Progeroid facial appearance with hand anomalies

Summary

Progeroid facial appearance with hand anomalies (MONDO:0011209) is a disease. A subtype of progeroid syndrome — 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	progeroid facial appearance with hand anomalies
Mondo ID	MONDO:0011209
MeSH	C566563
OMIM	602249
UMLS	C1865699
MedGen	356343
GARD	0027798
Is cancer (heuristic)	no

Also known as: progeroid facial appearance with hand anomalies

Disease family

This is a subtype of progeroid 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 etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › progeroid syndrome › progeroid facial appearance with hand anomalies

Related subtypes (15): Hutchinson-Gilford progeria syndrome, Wiedemann-Rautenstrauch syndrome, Werner syndrome, XFE progeroid syndrome, Fontaine progeroid syndrome, Nestor-Guillermo progeria syndrome, mandibular hypoplasia-deafness-progeroid syndrome, progeroid and marfanoid aspect-lipodystrophy syndrome, Cockayne syndrome, mandibuloacral dysplasia progeroid syndrome, achalasia-progeroid syndrome, Fischer-Zirnsak progeroid syndrome, Marbach-Rustad progeroid syndrome, RECON progeroid syndrome, Garg-Mishra progeroid 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

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.