MRXS32
MCID: MNT207
MIFTS: 26

Mental Retardation, X-Linked, Syndromic 32 (MRXS32)

Categories: Bone diseases, Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mental Retardation, X-Linked, Syndromic 32

MalaCards integrated aliases for Mental Retardation, X-Linked, Syndromic 32:

Name: Mental Retardation, X-Linked, Syndromic 32 57 12 29 13 6 70
Mrxs32 57 12 72
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome 12 58
Mental Retardation, X-Linked, Syndromic, Type 32 39
Mental Retardation, X-Linked, Syndromic, 32 72

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked recessive

Miscellaneous:
one family with 2 affected brothers has been reported (last curated november 2012)
female carriers may show mild learning disabilities


HPO:

31
mental retardation, x-linked, syndromic 32:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Mental Retardation, X-Linked, Syndromic 32

UniProtKB/Swiss-Prot : 72 Mental retardation, X-linked, syndromic, 32: A mental retardation syndrome characterized by profound intellectual deficit, delayed psychomotor development beginning in infancy and little or no speech development. Additional features include seizures, large joint contractures, and abnormal positioning of the thumbs. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

MalaCards based summary : Mental Retardation, X-Linked, Syndromic 32, is also known as mrxs32, and has symptoms including seizures An important gene associated with Mental Retardation, X-Linked, Syndromic 32 is CLIC2 (Chloride Intracellular Channel 2). Affiliated tissues include heart, eye and tongue, and related phenotypes are global developmental delay and macrotia

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has material basis in mutation in the CLIC2 gene on chromosome Xq28.

More information from OMIM: 300886 PS309510

Related Diseases for Mental Retardation, X-Linked, Syndromic 32

Symptoms & Phenotypes for Mental Retardation, X-Linked, Syndromic 32

Human phenotypes related to Mental Retardation, X-Linked, Syndromic 32:

58 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
2 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
3 cardiomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0001640
4 absent speech 58 31 frequent (33%) Frequent (79-30%) HP:0001344
5 congestive heart failure 58 31 frequent (33%) Frequent (79-30%) HP:0001635
6 overfolded helix 58 31 frequent (33%) Frequent (79-30%) HP:0000396
7 abnormal thumb morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001172
8 intellectual disability, profound 58 31 frequent (33%) Frequent (79-30%) HP:0002187
9 contractures of the large joints 58 31 frequent (33%) Frequent (79-30%) HP:0005781
10 seizure 31 frequent (33%) HP:0001250
11 coarse facial features 58 31 occasional (7.5%) Occasional (29-5%) HP:0000280
12 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
13 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
14 macroorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000053
15 smooth philtrum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000319
16 spastic tetraplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002510
17 everted lower lip vermilion 58 31 occasional (7.5%) Occasional (29-5%) HP:0000232
18 mitral valve prolapse 58 31 occasional (7.5%) Occasional (29-5%) HP:0001634
19 kyphoscoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002751
20 mitral regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001653
21 protruding tongue 58 31 occasional (7.5%) Occasional (29-5%) HP:0010808
22 prominent nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0000426
23 bulbous nose 58 31 occasional (7.5%) Occasional (29-5%) HP:0000414
24 steppage gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0003376
25 aortic valve stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001650
26 tricuspid regurgitation 58 31 occasional (7.5%) Occasional (29-5%) HP:0005180
27 inability to walk 58 31 occasional (7.5%) Occasional (29-5%) HP:0002540
28 poor speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0002465
29 atrial flutter 58 31 occasional (7.5%) Occasional (29-5%) HP:0004749
30 spasticity 31 occasional (7.5%) HP:0001257
31 hydrocephalus 31 occasional (7.5%) HP:0000238
32 seizures 58 Frequent (79-30%)
33 abnormal atrioventricular valve morphology 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
global developmental delay
mental retardation, profound
hydrocephalus (rare)
lack of speech
more
Cardiovascular Heart:
cardiomegaly
congestive heart failure
valvular insufficiency
atrial flutter (rare)

Head And Neck Ears:
large ears

Skeletal Hands:
abnormal positioning of the thumbs

Genitourinary External Genitalia Male:
macroorchidism

Skeletal Limbs:
contractures of the large joints

Skeletal Spine:
kyphoscoliosis (rare)

Clinical features from OMIM®:

300886 (Updated 20-May-2021)

UMLS symptoms related to Mental Retardation, X-Linked, Syndromic 32:


seizures

Drugs & Therapeutics for Mental Retardation, X-Linked, Syndromic 32

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked, Syndromic 32

Genetic Tests for Mental Retardation, X-Linked, Syndromic 32

Genetic tests related to Mental Retardation, X-Linked, Syndromic 32:

# Genetic test Affiliating Genes
1 Mental Retardation, X-Linked, Syndromic 32 29 CLIC2

Anatomical Context for Mental Retardation, X-Linked, Syndromic 32

MalaCards organs/tissues related to Mental Retardation, X-Linked, Syndromic 32:

40
Heart, Eye, Tongue

Publications for Mental Retardation, X-Linked, Syndromic 32

Articles related to Mental Retardation, X-Linked, Syndromic 32:

# Title Authors PMID Year
1
An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. 57 6
22814392 2012
2
A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics. 6
21630357 2011

Variations for Mental Retardation, X-Linked, Syndromic 32

ClinVar genetic disease variations for Mental Retardation, X-Linked, Syndromic 32:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLIC2 NM_001289.6(CLIC2):c.303C>G (p.His101Gln) SNV Pathogenic 39823 rs398122917 GRCh37: X:154509348-154509348
GRCh38: X:155280059-155280059
2 CLIC2 NM_001289.6(CLIC2):c.103C>T (p.Arg35Cys) SNV Uncertain significance 1029305 GRCh37: X:154528413-154528413
GRCh38: X:155299100-155299100

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, X-Linked, Syndromic 32:

72
# Symbol AA change Variation ID SNP ID
1 CLIC2 p.His101Gln VAR_068898 rs398122917

Expression for Mental Retardation, X-Linked, Syndromic 32

Search GEO for disease gene expression data for Mental Retardation, X-Linked, Syndromic 32.

Pathways for Mental Retardation, X-Linked, Syndromic 32

GO Terms for Mental Retardation, X-Linked, Syndromic 32

Sources for Mental Retardation, X-Linked, Syndromic 32

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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