MCID: MNT121
MIFTS: 23

Mental Retardation, X-Linked Syndromic, Christianson Type malady

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

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

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Sources:
50OMIM, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

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

Name: Mental Retardation, X-Linked Syndromic, Christianson Type 50 12
Mental Retardation, X-Linked, Syndromic, Christianson Type 50 68
X-Linked Angelman-Like Syndrome 52 68
X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome 52
Mental Retardation Microcephaly Epilepsy and Ataxia Syndrome 68
 
X-Linked Intellectual Disability, South African Type 52
Christianson Syndrome 52
Mrxs-Christianson 68
Mrxsch 68

Characteristics:

Orphanet epidemiological data:

52
x-linked angelman-like syndrome:
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: young Adult

HPO:

62
mental retardation, x-linked syndromic, christianson type:
Inheritance: x-linked dominant inheritance


Classifications:



External Ids:

OMIM50 300243
Orphanet52 ORPHA85278
ICD10 via Orphanet29 Q87.8
MESH via Orphanet38 C537450
UMLS via Orphanet67 C1846130
MedGen35 C2678194
MeSH37 D038901

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

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OMIM:50 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 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.

UniProtKB/Swiss-Prot:68 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 syndrome11.3
2slc9a6-related syndromic mental retardation11.3

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

Symptoms:

 52 (show all 41)
  • microcephaly
  • narrow face
  • long face
  • mandibular prognathia
  • abnormality of the nose
  • macrotia
  • strabismus
  • deeply set eye
  • thick eyebrow
  • ophthalmoplegia
  • nystagmus
  • autism
  • stereotypic behavior
  • inappropriate laughter
  • abnormality of the thorax
  • pectus excavatum
  • adducted thumb
  • cerebellar atrophy
  • dystonia
  • absent speech
  • dysphagia
  • gastroesophageal reflux
  • gait ataxia
  • truncal ataxia
  • ventriculomegaly
  • cerebral cortical atrophy
  • intellectual disability, profound
  • generalized seizures
  • mutism
  • developmental regression
  • neuronal loss in central nervous system
  • arthrogryposis multiplex congenita
  • decreased muscle mass
  • cachexia
  • joint hyperflexibility
  • aplasia/hypoplasia of the cerebellum
  • aplasia/hypoplasia of the corpus callosum
  • feeding difficulties in infancy
  • severe global developmental delay
  • conspicuously happy disposition
  • death in early adulthood

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

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

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:

34
Skeletal muscle, Cerebellum, Eye

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)deletionPathogenicrs587784398GRCh38Chr X, 135985685: 135985685
6SLC9A6NM_001042537.1(SLC9A6): c.2078T> G (p.Leu693Ter)single nucleotide variantPathogenicrs587784399GRCh38Chr X, 136044696: 136044696
7SLC9A6NM_001042537.1(SLC9A6): c.604-1G> Asingle nucleotide variantPathogenicrs797044508GRCh37Chr 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.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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet