MCID: CHR174
MIFTS: 30

Christianson Syndrome malady

Neuronal, Fetal categories

Summaries for Christianson Syndrome

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 deficit - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy, is related to slc9a6-related syndromic mental retardation and n syndrome, and has symptoms including pectus excavatum, cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy and corpus callosum/septum pellucidum total/partial agenesis. An important gene associated with Christianson Syndrome is SLC9A6 (solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6).

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

Sources:
43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 47OMIM, 49Orphanet, 61UMLS, 36MESH via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal


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 deficit - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy 49
mental retardation microcephaly epilepsy and ataxia syndrome 43
mental retardation, x-linked, syndromic, christianson type 61
mental retardation, x-linked syndromic, christianson type 47
mental retardation x-linked syndromic christianson type 43
intellectual deficit, x-linked, south african type 21
x-linked intellectual deficit, south african type 49
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 Orphanet62 C1846130

Related Diseases for Christianson Syndrome

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
2n syndrome10.3

Clinical Features for Christianson Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

300243

Clinical synopsis from OMIM:

300243

Symptoms:

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

Drugs & Therapeutics for Christianson Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Christianson Syndrome

Drug clinical trials:

Search ClinicalTrials for Christianson Syndrome

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Search CenterWatch for Christianson Syndrome

Genetic Tests for Christianson Syndrome

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

Animal Models for Christianson Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Christianson Syndrome

Sources:
51PubMed
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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

Genetic Variations for Christianson Syndrome

Expression for genes affiliated with Christianson Syndrome

Sources:
1BioGPS, 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

Compounds for genes affiliated with Christianson Syndrome

GO Terms for genes affiliated with Christianson Syndrome

Products for genes affiliated with Christianson Syndrome

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Sources for Christianson Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet