ORPHA:229717
Non-syndromic agammaglobulinemia
Synonyms: Non-syndromic hypogammaglobulinemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-syndromic agammaglobulinemia | Non-syndromic hypogammaglobulinemia |
| fr | Agammaglobulinémie non syndromique | Hypogammaglobulinémie non syndromique |
| de | Agammaglobulinämie, nicht-syndromale | Hypoagammaglobulinämie, nicht-syndromale |
| es | Agammaglobulinemia no sindrómica | Hipogammaglobulinemia no sindrómica |
| it | Agammaglobulinemia non sindromica | Ipogammaglobulinemia non sindromica |
| nl | Niet-syndromale agammaglobulinemie | Niet-syndromale hypogammaglobulinemie |
| pt | Agamaglobulinemia isolada | Hipogamaglobulinemia isolada |
| pl | Niesyndromiczna agammaglobulinemia | Hipogammaglobulinemia izolowana |
| cs | Izolovaná agamaglobulinémie | Izolovaná hypogamaglobulinémie |
| uk | Ізольована агаммаглобулінемія | Ізольована гіпогаммаглобулінемія |
| zh | 孤立性无丙种球蛋白血症 | 孤立性低丙种球蛋白血症 |
| tr | İzole agamaglobulinemi | İzole hipogamaglobulinemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300310 | BTNT | validated | |
| OMIM | 300755 | BTNT | validated | |
| OMIM | 601495 | BTNT | validated | |
| OMIM | 612692 | BTNT | validated | |
| OMIM | 613500 | BTNT | validated | |
| OMIM | 613501 | BTNT | validated | |
| OMIM | 613502 | BTNT | validated | |
| OMIM | 613506 | BTNT | validated | |
| OMIM | 615214 | BTNT | validated | |
| OMIM | 616941 | BTNT | validated | |
| ICD-10 | D80.0 | E | specific | validated |
| ICD-11 | 4A01.00 | NTBT | index | validated |
| MONDO | 0016462 | E | validated | |
| UMLS | C4707181 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:183669Agammaglobulinemia
rare genetic diseases; rare immunological diseases - ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
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Genes
0 direct · 11 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| BLNK | ORPHA:33110Autosomal non-syndromic agammaglobulinemia | Disease-causing germline mutation(s) in | Assessed | HGNC:14211 | ENSG00000095585 | 604515 | 10q24.1 | B cell linker | 10583958[PMID] |
| BTK | ORPHA:47X-linked agammaglobulinemia | Disease-causing germline mutation(s) in | Assessed | HGNC:1133 | ENSG00000010671 | 300300 | Xq22.1 | Bruton tyrosine kinase | 20301626[PMID] |
| CD79A | ORPHA:33110Autosomal non-syndromic agammaglobulinemia | Disease-causing germline mutation(s) in | Assessed | HGNC:1698 | ENSG00000105369 | 112205 | 19q13.2 | CD79a molecule | 11920841[PMID] |
| CD79B | ORPHA:33110Autosomal non-syndromic agammaglobulinemia | Disease-causing germline mutation(s) in | Assessed | HGNC:1699 | ENSG00000007312 | 147245 | 17q23.3 | CD79b molecule | 17709424[PMID]_17675462[PMID] |
| IGHM | ORPHA:33110Autosomal non-syndromic agammaglobulinemia | Disease-causing germline mutation(s) in | Assessed | HGNC:5541 | ENSG00000211899 | 147020 | 14q32.33 | immunoglobulin heavy constant mu | 8890099[PMID] |
| IGLL1 | ORPHA:33110Autosomal non-syndromic agammaglobulinemia | Disease-causing germline mutation(s) in | Assessed | HGNC:5870 | ENSG00000128322 | 146770 | 22q11.23 | immunoglobulin lambda like polypeptide 1 | 9419212[PMID] |
| LRRC8A | ORPHA:33110Autosomal non-syndromic agammaglobulinemia | Disease-causing germline mutation(s) in | Assessed | HGNC:19027 | ENSG00000136802 | 608360 | 9q34.11 | leucine rich repeat containing 8 VRAC subunit A | 14660746[PMID] |
| PIK3CD | ORPHA:33110Autosomal non-syndromic agammaglobulinemia | Disease-causing germline mutation(s) in | Assessed | HGNC:8977 | ENSG00000171608 | 602839 | 1p36.22 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | 22351933[PMID] |
| PIK3R1 | ORPHA:33110Autosomal non-syndromic agammaglobulinemia | Disease-causing germline mutation(s) in | Assessed | HGNC:8979 | ENSG00000145675 | 171833 | 5q13.1 | phosphoinositide-3-kinase regulatory subunit 1 | 22351933[PMID] |
| SPI1 | ORPHA:33110Autosomal non-syndromic agammaglobulinemia | Disease-causing germline mutation(s) in | Assessed | HGNC:11241 | ENSG00000066336 | 165170 | 11p11.2 | Spi-1 proto-oncogene | 33951726[PMID] |
| TCF3 | ORPHA:33110Autosomal non-syndromic agammaglobulinemia | Disease-causing germline mutation(s) in | Assessed | HGNC:11633 | ENSG00000071564 | 147141 | 19p13.3 | transcription factor 3 | 24216514[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.3 / 100 000 | Worldwide | Value and class | 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.
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HPO phenotypes
28 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004332 | Abnormal lymphocyte morphology | |
| HP:0002014 | Diarrhea | |
| HP:0001508 | Failure to thrive | |
| HP:0012378 | Fatigue | |
| HP:0001945 | Fever | |
| HP:0002721 | Immunodeficiency | |
| HP:0100533 | Inflammatory abnormality of the eye | |
| HP:0000388 | Otitis media | |
| HP:0100838 | Recurrent cutaneous abscess formation | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000246 | Sinusitis | |
| HP:0000988 | Skin rash | |
| HP:0200042 | Skin ulcer | |
| Frequent (79-30%) | ||
| HP:0001874 | Abnormality of neutrophils | |
| HP:0100763 | Abnormality of the lymphatic system | |
| HP:0002090 | Pneumonia | |
| Occasional (29-5%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0100765 | Abnormality of the tonsils | |
| HP:0001903 | Anemia | |
| HP:0001369 | Arthritis | |
| HP:0002960 | Autoimmunity | |
| HP:0100658 | Cellulitis | |
| HP:0001864 | Clinodactyly of the 5th toe | |
| HP:0002024 | Malabsorption | |
| HP:0001287 | Meningitis | |
| HP:0100806 | Sepsis | |
| HP:0004322 | Short stature | |
| HP:0001873 | Thrombocytopenia | |
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/229717
- This record as JSON: /data/d/229717.json