Good syndrome

Summary

Good syndrome (MONDO:0015696) 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 / 100 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 20

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		241	Worldwide	Validated
Point prevalence	1-9 / 100 000	1	Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

20 HPO clinical features (Orphanet curated; top 20 by frequency):

HPO ID	Term	Frequency
HP:0004313	Decreased circulating antibody level	Very frequent (80-99%)
HP:0100522	Thymoma	Very frequent (80-99%)
HP:0100721	Mediastinal lymphadenopathy	Very frequent (80-99%)
HP:0000010	Recurrent urinary tract infections	Frequent (30-79%)
HP:0000246	Sinusitis	Frequent (30-79%)
HP:0000508	Ptosis	Frequent (30-79%)
HP:0001581	Recurrent skin infections	Frequent (30-79%)
HP:0001618	Dysphonia	Frequent (30-79%)
HP:0001881	Abnormal leukocyte morphology	Frequent (30-79%)
HP:0002015	Dysphagia	Frequent (30-79%)
HP:0002094	Dyspnea	Frequent (30-79%)
HP:0002110	Bronchiectasis	Frequent (30-79%)
HP:0003473	Fatigable weakness	Frequent (30-79%)
HP:0012735	Cough	Frequent (30-79%)
HP:0000819	Diabetes mellitus	Occasional (5-29%)
HP:0001873	Thrombocytopenia	Occasional (5-29%)
HP:0001903	Anemia	Occasional (5-29%)
HP:0002014	Diarrhea	Occasional (5-29%)
HP:0002205	Recurrent respiratory infections	Occasional (5-29%)
HP:0010515	Aplasia/Hypoplasia of the thymus	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Good syndrome
Mondo ID	MONDO:0015696
Orphanet	169105
DOID	DOID:0060028
ICD-11	812332735
SNOMED CT	9893005
UMLS	C0221027
MedGen	67437
GARD	0008622
Is cancer (heuristic)	no

Also known as: immunodeficiency with thymoma · thymoma-immunodeficiency · thymoma-immunodeficiency syndrome

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 › Good syndrome

Related subtypes (9): congenital agammaglobulinemia, immunodeficiency 61, isolated agammaglobulinemia, 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

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.