MCID: MNT207
MIFTS: 21

Mental Retardation, X-Linked, Syndromic 32

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases, Cardiovascular diseases, Fetal diseases, Eye diseases, Bone 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 73
Mrxs32 57 12 75
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome 12 59
Mental Retardation, X-Linked, Syndromic, Type 32 40
Mental Retardation, X-Linked, Syndromic, 32 75

Characteristics:

Orphanet epidemiological data:

59
x-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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:

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


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Mental Retardation, X-Linked, Syndromic 32

UniProtKB/Swiss-Prot : 75 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 macroorchidism and hydrocephalus

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 macroorchidism 32 HP:0000053
2 hydrocephalus 32 occasional (7.5%) HP:0000238
3 macrotia 32 HP:0000400
4 seizures 32 HP:0001250
5 spasticity 32 occasional (7.5%) HP:0001257
6 global developmental delay 32 HP:0001263
7 absent speech 32 HP:0001344
8 congestive heart failure 32 HP:0001635
9 cardiomegaly 32 HP:0001640
10 intellectual disability, profound 32 HP:0002187
11 kyphoscoliosis 32 occasional (7.5%) HP:0002751
12 atrial flutter 32 occasional (7.5%) HP:0004749
13 contractures of the large joints 32 HP:0005781

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:

41
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:

75
# 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 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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