MCID: MNT121
MIFTS: 30

Mental Retardation, X-Linked Syndromic, Christianson Type 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, 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
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

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
UMLS68 C1846130

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 narrow face, long face and macrotia. 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.

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.

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...

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.

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

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:

 64 54 (show all 68)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 narrow face64 54 hallmark (90%) Very frequent (99-80%) HP:0000275
2 long face64 54 hallmark (90%) Very frequent (99-80%) HP:0000276
3 macrotia64 54 hallmark (90%) Very frequent (99-80%) HP:0000400
4 strabismus64 54 hallmark (90%) Very frequent (99-80%) HP:0000486
5 thick eyebrow64 54 hallmark (90%) Very frequent (99-80%) HP:0000574
6 seizures64 hallmark (90%) HP:0001250
7 neurological speech impairment64 hallmark (90%) HP:0002167
8 incoordination64 hallmark (90%) HP:0002311
9 decreased body weight64 hallmark (90%) HP:0004325
10 aplasia/hypoplasia of the cerebellum64 54 hallmark (90%) Very frequent (99-80%) HP:0007360
11 cognitive impairment64 hallmark (90%) HP:0100543
12 microcephaly64 54 typical (50%) Frequent (79-30%) HP:0000252
13 ophthalmoparesis64 typical (50%) HP:0000597
14 nystagmus64 54 typical (50%) Frequent (79-30%) HP:0000639
15 autism64 54 typical (50%) Frequent (79-30%) HP:0000717
16 pectus excavatum64 54 typical (50%) Frequent (79-30%) HP:0000767
17 adducted thumb64 54 typical (50%) Frequent (79-30%) HP:0001181
18 gait disturbance64 typical (50%) HP:0001288
19 ventriculomegaly64 54 typical (50%) Frequent (79-30%) HP:0002119
20 cerebral cortical atrophy64 54 typical (50%) Frequent (79-30%) HP:0002120
21 aplasia/hypoplasia of the corpus callosum64 54 typical (50%) Frequent (79-30%) HP:0007370
22 feeding difficulties in infancy64 54 typical (50%) Frequent (79-30%) HP:0008872
23 mandibular prognathia64 54 occasional (7.5%) Occasional (29-5%) HP:0000303
24 deeply set eye64 54 occasional (7.5%) Occasional (29-5%) HP:0000490
25 joint hypermobility64 occasional (7.5%) HP:0001382
26 arthrogryposis multiplex congenita64 54 occasional (7.5%) Occasional (29-5%) HP:0002804
27 skeletal muscle atrophy64 occasional (7.5%) HP:0003202
28 urinary incontinence64 HP:0000020
29 open mouth64 HP:0000194
30 ophthalmoplegia64 54 Frequent (79-30%) HP:0000602
31 narrow chest64 HP:0000774
32 slender finger64 HP:0001238
33 muscular hypotonia64 HP:0001252
34 global developmental delay64 HP:0001263
35 cerebellar atrophy64 54 Very frequent (99-80%) HP:0001272
36 absent speech64 54 Very frequent (99-80%) HP:0001344
37 flexion contracture64 HP:0001371
38 abnormality of the foot64 HP:0001760
39 dysphagia64 54 Frequent (79-30%) HP:0002015
40 truncal ataxia64 54 Very frequent (99-80%) HP:0002078
41 mutism64 54 Frequent (79-30%) HP:0002300
42 drooling64 HP:0002307
43 sleep disturbance64 HP:0002360
44 hyperkinesis64 HP:0002487
45 neuronal loss in central nervous system64 54 Very frequent (99-80%) HP:0002529
46 bowel incontinence64 HP:0002607
47 long nose64 HP:0003189
48 loss of ability to walk in first decade64 HP:0006794
49 intellectual disability, progressive64 HP:0006887
50 photosensitive tonic-clonic seizures64 HP:0007207
51 intellectual disability, severe64 HP:0010864
52 happy demeanor64 HP:0040082
53 abnormality of the nose54 Occasional (29-5%)
54 stereotypy54 Frequent (79-30%)
55 inappropriate laughter54 Frequent (79-30%)
56 abnormality of the thorax54 Frequent (79-30%)
57 dystonia54 Frequent (79-30%)
58 gastroesophageal reflux54 Frequent (79-30%)
59 gait ataxia54 Frequent (79-30%)
60 intellectual disability, profound54 Very frequent (99-80%)
61 generalized seizures54 Very frequent (99-80%)
62 developmental regression54 Very frequent (99-80%)
63 decreased muscle mass54 Occasional (29-5%)
64 cachexia54 Very frequent (99-80%)
65 joint hyperflexibility54 Occasional (29-5%)
66 severe global developmental delay54 Very frequent (99-80%)
67 conspicuously happy disposition54 Frequent (79-30%)
68 death in early adulthood54 Occasional (29-5%)

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


ataxia, drooling, ophthalmoplegia, sleep disturbances, ataxia, truncal

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+4delAAinsCCindelPathogenicrs730882187GRCh38Chr X, 135998188: 135998189
4SLC9A6NM_001042537.1(SLC9A6): c.608_609delAT (p.His203Leufs)deletionPathogenicrs730882188GRCh37Chr X, 135080645: 135080646
5SLC9A6NM_001042537.1(SLC9A6): c.183delG (p.Lys61Asnfs)deletionPathogenicrs587784398GRCh37Chr X, 135067844: 135067844
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_006359.2(SLC9A6): c.430-9_430-5delTTTTAdeletionPathogenicrs796053290GRCh37Chr X, 135080258: 135080262
9SLC9A6NM_001042537: c.916delCundetermined variantPathogenicChr na, -1: -1
10SLC9A6NM_001042537.1(SLC9A6): c.1012_1020delGGTGCTGCT (p.Gly338_Ala340del)deletionPathogenicrs398122849GRCh37Chr X, 135092713: 135092721
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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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