MCID: CHR174
MIFTS: 40

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 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:



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

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:



Diseases related to Christianson Syndrome

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

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:

41
Eye, Cerebellum

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 )
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 )
2018
4
Mixed Neurodevelopmental and Neurodegenerative Pathology in<i>Nhe6</i>-Null Mouse Model of Christianson Syndrome. ( 29349289 )
2017
5
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome. ( 27256868 )
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 )
2015
8
Novel endosomal mechanisms in human axonal growth mediated by Christianson syndrome protein NHE6. ( 26531385 )
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 )
2014
11
Inaugural Christianson Syndrome Association conference: families meeting for the first time. ( 25273398 )
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 )
2013
14
Christianson syndrome protein NHE6 modulates TrkB endosomal signaling required for neuronal circuit development. ( 24035762 )
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 )
1993

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

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 8.62 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 for Christianson Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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