MCID: CHR174
MIFTS: 29

Christianson Syndrome malady

Categories: Rare diseases, Neuronal diseases, Fetal diseases, Mental diseases

Aliases & Classifications for Christianson Syndrome

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Sources:
45NIH Rare Diseases, 23Genetics Home Reference, 51Orphanet, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Christianson Syndrome:

Name: Christianson Syndrome 45 23 51 24
X-Linked Intellectual Disability-Craniofacial Dysmorphism-Epilepsy-Ophthalmoplegia-Cerebellar Atrophy Syndrome 45 51
X-Linked Intellectual Disability, South African Type 45 51
X-Linked Angelman-Like Syndrome 45 51
X-Linked Intellectual Disability - Craniofacial Dysmorphism - Epilepsy - Ophthalmoplegia - Cerebellar Atrophy 45
Intellectual Disability Microcephaly Epilepsy and Ataxia Syndrome 45
 
Intellectual Disability X-Linked Syndromic Christianson Type 45
Mental Retardation, X-Linked, Syndromic, Christianson Type 65
Intellectual Deficit, X-Linked, South African Type 23
Angelman-Like Syndrome, X-Linked 23
Angelman-Like Syndrome X-Linked 45
Mrxs Christianson 45

Characteristics:

Orphanet epidemiological data:

51
christianson syndrome:
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: young Adult

Classifications:



External Ids:

Orphanet51 85278
ICD10 via Orphanet28 Q87.8
MESH via Orphanet37 C537450
UMLS via Orphanet66 C1846130
UMLS65 C2678194

Summaries for Christianson Syndrome

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NIH Rare Diseases:45 Christianson syndrome is an x-linked syndrome associated with intellectual disability, 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 intellectual disability to absence of symptoms. last updated: 1/26/2015

MalaCards based summary: Christianson Syndrome, also known as x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome, is related to slc9a6-related syndromic mental retardation and mental retardation, x-linked syndromic, christianson type, and has symptoms including narrow face, long face and strabismus/squint. An important gene associated with Christianson Syndrome is SLC9A6 (Solute Carrier Family 9 Member A6). Affiliated tissues include bone, cerebellum and eye.

Genetics Home Reference:23 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.

Related Diseases for Christianson Syndrome

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Diseases related to Christianson Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1slc9a6-related syndromic mental retardation10.9
2mental retardation, x-linked syndromic, christianson type10.0
3status epilepticus9.9
4retinitis9.9
5neuronitis9.9

Graphical network of diseases related to Christianson Syndrome:



Diseases related to christianson syndrome

Symptoms for Christianson Syndrome

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Symptoms:

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

UMLS symptoms related to Christianson Syndrome:


ataxia, truncal, sleep disturbances, ophthalmoplegia, drooling, ataxia

Drugs & Therapeutics for Christianson Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Christianson Syndrome

Genetic Tests for Christianson Syndrome

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Anatomical Context for Christianson Syndrome

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MalaCards organs/tissues related to Christianson Syndrome:

33
Bone, Cerebellum, Eye, Pons, Prostate, Liver, T cells

Animal Models for Christianson Syndrome or affiliated genes

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Publications for Christianson Syndrome

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Articles related to Christianson Syndrome:

(show all 11)
idTitleAuthorsYear
1
Novel endosomal mechanisms in human axonal growth mediated by Christianson syndrome protein NHE6. (26531385)
2015
2
X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities. (26515654)
2015
3
Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome. (25044251)
2014
4
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
5
Inaugural Christianson Syndrome Association conference: families meeting for the first time. (25273398)
2014
6
Christianson syndrome protein NHE6 modulates TrkB endosomal signaling required for neuronal circuit development. (24035762)
2013
7
Novel SLC9A6 mutations in two families with Christianson syndrome. (22931061)
2013
8
Christianson Syndrome: Spectrum of Neuroimaging Findings. (24285247)
2013
9
Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum. (22541666)
2013
10
Christianson syndrome in a patient with an interstitial Xq26.3 deletion. (21932316)
2011
11
Natural history of Christianson syndrome. (20949524)
2010

Variations for Christianson Syndrome

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Expression for genes affiliated with Christianson Syndrome

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Search GEO for disease gene expression data for Christianson Syndrome.

Pathways for genes affiliated with Christianson Syndrome

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GO Terms for genes affiliated with Christianson Syndrome

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Sources for Christianson Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet