X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MRXS32
X-linked intellectual deficit - cardiomegaly - congestive heart failure
Mental retardation, X-linked, syndromic 32
Number of Symptoms 22
OrphanetNr: 324410
OMIM Id: 300886
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 0.1 of 100 000
Inheritance: X-linked
22814392 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic cardiac rhythm disease
 -Rare cardiac disease
 -Rare genetic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Comment:

X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is caused by mutations in the gene CLIC2 enhancing ryanodine receptor channel activity (PMID:22814392).

Symptom Information: Sort by abundance 

1
 (HPO:0001650) Aortic valve stenosis 22814392 IBIS 49 / 7739
2
 (HPO:0005293) Venous insufficiency 22814392 IBIS 27 / 7739
3
 (HPO:0002510) Spastic tetraplegia 22814392 IBIS 54 / 7739
4
 (HPO:0002828) Multiple joint contractures 22814392 IBIS 16 / 7739
5
 (HPO:0001172) Abnormality of the thumb 22814392 IBIS 103 / 7739
6
 (HPO:0005110) Atrial fibrillation 22814392 IBIS 71 / 7739
7
 (HPO:0001249) Intellectual disability Very frequent [IBIS] 22814392 IBIS 1089 / 7739
8
 (HPO:0000053) Macroorchidism 22814392 IBIS 18 / 7739
9
 (HPO:0000400) Macrotia 22814392 IBIS 108 / 7739
10
 (HPO:0001250) Seizures 22814392 IBIS 1245 / 7739
11
 (HPO:0002187) Intellectual disability, profound 22814392 IBIS 44 / 7739
12
 (HPO:0001257) Spasticity rare [HPO:skoehler] 22814392 IBIS 251 / 7739
13
 (HPO:0001344) Absent speech 22814392 IBIS 57 / 7739
14
 (HPO:0001263) Global developmental delay 22814392 IBIS 853 / 7739
15
 (HPO:0002751) Kyphoscoliosis rare [HPO:skoehler] 22814392 IBIS 131 / 7739
16
 (HPO:0005781) Contractures of the large joints 22814392 IBIS 2 / 7739
17
 (HPO:0001640) Cardiomegaly Very frequent [IBIS] 22814392 IBIS 81 / 7739
18
 (HPO:0004749) Atrial flutter rare [HPO:skoehler] 22814392 IBIS 20 / 7739
19
 (HPO:0001635) Congestive heart failure Very frequent [IBIS] 22814392 IBIS 232 / 7739
20
 (OMIM) Valvular insufficiency 22814392 IBIS 2 / 7739
21
 (HPO:0000238) Hydrocephalus rare [HPO:skoehler] 22814392 IBIS 278 / 7739
22
 (OMIM) Abnormal positioning of the thumbs 22814392 IBIS 1 / 7739

Associated genes:

CLIC2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
CLIC2 rs398122917 pathogenic RCV000033043.15

Additional Information:

Clinical Description OMIM Takano et al. (2012) reported a family in which 2 brothers had profound mental retardation. Both had delayed psychomotor development beginning in infancy and had little or no speech development. Both also had seizures, large joint contractures, and ...
Molecular genetics OMIM Using exome capture and deep sequencing of genes on the X chromosome in a family with X-linked syndromic mental retardation, Takano et al. (2012) identified a missense mutation in the CLIC2 gene (H101Q; 300138.0001). The mother, who carried ...