Dianzani autoimmune lymphoproliferative disease

Summary

Dianzani autoimmune lymphoproliferative disease (MONDO:0011524) is a disease. A subtype of lymphoproliferative syndrome — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		30	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	Dianzani autoimmune lymphoproliferative disease
Mondo ID	MONDO:0011524
MeSH	C535950
OMIM	605233
Orphanet	275523
SNOMED CT	721093000
UMLS	C2931071
MedGen	418980
GARD	0009797
Is cancer (heuristic)	no

Also known as: autoimmune lymphoproliferative syndrome without FAS mutations · DALD · Dianzani autoimmune lymphoproliferative disease · Dianzani autoimmune lymphoproliferative syndrome · Dianzani form of autoimmune lymphoproliferative disease

Disease family

This is a subtype of lymphoproliferative syndrome. 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 › lymphoproliferative syndrome › Dianzani autoimmune lymphoproliferative disease

Related subtypes (7): X-linked lymphoproliferative syndrome, lymphoproliferative syndrome 1, lymphoproliferative syndrome 2, Castleman disease, autoimmune lymphoproliferative syndrome, severe combined immunodeficiency due to CD70 deficiency, atypical lymphoproliferative disorder

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.