MRXSCH
MCID: MNT121
MIFTS: 39

Mental Retardation, X-Linked Syndromic, Christianson Type (MRXSCH) malady

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

Aliases & Classifications for Mental Retardation, X-Linked Syndromic, Christianson Type

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
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Aliases & Descriptions for Mental Retardation, X-Linked Syndromic, Christianson Type:

Name: Mental Retardation, X-Linked Syndromic, Christianson Type 52 11 12
Christianson Syndrome 11 48 25 54 27 13
X-Linked Angelman-Like Syndrome 11 48 54 70
X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome 11 48 54
Mental Retardation, X-Linked, Syndromic, Christianson Type 52 70 68
X-Linked Intellectual Disability, South African Type 11 48 54
Mrxsch 11 70
X-Linked Intellectual Disability - Craniofacial Dysmorphism - Epilepsy - Ophthalmoplegia - Cerebellar Atrophy 48
Intellectual Disability Microcephaly Epilepsy and Ataxia Syndrome 48
 
Mental Retardation, Microcephaly, Epilepsy, and Ataxia Syndrome 11
Intellectual Disability X-Linked Syndromic Christianson Type 48
Mental Retardation Microcephaly Epilepsy and Ataxia Syndrome 70
Intellectual Deficit, X-Linked, South African Type 25
Mental Retardation X-Linked, South African Type 39
Angelman-Like Syndrome, X-Linked 25
Angelman-Like Syndrome X-Linked 48
Mrxs-Christianson 70
Mrxs Christianson 48

Characteristics:

Orphanet epidemiological data:

54
christianson syndrome:
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: young Adult

HPO:

64
mental retardation, x-linked syndromic, christianson type:
Inheritance: x-linked dominant inheritance
Mortality/Aging: death in early adulthood

Classifications:



External Ids:

OMIM52 300243
Disease Ontology11 DOID:0060825
ICD1030 Q87.8
Orphanet54 ORPHA85278
MESH via Orphanet40 C537450
UMLS via Orphanet69 C1846130
ICD10 via Orphanet31 Q87.8
MedGen37 C2678194

Summaries for Mental Retardation, X-Linked Syndromic, Christianson Type

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NIH Rare Diseases:48 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. last updated: 1/26/2015

MalaCards based summary: Mental Retardation, X-Linked Syndromic, Christianson Type, also known as christianson syndrome, is related to mental retardation x-linked, south african type and slc9a6-related syndromic mental retardation, and has symptoms including ataxia, ataxia and ophthalmoplegia. An important gene associated with Mental Retardation, X-Linked Syndromic, Christianson Type is SLC9A6 (Solute Carrier Family 9 Member A6). Affiliated tissues include skeletal muscle, cerebellum and eye, and related mouse phenotype taste/olfaction.

UniProtKB/Swiss-Prot:70 Mental retardation, X-linked, syndromic, Christianson type: A syndrome characterized by profound mental retardation, epilepsy, ataxia, and microcephaly. It shows phenotypic overlap with Angelman 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.

OMIM:52 Christianson syndrome is an X-linked neurodevelopmental and progressive mental retardation syndrome characterized by... (300243) more...

Disease Ontology:11 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.

Related Diseases for Mental Retardation, X-Linked Syndromic, Christianson Type

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Diseases related to Mental Retardation, X-Linked Syndromic, Christianson Type via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1mental retardation x-linked, south african type12.4
2slc9a6-related syndromic mental retardation11.2
3carnosinemia9.9CDKL5, SLC9A6
4encephalopathy, neonatal severe9.8CDKL5, FOXG1
5pulmonary hypertension9.8CDKL5, FOXG1
6spastic paraplegia 6, autosomal dominant9.7CDKL5, SLC9A6
7sexual disorder9.7CDKL5, FOXG1, SLC9A9
8panhypopituitarism, x-linked9.3CDKL5, FOXG1, KANSL1, SLC9A6, SLC9A9

Graphical network of diseases related to Mental Retardation, X-Linked Syndromic, Christianson Type:



Diseases related to mental retardation, x-linked syndromic, christianson type

Symptoms & Phenotypes for Mental Retardation, X-Linked Syndromic, Christianson Type

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Symptoms by clinical synopsis from OMIM:

300243

Clinical features from OMIM:

300243

Human phenotypes related to Mental Retardation, X-Linked Syndromic, Christianson Type:

 54 64 (show all 61)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly64 54 Frequent (79-30%) HP:0000252
2 narrow face64 54 Very frequent (99-80%) HP:0000275
3 long face64 54 Very frequent (99-80%) HP:0000276
4 mandibular prognathia64 54 Occasional (29-5%) HP:0000303
5 abnormality of the nose64 54 Occasional (29-5%) HP:0000366
6 macrotia64 54 Very frequent (99-80%) HP:0000400
7 strabismus64 54 Very frequent (99-80%) HP:0000486
8 deeply set eye64 54 Occasional (29-5%) HP:0000490
9 thick eyebrow64 54 Very frequent (99-80%) HP:0000574
10 ophthalmoplegia64 54 Frequent (79-30%) HP:0000602
11 nystagmus64 54 Frequent (79-30%) HP:0000639
12 autism64 54 Frequent (79-30%) HP:0000717
13 stereotypy64 54 Frequent (79-30%) HP:0000733
14 inappropriate laughter64 54 Frequent (79-30%) HP:0000748
15 abnormality of the thorax54 Frequent (79-30%)
16 pectus excavatum64 54 Frequent (79-30%) HP:0000767
17 adducted thumb64 54 Frequent (79-30%) HP:0001181
18 cerebellar atrophy64 54 Very frequent (99-80%) HP:0001272
19 dystonia64 54 Frequent (79-30%) HP:0001332
20 absent speech64 54 Very frequent (99-80%) HP:0001344
21 dysphagia64 54 Frequent (79-30%) HP:0002015
22 gastroesophageal reflux64 54 Frequent (79-30%) HP:0002020
23 gait ataxia64 54 Frequent (79-30%) HP:0002066
24 truncal ataxia64 54 Very frequent (99-80%) HP:0002078
25 ventriculomegaly64 54 Frequent (79-30%) HP:0002119
26 cerebral cortical atrophy64 54 Frequent (79-30%) HP:0002120
27 intellectual disability, profound64 54 Very frequent (99-80%) HP:0002187
28 generalized seizures64 54 Very frequent (99-80%) HP:0002197
29 mutism64 54 Frequent (79-30%) HP:0002300
30 developmental regression64 54 Very frequent (99-80%) HP:0002376
31 neuronal loss in central nervous system64 54 Very frequent (99-80%) HP:0002529
32 arthrogryposis multiplex congenita64 54 Occasional (29-5%) HP:0002804
33 decreased muscle mass64 54 Occasional (29-5%) HP:0003199
34 cachexia64 54 Very frequent (99-80%) HP:0004326
35 joint hyperflexibility64 54 Occasional (29-5%) HP:0005692
36 aplasia/hypoplasia of the cerebellum64 54 Very frequent (99-80%) HP:0007360
37 aplasia/hypoplasia of the corpus callosum64 54 Frequent (79-30%) HP:0007370
38 feeding difficulties in infancy64 54 Frequent (79-30%) HP:0008872
39 severe global developmental delay64 54 Very frequent (99-80%) HP:0011344
40 conspicuously happy disposition64 54 Frequent (79-30%) HP:0100024
41 death in early adulthood54 Occasional (29-5%)
42 urinary incontinence64 HP:0000020
43 open mouth64 HP:0000194
44 narrow chest64 HP:0000774
45 slender finger64 HP:0001238
46 muscular hypotonia64 HP:0001252
47 global developmental delay64 HP:0001263
48 flexion contracture64 HP:0001371
49 abnormality of the foot64 HP:0001760
50 drooling64 HP:0002307
51 sleep disturbance64 HP:0002360
52 hyperkinesis64 HP:0002487
53 bowel incontinence64 HP:0002607
54 long nose64 HP:0003189
55 skeletal muscle atrophy64 HP:0003202
56 decreased body weight64 HP:0004325
57 loss of ability to walk in first decade64 HP:0006794
58 intellectual disability, progressive64 HP:0006887
59 photosensitive tonic-clonic seizures64 HP:0007207
60 intellectual disability, severe64 HP:0010864
61 happy demeanor64 HP:0040082

UMLS symptoms related to Mental Retardation, X-Linked Syndromic, Christianson Type:


ataxia, ophthalmoplegia, sleep disturbances, ataxia, truncal

MGI Mouse Phenotypes related to Mental Retardation, X-Linked Syndromic, Christianson Type according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053949.1CDKL5, FOXG1

Drugs & Therapeutics for Mental Retardation, X-Linked Syndromic, Christianson Type

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Mental Retardation, X-Linked Syndromic, Christianson Type


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

Genetic Tests for Mental Retardation, X-Linked Syndromic, Christianson Type

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Genetic tests related to Mental Retardation, X-Linked Syndromic, Christianson Type:

id Genetic test Affiliating Genes
1 Christianson Syndrome27

Anatomical Context for Mental Retardation, X-Linked Syndromic, Christianson Type

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MalaCards organs/tissues related to Mental Retardation, X-Linked Syndromic, Christianson Type:

36
Skeletal muscle, Cerebellum, Eye

Publications for Mental Retardation, X-Linked Syndromic, Christianson Type

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Variations for Mental Retardation, X-Linked Syndromic, Christianson Type

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Clinvar genetic disease variations for Mental Retardation, X-Linked Syndromic, Christianson Type:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1SLC9A6NM_ 001042537.1(SLC9A6): c.860_ 865delAAAGTG (p.Glu287_ Ser288del)deletionPathogenicrs886037619GRCh38Chr X, 136002174: 136002179
2SLC9A6NM_ 001042537.1(SLC9A6): c.1498C> T (p.Arg500Ter)SNVPathogenicrs122461162GRCh37Chr X, 135106524: 135106524
3SLC9A6NM_ 001042537.1(SLC9A6): c.603+3_ 603+4delAAinsCCindelPathogenicrs730882187GRCh37Chr X, 135080347: 135080348
4SLC9A6NM_ 001042537.1(SLC9A6): c.608_ 609delAT (p.His203Leufs)deletionPathogenicrs730882188GRCh37Chr X, 135080645: 135080646
5SLC9A6NM_ 001042537.1(SLC9A6): c.183delG (p.Lys61Asnfs)deletionPathogenicrs587784398GRCh38Chr X, 135985685: 135985685
6SLC9A6NM_ 001042537.1(SLC9A6): c.2078T> G (p.Leu693Ter)SNVPathogenicrs587784399GRCh37Chr X, 135126855: 135126855
7SLC9A6NM_ 001042537.1(SLC9A6): c.604-1G> ASNVPathogenicrs797044508GRCh37Chr X, 135080640: 135080640
8SLC9A6NM_ 001042537: c.916delCundetermined variantPathogenic
9SLC9A6NM_ 001042537.1(SLC9A6): c.1012_ 1020delGGTGCTGCT (p.Gly338_ Ala340del)deletionPathogenicrs398122849GRCh37Chr X, 135092713: 135092721
10SLC9A6NM_ 001042537.1(SLC9A6): c.882delT (p.Ala295Profs)deletionPathogenicrs1057519394GRCh37Chr X, 135084355: 135084355
11SLC9A6NM_ 001042537.1(SLC9A6): c.1639G> T (p.Glu547Ter)SNVPathogenicrs398123003GRCh37Chr X, 135112313: 135112313

Expression for genes affiliated with Mental Retardation, X-Linked Syndromic, Christianson Type

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Search GEO for disease gene expression data for Mental Retardation, X-Linked Syndromic, Christianson Type.

Pathways for genes affiliated with Mental Retardation, X-Linked Syndromic, Christianson Type

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GO Terms for genes affiliated with Mental Retardation, X-Linked Syndromic, Christianson Type

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Cellular components related to Mental Retardation, X-Linked Syndromic, Christianson Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1recycling endosomeGO:00550379.5SLC9A6, SLC9A9

Biological processes related to Mental Retardation, X-Linked Syndromic, Christianson Type according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cation transportGO:000681210.2SLC9A6, SLC9A9
2hydrogen ion transmembrane transportGO:190260010.1SLC9A6, SLC9A9
3potassium ion transmembrane transportGO:007180510.1SLC9A6, SLC9A9
4regulation of intracellular pHGO:005145310.1SLC9A6, SLC9A9
5regulation of pHGO:000688510.1SLC9A6, SLC9A9
6sodium ion import across plasma membraneGO:009871910.1SLC9A6, SLC9A9
7sodium ion transmembrane transportGO:003572510.0SLC9A6, SLC9A9
8sodium ion transportGO:00068149.5SLC9A6, SLC9A9

Molecular functions related to Mental Retardation, X-Linked Syndromic, Christianson Type according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1antiporter activityGO:00152979.9SLC9A6, SLC9A9
2potassium:proton antiporter activityGO:00153869.9SLC9A6, SLC9A9
3sodium:proton antiporter activityGO:00153859.8SLC9A6, SLC9A9
4solute:proton antiporter activityGO:00152999.5SLC9A6, SLC9A9

Sources for Mental Retardation, X-Linked Syndromic, Christianson Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet