MCID: MNT187
MIFTS: 22

Mental Retardation, X-Linked 49

Categories: Genetic diseases, Neuronal diseases, Mental diseases, Rare diseases

Aliases & Classifications for Mental Retardation, X-Linked 49

MalaCards integrated aliases for Mental Retardation, X-Linked 49:

Name: Mental Retardation, X-Linked 49 57 75 73
Mental Retardation, X-Linked 49/15 57 75
Mental Retardation, X-Linked 15 57 75
Mental Retardation 49, X-Linked 29 6
Mrx49 57 75
Mental Retardation, X-Linked 15; Mrx15 57
Mental Retardation, X-Linked-49 13
Mrx15 57

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
some carrier females may be mildly affected


HPO:

32
mental retardation, x-linked 49:
Inheritance x-linked inheritance x-linked recessive inheritance


Classifications:



Summaries for Mental Retardation, X-Linked 49

UniProtKB/Swiss-Prot : 75 Mental retardation, X-linked 49: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations.

MalaCards based summary : Mental Retardation, X-Linked 49, also known as mental retardation, x-linked 49/15, is related to chromosome xp deletion and hypotonia. An important gene associated with Mental Retardation, X-Linked 49 is CLCN4 (Chloride Voltage-Gated Channel 4). Related phenotypes are coarse facial features and strabismus

Description from OMIM: 300114

Related Diseases for Mental Retardation, X-Linked 49

Symptoms & Phenotypes for Mental Retardation, X-Linked 49

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
coarse facial features (1 family)

Skeletal Spine:
scoliosis (in some patients)

Neurologic Central Nervous System:
delayed psychomotor development
intellectual disability
mental retardation
poor or absent speech
seizures (in some patients) cortical atrophy (in some patients)

Head And Neck Eyes:
strabismus (in some patients)

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
behavioral problems (in some patients)


Clinical features from OMIM:

300114

Human phenotypes related to Mental Retardation, X-Linked 49:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 coarse facial features 32 HP:0000280
2 strabismus 32 occasional (7.5%) HP:0000486
3 behavioral abnormality 32 occasional (7.5%) HP:0000708
4 intellectual disability, mild 32 HP:0001256
5 global developmental delay 32 HP:0001263
6 generalized hypotonia 32 HP:0001290
7 scoliosis 32 occasional (7.5%) HP:0002650

Drugs & Therapeutics for Mental Retardation, X-Linked 49

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked 49

Genetic Tests for Mental Retardation, X-Linked 49

Genetic tests related to Mental Retardation, X-Linked 49:

# Genetic test Affiliating Genes
1 Mental Retardation 49, X-Linked 29 CLCN4

Anatomical Context for Mental Retardation, X-Linked 49

Publications for Mental Retardation, X-Linked 49

Variations for Mental Retardation, X-Linked 49

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked 49:

75
# Symbol AA change Variation ID SNP ID
1 CLCN4 p.Gly78Ser VAR_077819
2 CLCN4 p.Leu221Val VAR_077820
3 CLCN4 p.Val536Met VAR_077821
4 CLCN4 p.Gly544Arg VAR_077822 rs587777161
5 CLCN4 p.Gly731Arg VAR_077823

ClinVar genetic disease variations for Mental Retardation, X-Linked 49:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CLCN4 NM_001830.3(CLCN4): c.1630G> A (p.Gly544Arg) single nucleotide variant Pathogenic rs587777161 GRCh37 Chromosome X, 10181774: 10181774
2 CLCN4 NM_001830.3(CLCN4): c.1630G> A (p.Gly544Arg) single nucleotide variant Pathogenic rs587777161 GRCh38 Chromosome X, 10213734: 10213734
3 CLCN4 CLCN4, 13-BP DEL deletion Pathogenic
4 CLCN4 CLCN4, GLY731ARG single nucleotide variant Pathogenic
5 CLCN4 CLCN4, GLY78SER single nucleotide variant Pathogenic
6 CLCN4 CLCN4, LEU221VAL single nucleotide variant Pathogenic
7 CLCN4 CLCN4, VAL536MET single nucleotide variant Pathogenic
8 CLCN4 NM_001830.3(CLCN4): c.1576G> A (p.Gly526Ser) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 10180693: 10180693
9 CLCN4 NM_001830.3(CLCN4): c.1576G> A (p.Gly526Ser) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 10212653: 10212653

Expression for Mental Retardation, X-Linked 49

Search GEO for disease gene expression data for Mental Retardation, X-Linked 49.

Pathways for Mental Retardation, X-Linked 49

GO Terms for Mental Retardation, X-Linked 49

Sources for Mental Retardation, X-Linked 49

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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