ORPHA:47
X-linked agammaglobulinemia
Synonyms: BTK-deficiency · Bruton type agammaglobulinemia
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- active
A clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, characterized in affected males by recurrent bacterial infections during infancy.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked agammaglobulinemia | BTK-deficiency · Bruton type agammaglobulinemia |
| fr | Agammaglobulinémie liée à l'X | Agammaglobulinémie type Bruton · Déficit en BTK |
| de | Agammaglobulinämie, X-chromosomale | Agammaglobulinämie Typ Bruton · BTK-Defizienz · BTK-Mangel |
| es | Agammaglobulinemia ligada al cromosoma X | Agammaglobulinemia tipo Bruton · Deficiencia de BTK |
| it | Agammaglobulinemia legata all'X | Agammaglobulinemia, tipo Bruton · Deficit di BTK |
| nl | X-gebonden agammaglobulinemie | BTK-deficiëntie · Bruton-type agammaglobulinemie |
| pt | Agamaglobulinemia ligada ao X | Agamaglobulinemia tipo Brutton · Deficiência de BTK |
| pl | Agammaglobulinemia sprzężona z chromosomem X | Agammaglobulinemia typu Brutona · Niedobór BTK |
| cs | X-vázaná agamaglobulinemie | Deficit BTK · Brutonova agamaglobulinemie · X-vázaná hypogamaglobulinemie · Brutonova nemoc |
| uk | Х-зчеплена агаммаглобулінемія | Агаммаглобулінемія типу Брутона · Дефіцит BTK |
| zh | X连锁无丙种球蛋白血症 | Bruton型无丙种球蛋白血症 |
| tr | X'e bağlı agamaglobulinemi | BTK-eksikliği · Bruton tipi agamaglobulinemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300310 | BTNT | validated | |
| OMIM | 300755 | E | validated | |
| ICD-10 | D80.0 | NTBT | inclusion | validated |
| ICD-11 | 4A01.00 | NTBT | index | validated |
| MONDO | 0010421 | E | validated | |
| MeSH | C537409 | E | validated | |
| UMLS | C0221026 | E | validated | |
| GARD | 1033 | E | validated | |
| MedDRA | 10060360 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:229717Non-syndromic agammaglobulinemia
rare gastroenterological diseases; rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BTK | Disease-causing germline mutation(s) in | Assessed | HGNC:1133 | ENSG00000010671 | 300300 | Xq22.1 | Bruton tyrosine kinase | 20301626[PMID] |
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Prevalence and incidence
19 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 100 000 | Europe | Value and class | Not yet validated | 19419768[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.22 / 100 000 | Worldwide | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 1 000 000 | 0.18 / 100 000 | France | Value and class | Validated | 19419768[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.21 / 100 000 | Italy | Value and class | Validated | 19419768[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.08 / 100 000 | United Kingdom | Value and class | Validated | 19419768[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.06 / 100 000 | Spain | Value and class | Validated | 19419768[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.03 / 100 000 | Germany | Value and class | Validated | 19419768[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.09 / 100 000 | Poland | Value and class | Validated | 19419768[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.13 / 100 000 | Croatia | Value and class | Validated | 19419768[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.16 / 100 000 | Hungary | Value and class | Validated | 19419768[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.25 / 100 000 | North Macedonia | Value and class | Validated | 19419768[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 100 000 | Slovenia | Value and class | Validated | 19419768[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.09 / 100 000 | Serbia | Value and class | Validated | 19419768[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.04 / 100 000 | Ukraine | Value and class | Validated | 19419768[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.06 / 100 000 | Belarus | Value and class | Validated | 19419768[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.03 / 100 000 | Romania | Value and class | Validated | 19419768[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.26 / 100 000 | United States | Value and class | Validated | 16862044[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.07 / 100 000 | United States | Value and class | Validated | 16862044[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.11 / 100 000 | Korea, Republic of | Value and class | Validated | 22787376[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
35 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100763 | Abnormality of the lymphatic system | |
| HP:0100765 | Abnormality of the tonsils | |
| HP:0004432 | Agammaglobulinemia | |
| HP:0002028 | Chronic diarrhea | |
| HP:0000389 | Chronic otitis media | |
| HP:0000509 | Conjunctivitis | |
| HP:0001508 | Failure to thrive | |
| HP:0012378 | Fatigue | |
| HP:0001945 | Fever | |
| HP:0000162 | Glossoptosis | |
| HP:0002721 | Immunodeficiency | |
| HP:0100838 | Recurrent cutaneous abscess formation | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0004322 | Short stature | |
| HP:0000246 | Sinusitis | |
| HP:0000988 | Skin rash | |
| HP:0200042 | Skin ulcer | |
| Frequent (79-30%) | ||
| HP:0002088 | Abnormal lung morphology | |
| HP:0001369 | Arthritis | |
| HP:0100658 | Cellulitis | |
| HP:0001875 | Decreased total neutrophil count | |
| HP:0002901 | Hypocalcemia | |
| HP:0001287 | Meningitis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0100806 | Sepsis | |
| Occasional (29-5%) | ||
| HP:0001596 | Alopecia | |
| HP:0001903 | Anemia | |
| HP:0002960 | Autoimmunity | |
| HP:0012115 | Hepatitis | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0002024 | Malabsorption | |
| HP:0002664 | Neoplasm | |
| HP:0002754 | Osteomyelitis | |
| HP:0001873 | Thrombocytopenia | |
| HP:0001824 | Weight loss | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/47
- This record as JSON: /data/d/47.json