MCID: MNT121
MIFTS: 14

Mental Retardation, X-Linked Syndromic, Christianson Type malady

Genetic diseases (common), Neuronal diseases, Mental diseases categories

Summaries for Mental Retardation, X-Linked Syndromic, Christianson Type

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OMIM:45 Christianson syndrome is an X-linked mental retardation syndrome characterized by microcephaly, impaired ocular... (300243) more...

MalaCards based summary: Mental Retardation, X-Linked Syndromic, Christianson Type, also known as mental retardation, x-linked, syndromic, christianson type, is related to christianson syndrome, and has symptoms including urinary incontinence, open mouth and microcephaly. An important gene associated with Mental Retardation, X-Linked Syndromic, Christianson Type is SLC9A6 (solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6).

Aliases & Classifications for Mental Retardation, X-Linked Syndromic, Christianson Type

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Mental Retardation, X-Linked Syndromic, Christianson Type, Aliases & Descriptions:

Name: Mental Retardation, X-Linked Syndromic, Christianson Type 45 10
 
Mental Retardation, X-Linked, Syndromic, Christianson Type 45


Classifications:

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


External Ids:

OMIM45 300243

Related Diseases for Mental Retardation, X-Linked Syndromic, Christianson Type

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Diseases related to Mental Retardation, X-Linked Syndromic, Christianson Type via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1christianson syndrome10.7

Symptoms for Mental Retardation, X-Linked Syndromic, Christianson Type

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Symptoms by clinical synopsis from OMIM:

300243

Clinical features from OMIM:

300243

HPO human phenotypes related to Mental Retardation, X-Linked Syndromic, Christianson Type:

(show all 33)
id Description Frequency HPO Source Accession
1 urinary incontinence HP:0000020
2 open mouth HP:0000194
3 microcephaly HP:0000252
4 narrow face HP:0000275
5 long face HP:0000276
6 mandibular prognathia HP:0000303
7 macrotia HP:0000400
8 strabismus HP:0000486
9 thick eyebrow HP:0000574
10 ophthalmoplegia HP:0000602
11 narrow chest HP:0000774
12 adducted thumb HP:0001181
13 slender finger HP:0001238
14 global developmental delay HP:0001263
15 cerebellar atrophy HP:0001272
16 flexion contracture HP:0001371
17 x-linked dominant inheritance HP:0001423
18 abnormality of the foot HP:0001760
19 dysphagia HP:0002015
20 truncal ataxia HP:0002078
21 mutism HP:0002300
22 drooling HP:0002307
23 sleep disturbance HP:0002360
24 hyperkinesis HP:0002487
25 neuronal loss in central nervous system HP:0002529
26 bowel incontinence HP:0002607
27 long nose HP:0003189
28 amyotrophy HP:0003202
29 decreased body weight HP:0004325
30 loss of ability to walk in first decade HP:0006794
31 intellectual disability, progressive HP:0006887
32 photosensitive tonic-clonic seizures HP:0007207
33 intellectual disability, severe HP:0010864

Drugs & Therapeutics for Mental Retardation, X-Linked Syndromic, Christianson Type

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Drug clinical trials:

Search ClinicalTrials for Mental Retardation, X-Linked Syndromic, Christianson Type

Search NIH Clinical Center for Mental Retardation, X-Linked Syndromic, Christianson Type

Genetic Tests for Mental Retardation, X-Linked Syndromic, Christianson Type

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Anatomical Context for Mental Retardation, X-Linked Syndromic, Christianson Type

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Animal Models for Mental Retardation, X-Linked Syndromic, Christianson Type or affiliated genes

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Publications for Mental Retardation, X-Linked Syndromic, Christianson Type

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Variations for Mental Retardation, X-Linked Syndromic, Christianson Type

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Clinvar genetic disease variations for Mental Retardation, X-Linked Syndromic, Christianson Type:

6
id Gene Variation 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 Mental Retardation, X-Linked Syndromic, Christianson Type

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Search GEO for disease gene expression data for Mental Retardation, X-Linked Syndromic, Christianson Type.

Pathways for genes affiliated with Mental Retardation, X-Linked Syndromic, Christianson Type

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Compounds for genes affiliated with Mental Retardation, X-Linked Syndromic, Christianson Type

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GO Terms for genes affiliated with Mental Retardation, X-Linked Syndromic, Christianson Type

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Products for genes affiliated with Mental Retardation, X-Linked Syndromic, Christianson Type

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Mental Retardation, X-Linked Syndromic, Christianson Type

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet