MCID: MNT121
MIFTS: 41

Mental Retardation, X-Linked Syndromic, Christianson Type

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

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

MalaCards integrated aliases 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 71
X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome 12 50 56
X-Linked Intellectual Disability, South African Type 12 50 56
Mental Retardation, X-Linked, Syndromic, Christianson Type 71 69
Mrxsch 12 71
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 71
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 71

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;

OMIM:

54
Inheritance:
x-linked dominant

Miscellaneous:
female carriers may be mildly affected
phenotypic similarities to angelman syndrome


HPO:

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


Classifications:



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 nystagmus, dysphagia and dystonia. 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 : 71 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 microcephaly, impaired ocular movements, severe global developmental delay, developmental regression, hypotonia, abnormal movements, and early-onset seizures of variable types. Female carriers may be mildly affected (summary by Schroer et al., 2010 and Pescosolido et al., 2014). (300243)

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:

(show all 12)
id Related Disease Score Top Affiliating Genes
1 mental retardation x-linked, south african type 12.4
2 slc9a6-related syndromic mental retardation 10.8
3 status epilepticus 9.8
4 retinitis 9.8
5 neuronitis 9.8
6 corneal dystrophy, fuchs endothelial, 3 9.7 CDKL5 SLC9A6
7 atypical autism 9.5 CDKL5 SLC9A9
8 encephalopathy, neonatal severe 9.5 CDKL5 FOXG1
9 peyronie's disease 9.4 CDKL5 FOXG1
10 roifman-chitayat syndrome 9.3 CDKL5 SLC9A6
11 benign essential hypertension 9.1 CDKL5 FOXG1 SLC9A6
12 panhypopituitarism, x-linked 8.0 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 via clinical synopsis from OMIM:

54

Muscle Soft Tissue:
hypotonia
amyotrophy

Growth- Other:
developmental delay

Head And Neck- Ears:
large ears

Neurologic- Central Nervous System:
truncal ataxia
cerebellar atrophy
lack of speech
hyperkinetic movements
mutism
more
Head And Neck- Mouth:
open mouth
drooling

Head And Neck- Eyes:
squint
bushy eyebrows
ophthalmoplegia
deep, sunken eyes

Skin Nails & Hair- Hair:
bushy eyebrows

Head And Neck- Face:
pointed jaw
long, narrow face
square, prognathic jaw

Head And Neck- Nose:
long, straight nose

Abdomen- Gastroin testinal:
dysphagia
incontinence

Head And Neck- Head:
microcephaly

Chest- External Features:
narrow chest

Skeletal- Limbs:
contractures

Skeletal- Hands:
adducted thumbs
long, thin fingers

Neurologic- Behavioral Psychiatric Manifestations:
autistic features
happy demeanor
easily provoked laughter

Genitourinary- Bladder:
incontinence

Growth- Weight:
low weight (third percentile)

Skeletal- Feet:
long, thin toes


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 nystagmus 56 32 frequent (33%) Frequent (79-30%) HP:0000639
2 dysphagia 56 32 frequent (33%) Frequent (79-30%) HP:0002015
3 dystonia 56 32 frequent (33%) Frequent (79-30%) HP:0001332
4 strabismus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000486
5 ventriculomegaly 56 32 frequent (33%) Frequent (79-30%) HP:0002119
6 absent speech 56 32 hallmark (90%) Very frequent (99-80%) HP:0001344
7 generalized seizures 56 32 hallmark (90%) Very frequent (99-80%) HP:0002197
8 microcephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000252
9 long face 56 32 hallmark (90%) Very frequent (99-80%) HP:0000276
10 arthrogryposis multiplex congenita 56 32 occasional (7.5%) Occasional (29-5%) HP:0002804
11 gastroesophageal reflux 56 32 frequent (33%) Frequent (79-30%) HP:0002020
12 autism 56 32 frequent (33%) Frequent (79-30%) HP:0000717
13 cerebral cortical atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0002120
14 gait ataxia 56 32 frequent (33%) Frequent (79-30%) HP:0002066
15 truncal ataxia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002078
16 cerebellar atrophy 56 32 hallmark (90%) Very frequent (99-80%) HP:0001272
17 pectus excavatum 56 32 frequent (33%) Frequent (79-30%) HP:0000767
18 narrow face 56 32 hallmark (90%) Very frequent (99-80%) HP:0000275
19 joint hyperflexibility 56 32 occasional (7.5%) Occasional (29-5%) HP:0005692
20 intellectual disability, profound 56 32 hallmark (90%) Very frequent (99-80%) HP:0002187
21 feeding difficulties in infancy 56 32 frequent (33%) Frequent (79-30%) HP:0008872
22 developmental regression 56 32 hallmark (90%) Very frequent (99-80%) HP:0002376
23 ophthalmoplegia 56 32 frequent (33%) Frequent (79-30%) HP:0000602
24 mutism 56 32 frequent (33%) Frequent (79-30%) HP:0002300
25 decreased muscle mass 56 32 occasional (7.5%) Occasional (29-5%) HP:0003199
26 cachexia 56 32 hallmark (90%) Very frequent (99-80%) HP:0004326
27 macrotia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000400
28 inappropriate laughter 56 32 frequent (33%) Frequent (79-30%) HP:0000748
29 adducted thumb 56 32 frequent (33%) Frequent (79-30%) HP:0001181
30 mandibular prognathia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000303
31 thick eyebrow 56 32 hallmark (90%) Very frequent (99-80%) HP:0000574
32 stereotypy 56 32 frequent (33%) Frequent (79-30%) HP:0000733
33 severe global developmental delay 56 32 hallmark (90%) Very frequent (99-80%) HP:0011344
34 aplasia/hypoplasia of the cerebellum 56 32 hallmark (90%) Very frequent (99-80%) HP:0007360
35 deeply set eye 56 32 occasional (7.5%) Occasional (29-5%) HP:0000490
36 abnormality of the nose 56 32 occasional (7.5%) Occasional (29-5%) HP:0000366
37 aplasia/hypoplasia of the corpus callosum 56 32 frequent (33%) Frequent (79-30%) HP:0007370
38 conspicuously happy disposition 56 32 frequent (33%) Frequent (79-30%) HP:0100024
39 neuronal loss in central nervous system 56 32 hallmark (90%) Very frequent (99-80%) HP:0002529
40 intellectual disability, severe 32 HP:0010864
41 global developmental delay 32 HP:0001263
42 narrow chest 32 HP:0000774
43 open mouth 32 HP:0000194
44 urinary incontinence 32 HP:0000020
45 long nose 32 HP:0003189
46 happy demeanor 32 HP:0040082
47 muscular hypotonia 32 HP:0001252
48 drooling 32 HP:0002307
49 hyperkinesis 32 HP:0002487
50 sleep disturbance 32 HP:0002360

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 FOXG1 CDKL5

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.608_609delAT (p.His203Leufs) deletion Pathogenic rs730882188 GRCh37 Chromosome X, 135080645: 135080646
2 SLC9A6 NM_001042537.1(SLC9A6): c.860_865delAAAGTG (p.Glu287_Ser288del) deletion Pathogenic rs886037619 GRCh38 Chromosome X, 136002174: 136002179
3 SLC9A6 NM_001042537.1(SLC9A6): c.1498C> T (p.Arg500Ter) single nucleotide variant Pathogenic rs122461162 GRCh37 Chromosome X, 135106524: 135106524
4 SLC9A6 NM_001042537.1(SLC9A6): c.603+3_603+4delAAinsCC indel Pathogenic rs730882187 GRCh37 Chromosome X, 135080347: 135080348
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 GRCh37 Chromosome X, 135067844: 135067844
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
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40 MedGen
42 MeSH
43 MESH via Orphanet
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48 NDF-RT
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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