Late-onset focal dermal elastosis

Summary

Late-onset focal dermal elastosis (MONDO:0016437) is a disease. A subtype of dermis disorder — 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		5	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Identifiers

Disease identifiers

Field	Value
Canonical name	late-onset focal dermal elastosis
Mondo ID	MONDO:0016437
Orphanet	228227
UMLS	C4751167
MedGen	1658281
GARD	0020578
Is cancer (heuristic)	no

Also known as: pseudoxanthoma-like late-onset focal dermal elastosis · PXE-like late-onset focal dermal elastosis

Disease family

Classification path: disease › human disease › disease by body system or component › integumentary system disorder › skin disorder › dermis disorder › late-onset focal dermal elastosis

Related subtypes (27): dermis tumor, necrobiosis lipoidica, isolated anhidrosis with normal sweat glands, familial cutaneous collagenoma, elastosis perforans serpiginosa, progressive osseous heteroplasia, antecubital pterygium syndrome, familial reactive perforating collagenosis, dermochondrocorneal dystrophy, lipoid proteinosis, primary cutaneous amyloidosis, linear atrophoderma of Moulin, confetti-like macular atrophy, linear focal dermal elastosis, elastoderma, elastoma, papular elastorrhexis, primary anetoderma, familial anetoderma, white fibrous papulosis of the neck, mid-dermal elastolysis, lichen myxedematosus, pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa, primary cutis verticis gyrata, mixed dermis disorder, atrophoderma of Pierini and Pasini, annular erythema of infancy

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.