Congenital agammaglobulinemia

Summary

Congenital agammaglobulinemia (MONDO:0001902) is a disease. A subtype of congenital hematological disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	congenital agammaglobulinemia
Mondo ID	MONDO:0001902
DOID	DOID:14177
UMLS	C5574711
MedGen	1806025
GARD	0023034
Is cancer (heuristic)	no

Also known as: congenital agammaglobulinemia · congenital hypogammaglobulinemia (finding)

Disease family

An umbrella term covering 2 Mondo subtypes.

Classification path: disease › human disease › disease by body system or component › hematologic disorder › congenital hematological disorder › congenital agammaglobulinemia

Related subtypes (20): congenital anemia, sulfhemoglobinemia, congenital, congenital factor XII deficiency, leukocyte adhesion deficiency type II, thrombocytopenia-absent radius syndrome, congenital thrombotic thrombocytopenic purpura, radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome, GNE myopathy, hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency, congenital factor XI deficiency, congenital plasminogen activator inhibitor type 1 deficiency, congenital analbuminemia, macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, constitutional neutropenia, congenital vitamin K-dependent coagulation factors deficiency, congenital secondary polycythemia, hereditary thrombocytosis with transverse limb defect, congenital factor XIII deficiency, congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome, congenital amegakaryocytic thrombocytopenia 1

Subtypes (2): agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome, short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

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.