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, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Mental Retardation, X-Linked Syndromic, Christianson Type:

Name: Mental Retardation, X-Linked Syndromic, Christianson Type 51 11 12
Christianson Syndrome 11 47 25 53 26
X-Linked Angelman-Like Syndrome 11 47 53 69
X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome 11 47 53
Mental Retardation, X-Linked, Syndromic, Christianson Type 51 69 67
X-Linked Intellectual Disability, South African Type 11 47 53
Mrxsch 11 69
X-Linked Intellectual Disability - Craniofacial Dysmorphism - Epilepsy - Ophthalmoplegia - Cerebellar Atrophy 47
Intellectual Disability Microcephaly Epilepsy and Ataxia Syndrome 47
 
Mental Retardation, Microcephaly, Epilepsy, and Ataxia Syndrome 11
Intellectual Disability X-Linked Syndromic Christianson Type 47
Mental Retardation Microcephaly Epilepsy and Ataxia Syndrome 69
Intellectual Deficit, X-Linked, South African Type 25
Mental Retardation X-Linked, South African Type 38
Angelman-Like Syndrome, X-Linked 25
Angelman-Like Syndrome X-Linked 47
Mrxs-Christianson 69
Mrxs Christianson 47

Characteristics:

Orphanet epidemiological data:

53
christianson syndrome:
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: young Adult

HPO:

63
mental retardation, x-linked syndromic, christianson type:
Inheritance: x-linked dominant inheritance

Classifications:



External Ids:

OMIM51 300243
Disease Ontology11 DOID:0060825
ICD1029 Q87.8
Orphanet53 ORPHA85278
MESH via Orphanet39 C537450
UMLS via Orphanet68 C1846130
ICD10 via Orphanet30 Q87.8
MedGen36 C2678194
UMLS67 C1846130

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

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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.

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.

OMIM:51 Christianson syndrome is an X-linked neurodevelopmental and progressive mental retardation syndrome characterized by... (300243) more...

UniProtKB/Swiss-Prot:69 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 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:

 63 53 (show all 68)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 narrow face63 53 hallmark (90%) Very frequent (99-80%) HP:0000275
2 long face63 53 hallmark (90%) Very frequent (99-80%) HP:0000276
3 macrotia63 53 hallmark (90%) Very frequent (99-80%) HP:0000400
4 strabismus63 53 hallmark (90%) Very frequent (99-80%) HP:0000486
5 thick eyebrow63 53 hallmark (90%) Very frequent (99-80%) HP:0000574
6 seizures63 hallmark (90%) HP:0001250
7 neurological speech impairment63 hallmark (90%) HP:0002167
8 incoordination63 hallmark (90%) HP:0002311
9 decreased body weight63 hallmark (90%) HP:0004325
10 aplasia/hypoplasia of the cerebellum63 53 hallmark (90%) Very frequent (99-80%) HP:0007360
11 cognitive impairment63 hallmark (90%) HP:0100543
12 microcephaly63 53 typical (50%) Frequent (79-30%) HP:0000252
13 ophthalmoparesis63 typical (50%) HP:0000597
14 nystagmus63 53 typical (50%) Frequent (79-30%) HP:0000639
15 autism63 53 typical (50%) Frequent (79-30%) HP:0000717
16 pectus excavatum63 53 typical (50%) Frequent (79-30%) HP:0000767
17 adducted thumb63 53 typical (50%) Frequent (79-30%) HP:0001181
18 gait disturbance63 typical (50%) HP:0001288
19 ventriculomegaly63 53 typical (50%) Frequent (79-30%) HP:0002119
20 cerebral cortical atrophy63 53 typical (50%) Frequent (79-30%) HP:0002120
21 aplasia/hypoplasia of the corpus callosum63 53 typical (50%) Frequent (79-30%) HP:0007370
22 feeding difficulties in infancy63 53 typical (50%) Frequent (79-30%) HP:0008872
23 mandibular prognathia63 53 occasional (7.5%) Occasional (29-5%) HP:0000303
24 deeply set eye63 53 occasional (7.5%) Occasional (29-5%) HP:0000490
25 joint hypermobility63 occasional (7.5%) HP:0001382
26 arthrogryposis multiplex congenita63 53 occasional (7.5%) Occasional (29-5%) HP:0002804
27 skeletal muscle atrophy63 occasional (7.5%) HP:0003202
28 urinary incontinence63 HP:0000020
29 open mouth63 HP:0000194
30 ophthalmoplegia63 53 Frequent (79-30%) HP:0000602
31 narrow chest63 HP:0000774
32 slender finger63 HP:0001238
33 muscular hypotonia63 HP:0001252
34 global developmental delay63 HP:0001263
35 cerebellar atrophy63 53 Very frequent (99-80%) HP:0001272
36 absent speech63 53 Very frequent (99-80%) HP:0001344
37 flexion contracture63 HP:0001371
38 abnormality of the foot63 HP:0001760
39 dysphagia63 53 Frequent (79-30%) HP:0002015
40 truncal ataxia63 53 Very frequent (99-80%) HP:0002078
41 mutism63 53 Frequent (79-30%) HP:0002300
42 drooling63 HP:0002307
43 sleep disturbance63 HP:0002360
44 hyperkinesis63 HP:0002487
45 neuronal loss in central nervous system63 53 Very frequent (99-80%) HP:0002529
46 bowel incontinence63 HP:0002607
47 long nose63 HP:0003189
48 loss of ability to walk in first decade63 HP:0006794
49 intellectual disability, progressive63 HP:0006887
50 photosensitive tonic-clonic seizures63 HP:0007207
51 intellectual disability, severe63 HP:0010864
52 happy demeanor63 HP:0040082
53 abnormality of the nose53 Occasional (29-5%)
54 stereotypy53 Frequent (79-30%)
55 inappropriate laughter53 Frequent (79-30%)
56 abnormality of the thorax53 Frequent (79-30%)
57 dystonia53 Frequent (79-30%)
58 gastroesophageal reflux53 Frequent (79-30%)
59 gait ataxia53 Frequent (79-30%)
60 intellectual disability, profound53 Very frequent (99-80%)
61 generalized seizures53 Very frequent (99-80%)
62 developmental regression53 Very frequent (99-80%)
63 decreased muscle mass53 Occasional (29-5%)
64 cachexia53 Very frequent (99-80%)
65 joint hyperflexibility53 Occasional (29-5%)
66 severe global developmental delay53 Very frequent (99-80%)
67 conspicuously happy disposition53 Frequent (79-30%)
68 death in early adulthood53 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 Syndrome26

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:

35
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 (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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet