MCID: MNT121
MIFTS: 20

Mental Retardation, X-Linked Syndromic, Christianson Type malady

Categories: Genetic diseases (common), Neuronal diseases, Mental diseases

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

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

Name: Mental Retardation, X-Linked Syndromic, Christianson Type 49 11
Mental Retardation, X-Linked, Syndromic, Christianson Type 67 65
Mental Retardation Microcephaly Epilepsy and Ataxia Syndrome 67
 
X-Linked Angelman-Like Syndrome 67
Mrxs-Christianson 67
Mrxsch 67

Characteristics:

HPO:

61
mental retardation, x-linked syndromic, christianson type:
Inheritance: x-linked dominant inheritance


Classifications:



External Ids:

OMIM49 300243
MedGen34 C2678194
MeSH36 D038901
UMLS65 C2678194

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

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OMIM:49 Christianson syndrome is an X-linked neurodevelopmental and progressive mental retardation syndrome characterized by... (300243) more...

MalaCards based summary: Mental Retardation, X-Linked Syndromic, Christianson Type, also known as mental retardation, x-linked, syndromic, christianson type, is related to christianson syndrome and slc9a6-related syndromic mental retardation, and has symptoms including cognitive impairment, aplasia/hypoplasia of the cerebellum and decreased body weight. An important gene associated with Mental Retardation, X-Linked Syndromic, Christianson Type is SLC9A6 (Solute Carrier Family 9 Member A6). Affiliated tissues include eye, cerebellum and skeletal muscle.

UniProtKB/Swiss-Prot:67 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
1christianson syndrome11.7
2slc9a6-related syndromic mental retardation11.7

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

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Symptoms by clinical synopsis from OMIM:

300243

Clinical features from OMIM:

300243

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

(show all 62)
id Description Frequency HPO Source Accession
1 cognitive impairment hallmark (90%) HP:0100543
2 aplasia/hypoplasia of the cerebellum hallmark (90%) HP:0007360
3 decreased body weight hallmark (90%) HP:0004325
4 incoordination hallmark (90%) HP:0002311
5 neurological speech impairment hallmark (90%) HP:0002167
6 seizures hallmark (90%) HP:0001250
7 thick eyebrow hallmark (90%) HP:0000574
8 strabismus hallmark (90%) HP:0000486
9 macrotia hallmark (90%) HP:0000400
10 long face hallmark (90%) HP:0000276
11 narrow face hallmark (90%) HP:0000275
12 feeding difficulties in infancy typical (50%) HP:0008872
13 aplasia/hypoplasia of the corpus callosum typical (50%) HP:0007370
14 cerebral cortical atrophy typical (50%) HP:0002120
15 ventriculomegaly typical (50%) HP:0002119
16 gait disturbance typical (50%) HP:0001288
17 adducted thumb typical (50%) HP:0001181
18 pectus excavatum typical (50%) HP:0000767
19 autism typical (50%) HP:0000717
20 nystagmus typical (50%) HP:0000639
21 ophthalmoparesis typical (50%) HP:0000597
22 microcephaly typical (50%) HP:0000252
23 skeletal muscle atrophy occasional (7.5%) HP:0003202
24 arthrogryposis multiplex congenita occasional (7.5%) HP:0002804
25 joint hypermobility occasional (7.5%) HP:0001382
26 deeply set eye occasional (7.5%) HP:0000490
27 mandibular prognathia occasional (7.5%) HP:0000303
28 happy demeanor HP:0040082
29 intellectual disability, severe HP:0010864
30 photosensitive tonic-clonic seizures HP:0007207
31 intellectual disability, progressive HP:0006887
32 loss of ability to walk in first decade HP:0006794
33 decreased body weight HP:0004325
34 skeletal muscle atrophy HP:0003202
35 long nose HP:0003189
36 bowel incontinence HP:0002607
37 neuronal loss in central nervous system HP:0002529
38 hyperkinesis HP:0002487
39 sleep disturbance HP:0002360
40 drooling HP:0002307
41 mutism HP:0002300
42 truncal ataxia HP:0002078
43 dysphagia HP:0002015
44 abnormality of the foot HP:0001760
45 flexion contracture HP:0001371
46 absent speech HP:0001344
47 cerebellar atrophy HP:0001272
48 global developmental delay HP:0001263
49 muscular hypotonia HP:0001252
50 slender finger HP:0001238
51 adducted thumb HP:0001181
52 narrow chest HP:0000774
53 ophthalmoplegia HP:0000602
54 thick eyebrow HP:0000574
55 strabismus HP:0000486
56 macrotia HP:0000400
57 mandibular prognathia HP:0000303
58 long face HP:0000276
59 narrow face HP:0000275
60 microcephaly HP:0000252
61 open mouth HP:0000194
62 urinary incontinence HP:0000020

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

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

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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:

33
Eye, Cerebellum, Skeletal muscle

Animal Models for Mental Retardation, X-Linked Syndromic, Christianson Type or affiliated genes

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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
id Gene Variation Type Significance SNP ID Assembly Location
1SLC9A6SLC9A6, 6-BP DEL, NT764deletionPathogenic
2SLC9A6NM_001042537.1(SLC9A6): c.1498C> T (p.Arg500Ter)single nucleotide variantPathogenicrs122461162GRCh37Chr 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)deletionPathogenicrs587784398GRCh37Chr X, 135067844: 135067844
6SLC9A6NM_001042537.1(SLC9A6): c.2078T> G (p.Leu693Ter)single nucleotide variantPathogenicrs587784399GRCh37Chr X, 135126855: 135126855
7SLC9A6NM_001042537.1(SLC9A6): c.604-1G> Asingle nucleotide variantPathogenicrs797044508GRCh37Chr X, 135080640: 135080640
8SLC9A6NM_001042537.1(SLC9A6): c.1012_1020delGGTGCTGCT (p.Gly338_Ala340del)deletionPathogenicrs398122849GRCh37Chr X, 135092713: 135092721
9SLC9A6NM_001042537.1(SLC9A6): c.1639G> T (p.Glu547Ter)single nucleotide variantPathogenicrs398123003GRCh37Chr 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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet