Combined immunodeficiency due to TBX1 mutation
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare combined immunodeficiency characterized by velo-cardio-facial gestalt (short and narrow palpebral fissures, tubulous nose, small mouth, micrognathia, low-set ears, flattened malar eminences, broad cheeks), congenital heart defect, abnormal thymus and parathyroid, and velopharyngeal insufficiency. Short stature and psychiatric disorders may also present. Developmental and speech delay were reported in few patients. Even though patients carrying <i>TBX1</i> mutations may manifest clinical features that are overlapping with 22q11.2 deletion syndrome, the presence and frequency of these symptoms significantly differs; not all patients with <i>TBX1</i> mutations have congenital heart defect, hypocalcemia, psychiatric disorders or developmental delay contrary to 22q11.2 deletion syndrome patients where these features are commonly present.
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined immunodeficiency due to TBX1 mutation | |
| fr | Déficit immunitaire combiné dû à une mutation de TBX1 | |
| de | Kombinierter Immundefekt durch TBX1-Mangel | CID durch TBX1-Defizienz |
| es | Inmunodeficiencia combinada por mutación en el gen TBX1 | |
| it | Immunodeficienza combinata da mutazione del gene TBX1 | |
| nl | Gecombineerde immuundeficiëntie door TBX1-deficiëntie | CID door TBX1-deficiëntie |
| pt | Imunodeficiência combinada devido a deficiência TBX1 | |
| pl | Skojarzony niedobór odporności spowodowany niedoborem TBX1 | |
| cs | Kombinovaná imunodeficience způsobená deficitem TBX1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 188400 | NTBT | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | attributed | validated |
| MONDO | 975891 | 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 (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:331220Syndome with combined immunodeficiency due to thymic defect
rare genetic diseases; rare immunological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TBX1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11592 | ENSG00000184058 | 602054 | 22q11.21 | T-box transcription factor 1 | 17273972[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 195 cases | Worldwide | Case(s) | Validated | 11713452[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 11713452[PMID]_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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/685017
- This record as JSON: /data/d/685017.json