MRXS32
MCID: MNT207
MIFTS: 21

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 58 12 30 13 6 74
Mrxs32 58 12 76
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome 12 60
Mental Retardation, X-Linked, Syndromic, Type 32 41
Mental Retardation, X-Linked, Syndromic, 32 76

Characteristics:

Orphanet epidemiological data:

60
x-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
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:

33
mental retardation, x-linked, syndromic 32:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Mental Retardation, X-Linked, Syndromic 32

UniProtKB/Swiss-Prot : 76 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, and related phenotypes are hydrocephalus and spasticity

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.

Description from OMIM: 300886

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:

33 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 33 occasional (7.5%) HP:0000238
2 spasticity 33 occasional (7.5%) HP:0001257
3 kyphoscoliosis 33 occasional (7.5%) HP:0002751
4 atrial flutter 33 occasional (7.5%) HP:0004749
5 seizures 33 HP:0001250
6 macrotia 33 HP:0000400
7 global developmental delay 33 HP:0001263
8 macroorchidism 33 HP:0000053
9 cardiomegaly 33 HP:0001640
10 congestive heart failure 33 HP:0001635
11 absent speech 33 HP:0001344
12 intellectual disability, profound 33 HP:0002187
13 contractures of the large joints 33 HP:0005781

Symptoms via clinical synopsis from OMIM:

58
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

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 30 CLIC2

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

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

42
Heart

Publications for Mental Retardation, X-Linked, Syndromic 32

Variations for Mental Retardation, X-Linked, Syndromic 32

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

76
# Symbol AA change Variation ID SNP ID
1 CLIC2 p.His101Gln VAR_068898 rs398122917

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CLIC2 NM_001289.5(CLIC2): c.303C> G (p.His101Gln) single nucleotide variant Pathogenic rs398122917 GRCh37 Chromosome X, 154509348: 154509348
2 CLIC2 NM_001289.5(CLIC2): c.303C> G (p.His101Gln) single nucleotide variant Pathogenic rs398122917 GRCh38 Chromosome X, 155280059: 155280059

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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