MCID: CHR174
MIFTS: 39

Christianson Syndrome

Categories: Rare diseases, Mental diseases, Neuronal 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
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 73
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 alacrima, achalasia, and mental retardation 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). Affiliated tissues include cerebellum and eye, and related phenotypes are microcephaly and narrow face

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:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked, syndromic, christianson type 11.8
2 alacrima, achalasia, and mental retardation syndrome 9.9
3 status epilepticus 9.9
4 retinitis 9.9
5 neuronitis 9.9
6 west syndrome 9.3 CDKL5 FOXG1
7 angelman syndrome 9.3 CDKL5 SLC9A6
8 pitt-hopkins syndrome 9.0 CDKL5 FOXG1 SLC9A6
9 rett syndrome 9.0 CDKL5 FOXG1
10 microcephaly 8.9 CDKL5 FOXG1 SLC9A6
11 pervasive developmental disorder 8.9 CDKL5 FOXG1 SLC9A9
12 trehalase deficiency 8.7 CDKL5 FOXG1 KANSL1

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

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 taste/olfaction MP:0005394 8.62 CDKL5 FOXG1

Drugs & Therapeutics for Christianson Syndrome

Search Clinical Trials , NIH Clinical Center for Christianson Syndrome

Cochrane evidence based reviews: mental retardation x-linked, south african 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
Cerebellum, Eye

Publications for Christianson Syndrome

Articles related to Christianson Syndrome:

(show all 17)
# Title Authors Year
1
Pathobiology of Christianson syndrome: Linking disrupted endosomal-lysosomal function with intellectual disability and sensory impairments. ( 29772390 )
2018
2
Mixed Neurodevelopmental and Neurodegenerative Pathology in<i>Nhe6</i>-Null Mouse Model of Christianson Syndrome. ( 29349289 )
2017
3
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome. ( 27256868 )
2016
4
A Christianson syndrome-linked deletion mutation (a88(287)ES(288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death. ( 27590723 )
2016
5
X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities. ( 26515654 )
2015
6
Novel endosomal mechanisms in human axonal growth mediated by Christianson syndrome protein NHE6. ( 26531385 )
2015
7
REMOVED: Novel endosomal mechanisms in human axonal growth mediated by Christianson syndrome protein NHE6. ( 29887063 )
2015
8
Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome. ( 25044251 )
2014
9
Inaugural Christianson Syndrome Association conference: families meeting for the first time. ( 25273398 )
2014
10
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
11
Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum. ( 22541666 )
2013
12
Christianson syndrome protein NHE6 modulates TrkB endosomal signaling required for neuronal circuit development. ( 24035762 )
2013
13
Novel SLC9A6 mutations in two families with Christianson syndrome. ( 22931061 )
2013
14
Christianson Syndrome: Spectrum of Neuroimaging Findings. ( 24285247 )
2013
15
Christianson syndrome in a patient with an interstitial Xq26.3 deletion. ( 21932316 )
2011
16
Natural history of Christianson syndrome. ( 20949524 )
2010
17
Christianson Syndrome ( 29334451 )
1993

Variations for Christianson Syndrome

ClinVar genetic disease variations for Christianson Syndrome:

6
(show top 50) (show all 65)
# 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.25G> T (p.Ala9Ser) single nucleotide variant Benign rs201523857 GRCh37 Chromosome X, 135067686: 135067686
14 SLC9A6 NM_001042537.1(SLC9A6): c.25G> T (p.Ala9Ser) single nucleotide variant Benign rs201523857 GRCh38 Chromosome X, 135985527: 135985527
15 SLC9A6 NM_001042537.1(SLC9A6): c.183delG (p.Lys61Asnfs) deletion Pathogenic rs587784398 GRCh37 Chromosome X, 135067844: 135067844
16 SLC9A6 NM_001042537.1(SLC9A6): c.183delG (p.Lys61Asnfs) deletion Pathogenic rs587784398 GRCh38 Chromosome X, 135985685: 135985685
17 SLC9A6 NM_001042537.1(SLC9A6): c.367C> T (p.Pro123Ser) single nucleotide variant Uncertain significance rs587784400 GRCh37 Chromosome X, 135076986: 135076986
18 SLC9A6 NM_001042537.1(SLC9A6): c.367C> T (p.Pro123Ser) single nucleotide variant Uncertain significance rs587784400 GRCh38 Chromosome X, 135994827: 135994827
19 SLC9A6 NM_001042537.1(SLC9A6): c.412A> G (p.Ser138Gly) single nucleotide variant Uncertain significance rs587784401 GRCh37 Chromosome X, 135077031: 135077031
20 SLC9A6 NM_001042537.1(SLC9A6): c.412A> G (p.Ser138Gly) single nucleotide variant Uncertain significance rs587784401 GRCh38 Chromosome X, 135994872: 135994872
21 SLC9A6 NM_001042537.1(SLC9A6): c.685A> G (p.Ile229Val) single nucleotide variant Uncertain significance rs587784402 GRCh37 Chromosome X, 135081019: 135081019
22 SLC9A6 NM_001042537.1(SLC9A6): c.685A> G (p.Ile229Val) single nucleotide variant Uncertain significance rs587784402 GRCh38 Chromosome X, 135998860: 135998860
23 SLC9A6 NM_001042537.1(SLC9A6): c.2078T> G (p.Leu693Ter) single nucleotide variant Pathogenic rs587784399 GRCh37 Chromosome X, 135126855: 135126855
24 SLC9A6 NM_001042537.1(SLC9A6): c.2078T> G (p.Leu693Ter) single nucleotide variant Pathogenic rs587784399 GRCh38 Chromosome X, 136044696: 136044696
25 SLC9A6 NM_001042537.1(SLC9A6): c.604-1G> A single nucleotide variant Pathogenic rs797044508 GRCh37 Chromosome X, 135080640: 135080640
26 SLC9A6 NM_001042537.1(SLC9A6): c.604-1G> A single nucleotide variant Pathogenic rs797044508 GRCh38 Chromosome X, 135998481: 135998481
27 SLC9A6 NM_006359.2(SLC9A6): c.430-9_430-5delTTTTA deletion Conflicting interpretations of pathogenicity rs796053290 GRCh37 Chromosome X, 135080258: 135080262
28 SLC9A6 NM_006359.2(SLC9A6): c.430-9_430-5delTTTTA deletion Conflicting interpretations of pathogenicity rs796053290 GRCh38 Chromosome X, 135998099: 135998103
29 SLC9A6 NM_006359.2(SLC9A6): c.584+5G> A single nucleotide variant Likely pathogenic rs796053284 GRCh37 Chromosome X, 135080722: 135080722
30 SLC9A6 NM_006359.2(SLC9A6): c.584+5G> A single nucleotide variant Likely pathogenic rs796053284 GRCh38 Chromosome X, 135998563: 135998563
31 SLC9A6 NM_001042537: c.916delC undetermined variant Pathogenic
32 SLC9A6 NM_001042537.1(SLC9A6): c.882delT (p.Ala295Profs) deletion Pathogenic rs1057519394 GRCh37 Chromosome X, 135084355: 135084355
33 SLC9A6 NM_001042537.1(SLC9A6): c.882delT (p.Ala295Profs) deletion Pathogenic rs1057519394 GRCh38 Chromosome X, 136002196: 136002196
34 SLC9A6 NM_006359.2(SLC9A6): c.171C> G (p.Ile57Met) single nucleotide variant Conflicting interpretations of pathogenicity rs782296172 GRCh37 Chromosome X, 135067832: 135067832
35 SLC9A6 NM_006359.2(SLC9A6): c.171C> G (p.Ile57Met) single nucleotide variant Conflicting interpretations of pathogenicity rs782296172 GRCh38 Chromosome X, 135985673: 135985673
36 SLC9A6 NM_006359.2(SLC9A6): c.153A> G (p.Arg51=) single nucleotide variant Benign/Likely benign rs782090744 GRCh37 Chromosome X, 135067814: 135067814
37 SLC9A6 NM_006359.2(SLC9A6): c.153A> G (p.Arg51=) single nucleotide variant Benign/Likely benign rs782090744 GRCh38 Chromosome X, 135985655: 135985655
38 SLC9A6 NM_006359.2(SLC9A6): c.384T> C (p.Asn128=) single nucleotide variant Likely benign rs782529317 GRCh38 Chromosome X, 135994844: 135994844
39 SLC9A6 NM_006359.2(SLC9A6): c.384T> C (p.Asn128=) single nucleotide variant Likely benign rs782529317 GRCh37 Chromosome X, 135077003: 135077003
40 SLC9A6 NM_006359.2(SLC9A6): c.362A> G (p.His121Arg) single nucleotide variant Uncertain significance rs1060502675 GRCh37 Chromosome X, 135076981: 135076981
41 SLC9A6 NM_006359.2(SLC9A6): c.362A> G (p.His121Arg) single nucleotide variant Uncertain significance rs1060502675 GRCh38 Chromosome X, 135994822: 135994822
42 SLC9A6 NM_006359.2(SLC9A6): c.663A> G (p.Leu221=) single nucleotide variant Likely benign rs1060504685 GRCh37 Chromosome X, 135081093: 135081093
43 SLC9A6 NM_006359.2(SLC9A6): c.663A> G (p.Leu221=) single nucleotide variant Likely benign rs1060504685 GRCh38 Chromosome X, 135998934: 135998934
44 SLC9A6 NM_006359.2(SLC9A6): c.1141-8C> T single nucleotide variant Likely benign rs1060504684 GRCh37 Chromosome X, 135098796: 135098796
45 SLC9A6 NM_006359.2(SLC9A6): c.1141-8C> T single nucleotide variant Likely benign rs1060504684 GRCh38 Chromosome X, 136016637: 136016637
46 SLC9A6 NM_006359.2(SLC9A6): c.1020C> G (p.Thr340=) single nucleotide variant Likely benign rs1060504686 GRCh37 Chromosome X, 135095182: 135095182
47 SLC9A6 NM_006359.2(SLC9A6): c.1020C> G (p.Thr340=) single nucleotide variant Likely benign rs1060504686 GRCh38 Chromosome X, 136013023: 136013023
48 SLC9A6 NM_006359.2(SLC9A6): c.1668G> A (p.Pro556=) single nucleotide variant Likely benign rs1060504687 GRCh37 Chromosome X, 135122271: 135122271
49 SLC9A6 NM_006359.2(SLC9A6): c.1668G> A (p.Pro556=) single nucleotide variant Likely benign rs1060504687 GRCh38 Chromosome X, 136040112: 136040112
50 SLC9A6 NM_006359.2(SLC9A6): c.946G> A (p.Val316Met) single nucleotide variant Uncertain significance GRCh37 Chromosome X, 135095108: 135095108

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 potassium ion transmembrane transport GO:0071805 9.43 SLC9A6 SLC9A9
2 sodium ion transport GO:0006814 9.4 SLC9A6 SLC9A9
3 proton transmembrane transport GO:1902600 9.37 SLC9A6 SLC9A9
4 sodium ion transmembrane transport GO:0035725 9.32 SLC9A6 SLC9A9
5 cation transport GO:0006812 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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