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

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

Name: Mental Retardation, X-Linked Syndromic, Christianson Type 54 12 13
Christianson Syndrome 12 50 25 56 29 14
X-Linked Angelman-Like Syndrome 12 50 56 66
X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome 12 50 56
Mental Retardation, X-Linked, Syndromic, Christianson Type 54 66 69
X-Linked Intellectual Disability, South African Type 12 50 56
Mrxsch 12 66
X-Linked Intellectual Disability - Craniofacial Dysmorphism - Epilepsy - Ophthalmoplegia - Cerebellar Atrophy 50
Intellectual Disability Microcephaly Epilepsy and Ataxia Syndrome 50
Mental Retardation, Microcephaly, Epilepsy, and Ataxia Syndrome 12
Intellectual Disability X-Linked Syndromic Christianson Type 50
Mental Retardation Microcephaly Epilepsy and Ataxia Syndrome 66
Intellectual Deficit, X-Linked, South African Type 25
Mental Retardation X-Linked, South African Type 42
Angelman-Like Syndrome, X-Linked 25
Angelman-Like Syndrome X-Linked 50
Mrxs Christianson 50
Mrxs-Christianson 66

Characteristics:

Orphanet epidemiological data:

56
christianson syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: young Adult;

HPO:

32
mental retardation, x-linked syndromic, christianson type:
Mortality/Aging death in early adulthood
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM 54 300243
Disease Ontology 12 DOID:0060825
ICD10 33 Q87.8
Orphanet 56 ORPHA85278
MESH via Orphanet 43 C537450
UMLS via Orphanet 70 C1846130
ICD10 via Orphanet 34 Q87.8
MedGen 40 C2678194
UMLS 69 C1846130

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

NIH Rare Diseases : 50 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 cachexia, dystonia 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 eye, skeletal muscle and cerebellum, and related phenotype is taste/olfaction.

UniProtKB/Swiss-Prot : 66 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 : 54 Christianson syndrome is an X-linked neurodevelopmental and progressive mental retardation syndrome characterized by... (300243) more...

Disease Ontology : 12 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

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

id Related Disease Score Top Affiliating Genes
1 mental retardation x-linked, south african type 12.4
2 slc9a6-related syndromic mental retardation 11.2
3 carnosinemia 9.9 CDKL5 SLC9A6
4 encephalopathy, neonatal severe 9.8 CDKL5 FOXG1
5 pulmonary hypertension 9.8 CDKL5 FOXG1
6 spastic paraplegia 6, autosomal dominant 9.7 CDKL5 SLC9A6
7 sexual disorder 9.7 CDKL5 FOXG1 SLC9A9
8 panhypopituitarism, x-linked 9.3 CDKL5 FOXG1 KANSL1 SLC9A6 SLC9A9

Graphical network of the top 20 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

Symptoms by clinical synopsis from OMIM:

300243

Clinical features from OMIM:

300243

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

56 32 (show top 50) (show all 61)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cachexia 56 32 Very frequent (99-80%) HP:0004326
2 dystonia 56 32 Frequent (79-30%) HP:0001332
3 ophthalmoplegia 56 32 Frequent (79-30%) HP:0000602
4 gait ataxia 56 32 Frequent (79-30%) HP:0002066
5 pectus excavatum 56 32 Frequent (79-30%) HP:0000767
6 nystagmus 56 32 Frequent (79-30%) HP:0000639
7 dysphagia 56 32 Frequent (79-30%) HP:0002015
8 developmental regression 56 32 Very frequent (99-80%) HP:0002376
9 mandibular prognathia 56 32 Occasional (29-5%) HP:0000303
10 macrotia 56 32 Very frequent (99-80%) HP:0000400
11 microcephaly 56 32 Frequent (79-30%) HP:0000252
12 thick eyebrow 56 32 Very frequent (99-80%) HP:0000574
13 gastroesophageal reflux 56 32 Frequent (79-30%) HP:0002020
14 feeding difficulties in infancy 56 32 Frequent (79-30%) HP:0008872
15 stereotypy 56 32 Frequent (79-30%) HP:0000733
16 decreased muscle mass 56 32 Occasional (29-5%) HP:0003199
17 strabismus 56 32 Very frequent (99-80%) HP:0000486
18 joint hyperflexibility 56 32 Occasional (29-5%) HP:0005692
19 severe global developmental delay 56 32 Very frequent (99-80%) HP:0011344
20 absent speech 56 32 Very frequent (99-80%) HP:0001344
21 autism 56 32 Frequent (79-30%) HP:0000717
22 ventriculomegaly 56 32 Frequent (79-30%) HP:0002119
23 cerebral cortical atrophy 56 32 Frequent (79-30%) HP:0002120
24 arthrogryposis multiplex congenita 56 32 Occasional (29-5%) HP:0002804
25 aplasia/hypoplasia of the cerebellum 56 32 Very frequent (99-80%) HP:0007360
26 deeply set eye 56 32 Occasional (29-5%) HP:0000490
27 generalized seizures 56 32 Very frequent (99-80%) HP:0002197
28 narrow face 56 32 Very frequent (99-80%) HP:0000275
29 long face 56 32 Very frequent (99-80%) HP:0000276
30 intellectual disability, profound 56 32 Very frequent (99-80%) HP:0002187
31 adducted thumb 56 32 Frequent (79-30%) HP:0001181
32 abnormality of the nose 56 32 Occasional (29-5%) HP:0000366
33 cerebellar atrophy 56 32 Very frequent (99-80%) HP:0001272
34 aplasia/hypoplasia of the corpus callosum 56 32 Frequent (79-30%) HP:0007370
35 conspicuously happy disposition 56 32 Frequent (79-30%) HP:0100024
36 neuronal loss in central nervous system 56 32 Very frequent (99-80%) HP:0002529
37 mutism 56 32 Frequent (79-30%) HP:0002300
38 truncal ataxia 56 32 Very frequent (99-80%) HP:0002078
39 inappropriate laughter 56 32 Frequent (79-30%) HP:0000748
40 muscular hypotonia 32 HP:0001252
41 sleep disturbance 32 HP:0002360
42 bowel incontinence 32 HP:0002607
43 global developmental delay 32 HP:0001263
44 flexion contracture 32 HP:0001371
45 intellectual disability, severe 32 HP:0010864
46 skeletal muscle atrophy 32 HP:0003202
47 narrow chest 32 HP:0000774
48 abnormality of the thorax 56 Frequent (79-30%)
49 abnormality of the foot 32 HP:0001760
50 death in early adulthood 56 Occasional (29-5%)

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 taste/olfaction MP:0005394 8.62 CDKL5 FOXG1

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

Search Clinical Trials , 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

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

id Genetic test Affiliating Genes
1 Christianson Syndrome 29

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

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

39
Eye, Skeletal Muscle, Cerebellum

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

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

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

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC9A6 NM_001042537.1(SLC9A6): c.860_865delAAAGTG (p.Glu287_Ser288del) deletion Pathogenic rs886037619 GRCh38 Chromosome X, 136002174: 136002179
2 SLC9A6 NM_001042537.1(SLC9A6): c.1498C> T (p.Arg500Ter) single nucleotide variant Pathogenic rs122461162 GRCh37 Chromosome X, 135106524: 135106524
3 SLC9A6 NM_001042537.1(SLC9A6): c.603+3_603+4delAAinsCC indel Pathogenic rs730882187 GRCh37 Chromosome X, 135080347: 135080348
4 SLC9A6 NM_001042537.1(SLC9A6): c.608_609delAT (p.His203Leufs) deletion Pathogenic rs730882188 GRCh37 Chromosome X, 135080645: 135080646
5 SLC9A6 NM_001042537.1(SLC9A6): c.1012_1020delGGTGCTGCT (p.Gly338_Ala340del) deletion Pathogenic rs398122849 GRCh37 Chromosome X, 135092713: 135092721
6 SLC9A6 NM_001042537.1(SLC9A6): c.1639G> T (p.Glu547Ter) single nucleotide variant Pathogenic rs398123003 GRCh37 Chromosome X, 135112313: 135112313
7 SLC9A6 NM_001042537.1(SLC9A6): c.183delG (p.Lys61Asnfs) deletion Pathogenic rs587784398 GRCh38 Chromosome X, 135985685: 135985685
8 SLC9A6 NM_001042537.1(SLC9A6): c.2078T> G (p.Leu693Ter) single nucleotide variant Pathogenic rs587784399 GRCh37 Chromosome X, 135126855: 135126855
9 SLC9A6 NM_001042537.1(SLC9A6): c.604-1G> A single nucleotide variant Pathogenic rs797044508 GRCh37 Chromosome X, 135080640: 135080640
10 SLC9A6 NM_001042537: c.916delC undetermined variant Pathogenic
11 SLC9A6 NM_001042537.1(SLC9A6): c.882delT (p.Ala295Profs) deletion Pathogenic rs1057519394 GRCh37 Chromosome X, 135084355: 135084355

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

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

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

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

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

id Name GO ID Score Top Affiliating Genes
1 recycling endosome GO:0055037 8.62 SLC9A6 SLC9A9

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

id Name GO ID Score Top Affiliating Genes
1 potassium ion transmembrane transport GO:0071805 9.43 SLC9A6 SLC9A9
2 sodium ion transport GO:0006814 9.4 SLC9A6 SLC9A9
3 sodium ion transmembrane transport GO:0035725 9.37 SLC9A6 SLC9A9
4 cation transport GO:0006812 9.32 SLC9A6 SLC9A9
5 hydrogen ion transmembrane transport GO:1902600 9.26 SLC9A6 SLC9A9
6 regulation of intracellular pH GO:0051453 9.16 SLC9A6 SLC9A9
7 regulation of pH GO:0006885 8.96 SLC9A6 SLC9A9
8 sodium ion import across plasma membrane GO:0098719 8.62 SLC9A6 SLC9A9

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

id Name GO ID Score Top Affiliating Genes
1 antiporter activity GO:0015297 9.26 SLC9A6 SLC9A9
2 solute:proton antiporter activity GO:0015299 9.16 SLC9A6 SLC9A9
3 sodium:proton antiporter activity GO:0015385 8.96 SLC9A6 SLC9A9
4 potassium:proton antiporter activity GO:0015386 8.62 SLC9A6 SLC9A9

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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