MCID: CHR174
MIFTS: 38

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 54 26 38 30 6 15
X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome 12 54
Mental Retardation, X-Linked, Syndromic, Christianson Type 45 74
X-Linked Intellectual Disability, South African Type 12 54
X-Linked Angelman-Like Syndrome 12 54
X-Linked Intellectual Disability - Craniofacial Dysmorphism - Epilepsy - Ophthalmoplegia - Cerebellar Atrophy 54
Intellectual Disability Microcephaly Epilepsy and Ataxia Syndrome 54
Mental Retardation, Microcephaly, Epilepsy, and Ataxia Syndrome 12
Intellectual Disability X-Linked Syndromic Christianson Type 54
Mental Retardation, X-Linked Syndromic, Christianson Type 12
Intellectual Deficit, X-Linked, South African Type 26
Mental Retardation X-Linked, South African Type 45
Angelman-Like Syndrome, X-Linked 26
Angelman-Like Syndrome X-Linked 54
Mrxs Christianson 54
Mrxsch 12

Characteristics:

HPO:

33
christianson syndrome:
Mortality/Aging death in early adulthood


Classifications:



Summaries for Christianson Syndrome

NIH Rare Diseases : 54 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 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.

Genetics Home Reference : 26 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.

Wikipedia : 77 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:

# Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked, syndromic, christianson type 12.0
2 status epilepticus 10.2
3 alacrima, achalasia, and mental retardation syndrome 10.1
4 retinitis 10.1
5 pitt-hopkins syndrome 9.7 CDKL5 SLC9A6
6 pervasive developmental disorder 9.7 CDKL5 SLC9A9
7 focal epilepsy 9.6 CDKL5 KANSL1
8 angelman syndrome 9.5 CDKL5 SLC9A6

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:

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

UMLS symptoms related to Christianson Syndrome:


ataxia, ophthalmoplegia, sleep disturbances, ataxia, truncal

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 30 SLC9A6

Anatomical Context for Christianson Syndrome

MalaCards organs/tissues related to Christianson Syndrome:

42
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 85)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC9A6 NM_001042537.1(SLC9A6): c.25G> T (p.Ala9Ser) single nucleotide variant Benign/Likely benign rs201523857 GRCh37 Chromosome X, 135067686: 135067686
2 SLC9A6 NM_001042537.1(SLC9A6): c.25G> T (p.Ala9Ser) single nucleotide variant Benign/Likely benign rs201523857 GRCh38 Chromosome X, 135985527: 135985527
3 SLC9A6 NM_001042537.1(SLC9A6): c.183del (p.Lys61Asnfs) deletion Pathogenic rs587784398 GRCh37 Chromosome X, 135067844: 135067844
4 SLC9A6 NM_001042537.1(SLC9A6): c.183del (p.Lys61Asnfs) deletion Pathogenic rs587784398 GRCh38 Chromosome X, 135985685: 135985685
5 SLC9A6 NM_001042537.1(SLC9A6): c.367C> T (p.Pro123Ser) single nucleotide variant Uncertain significance rs587784400 GRCh37 Chromosome X, 135076986: 135076986
6 SLC9A6 NM_001042537.1(SLC9A6): c.367C> T (p.Pro123Ser) single nucleotide variant Uncertain significance rs587784400 GRCh38 Chromosome X, 135994827: 135994827
7 SLC9A6 NM_001042537.1(SLC9A6): c.412A> G (p.Ser138Gly) single nucleotide variant Uncertain significance rs587784401 GRCh37 Chromosome X, 135077031: 135077031
8 SLC9A6 NM_001042537.1(SLC9A6): c.412A> G (p.Ser138Gly) single nucleotide variant Uncertain significance rs587784401 GRCh38 Chromosome X, 135994872: 135994872
9 SLC9A6 NM_001042537.1(SLC9A6): c.685A> G (p.Ile229Val) single nucleotide variant Uncertain significance rs587784402 GRCh37 Chromosome X, 135081019: 135081019
10 SLC9A6 NM_001042537.1(SLC9A6): c.685A> G (p.Ile229Val) single nucleotide variant Uncertain significance rs587784402 GRCh38 Chromosome X, 135998860: 135998860
11 SLC9A6 NM_001042537.1(SLC9A6): c.2078T> G (p.Leu693Ter) single nucleotide variant Pathogenic rs587784399 GRCh37 Chromosome X, 135126855: 135126855
12 SLC9A6 NM_001042537.1(SLC9A6): c.2078T> G (p.Leu693Ter) single nucleotide variant Pathogenic rs587784399 GRCh38 Chromosome X, 136044696: 136044696
13 SLC9A6 NM_006359.2(SLC9A6): c.430-9_430-5delTTTTA deletion Conflicting interpretations of pathogenicity rs796053290 GRCh37 Chromosome X, 135080258: 135080262
14 SLC9A6 NM_006359.2(SLC9A6): c.430-9_430-5delTTTTA deletion Conflicting interpretations of pathogenicity rs796053290 GRCh38 Chromosome X, 135998099: 135998103
15 SLC9A6 NM_006359.2(SLC9A6): c.764_769delAAAGTG (p.Glu255_Ser256del) deletion Pathogenic rs886037619 GRCh38 Chromosome X, 136002174: 136002179
16 SLC9A6 NM_006359.2(SLC9A6): c.764_769delAAAGTG (p.Glu255_Ser256del) deletion Pathogenic rs886037619 GRCh37 Chromosome X, 135084333: 135084338
17 SLC9A6 NM_006359.2(SLC9A6): c.1402C> T (p.Arg468Ter) single nucleotide variant Pathogenic rs122461162 GRCh37 Chromosome X, 135106524: 135106524
18 SLC9A6 NM_006359.2(SLC9A6): c.1402C> T (p.Arg468Ter) single nucleotide variant Pathogenic rs122461162 GRCh38 Chromosome X, 136024365: 136024365
19 SLC9A6 NM_001042537.1(SLC9A6): c.603+3_603+4delAAinsCC indel Pathogenic rs730882187 GRCh37 Chromosome X, 135080347: 135080348
20 SLC9A6 NM_001042537.1(SLC9A6): c.603+3_603+4delAAinsCC indel Pathogenic rs730882187 GRCh38 Chromosome X, 135998188: 135998189
21 SLC9A6 NM_001042537.1(SLC9A6): c.608_609delAT (p.His203Leufs) deletion Pathogenic rs730882188 GRCh37 Chromosome X, 135080645: 135080646
22 SLC9A6 NM_001042537.1(SLC9A6): c.608_609delAT (p.His203Leufs) deletion Pathogenic rs730882188 GRCh38 Chromosome X, 135998486: 135998487
23 SLC9A6 NM_001042537.1(SLC9A6): c.1012_1020delGGTGCTGCT (p.Gly338_Ala340del) deletion Pathogenic rs398122849 GRCh37 Chromosome X, 135092713: 135092721
24 SLC9A6 NM_001042537.1(SLC9A6): c.1012_1020delGGTGCTGCT (p.Gly338_Ala340del) deletion Pathogenic rs398122849 GRCh38 Chromosome X, 136010554: 136010562
25 SLC9A6 NM_001042537.1(SLC9A6): c.1639G> T (p.Glu547Ter) single nucleotide variant Pathogenic rs398123003 GRCh37 Chromosome X, 135112313: 135112313
26 SLC9A6 NM_001042537.1(SLC9A6): c.1639G> T (p.Glu547Ter) single nucleotide variant Pathogenic rs398123003 GRCh38 Chromosome X, 136030154: 136030154
27 SLC9A6 NM_001042537.1(SLC9A6): c.1616+4A> G single nucleotide variant Benign rs180727016 GRCh37 Chromosome X, 135106646: 135106646
28 SLC9A6 NM_001042537.1(SLC9A6): c.1616+4A> G single nucleotide variant Benign rs180727016 GRCh38 Chromosome X, 136024487: 136024487
29 SLC9A6 NM_006359.2(SLC9A6): c.534T> C (p.Ser178=) single nucleotide variant Benign rs144316388 GRCh37 Chromosome X, 135080667: 135080667
30 SLC9A6 NM_006359.2(SLC9A6): c.534T> C (p.Ser178=) single nucleotide variant Benign rs144316388 GRCh38 Chromosome X, 135998508: 135998508
31 SLC9A6 NM_001042537.1(SLC9A6): c.900-6C> T single nucleotide variant Benign rs17001258 GRCh37 Chromosome X, 135092595: 135092595
32 SLC9A6 NM_001042537.1(SLC9A6): c.900-6C> T single nucleotide variant Benign rs17001258 GRCh38 Chromosome X, 136010436: 136010436
33 SLC9A6 NM_001042537.1(SLC9A6): c.1185A> C (p.Ala395=) single nucleotide variant Benign rs142049079 GRCh37 Chromosome X, 135095545: 135095545
34 SLC9A6 NM_001042537.1(SLC9A6): c.1185A> C (p.Ala395=) single nucleotide variant Benign rs142049079 GRCh38 Chromosome X, 136013386: 136013386
35 SLC9A6 NM_006359.2(SLC9A6): c.1520+10A> G single nucleotide variant Benign rs185533973 GRCh37 Chromosome X, 135106652: 135106652
36 SLC9A6 NM_006359.2(SLC9A6): c.1520+10A> G single nucleotide variant Benign rs185533973 GRCh38 Chromosome X, 136024493: 136024493
37 SLC9A6 NM_001042537.1(SLC9A6): c.1648-3C> T single nucleotide variant Benign rs563279759 GRCh37 Chromosome X, 135115570: 135115570
38 SLC9A6 NM_001042537.1(SLC9A6): c.1648-3C> T single nucleotide variant Benign rs563279759 GRCh38 Chromosome X, 136033411: 136033411
39 SLC9A6 NM_001042537.1(SLC9A6): c.1703G> A (p.Arg568Gln) single nucleotide variant Benign/Likely benign rs146263125 GRCh37 Chromosome X, 135115628: 135115628
40 SLC9A6 NM_001042537.1(SLC9A6): c.1703G> A (p.Arg568Gln) single nucleotide variant Benign/Likely benign rs146263125 GRCh38 Chromosome X, 136033469: 136033469
41 SLC9A6 NM_001042537.1(SLC9A6): c.1728-4G> A single nucleotide variant Benign rs188072063 GRCh37 Chromosome X, 135122231: 135122231
42 SLC9A6 NM_001042537.1(SLC9A6): c.1728-4G> A single nucleotide variant Benign rs188072063 GRCh38 Chromosome X, 136040072: 136040072
43 SLC9A6 NM_001042537.1(SLC9A6): c.1755C> T (p.Ser585=) single nucleotide variant Benign/Likely benign rs2307131 GRCh37 Chromosome X, 135122262: 135122262
44 SLC9A6 NM_001042537.1(SLC9A6): c.1755C> T (p.Ser585=) single nucleotide variant Benign/Likely benign rs2307131 GRCh38 Chromosome X, 136040103: 136040103
45 SLC9A6 NM_001042537: c.916delC undetermined variant Pathogenic
46 SLC9A6 NM_001042537.1(SLC9A6): c.882delT (p.Ala295Profs) deletion Pathogenic rs1057519394 GRCh37 Chromosome X, 135084355: 135084355
47 SLC9A6 NM_001042537.1(SLC9A6): c.882delT (p.Ala295Profs) deletion Pathogenic rs1057519394 GRCh38 Chromosome X, 136002196: 136002196
48 SLC9A6 NM_006359.2(SLC9A6): c.171C> G (p.Ile57Met) single nucleotide variant Conflicting interpretations of pathogenicity rs782296172 GRCh37 Chromosome X, 135067832: 135067832
49 SLC9A6 NM_006359.2(SLC9A6): c.171C> G (p.Ile57Met) single nucleotide variant Conflicting interpretations of pathogenicity rs782296172 GRCh38 Chromosome X, 135985673: 135985673
50 SLC9A6 NM_006359.2(SLC9A6): c.153A> G (p.Arg51=) single nucleotide variant Benign/Likely benign rs782090744 GRCh37 Chromosome X, 135067814: 135067814

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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