ORPHA:33110

Autosomal non-syndromic agammaglobulinemia

Synonyms: Autosomal non-syndromic hypogammaglobulinemia · Non-syndromic agammaglobulinemia, non-Bruton type

Type: Clinical subtype
Group: Subtype of disorder
Inheritance: Autosomal dominant, Autosomal recessive
Age of onset: All ages
Status: active

A rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Autosomal non-syndromic agammaglobulinemia	Autosomal non-syndromic hypogammaglobulinemia · Non-syndromic agammaglobulinemia, non-Bruton type
fr	Agammaglobulinémie autosomique non syndromique	Agammaglobulinémie non syndromique type non-Bruton · Hypogammaglobulinémie autosomique non syndromique
de	Autosomale nicht-syndromale Agammaglobulinämie	Nicht-syndromale Agammaglobulinämie (anders als Bruton-Typ) · Autosomale nicht-syndromale Hypogammaglobulinämie
es	Agammaglobulinemia no sindrómica autosómica	Hipogammaglobulinemia no sindrómica autosómica · Agammaglobulinemia no sindrómica tipo no Bruton
it	Agammaglobulinemia autosomica non sindromica	Agammaglobulinemia non sindromica, tipo non-Bruton · Ipogammaglobulinemia non sindromica · Ipogammaglobulinemia autosomica non sindromica
nl	Autosomale niet-syndromale agammaglobulinemie	Niet-syndromale agammaglobulinemie, niet-Bruton-type · Autosomale niet-syndromale hypogammaglobulinemie
pt	Agamaglobulinemia autossómica não sindrómica	Agamaglobulinemia, tipo não-Bruton
pl	Autosomalna niesyndromiczna agammaglobulinemia	Agammaglobulinemia, typ non-Bruton
cs	Autozomální agamaglobulinémie	Non-Brutonova agamaglobulinémie
uk	Аутосомна агаммаглобулінемія	Агаммаглобулінемія, не за типом Брутона
zh	常染色体遗传性丙种球蛋白缺乏血症	丙种球蛋白缺乏血症，非Bruton型
tr	Otozomal agamaglobulinemi	Agammaglobulinemi, Bruton olmayan tip

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
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
OMIM	619281	BTNT		validated
OMIM	619707	BTNT		validated
OMIM	619824	BTNT		validated
ICD-10	D80.0	NTBT	inclusion	validated
ICD-11	4A01.00	NTBT	index	validated
MONDO	0011096	E		validated
MeSH	C538056	E		validated
UMLS	C1832241	E		validated
GARD	9640	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):

ORPHA:98004Rare immune disease

Parents in the classifications (1):

ORPHA:229717Non-syndromic agammaglobulinemia
rare gastroenterological diseases; rare genetic diseases; rare immunological diseases; rare transplant-related disorders

No children.

Genes

10 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
BLNK	Disease-causing germline mutation(s) in	Assessed	HGNC:14211	ENSG00000095585	604515	10q24.1	B cell linker	10583958[PMID]
CD79A	Disease-causing germline mutation(s) in	Assessed	HGNC:1698	ENSG00000105369	112205	19q13.2	CD79a molecule	11920841[PMID]
CD79B	Disease-causing germline mutation(s) in	Assessed	HGNC:1699	ENSG00000007312	147245	17q23.3	CD79b molecule	17709424[PMID]_17675462[PMID]
IGHM	Disease-causing germline mutation(s) in	Assessed	HGNC:5541	ENSG00000211899	147020	14q32.33	immunoglobulin heavy constant mu	8890099[PMID]
IGLL1	Disease-causing germline mutation(s) in	Assessed	HGNC:5870	ENSG00000128322	146770	22q11.23	immunoglobulin lambda like polypeptide 1	9419212[PMID]
LRRC8A	Disease-causing germline mutation(s) in	Assessed	HGNC:19027	ENSG00000136802	608360	9q34.11	leucine rich repeat containing 8 VRAC subunit A	14660746[PMID]
PIK3CD	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	Disease-causing germline mutation(s) in	Assessed	HGNC:8979	ENSG00000145675	171833	5q13.1	phosphoinositide-3-kinase regulatory subunit 1	22351933[PMID]
SPI1	Disease-causing germline mutation(s) in	Assessed	HGNC:11241	ENSG00000066336	165170	11p11.2	Spi-1 proto-oncogene	33951726[PMID]
TCF3	Disease-causing germline mutation(s) in	Assessed	HGNC:11633	ENSG00000071564	147141	19p13.3	transcription factor 3	24216514[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		100 cases	Worldwide	Case(s)	Validated	[EXPERT]
Point prevalence	<1 / 1 000 000	—	Europe	Class only	Not yet 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

29 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0004432	Agammaglobulinemia
HP:0000389	Chronic otitis media
HP:0000509	Conjunctivitis
HP:0012735	Cough
HP:0002014	Diarrhea
HP:0012378	Fatigue
HP:0001945	Fever
HP:0002721	Immunodeficiency
HP:0002719	Recurrent infections
HP:0002205	Recurrent respiratory infections
HP:0001581	Recurrent skin infections
HP:0000246	Sinusitis
HP:0000988	Skin rash
Frequent (79-30%)
HP:0001369	Arthritis
HP:0001508	Failure to thrive
HP:0002754	Osteomyelitis
Occasional (29-5%)
HP:0000377	Abnormal pinna morphology
HP:0002110	Bronchiectasis
HP:0100658	Cellulitis
HP:0001875	Decreased total neutrophil count
HP:0001944	Dehydration
HP:0000286	Epicanthus
HP:0012115	Hepatitis
HP:0000218	High palate
HP:0000316	Hypertelorism
HP:0002024	Malabsorption
HP:0001287	Meningitis
HP:0100806	Sepsis
HP:0200043	Verrucae

Run the differential on the 12 obligate / very frequent terms

Sources for this card

Orphanet page: orpha.net/en/disease/detail/33110
This record as JSON: /data/d/33110.json