MCID: CHR174
MIFTS: 33

Christianson Syndrome malady

Neuronal diseases, Fetal diseases categories

Summaries for Christianson Syndrome

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 retinitis, 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:46 300243

Aliases & Classifications for Christianson Syndrome

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Sources:
42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 60UMLS, 35MESH via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
christianson syndrome:
Inheritance: X-linked dominant; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Young adult


Aliases & Descriptions:

christianson syndrome 42 22 21 48
x-linked intellectual deficit - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy 48
mental retardation microcephaly epilepsy and ataxia syndrome 42
mental retardation, x-linked, syndromic, christianson type 60
mental retardation, x-linked syndromic, christianson type 46
mental retardation x-linked syndromic christianson type 42
intellectual deficit, x-linked, south african type 21
x-linked intellectual deficit, south african type 48
angelman-like syndrome, x-linked 21
angelman-like syndrome x-linked 42
x-linked angelman-like syndrome 48
mrxs christianson 42


External Ids:

OMIM46 300243
MESH via Orphanet35 C537450
UMLS via Orphanet61 C1846130

Related Diseases for Christianson Syndrome

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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
2retinitis10.1

Clinical Features for Christianson Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

300243

Clinical synopsis from OMIM:

300243

Symptoms:

48 (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:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Christianson Syndrome

Search CenterWatch for Christianson Syndrome

Genetic Tests for Christianson Syndrome

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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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32MalaCards
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MalaCards organs/tissues related to Christianson Syndrome:

32
Pons, Cerebellum, Bone, Eye

Animal Models for Christianson Syndrome or affiliated genes

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Publications for Christianson Syndrome

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Genetic Variations for Christianson Syndrome

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Expression for genes affiliated with Christianson Syndrome

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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

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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet