MCID: MNT306
MIFTS: 12

Mental Retardation, X-Linked, Syndromic, Houge Type

Categories: Genetic diseases, Neuronal diseases, Mental diseases

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

MalaCards integrated aliases for Mental Retardation, X-Linked, Syndromic, Houge Type:

Name: Mental Retardation, X-Linked, Syndromic, Houge Type 57 75 6
Mrxshg 57 75

Characteristics:

OMIM:

57
Inheritance:
x-linked

Miscellaneous:
seizure onset in first years of life
variable severity
seizures may remit by adolescence
carrier females may be unaffected or mildly affected


Classifications:



External Ids:

OMIM 57 301008
MeSH 44 D008607

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

UniProtKB/Swiss-Prot : 75 Mental retardation, X-linked, syndromic, Houge type: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSHG is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures. Carrier females may be mildly affected.

MalaCards based summary : Mental Retardation, X-Linked, Syndromic, Houge Type, is also known as mrxshg. An important gene associated with Mental Retardation, X-Linked, Syndromic, Houge Type is CNKSR2 (Connector Enhancer Of Kinase Suppressor Of Ras 2).

OMIM : 57 The Houge type of X-linked syndromic mental retardation is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures. EEG tends to show continuous spike-wave activity or centrotemporal spikes. Some patients may have remission of seizures by adolescence. Carrier females may be mildly affected (summary by Damiano et al., 2017). (301008)

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

Symptoms & Phenotypes for Mental Retardation, X-Linked, Syndromic, Houge Type

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
delayed psychomotor development
limited or absent speech
cognitive deterioration (in some patients)
seizures
continuous centrotemporal activity seen on eeg
more
Neurologic Behavioral Psychiatric Manifestations:
attention deficit
hyperactivity
impulsivity


Clinical features from OMIM:

301008

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

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

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

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

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

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

ClinVar genetic disease variations for Mental Retardation, X-Linked, Syndromic, Houge Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CNKSR2 NM_014927.4(CNKSR2): c.453dupA (p.Asp152Argfs) insertion Pathogenic rs606231282 GRCh37 Chromosome X, 21458833: 21458833
2 CNKSR2 NM_014927.4(CNKSR2): c.453dupA (p.Asp152Argfs) insertion Pathogenic rs606231282 GRCh38 Chromosome X, 21440715: 21440715
3 CNKSR2 NM_014927.4(CNKSR2): c.2134C> T (p.Arg712Ter) single nucleotide variant Pathogenic rs904072058 GRCh37 Chromosome X, 21624986: 21624986
4 CNKSR2 NM_014927.4(CNKSR2): c.2134C> T (p.Arg712Ter) single nucleotide variant Pathogenic rs904072058 GRCh38 Chromosome X, 21606868: 21606868

Expression for Mental Retardation, X-Linked, Syndromic, Houge Type

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

Pathways for Mental Retardation, X-Linked, Syndromic, Houge Type

GO Terms for Mental Retardation, X-Linked, Syndromic, Houge Type

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

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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44 MeSH
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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