MCID: CHR174
MIFTS: 38

Christianson Syndrome malady

Rare diseases, Neuronal diseases, Fetal diseases, Mental diseases categories
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Summaries for Christianson Syndrome

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Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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.

Genetics Home Reference:21 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.

Description from OMIM:47 300243

Aliases & Classifications for Christianson Syndrome

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Sources:
43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 49Orphanet, 47OMIM, 62UMLS, 36MESH via Orphanet, 63UMLS via Orphanet, 26ICD10 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):

49
christianson syndrome:
Inheritance: X-linked dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Young adult


Aliases & Descriptions:

christianson syndrome 43 22 21 49
x-linked intellectual disability - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy 49
mental retardation microcephaly epilepsy and ataxia syndrome 43
mental retardation, x-linked, syndromic, christianson type 62
mental retardation, x-linked syndromic, christianson type 47
mental retardation x-linked syndromic christianson type 43
x-linked intellectual disability, south african type 49
intellectual deficit, x-linked, south african type 21
angelman-like syndrome, x-linked 21
angelman-like syndrome x-linked 43
x-linked angelman-like syndrome 49
mrxs christianson 43


External Ids:

OMIM47 300243
MESH via Orphanet36 C537450
UMLS via Orphanet63 C1846130
ICD10 via Orphanet26 Q87.8

Related Diseases for Christianson Syndrome

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Sources:
17GeneCards, 18GeneDecks
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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:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

300243

Clinical features from OMIM:

300243

Symptoms:

49 (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:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Christianson Syndrome

Search NIH Clinical Center for Christianson Syndrome

Genetic Tests for Christianson Syndrome

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Sources:
22GTR
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Genetic tests related to Christianson Syndrome:

id Genetic test Affiliating Genes
1 Christianson Syndrome22

Anatomical Context for Christianson Syndrome

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33MalaCards
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MalaCards organs/tissues related to Christianson Syndrome:

33
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:
52PubMed
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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, 15Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet