GNB5-related intellectual disability-cardiac arrhythmia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy
- Status
- active
A rare genetic disease characterized by intellectual disability, developmental delay, language deficits, and cardiac arrhythmia (most commonly sick sinus syndrome). Additional reported features include epilepsy, hypotonia, retinal abnormalities, nystagmus, attention deficit hyperactivity disorder, autism, and gastroesophageal reflux. The severity of the phenotype is highly variable.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | GNB5-related intellectual disability-cardiac arrhythmia syndrome | |
| fr | Syndrome de déficience intellectuelle-arythmie cardiaque associé à GNB5 | |
| de | Intelligenzminderung-Herzrhythmusstörung-Syndrom durch GNB5-Mangel | |
| es | Síndrome de discapacidad intelectual-arritmia cardíaca por deficiencia de GNB5 | |
| it | Sindrome disabilità intellettiva-aritmia cardiaca correlata a GNB5 | |
| nl | Intellectuele achterstand - hartaritmie-syndroom door GNB5-deficiëntie | |
| pt | Síndrome de perturbação do desenvolvimento intelectual-arritmia cardíaca GNB5-relacionado | |
| pl | Zespół niepełnosprawności intelektualnej i arytmii serca zwiazany z GNB5 | |
| cs | Syndrom zahrnující mentální retardaci a srdeční arytmii způsobený deficitem GNB5 | |
| uk | Синдром серцевої аритмії, повязаний з інтелектуальною недостатністю та серцевою аритмією, спричиненою GNB5 | |
| zh | GNB5基因相关的智力障碍-心律失常综合征 | |
| tr | GNB5-ilişkili zihinsel yetersizlik-kardiyak aritmi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617173 | BTNT | validated | |
| OMIM | 617182 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | BC65.Y | NTBT | attributed | validated |
| MONDO | 0014953 | E | validated | |
| UMLS | C5568877 | 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 |
|---|---|---|---|---|---|---|---|---|
| GNB5 | Disease-causing germline mutation(s) in | Assessed | HGNC:4401 | ENSG00000069966 | 604447 | 15q21.2 | G protein subunit beta 5 | 27523599[PMID]_30631341[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 22 cases | Worldwide | Case(s) | Validated | 27523599[PMID]_27677260[PMID]_28697420[PMID]_29368331[PMID]_30631341[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
22 annotations · validated 2020-08-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001626 | Abnormality of the cardiovascular system | |
| HP:0001263 | Global developmental delay | |
| Frequent (79-30%) | ||
| HP:0000512 | Abnormal electroretinogram | |
| HP:0001344 | Absent speech | |
| HP:0011675 | Arrhythmia | |
| HP:0001662 | Bradycardia | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001252 | Hypotonia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000639 | Nystagmus | |
| HP:0001250 | Seizure | |
| HP:0011704 | Sick sinus syndrome | |
| HP:0005155 | Ventricular escape rhythm | |
| Occasional (29-5%) | ||
| HP:0002521 | Hypsarrhythmia | |
| HP:0000563 | Keratoconus | |
| HP:0001655 | Patent foramen ovale | |
| HP:0007010 | Poor fine motor coordination | |
| HP:0002421 | Poor head control | |
| HP:0012248 | Prolonged PR interval | |
| HP:0000817 | Reduced eye contact | |
| HP:0000546 | Retinal degeneration | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 32280589[PMID]_27523599[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/542306
- This record as JSON: /data/d/542306.json