MCID: CHR174
MIFTS: 39

Christianson Syndrome malady

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

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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 based summary: Christianson Syndrome, also known as x-linked intellectual disability - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy, is related to status epilepticus and neuronitis, and has symptoms including narrow face, long face and strabismus/squint. 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 eye, bone and cerebellum.

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, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Christianson Syndrome, Aliases & Descriptions:

Name: Christianson Syndrome 42 22 21 48 62
X-Linked Intellectual Disability - Craniofacial Dysmorphism - Epilepsy - Ophthalmoplegia - Cerebellar Atrophy 48
Mental Retardation Microcephaly Epilepsy and Ataxia Syndrome 42
Mental Retardation, X-Linked, Syndromic, Christianson Type 62
Mental Retardation, X-Linked Syndromic, Christianson Type 46
Mental Retardation X-Linked Syndromic Christianson Type 42
 
X-Linked Intellectual Disability, South African Type 48
Intellectual Deficit, X-Linked, South African Type 21
Angelman-Like Syndrome, X-Linked 21
Angelman-Like Syndrome X-Linked 42
X-Linked Angelman-Like Syndrome 48
Mrxs Christianson 42


Classifications:

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


External Ids:

OMIM46 300243
MESH via Orphanet35 C537450
ICD10 via Orphanet26 Q87.8
UMLS via Orphanet63 C1846130

Related Diseases for Christianson Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1status epilepticus10.1
2neuronitis10.1
3retinitis10.1

Symptoms for Christianson Syndrome

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Symptoms by clinical synopsis from OMIM:

300243

Clinical features from OMIM:

300243

Symptoms:

48 (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

HPO human phenotypes related to Christianson Syndrome:

(show all 61)
id Description Frequency HPO Source Accession
1 narrow face hallmark (90%) HP:0000275
2 long face hallmark (90%) HP:0000276
3 macrotia hallmark (90%) HP:0000400
4 strabismus hallmark (90%) HP:0000486
5 thick eyebrow hallmark (90%) HP:0000574
6 seizures hallmark (90%) HP:0001250
7 neurological speech impairment hallmark (90%) HP:0002167
8 incoordination hallmark (90%) HP:0002311
9 decreased body weight hallmark (90%) HP:0004325
10 abnormal nasal morphology hallmark (90%) HP:0005105
11 aplasia/hypoplasia of the cerebellum hallmark (90%) HP:0007360
12 cognitive impairment hallmark (90%) HP:0100543
13 microcephaly typical (50%) HP:0000252
14 ophthalmoparesis typical (50%) HP:0000597
15 nystagmus typical (50%) HP:0000639
16 autism typical (50%) HP:0000717
17 pectus excavatum typical (50%) HP:0000767
18 adducted thumb typical (50%) HP:0001181
19 gait disturbance typical (50%) HP:0001288
20 ventriculomegaly typical (50%) HP:0002119
21 cerebral cortical atrophy typical (50%) HP:0002120
22 aplasia/hypoplasia of the corpus callosum typical (50%) HP:0007370
23 feeding difficulties in infancy typical (50%) HP:0008872
24 mandibular prognathia occasional (7.5%) HP:0000303
25 deeply set eye occasional (7.5%) HP:0000490
26 joint hypermobility occasional (7.5%) HP:0001382
27 arthrogryposis multiplex congenita occasional (7.5%) HP:0002804
28 amyotrophy occasional (7.5%) HP:0003202
29 urinary incontinence HP:0000020
30 open mouth HP:0000194
31 microcephaly HP:0000252
32 narrow face HP:0000275
33 long face HP:0000276
34 mandibular prognathia HP:0000303
35 macrotia HP:0000400
36 strabismus HP:0000486
37 thick eyebrow HP:0000574
38 ophthalmoplegia HP:0000602
39 narrow chest HP:0000774
40 adducted thumb HP:0001181
41 slender finger HP:0001238
42 global developmental delay HP:0001263
43 cerebellar atrophy HP:0001272
44 flexion contracture HP:0001371
45 x-linked dominant inheritance HP:0001423
46 abnormality of the foot HP:0001760
47 dysphagia HP:0002015
48 truncal ataxia HP:0002078
49 mutism HP:0002300
50 drooling HP:0002307
51 sleep disturbance HP:0002360
52 hyperkinesis HP:0002487
53 neuronal loss in central nervous system HP:0002529
54 bowel incontinence HP:0002607
55 long nose HP:0003189
56 amyotrophy HP:0003202
57 decreased body weight HP:0004325
58 loss of ability to walk in first decade HP:0006794
59 intellectual disability, progressive HP:0006887
60 photosensitive tonic-clonic seizures HP:0007207
61 intellectual disability, severe HP:0010864

Drugs & Therapeutics for Christianson Syndrome

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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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Genetic tests related to Christianson Syndrome:

id Genetic test Affiliating Genes
1 Christianson Syndrome22

Anatomical Context for Christianson Syndrome

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MalaCards organs/tissues related to Christianson Syndrome:

32
Eye, Bone, Cerebellum, Pons

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:

idTitleAuthorsYear
1
Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome. (25044251)
2014
2
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
3
Inaugural Christianson Syndrome Association conference: families meeting for the first time. (25273398)
2014
4
Christianson syndrome protein NHE6 modulates TrkB endosomal signaling required for neuronal circuit development. (24035762)
2013
5
Novel SLC9A6 mutations in two families with Christianson syndrome. (22931061)
2013
6
Christianson Syndrome: Spectrum of Neuroimaging Findings. (24285247)
2013
7
Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum. (22541666)
2013
8
Christianson syndrome in a patient with an interstitial Xq26.3 deletion. (21932316)
2011
9
Natural history of Christianson syndrome. (20949524)
2010

Variations for Christianson Syndrome

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Clinvar genetic disease variations for Christianson Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1SLC9A6SLC9A6, 6-BP DEL, NT764deletionPathogenic
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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet