MCID: CHR174
MIFTS: 46

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 24 52 25 36 29 6 15
X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome 12 52
X-Linked Intellectual Disability, South African Type 12 52
X-Linked Angelman-Like Syndrome 12 52
X-Linked Intellectual Disability - Craniofacial Dysmorphism - Epilepsy - Ophthalmoplegia - Cerebellar Atrophy 52
Intellectual Disability Microcephaly Epilepsy and Ataxia Syndrome 52
Mental Retardation, Microcephaly, Epilepsy, and Ataxia Syndrome 12
Intellectual Disability X-Linked Syndromic Christianson Type 52
Mental Retardation, X-Linked, Syndromic, Christianson Type 71
Mental Retardation, X-Linked Syndromic, Christianson Type 12
Intellectual Deficit, X-Linked, South African Type 25
Angelman-Like Syndrome, X-Linked 25
Angelman-Like Syndrome X-Linked 52
Mrxs Christianson 52
Mrxsch 12

Characteristics:

HPO:

31
christianson syndrome:
Clinical modifier death in early adulthood


Classifications:



Summaries for Christianson Syndrome

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. 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 alacrima, achalasia, and mental retardation syndrome and angelman 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 macrotia and thick eyebrow

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.

NIH Rare Diseases : 52 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 65)
# Related Disease Score Top Affiliating Genes
1 alacrima, achalasia, and mental retardation syndrome 30.2 UBE3A SLC9A6 MECP2 EHMT1
2 angelman syndrome 30.1 UBE3A SLC9A7 SLC9A6 MECP2 CDKL5
3 visual epilepsy 29.8 UBE3A SLC9A6 MECP2 CDKL5
4 lennox-gastaut syndrome 29.2 MECP2 FOXG1 CDKL5 ALG13
5 microcephaly 29.1 UBE3A SLC9A6 MECP2 MBD5 FOXG1 CDKL5
6 west syndrome 28.7 NTRK2 MECP2 FOXG1 CDKL5 ALG13
7 pervasive developmental disorder 27.5 UBE3A SLC9A9 SLC9A6 NTRK2 MECP2 MBD5
8 mental retardation, x-linked, syndromic, christianson type 12.1
9 ataxia and polyneuropathy, adult-onset 10.5
10 epileptic encephalopathy, childhood-onset 10.3 SLC9A7 SLC9A6
11 cerebral creatine deficiency syndrome 1 10.3 SLC9A7 SLC9A6
12 status epilepticus 10.3
13 encephalopathy 10.3
14 epilepsy with generalized tonic-clonic seizures 10.2 SLC9A6 CDKL5
15 neuroaxonal dystrophy 10.2
16 corticobasal degeneration 10.2
17 lysosomal disease 10.2
18 kearns-sayre syndrome 10.2
19 striatal degeneration, autosomal dominant 2 10.2
20 mutism 10.2
21 hypotonia 10.2
22 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 10.2 SLC9A7 SLC9A6
23 epileptic encephalopathy, early infantile, 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 gastroesophageal reflux 10.0
27 myopathy, x-linked, with postural muscle atrophy 10.0
28 pain sensitivity quantitative trait locus 1 10.0
29 autism spectrum disorder 10.0
30 scoliosis 10.0
31 scapuloperoneal myopathy 10.0
32 reducing body myopathy 1a 10.0
33 neuroretinitis 10.0
34 emery-dreifuss muscular dystrophy 10.0
35 epilepsy 10.0
36 retinitis 10.0
37 myopathy 10.0
38 retinal degeneration 10.0
39 learning disability 10.0
40 muscular dystrophy 10.0
41 reducing body myopathy 10.0
42 dysphagia 10.0
43 seizure disorder 10.0
44 spasticity 10.0
45 autosomal dominant non-syndromic intellectual disability 32 10.0 MECP2 FOXG1
46 specific developmental disorder 9.9 UBE3A MECP2 CDKL5
47 syndromic x-linked intellectual disability 9.9 SLC9A7 SLC9A6 MECP2 CNKSR2
48 gait apraxia 9.9 MECP2 FOXG1 CDKL5
49 bruxism 9.8 MECP2 FOXG1 CDKL5
50 epileptic encephalopathy, early infantile, 6 9.8 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 macrotia 31 hallmark (90%) HP:0000400
2 thick eyebrow 31 hallmark (90%) HP:0000574
3 developmental regression 31 hallmark (90%) HP:0002376
4 strabismus 31 hallmark (90%) HP:0000486
5 absent speech 31 hallmark (90%) HP:0001344
6 cachexia 31 hallmark (90%) HP:0004326
7 narrow face 31 hallmark (90%) HP:0000275
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 microcephaly 31 frequent (33%) HP:0000252
17 gastroesophageal reflux 31 frequent (33%) HP:0002020
18 feeding difficulties in infancy 31 frequent (33%) HP:0008872
19 stereotypy 31 frequent (33%) HP:0000733
20 dysphagia 31 frequent (33%) HP:0002015
21 nystagmus 31 frequent (33%) HP:0000639
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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.07 CDKL5 CNKSR2 EHMT1 FOXG1 KANSL1 MBD5
2 homeostasis/metabolism MP:0005376 9.9 EHMT1 FOXG1 KANSL1 MBD5 MECP2 NTRK2
3 nervous system MP:0003631 9.7 CDKL5 EHMT1 FOXG1 KANSL1 MBD5 MECP2
4 vision/eye MP:0005391 9.23 CDKL5 EHMT1 FOXG1 KANSL1 MECP2 NTRK2

Drugs & Therapeutics for Christianson Syndrome

Search Clinical Trials , NIH Clinical Center for Christianson Syndrome

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 45)
# Title Authors PMID Year
1
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome. 24 61
27256868 2016
2
The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature. 61 24
27142213 2016
3
Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome. 24 61
25044251 2014
4
A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES). 24 61
24630051 2014
5
Christianson syndrome protein NHE6 modulates TrkB endosomal signaling required for neuronal circuit development. 24 61
24035762 2013
6
Novel SLC9A6 mutations in two families with Christianson syndrome. 61 24
22931061 2013
7
Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum. 61 24
22541666 2013
8
Christianson syndrome in a patient with an interstitial Xq26.3 deletion. 61 24
21932316 2011
9
Natural history of Christianson syndrome. 24 61
20949524 2010
10
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. 24 61
18342287 2008
11
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 24
26993267 2016
12
Successful Treatment of Electrographic Status Epilepticus of Sleep With Felbamate in a Patient With SLC9A6 Mutation. 24
26421989 2015
13
Next-generation sequencing in X-linked intellectual disability. 24
25649377 2015
14
Na+/H+ exchanger isoform 6 (NHE6/SLC9A6) is involved in clathrin-dependent endocytosis of transferrin. 24
21881004 2011
15
A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome. 24
21812100 2011
16
Organellar Na+/H+ exchangers: novel players in organelle pH regulation and their emerging functions. 24
21171650 2011
17
A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition. 24
20395263 2010
18
Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome. 24
19471312 2009
19
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 24
19377476 2009
20
Four Na+/H+ exchanger isoforms are distributed to Golgi and post-Golgi compartments and are involved in organelle pH regulation. 24
15522866 2005
21
X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27. 24
10528855 1999
22
Loss of SLC9A6/NHE6 impairs nociception in a mouse model of Christianson Syndrome. 61
32569089 2020
23
Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome. 61
32277048 2020
24
Xq26 duplications lead to undergrowth or overgrowth via competing pathways including GPC3/GPC4. 61
31583675 2020
25
Epilepsy in Christianson syndrome: Two cases of Lennox-Gastaut syndrome and a review of literature. 61
31879735 2020
26
Pathobiology of Christianson syndrome: Linking disrupted endosomal-lysosomal function with intellectual disability and sensory impairments. 61
29772390 2019
27
Functional Assessment In Vivo of the Mouse Homolog of the Human Ala-9-Ser NHE6 Variant. 61
31676550 2019
28
A Christianson syndrome-linked deletion mutation (Δ287ES288) in SLC9A6 impairs hippocampal neuronal plasticity. 61
31175985 2019
29
Complex Neurological Phenotype in Female Carriers of NHE6 Mutations. 61
31192222 2019
30
A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome. 61
30937176 2019
31
A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome. 61
30296617 2019
32
Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome? 61
30126759 2018
33
Amyloid clearance defect in ApoE4 astrocytes is reversed by epigenetic correction of endosomal pH. 61
29946028 2018
34
The Na+(K+)/H+ exchanger Nhx1 controls multivesicular body-vacuolar lysosome fusion. 61
29212874 2018
35
Christianson Syndrome 61
29334451 2018
36
Syndrome of X linked intellectual disability, epilepsy, progressive brain atrophy and large head associated with SLC9A6 mutation. 61
29275387 2017
37
Mixed Neurodevelopmental and Neurodegenerative Pathology in Nhe6-Null Mouse Model of Christianson Syndrome. 61
29349289 2017
38
A Christianson syndrome-linked deletion mutation (∆(287)ES(288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death. 61
27590723 2016
39
Exonic deletion of SLC9A9 in autism with epilepsy. 61
27123481 2016
40
X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities. 61
26515654 2016
41
Christianson syndrome: spectrum of neuroimaging findings. 61
24285247 2014
42
Genetic disorders associated with postnatal microcephaly. 61
24839169 2014
43
If not Angelman, what is it? A review of Angelman-like syndromes. 61
24779060 2014
44
Inaugural Christianson Syndrome Association conference: families meeting for the first time. 61
25273398 2014
45
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 61) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC9A6 NM_001042537.1(SLC9A6):c.1463-1G>ASNV Pathogenic 625179 X:135106488-135106488 X:136024329-136024329
2 SLC9A6 NM_006359.3(SLC9A6):c.478_479AT[1] (p.Phe161fs)short repeat Pathogenic 627623 X:135080315-135080316 X:135998156-135998157
3 SLC9A6 NM_001042537.1(SLC9A6):c.1012_1020del (p.Gly338_Ala340del)deletion Pathogenic 29949 rs398122849 X:135092713-135092721 X:136010554-136010562
4 SLC9A6 NM_001042537.1(SLC9A6):c.860_865del (p.Glu287_Ser288del)deletion Pathogenic 11476 rs886037619 X:135084330-135084335 X:136002171-136002176
5 SLC9A6 NM_001042537.1(SLC9A6):c.1498C>T (p.Arg500Ter)SNV Pathogenic 11477 rs122461162 X:135106524-135106524 X:136024365-136024365
6 SLC9A6 NM_001042537.1(SLC9A6):c.603+3_603+4delinsCCindel Pathogenic 11478 rs730882187 X:135080347-135080348 X:135998188-135998189
7 SLC9A6 NM_001042537.1(SLC9A6):c.608_609del (p.His203fs)deletion Pathogenic 11479 rs730882188 X:135080645-135080646 X:135998486-135998487
8 SLC9A6 NM_001042537.1(SLC9A6):c.1639G>T (p.Glu547Ter)SNV Pathogenic 92121 rs398123003 X:135112313-135112313 X:136030154-136030154
9 SLC9A6 NM_001042537.1(SLC9A6):c.1665_1669del (p.Arg556fs)deletion Pathogenic 807688 X:135115588-135115592 X:136033429-136033433
10 SLC9A6 NM_001042537.1(SLC9A6):c.1148G>A (p.Gly383Asp)SNV Pathogenic 813744 X:135095508-135095508 X:136013349-136013349
11 SLC9A6 NM_001042537.1(SLC9A6):c.183del (p.Lys61fs)deletion Pathogenic 159931 rs587784398 X:135067844-135067844 X:135985685-135985685
12 SLC9A6 NM_001042537.1(SLC9A6):c.2078T>G (p.Leu693Ter)SNV Pathogenic 159932 rs587784399 X:135126855-135126855 X:136044696-136044696
13 SLC9A6 NM_001042537:c.916delCdeletion Pathogenic 246605
14 SLC9A6 NM_001042537.1(SLC9A6):c.882del (p.Ala295fs)deletion Pathogenic 375585 rs1057519394 X:135084354-135084354 X:136002195-136002195
15 SLC9A6 NM_001042537.1(SLC9A6):c.899+1G>ASNV Pathogenic/Likely pathogenic 432837 rs1556617455 X:135084373-135084373 X:136002214-136002214
16 SLC9A6 NM_001042537.1(SLC9A6):c.1472G>A (p.Gly491Asp)SNV Likely pathogenic 577815 rs1569525357 X:135106498-135106498 X:136024339-136024339
17 SLC9A6 NM_001042537.1(SLC9A6):c.847_849CTT[1] (p.Leu284del)short repeat Likely pathogenic 804087 X:135084320-135084322 X:136002161-136002163
18 SLC9A6 NM_001042537.1(SLC9A6):c.1239G>A (p.Leu413=)SNV Conflicting interpretations of pathogenicity 469632 rs151178361 X:135098806-135098806 X:136016647-136016647
19 SLC9A6 NM_001042537.1(SLC9A6):c.171C>G (p.Ile57Met)SNV Conflicting interpretations of pathogenicity 379120 rs782296172 X:135067832-135067832 X:135985673-135985673
20 SLC9A6 NM_001042537.1(SLC9A6):c.526-9_526-5deldeletion Conflicting interpretations of pathogenicity 207248 rs796053290 X:135080254-135080258 X:135998095-135998099
21 SLC9A6 NM_001042537.1(SLC9A6):c.*8A>TSNV Conflicting interpretations of pathogenicity 139210 rs200171451 X:135126891-135126891 X:136044732-136044732
22 SLC9A6 NM_001042537.1(SLC9A6):c.141C>T (p.Gly47=)SNV Conflicting interpretations of pathogenicity 139211 rs139299794 X:135067802-135067802 X:135985643-135985643
23 SLC9A6 NC_000023.11:g.(?_135985483)_(136024503_?)dupduplication Uncertain significance 831697 X:135067642-135106662
24 SLC9A6 NM_001042537.1(SLC9A6):c.1A>G (p.Met1Val)SNV Uncertain significance 853911 X:135067662-135067662 X:135985503-135985503
25 SLC9A6 NM_001042537.1(SLC9A6):c.2000T>G (p.Phe667Cys)SNV Uncertain significance 834464 X:135126777-135126777 X:136044618-136044618
26 SLC9A6 NM_001042537.1(SLC9A6):c.643G>A (p.Ala215Thr)SNV Uncertain significance 207239 rs796053281 X:135080680-135080680 X:135998521-135998521
27 SLC9A6 NM_001042537.1(SLC9A6):c.367C>T (p.Pro123Ser)SNV Uncertain significance 159934 rs587784400 X:135076986-135076986 X:135994827-135994827
28 SLC9A6 NM_001042537.1(SLC9A6):c.412A>G (p.Ser138Gly)SNV Uncertain significance 159935 rs587784401 X:135077031-135077031 X:135994872-135994872
29 SLC9A6 NM_001042537.1(SLC9A6):c.685A>G (p.Ile229Val)SNV Uncertain significance 159936 rs587784402 X:135081019-135081019 X:135998860-135998860
30 SLC9A6 NM_001042537.1(SLC9A6):c.362A>G (p.His121Arg)SNV Uncertain significance 409978 rs1060502675 X:135076981-135076981 X:135994822-135994822
31 SLC9A6 NM_001042537.1(SLC9A6):c.1042G>A (p.Val348Met)SNV Uncertain significance 469638 rs1556618832 X:135095108-135095108 X:136012949-136012949
32 SLC9A6 NM_001042537.1(SLC9A6):c.1584C>T (p.Gly528=)SNV Uncertain significance 469634 rs782370742 X:135106610-135106610 X:136024451-136024451
33 SLC9A6 NM_001042537.1(SLC9A6):c.581A>G (p.Tyr194Cys)SNV Uncertain significance 469636 rs1556616834 X:135080322-135080322 X:135998163-135998163
34 SLC9A6 NM_001042537.1(SLC9A6):c.7C>T (p.Arg3Trp)SNV Uncertain significance 657261 X:135067668-135067668 X:135985509-135985509
35 SLC9A6 NM_001042537.1(SLC9A6):c.227_244del (p.Ile76_Leu81del)deletion Uncertain significance 653174 X:135067881-135067898 X:135985722-135985739
36 SLC9A6 NM_001042537.1(SLC9A6):c.549T>G (p.Phe183Leu)SNV Uncertain significance 647660 X:135080290-135080290 X:135998131-135998131
37 SLC9A6 NM_001042537.1(SLC9A6):c.639A>G (p.Ala213=)SNV Uncertain significance 656614 X:135080676-135080676 X:135998517-135998517
38 SLC9A6 NM_001042537.1(SLC9A6):c.808A>G (p.Ile270Val)SNV Uncertain significance 646158 X:135084281-135084281 X:136002122-136002122
39 SLC9A6 NM_001042537.1(SLC9A6):c.715G>A (p.Val239Ile)SNV Uncertain significance 575064 rs1556616995 X:135081049-135081049 X:135998890-135998890
40 SLC9A6 NM_001042537.1(SLC9A6):c.269T>C (p.Leu90Pro)SNV Uncertain significance 469635 rs1556614843 X:135067930-135067930 X:135985771-135985771
41 SLC9A6 NM_001042537.1(SLC9A6):c.1939A>G (p.Ser647Gly)SNV Uncertain significance 537363 rs558960349 X:135126716-135126716 X:136044557-136044557
42 SLC9A6 NM_001042537.1(SLC9A6):c.8G>T (p.Arg3Leu)SNV Uncertain significance 572609 rs1016216648 X:135067669-135067669 X:135985510-135985510
43 SLC9A6 NM_001042537.1(SLC9A6):c.672C>T (p.Phe224=)SNV Likely benign 469637 rs1423014570 X:135080709-135080709 X:135998550-135998550
44 SLC9A6 NM_001042537.1(SLC9A6):c.1899A>T (p.Thr633=)SNV Likely benign 589925 rs782629258 X:135126676-135126676 X:136044517-136044517
45 SLC9A6 NM_001042537.1(SLC9A6):c.369G>A (p.Pro123=)SNV Likely benign 744117 X:135076988-135076988 X:135994829-135994829
46 SLC9A6 NM_001042537.1(SLC9A6):c.705G>A (p.Thr235=)SNV Likely benign 752199 X:135081039-135081039 X:135998880-135998880
47 SLC9A6 NM_001042537.1(SLC9A6):c.1237-8C>TSNV Likely benign 415899 rs1060504684 X:135098796-135098796 X:136016637-136016637
48 SLC9A6 NM_001042537.1(SLC9A6):c.1320C>T (p.Val440=)SNV Likely benign 469633 rs1556619315 X:135098887-135098887 X:136016728-136016728
49 SLC9A6 NM_001042537.1(SLC9A6):c.148G>T (p.Ala50Ser)SNV Likely benign 207247 rs367724979 X:135067809-135067809 X:135985650-135985650
50 SLC9A6 NM_001042537.1(SLC9A6):c.25G>T (p.Ala9Ser)SNV Benign/Likely benign 159933 rs201523857 X:135067686-135067686 X:135985527-135985527

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 cell GO:0005623 9.17 UBE3A SLC9A9 SLC9A8 SLC9A7 SLC9A6 SLC9A5
2 recycling endosome GO:0055037 9.13 SLC9A9 SLC9A7 SLC9A6

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

(show all 15)
# 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 sodium ion import across plasma membrane GO:0098719 9.65 SLC9A9 SLC9A7 SLC9A6 SLC9A5 SLC9A1
9 anion transmembrane transport GO:0098656 9.63 SLC9A9 SLC9A8 SLC9A7 SLC9A6 SLC9A5 SLC9A1
10 histone methylation GO:0016571 9.55 MECP2 EHMT1
11 central nervous system neuron development GO:0021954 9.54 NTRK2 FOXG1
12 cellular response to brain-derived neurotrophic factor stimulus GO:1990416 9.52 UBE3A NTRK2
13 brain-derived neurotrophic factor receptor signaling pathway GO:0031547 9.51 SLC9A6 NTRK2
14 regulation of intracellular pH GO:0051453 9.43 SLC9A9 SLC9A8 SLC9A7 SLC9A6 SLC9A5 SLC9A1
15 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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