cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation

Summary

cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation (MONDO:0971094) is a disease. A subtype of polyvalvular heart disease syndrome — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• ClinVar variants: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation
Mondo ID	MONDO:0971094
Orphanet	664401
UMLS	C5925073
MedGen	1863549
GARD	0027175
Is cancer (heuristic)	no

Data availability: 1 ClinVar variant.

Disease family

This is a subtype of polyvalvular heart disease 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 › cardiovascular disorder › heart disorder › polyvalvular heart disease syndrome › cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation

Related subtypes (1): 6q25.1 microdeletion syndrome

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

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
561124	NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter)	LOC126859827	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts

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.