:135081049-135081049 X:135998890-135998890
30 SLC9A6 NM_006359.3(SLC9A6):c.362A>G (p.His121Arg) SNV Uncertain significance 409978 rs1060502675 X:135076981-135076981 X:135994822-135994822
31 SLC9A6 NM_006359.3(SLC9A6):c.1488C>T (p.Gly496=) SNV Uncertain significance 469634 rs782370742 X:135106610-135106610 X:136024451-136024451
32 SLC9A6 NM_006359.3(SLC9A6):c.946G>A (p.Val316Met) SNV Uncertain significance 469638 rs1556618832 X:135095108-135095108 X:136012949-136012949
33 SLC9A6 NM_006359.3(SLC9A6):c.269T>C (p.Leu90Pro) SNV Uncertain significance 469635 rs1556614843 X:135067930-135067930 X:135985771-135985771
34 SLC9A6 NM_001042537.1(SLC9A6):c.367C>T (p.Pro123Ser) SNV Uncertain significance 159934 rs587784400 X:135076986-135076986 X:135994827-135994827
35 SLC9A6 NM_006359.3(SLC9A6):c.412A>G (p.Ser138Gly) SNV Uncertain significance 159935 rs587784401 X:135077031-135077031 X:135994872-135994872
36 SLC9A6 NM_001042537.1(SLC9A6):c.685A>G (p.Ile229Val) SNV Uncertain significance 159936 rs587784402 X:135081019-135081019 X:135998860-135998860
37 SLC9A6 NM_006359.3(SLC9A6):c.584+3A>G SNV Uncertain significance 805479 rs372679456 X:135080720-135080720 X:135998561-135998561
38 SLC9A6 NM_001379110.1(SLC9A6):c.-56-21C>A SNV Uncertain significance 940098 X:135067741-135067741 X:135985582-135985582
39 SLC9A6 NM_001379110.1(SLC9A6):c.548C>T (p.Thr183Met) SNV Uncertain significance 942247 X:135081038-135081038 X:135998879-135998879
40 SLC9A6 NM_001379110.1(SLC9A6):c.1555G>A (p.Gly519Ser) SNV Uncertain significance 943113 X:135112295-135112295 X:136030136-136030136
41 SLC9A6 NM_001379110.1(SLC9A6):c.1996C>T (p.Pro666Ser) SNV Uncertain significance 945766 X:135126839-135126839 X:136044680-136044680
42 SLC9A6 NC_000023.11:g.(?_135985483)_(136024503_?)dup Duplication Uncertain significance 831697 X:135067642-135106662
43 SLC9A6 NM_006359.3(SLC9A6):c.1904T>G (p.Phe635Cys) SNV Uncertain significance 834464 X:135126777-135126777 X:136044618-136044618
44 SLC9A6 NM_006359.3(SLC9A6):c.547G>A (p.Ala183Thr) SNV Uncertain significance 207239 rs796053281 X:135080680-135080680 X:135998521-135998521
45 SLC9A6 NM_006359.3(SLC9A6):c.1A>G (p.Met1Val) SNV Uncertain significance 853911 X:135067662-135067662 X:135985503-135985503
46 SLC9A6 NM_001379110.1(SLC9A6):c.506T>A (p.Ile169Asn) SNV Uncertain significance 988715 X:135080699-135080699 X:135998540-135998540
47 SLC9A6 NM_001379110.1(SLC9A6):c.821T>C (p.Ile274Thr) SNV Uncertain significance 988730 X:135092678-135092678 X:136010519-136010519
48 SLC9A6 NM_001379110.1(SLC9A6):c.971C>T (p.Ala324Val) SNV Uncertain significance 950702 X:135095193-135095193 X:136013034-136013034
49 SLC9A6 NM_001379110.1(SLC9A6):c.1582G>A (p.Gly528Ser) SNV Uncertain significance 951462 X:135115573-135115573 X:136033414-136033414
50 SLC9A6 NM_006359.3(SLC9A6):c.508A>G (p.Arg170Gly) SNV Uncertain significance 207238 rs796053280 X:135080641-135080641 X:135998482-135998482

Expression for Christianson Syndrome

Search GEO for disease gene expression data for Christianson Syndrome.

Pathways for Christianson Syndrome

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 8.8 SLC9A9 SLC9A7 SLC9A6

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.97 SLC9A9 SLC9A8 SLC9A7 SLC9A6 SLC9A5 SLC9A1
2 transmembrane transport GO:0055085 9.95 SLC9A9 SLC9A8 SLC9A7 SLC9A6 SLC9A5 SLC9A1
3 potassium ion transmembrane transport GO:0071805 9.93 SLC9A9 SLC9A8 SLC9A7 SLC9A6 SLC9A5 SLC9A1
4 sodium ion transport GO:0006814 9.91 SLC9A9 SLC9A8 SLC9A7 SLC9A6 SLC9A5 SLC9A1
5 proton transmembrane transport GO:1902600 9.88 SLC9A9 SLC9A8 SLC9A7 SLC9A6 SLC9A5 SLC9A1
6 sodium ion transmembrane transport GO:0035725 9.85 SLC9A9 SLC9A8 SLC9A7 SLC9A6 SLC9A5 SLC9A1
7 cation transport GO:0006812 9.8 SLC9A9 SLC9A8 SLC9A7 SLC9A6 SLC9A5 SLC9A1
8 anion transmembrane transport GO:0098656 9.73 SLC9A9 SLC9A8 SLC9A7 SLC9A6 SLC9A5 SLC9A1
9 sodium ion import across plasma membrane GO:0098719 9.55 SLC9A9 SLC9A7 SLC9A6 SLC9A5 SLC9A1
10 central nervous system neuron development GO:0021954 9.54 NTRK2 FOXG1
11 histone methylation GO:0016571 9.52 MECP2 EHMT1
12 cellular response to brain-derived neurotrophic factor stimulus GO:1990416 9.51 UBE3A NTRK2
13 regulation of intracellular pH GO:0051453 9.43 SLC9A9 SLC9A8 SLC9A7 SLC9A6 SLC9A5 SLC9A1
14 regulation of pH GO:0006885 9.1 SLC9A9 SLC9A8 SLC9A7 SLC9A6 SLC9A5 SLC9A1

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

# Name GO ID Score Top Affiliating Genes
1 antiporter activity GO:0015297 9.73 SLC9A9 SLC9A8 SLC9A7 SLC9A6 SLC9A5 SLC9A1
2 solute:proton antiporter activity GO:0015299 9.63 SLC9A9 SLC9A8 SLC9A7 SLC9A6 SLC9A5 SLC9A1
3 potassium:proton antiporter activity GO:0015386 9.43 SLC9A9 SLC9A8 SLC9A7 SLC9A6 SLC9A5 SLC9A1
4 sodium:proton antiporter activity GO:0015385 9.1 SLC9A9 SLC9A8 SLC9A7 SLC9A6 SLC9A5 SLC9A1

Sources for Christianson Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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