MRXSHG
MCID: MNT306
MIFTS: 19

Mental Retardation, X-Linked, Syndromic, Houge Type (MRXSHG)

Categories: Genetic diseases, Mental diseases, Neuronal 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 72 6
Mrxshg 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
variable severity
seizure onset in first years of life
seizures may remit by adolescence
carrier females may be unaffected or mildly affected

Inheritance:
x-linked


HPO:

31
mental retardation, x-linked, syndromic, houge type:
Inheritance x-linked inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM® 57 301008
OMIM Phenotypic Series 57 PS309510
MeSH 44 D008607

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

UniProtKB/Swiss-Prot : 72 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). Related phenotypes are global developmental delay and absent speech

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) (Updated 05-Apr-2021)

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

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

Human phenotypes related to Mental Retardation, X-Linked, Syndromic, Houge Type:

31
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 absent speech 31 HP:0001344
3 attention deficit hyperactivity disorder 31 HP:0007018
4 impulsivity 31 HP:0100710
5 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
delayed psychomotor development
limited or absent speech
cognitive deterioration (in some patients)
continuous centrotemporal activity seen on eeg
more
Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
impulsivity
attention deficit

Clinical features from OMIM®:

301008 (Updated 05-Apr-2021)

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

Articles related to Mental Retardation, X-Linked, Syndromic, Houge Type:

# Title Authors PMID Year
1
Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum. 6 57
28098945 2017
2
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 6 57
25644381 2016
3
Absent CNKSR2 causes seizures and intellectual, attention, and language deficits. 57 6
25223753 2014
4
CNKSR2 deletions: a novel cause of X-linked intellectual disability and seizures. 57
25754917 2015
5
Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability. 57
22511892 2012

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

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

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CNKSR2 NM_014927.5(CNKSR2):c.2134C>T (p.Arg712Ter) SNV Pathogenic 446716 rs904072058 GRCh37: X:21624986-21624986
GRCh38: X:21606868-21606868
2 CNKSR2 NM_014927.5(CNKSR2):c.1734G>A (p.Trp578Ter) SNV Pathogenic 634608 rs1569261319 GRCh37: X:21609216-21609216
GRCh38: X:21591098-21591098
3 CNKSR2 NM_014927.5(CNKSR2):c.453dup (p.Asp152fs) Duplication Pathogenic 157605 rs606231282 GRCh37: X:21458832-21458833
GRCh38: X:21440714-21440715
4 CNKSR2 NM_014927.5(CNKSR2):c.1615C>T (p.Gln539Ter) SNV Likely pathogenic 996895 GRCh37: X:21608696-21608696
GRCh38: X:21590578-21590578
5 CNKSR2 NM_014927.5(CNKSR2):c.2749G>C (p.Glu917Gln) SNV Uncertain significance 1030445 GRCh37: X:21667005-21667005
GRCh38: X:21648887-21648887
6 CNKSR2 NM_014927.5(CNKSR2):c.1895G>A (p.Arg632His) SNV Uncertain significance 1030444 GRCh37: X:21613156-21613156
GRCh38: X:21595038-21595038
7 CNKSR2 NM_014927.5(CNKSR2):c.1447A>G (p.Met483Val) SNV Uncertain significance 1030443 GRCh37: X:21581409-21581409
GRCh38: X:21563291-21563291
8 CNKSR2 NM_014927.5(CNKSR2):c.2637GGA[5] (p.Glu885_Glu886del) Microsatellite Uncertain significance 996985 GRCh37: X:21627678-21627683
GRCh38: X:21609560-21609565
9 CNKSR2 NM_014927.5(CNKSR2):c.1333G>C (p.Glu445Gln) SNV Uncertain significance 930649 GRCh37: X:21579618-21579618
GRCh38: X:21561500-21561500
10 CNKSR2 NM_014927.5(CNKSR2):c.73G>A (p.Asp25Asn) SNV Uncertain significance 931028 GRCh37: X:21444623-21444623
GRCh38: X:21426505-21426505
11 CNKSR2 NM_014927.5(CNKSR2):c.1988_1989del (p.Arg663fs) Deletion Uncertain significance 976388 GRCh37: X:21619410-21619411
GRCh38: X:21601292-21601293
12 CNKSR2 NM_014927.5(CNKSR2):c.1711G>A (p.Gly571Ser) SNV Uncertain significance 976417 GRCh37: X:21609193-21609193
GRCh38: X:21591075-21591075

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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