MRXSCH
MCID: MNT302
MIFTS: 31

Mental Retardation, X-Linked, Syndromic, Christianson Type (MRXSCH)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare 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 57 75 40 73
Mental Retardation, X-Linked Syndromic, Christianson Type 57 13
X-Linked Angelman-Like Syndrome 59 75
Mrxsch 57 75
X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome 59
Mental Retardation, Microcephaly, Epilepsy, and Ataxia Syndrome 57
Mental Retardation Microcephaly Epilepsy and Ataxia Syndrome 75
X-Linked Intellectual Disability, South African Type 59
Angelman-Like Syndrome, X-Linked 57
Christianson Syndrome 59
Mrxs-Christianson 75

Characteristics:

Orphanet epidemiological data:

59
christianson syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: young Adult;

OMIM:

57
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:
Inheritance x-linked dominant inheritance


Classifications:



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

OMIM : 57 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)

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 status epilepticus, and has symptoms including ataxia, ophthalmoplegia and sleep disturbances. 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, and related phenotypes are dysphagia and mandibular prognathia

UniProtKB/Swiss-Prot : 75 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

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

# Related Disease Score Top Affiliating Genes
1 christianson syndrome 11.7
2 status epilepticus 10.2
3 alacrima, achalasia, and mental retardation syndrome 10.0
4 retinitis 10.0

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

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
dysphagia
incontinence

Head And Neck Head:
microcephaly

Head And Neck Mouth:
open mouth
drooling

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

Muscle Soft Tissue:
hypotonia
amyotrophy

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

Genitourinary Bladder:
incontinence

Skeletal Limbs:
contractures

Head And Neck Nose:
long, straight nose

Neurologic Central Nervous System:
sleep disturbance
truncal ataxia
cerebellar atrophy
mutism
lack of speech
more
Chest External Features:
narrow chest

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

Growth Other:
developmental delay

Head And Neck Ears:
large ears

Skeletal Hands:
adducted thumbs
long, thin fingers

Skin Nails Hair Hair:
bushy eyebrows

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:

59 32 (show top 50) (show all 61)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 59 32 Frequent (79-30%) HP:0002015
2 mandibular prognathia 59 32 Occasional (29-5%) HP:0000303
3 macrotia 59 32 Very frequent (99-80%) HP:0000400
4 microcephaly 59 32 Frequent (79-30%) HP:0000252
5 thick eyebrow 59 32 Very frequent (99-80%) HP:0000574
6 strabismus 59 32 Very frequent (99-80%) HP:0000486
7 absent speech 59 32 Very frequent (99-80%) HP:0001344
8 narrow face 59 32 Very frequent (99-80%) HP:0000275
9 long face 59 32 Very frequent (99-80%) HP:0000276
10 adducted thumb 59 32 Frequent (79-30%) HP:0001181
11 truncal ataxia 59 32 Very frequent (99-80%) HP:0002078
12 cerebellar atrophy 59 32 Very frequent (99-80%) HP:0001272
13 ophthalmoplegia 59 32 Frequent (79-30%) HP:0000602
14 neuronal loss in central nervous system 59 32 Very frequent (99-80%) HP:0002529
15 mutism 59 32 Frequent (79-30%) HP:0002300
16 pectus excavatum 59 Frequent (79-30%)
17 nystagmus 59 Frequent (79-30%)
18 sleep disturbance 32 HP:0002360
19 developmental regression 59 Very frequent (99-80%)
20 bowel incontinence 32 HP:0002607
21 global developmental delay 32 HP:0001263
22 flexion contracture 32 HP:0001371
23 gastroesophageal reflux 59 Frequent (79-30%)
24 feeding difficulties in infancy 59 Frequent (79-30%)
25 stereotypy 59 Frequent (79-30%)
26 decreased muscle mass 59 Occasional (29-5%)
27 intellectual disability, severe 32 HP:0010864
28 skeletal muscle atrophy 32 HP:0003202
29 narrow chest 32 HP:0000774
30 joint hyperflexibility 59 Occasional (29-5%)
31 abnormality of the thorax 59 Frequent (79-30%)
32 severe global developmental delay 59 Very frequent (99-80%)
33 autism 59 Frequent (79-30%)
34 gait ataxia 59 Frequent (79-30%)
35 abnormality of the foot 32 HP:0001760
36 dystonia 59 Frequent (79-30%)
37 ventriculomegaly 59 Frequent (79-30%)
38 cerebral cortical atrophy 59 Frequent (79-30%)
39 arthrogryposis multiplex congenita 59 Occasional (29-5%)
40 cachexia 59 Very frequent (99-80%)
41 aplasia/hypoplasia of the cerebellum 59 Very frequent (99-80%)
42 death in early adulthood 59 Occasional (29-5%)
43 intellectual disability, progressive 32 HP:0006887
44 deeply set eye 59 Occasional (29-5%)
45 generalized seizures 59 Very frequent (99-80%)
46 photosensitive tonic-clonic seizures 32 HP:0007207
47 open mouth 32 HP:0000194
48 intellectual disability, profound 59 Very frequent (99-80%)
49 slender finger 32 HP:0001238
50 decreased body weight 32 HP:0004325

UMLS symptoms related to Mental Retardation, X-Linked, Syndromic, Christianson Type:


ataxia, ophthalmoplegia, sleep disturbances, ataxia, truncal

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

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, Syndromic, Christianson Type

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

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

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

41
Eye, Cerebellum, Skeletal Muscle

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

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

(show all 19)
# Title Authors Year
1
A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome. ( 30296617 )
2019
2
Pathobiology of Christianson syndrome: Linking disrupted endosomal-lysosomal function with intellectual disability and sensory impairments. ( 29772390 )
2018
3
Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome? ( 30126759 )
2018
4
Mixed Neurodevelopmental and Neurodegenerative Pathology in<i>Nhe6</i>-Null Mouse Model of Christianson Syndrome. ( 29349289 )
2017
5
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome. ( 27256868 )
2016
6
A Christianson syndrome-linked deletion mutation (a88(287)ES(288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death. ( 27590723 )
2016
7
X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities. ( 26515654 )
2015
8
Novel endosomal mechanisms in human axonal growth mediated by Christianson syndrome protein NHE6. ( 26531385 )
2015
9
REMOVED: Novel endosomal mechanisms in human axonal growth mediated by Christianson syndrome protein NHE6. ( 29887063 )
2015
10
Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome. ( 25044251 )
2014
11
Inaugural Christianson Syndrome Association conference: families meeting for the first time. ( 25273398 )
2014
12
A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES). ( 24630051 )
2014
13
Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum. ( 22541666 )
2013
14
Christianson syndrome protein NHE6 modulates TrkB endosomal signaling required for neuronal circuit development. ( 24035762 )
2013
15
Novel SLC9A6 mutations in two families with Christianson syndrome. ( 22931061 )
2013
16
Christianson Syndrome: Spectrum of Neuroimaging Findings. ( 24285247 )
2013
17
Christianson syndrome in a patient with an interstitial Xq26.3 deletion. ( 21932316 )
2011
18
Natural history of Christianson syndrome. ( 20949524 )
2010
19
Christianson Syndrome ( 29334451 )
1993

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

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

6 (show top 50) (show all 89)
# 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.860_865delAAAGTG (p.Glu287_Ser288del) deletion Pathogenic rs886037619 GRCh37 Chromosome X, 135084333: 135084338
3 SLC9A6 NM_006359.2(SLC9A6): c.1402C> T (p.Arg468Ter) single nucleotide variant Pathogenic rs122461162 GRCh37 Chromosome X, 135106524: 135106524
4 SLC9A6 NM_006359.2(SLC9A6): c.1402C> T (p.Arg468Ter) single nucleotide variant Pathogenic rs122461162 GRCh38 Chromosome X, 136024365: 136024365
5 SLC9A6 NM_001042537.1(SLC9A6): c.603+3_603+4delAAinsCC indel Pathogenic rs730882187 GRCh37 Chromosome X, 135080347: 135080348
6 SLC9A6 NM_001042537.1(SLC9A6): c.603+3_603+4delAAinsCC indel Pathogenic rs730882187 GRCh38 Chromosome X, 135998188: 135998189
7 SLC9A6 NM_001042537.1(SLC9A6): c.608_609delAT (p.His203Leufs) deletion Pathogenic rs730882188 GRCh37 Chromosome X, 135080645: 135080646
8 SLC9A6 NM_001042537.1(SLC9A6): c.608_609delAT (p.His203Leufs) deletion Pathogenic rs730882188 GRCh38 Chromosome X, 135998486: 135998487
9 SLC9A6 NM_001042537.1(SLC9A6): c.1012_1020delGGTGCTGCT (p.Gly338_Ala340del) deletion Pathogenic rs398122849 GRCh37 Chromosome X, 135092713: 135092721
10 SLC9A6 NM_001042537.1(SLC9A6): c.1012_1020delGGTGCTGCT (p.Gly338_Ala340del) deletion Pathogenic rs398122849 GRCh38 Chromosome X, 136010554: 136010562
11 SLC9A6 NM_001042537.1(SLC9A6): c.1639G> T (p.Glu547Ter) single nucleotide variant Pathogenic rs398123003 GRCh37 Chromosome X, 135112313: 135112313
12 SLC9A6 NM_001042537.1(SLC9A6): c.1639G> T (p.Glu547Ter) single nucleotide variant Pathogenic rs398123003 GRCh38 Chromosome X, 136030154: 136030154
13 SLC9A6 NM_001042537.1(SLC9A6): c.1616+4A> G single nucleotide variant Benign rs180727016 GRCh37 Chromosome X, 135106646: 135106646
14 SLC9A6 NM_001042537.1(SLC9A6): c.1616+4A> G single nucleotide variant Benign rs180727016 GRCh38 Chromosome X, 136024487: 136024487
15 SLC9A6 NM_006359.2(SLC9A6): c.534T> C (p.Ser178=) single nucleotide variant Benign rs144316388 GRCh37 Chromosome X, 135080667: 135080667
16 SLC9A6 NM_006359.2(SLC9A6): c.534T> C (p.Ser178=) single nucleotide variant Benign rs144316388 GRCh38 Chromosome X, 135998508: 135998508
17 SLC9A6 NM_001042537.1(SLC9A6): c.900-6C> T single nucleotide variant Benign rs17001258 GRCh37 Chromosome X, 135092595: 135092595
18 SLC9A6 NM_001042537.1(SLC9A6): c.900-6C> T single nucleotide variant Benign rs17001258 GRCh38 Chromosome X, 136010436: 136010436
19 SLC9A6 NM_001042537.1(SLC9A6): c.1185A> C (p.Ala395=) single nucleotide variant Benign rs142049079 GRCh37 Chromosome X, 135095545: 135095545
20 SLC9A6 NM_001042537.1(SLC9A6): c.1185A> C (p.Ala395=) single nucleotide variant Benign rs142049079 GRCh38 Chromosome X, 136013386: 136013386
21 SLC9A6 NM_006359.2(SLC9A6): c.1520+10A> G single nucleotide variant Benign rs185533973 GRCh37 Chromosome X, 135106652: 135106652
22 SLC9A6 NM_006359.2(SLC9A6): c.1520+10A> G single nucleotide variant Benign rs185533973 GRCh38 Chromosome X, 136024493: 136024493
23 SLC9A6 NM_001042537.1(SLC9A6): c.1648-3C> T single nucleotide variant Benign rs563279759 GRCh37 Chromosome X, 135115570: 135115570
24 SLC9A6 NM_001042537.1(SLC9A6): c.1648-3C> T single nucleotide variant Benign rs563279759 GRCh38 Chromosome X, 136033411: 136033411
25 SLC9A6 NM_001042537.1(SLC9A6): c.1703G> A (p.Arg568Gln) single nucleotide variant Benign/Likely benign rs146263125 GRCh37 Chromosome X, 135115628: 135115628
26 SLC9A6 NM_001042537.1(SLC9A6): c.1703G> A (p.Arg568Gln) single nucleotide variant Benign/Likely benign rs146263125 GRCh38 Chromosome X, 136033469: 136033469
27 SLC9A6 NM_001042537.1(SLC9A6): c.1728-4G> A single nucleotide variant Benign rs188072063 GRCh37 Chromosome X, 135122231: 135122231
28 SLC9A6 NM_001042537.1(SLC9A6): c.1728-4G> A single nucleotide variant Benign rs188072063 GRCh38 Chromosome X, 136040072: 136040072
29 SLC9A6 NM_001042537.1(SLC9A6): c.1755C> T (p.Ser585=) single nucleotide variant Benign/Likely benign rs2307131 GRCh37 Chromosome X, 135122262: 135122262
30 SLC9A6 NM_001042537.1(SLC9A6): c.1755C> T (p.Ser585=) single nucleotide variant Benign/Likely benign rs2307131 GRCh38 Chromosome X, 136040103: 136040103
31 SLC9A6 NM_001042537.1(SLC9A6): c.25G> T (p.Ala9Ser) single nucleotide variant Benign/Likely benign rs201523857 GRCh37 Chromosome X, 135067686: 135067686
32 SLC9A6 NM_001042537.1(SLC9A6): c.25G> T (p.Ala9Ser) single nucleotide variant Benign/Likely benign rs201523857 GRCh38 Chromosome X, 135985527: 135985527
33 SLC9A6 NM_001042537.1(SLC9A6): c.183delG (p.Lys61Asnfs) deletion Pathogenic rs587784398 GRCh37 Chromosome X, 135067844: 135067844
34 SLC9A6 NM_001042537.1(SLC9A6): c.183delG (p.Lys61Asnfs) deletion Pathogenic rs587784398 GRCh38 Chromosome X, 135985685: 135985685
35 SLC9A6 NM_001042537.1(SLC9A6): c.367C> T (p.Pro123Ser) single nucleotide variant Uncertain significance rs587784400 GRCh37 Chromosome X, 135076986: 135076986
36 SLC9A6 NM_001042537.1(SLC9A6): c.367C> T (p.Pro123Ser) single nucleotide variant Uncertain significance rs587784400 GRCh38 Chromosome X, 135994827: 135994827
37 SLC9A6 NM_001042537.1(SLC9A6): c.412A> G (p.Ser138Gly) single nucleotide variant Uncertain significance rs587784401 GRCh37 Chromosome X, 135077031: 135077031
38 SLC9A6 NM_001042537.1(SLC9A6): c.412A> G (p.Ser138Gly) single nucleotide variant Uncertain significance rs587784401 GRCh38 Chromosome X, 135994872: 135994872
39 SLC9A6 NM_001042537.1(SLC9A6): c.685A> G (p.Ile229Val) single nucleotide variant Uncertain significance rs587784402 GRCh37 Chromosome X, 135081019: 135081019
40 SLC9A6 NM_001042537.1(SLC9A6): c.685A> G (p.Ile229Val) single nucleotide variant Uncertain significance rs587784402 GRCh38 Chromosome X, 135998860: 135998860
41 SLC9A6 NM_001042537.1(SLC9A6): c.2078T> G (p.Leu693Ter) single nucleotide variant Pathogenic rs587784399 GRCh37 Chromosome X, 135126855: 135126855
42 SLC9A6 NM_001042537.1(SLC9A6): c.2078T> G (p.Leu693Ter) single nucleotide variant Pathogenic rs587784399 GRCh38 Chromosome X, 136044696: 136044696
43 SLC9A6 NM_001042537.1(SLC9A6): c.604-1G> A single nucleotide variant Pathogenic rs797044508 GRCh37 Chromosome X, 135080640: 135080640
44 SLC9A6 NM_001042537.1(SLC9A6): c.604-1G> A single nucleotide variant Pathogenic rs797044508 GRCh38 Chromosome X, 135998481: 135998481
45 SLC9A6 NM_006359.2(SLC9A6): c.430-9_430-5delTTTTA deletion Conflicting interpretations of pathogenicity rs796053290 GRCh37 Chromosome X, 135080258: 135080262
46 SLC9A6 NM_006359.2(SLC9A6): c.430-9_430-5delTTTTA deletion Conflicting interpretations of pathogenicity rs796053290 GRCh38 Chromosome X, 135998099: 135998103
47 SLC9A6 NM_006359.2(SLC9A6): c.584+5G> A single nucleotide variant Likely pathogenic rs796053284 GRCh37 Chromosome X, 135080722: 135080722
48 SLC9A6 NM_006359.2(SLC9A6): c.584+5G> A single nucleotide variant Likely pathogenic rs796053284 GRCh38 Chromosome X, 135998563: 135998563
49 SLC9A6 NM_001042537: c.916delC undetermined variant Pathogenic
50 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

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

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