Isolated agammaglobulinemia

Summary

Isolated agammaglobulinemia (MONDO:0016462) is a disease. A subtype of agammaglobulinemia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: 1-9 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 28

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 1 000 000	0.3	Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

28 HPO clinical features (Orphanet curated; top 28 by frequency):

HPO ID	Term	Frequency
HP:0000246	Sinusitis	Very frequent (80-99%)
HP:0000388	Otitis media	Very frequent (80-99%)
HP:0000988	Skin rash	Very frequent (80-99%)
HP:0001508	Failure to thrive	Very frequent (80-99%)
HP:0001945	Fever	Very frequent (80-99%)
HP:0002014	Diarrhea	Very frequent (80-99%)
HP:0002205	Recurrent respiratory infections	Very frequent (80-99%)
HP:0002721	Immunodeficiency	Very frequent (80-99%)
HP:0004332	Abnormal lymphocyte morphology	Very frequent (80-99%)
HP:0012378	Fatigue	Very frequent (80-99%)
HP:0100533	Inflammatory abnormality of the eye	Very frequent (80-99%)
HP:0100838	Recurrent cutaneous abscess formation	Very frequent (80-99%)
HP:0200042	Skin ulcer	Very frequent (80-99%)
HP:0001874	Abnormality of neutrophils	Frequent (30-79%)
HP:0002090	Pneumonia	Frequent (30-79%)
HP:0100763	Abnormality of the lymphatic system	Frequent (30-79%)
HP:0001287	Meningitis	Occasional (5-29%)
HP:0001369	Arthritis	Occasional (5-29%)
HP:0001864	Clinodactyly of the 5th toe	Occasional (5-29%)
HP:0001873	Thrombocytopenia	Occasional (5-29%)
HP:0001903	Anemia	Occasional (5-29%)
HP:0001999	Abnormal facial shape	Occasional (5-29%)
HP:0002024	Malabsorption	Occasional (5-29%)
HP:0002960	Autoimmunity	Occasional (5-29%)
HP:0004322	Short stature	Occasional (5-29%)
HP:0100658	Cellulitis	Occasional (5-29%)
HP:0100765	Abnormality of the tonsils	Occasional (5-29%)
HP:0100806	Sepsis	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	isolated agammaglobulinemia
Mondo ID	MONDO:0016462
Orphanet	229717
SNOMED CT	764858009
UMLS	C4707181
MedGen	1639972
GARD	0017155
Is cancer (heuristic)	no

Also known as: isolated hypogammaglobulinemia · nonsyndromic agammaglobulinemia

Disease family

This is a subtype of agammaglobulinemia. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › immune system disorder › inborn error of immunity › B cell deficiency › agammaglobulinemia › isolated agammaglobulinemia

Related subtypes (9): congenital agammaglobulinemia, immunodeficiency 61, Good syndrome, syndromic agammaglobulinemia, activated PI3K-delta syndrome, agammaglobulinemia 9, autosomal recessive, agammaglobulinemia 10, autosomal dominant, agammaglobulinemia, autosomal recessive, due to BOB1 deficiency, agammaglobulinemia 8b, autosomal recessive

Subtypes (2): Bruton-type agammaglobulinemia, autosomal agammaglobulinemia

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.