X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome | |
| fr | Syndrome de déficience intellectuelle liée à l'X-cardiomégalie-insuffisance cardiaque congénitale | |
| de | X-chromosomale Intelligenzminderung-Kardiomegalie-kongestive Herzinsuffizienz-Syndrom | |
| es | Síndrome de discapacidad intelectual-cardiomegalia-insuficiencia cardíaca congestiva ligado al cromosoma X | |
| it | Sindrome deficit cognitivo legato all'X-cardiomegalia-insufficienza cardiaca congestizia | |
| nl | X-gebonden intellectuele achterstand - cardiomegalie - congestief hartfalen-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento intelectual ligada ao X-cardiomegália-insuficiência cardíaca congestiva | |
| pl | Niepełnosprawność intelektualna sprzężona z chromosomem X - kardiomegalia - niewydolność serca | |
| cs | X-vázaný syndrom zahrnující mentální retardaci, kardiomegalii a městnavé srdeční selhání | |
| uk | Х-зчеплений синдром розумової відсталості-кардіомегалія-застійної серцевої недостатності | |
| zh | X连锁智力障碍-心脏扩大-充血性心力衰竭综合征 | |
| tr | X'e bağlı zihinsel yetersizlik-kardiyomegali-konjestif kalp yetmezliği sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300886 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0010473 | E | validated | |
| UMLS | C4751008 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:101934Genetic cardiac rhythm disease
rare cardiac diseases; rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CLIC2 | Disease-causing germline mutation(s) in | Assessed | HGNC:2063 | ENSG00000155962 | 300138 | Xq28 | CLIC family member 2 | 22814392[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 22814392[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
30 annotations · validated 2019-08-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0006705 | Abnormal atrioventricular valve morphology | |
| HP:0001172 | Abnormal thumb morphology | |
| HP:0001344 | Absent speech | |
| HP:0001640 | Cardiomegaly | |
| HP:0001635 | Congestive heart failure | |
| HP:0005781 | Contractures of the large joints | |
| HP:0001263 | Global developmental delay | |
| HP:0002187 | Intellectual disability, profound | |
| HP:0000400 | Macrotia | |
| HP:0000396 | Overfolded helix | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0001650 | Aortic valve stenosis | |
| HP:0004749 | Atrial flutter | |
| HP:0000414 | Bulbous nose | |
| HP:0000280 | Coarse facial features | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0002540 | Inability to walk | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0000053 | Macroorchidism | |
| HP:0000303 | Mandibular prognathia | |
| HP:0001653 | Mitral regurgitation | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0002465 | Poor speech | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0010808 | Protruding tongue | |
| HP:0000319 | Smooth philtrum | |
| HP:0002510 | Spastic tetraplegia | |
| HP:0003376 | Steppage gait | |
| HP:0005180 | Tricuspid regurgitation | |
Annotation source: 21630357[PMID]_22814392[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/324410
- This record as JSON: /data/d/324410.json