MCID: CHR174
MIFTS: 38

Christianson Syndrome malady

Rare diseases, Neuronal diseases, Fetal diseases, Mental diseases categories

Summaries for Christianson Syndrome

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Sources:
44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Christianson syndrome is an x-linked mental retardation syndrome associated with 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 mental retardation to absence of symptoms. last updated: 1/6/2010

MalaCards: Christianson Syndrome, also known as x-linked intellectual disability - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy, is related to slc9a6-related syndromic mental retardation and neuronitis, and has symptoms including dystonia/torticollis/writer's cramp/blepharospasms, movement disorder and abnormal gait. An important gene associated with Christianson Syndrome is SLC9A6 (solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6). Affiliated tissues include pons, cerebellum and bone.

Description from OMIM:48 300243

Aliases & Classifications for Christianson Syndrome

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Sources:
44NIH Rare Diseases, 23GTR, 22Genetics Home Reference, 50Orphanet, 48OMIM, 63UMLS, 37MESH via Orphanet, 64UMLS via Orphanet, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Mental diseases


Characteristics (Orphanet epidemiological data):

50
christianson syndrome:
Inheritance: X-linked dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Young adult


Aliases & Descriptions:

christianson syndrome 44 23 22 50
x-linked intellectual disability - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy 50
mental retardation microcephaly epilepsy and ataxia syndrome 44
mental retardation, x-linked, syndromic, christianson type 63
mental retardation, x-linked syndromic, christianson type 48
mental retardation x-linked syndromic christianson type 44
x-linked intellectual disability, south african type 50
intellectual deficit, x-linked, south african type 22
angelman-like syndrome, x-linked 22
angelman-like syndrome x-linked 44
x-linked angelman-like syndrome 50
mrxs christianson 44


External Ids:

OMIM48 300243
MESH via Orphanet37 C537450
UMLS via Orphanet64 C1846130
ICD10 via Orphanet27 Q87.8

Related Diseases for Christianson Syndrome

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Christianson Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1slc9a6-related syndromic mental retardation10.5
2neuronitis10.1
3retinitis10.1

Symptoms for Christianson Syndrome

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Sources:
48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

300243

Clinical features from OMIM:

300243

Symptoms:

50 (show all 37)
  • dystonia/torticollis/writer's cramp/blepharospasms
  • movement disorder
  • abnormal gait
  • corpus callosum/septum pellucidum total/partial agenesis
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • dilated cerebral ventricles without hydrocephaly
  • psychic/behavioural troubles
  • autism/autistic disoders
  • deepset eyes/enophthalmos
  • prognathism/prognathia
  • anomalies of nose and olfaction
  • arthrogryposis
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • hyperextensible joints/articular hyperlaxity
  • early death/lethality
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • clasp thumb/thumb adduction/distal thumb phalangeal bone deviated/large
  • ataxia/incoordination/trouble of the equilibrium
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • midbrain/brainstem/pons/medulla anomalies
  • long/large ear
  • long/large/bulbous nose
  • thick/bushy eyebrows
  • strabismus/squint
  • long face
  • seizures/epilepsy/absences/spasms/status epilepticus
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • pectus excavatum
  • anomalies of chest/thorax/trunk
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • nystagmus
  • microcephaly
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • x-linked dominant inheritance
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • narrow face

Drugs & Therapeutics for Christianson Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Christianson Syndrome

Drug clinical trials:

Search ClinicalTrials for Christianson Syndrome

Search NIH Clinical Center for Christianson Syndrome

Search CenterWatch for Christianson Syndrome

Genetic Tests for Christianson Syndrome

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Sources:
23GTR
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Genetic tests related to Christianson Syndrome:

id Genetic test Affiliating Genes
1 Christianson Syndrome23

Anatomical Context for Christianson Syndrome

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Sources:
34MalaCards
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MalaCards organs/tissues related to Christianson Syndrome:

34
Pons, Cerebellum, Bone, Eye

Animal Models for Christianson Syndrome or affiliated genes

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Publications for Christianson Syndrome

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Sources:
53PubMed
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Articles related to Christianson Syndrome:

idTitleAuthorsYear
1
Christianson syndrome protein NHE6 modulates TrkB endosomal signaling required for neuronal circuit development. (24035762)
2013
2
Novel SLC9A6 mutations in two families with Christianson syndrome. (22931061)
2013
3
Christianson Syndrome: Spectrum of Neuroimaging Findings. (24285247)
2013
4
Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum. (22541666)
2013
5
Christianson syndrome in a patient with an interstitial Xq26.3 deletion. (21932316)
2011
6
Natural history of Christianson syndrome. (20949524)
2010

Variations for Christianson Syndrome

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Sources:
1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Christianson Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1SLC9A6SLC9A6, 6-BP DEL, NT764deletionPathogenic/card/christianson_syndrome
2SLC9A6NM_001042537.1(SLC9A6): c.1498C> T (p.Arg500Ter)single nucleotide variantPathogenicrs122461162GRCh37Chr X, 135106524: 135106524
3SLC9A6SLC9A6, IVS3, AA-CCundetermined variantPathogenic
4SLC9A6SLC9A6, 2-BP DELdeletionPathogenic
5SLC9A6NM_001042537.1(SLC9A6): c.1012_1020delGGTGCTGCT (p.Gly338_Ala340del)deletionPathogenicrs398122849GRCh37Chr X, 135092713: 135092721
6SLC9A6NM_001042537.1(SLC9A6): c.1639G> T (p.Glu547Ter)single nucleotide variantPathogenicrs398123003GRCh37Chr X, 135112313: 135112313

Expression for genes affiliated with Christianson Syndrome

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Christianson Syndrome

Search GEO for disease gene expression data for Christianson Syndrome.

Pathways for genes affiliated with Christianson Syndrome

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Compounds for genes affiliated with Christianson Syndrome

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GO Terms for genes affiliated with Christianson Syndrome

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Products for genes affiliated with Christianson Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Christianson Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet