Limited cutaneous systemic sclerosis

disease

On this page

Also known as limited cutaneous systemic sclerodermalimited scleroderma

Summary

Limited cutaneous systemic sclerosis (MONDO:0016358) is a disease and 2 clinical trials. Top therapeutic interventions include mycophenolate mofetil. A subtype of systemic sclerosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

Phenotypes (HPO): 15
Clinical trials: 2

Clinical features

Signs & symptoms

Clinical features (HPO)

15 HPO clinical features (Orphanet curated; top 15 by frequency):

HPO ID	Term	Frequency
HP:0000951	Abnormality of the skin	Very frequent (80-99%)
HP:0001000	Abnormality of skin pigmentation	Very frequent (80-99%)
HP:0001053	Hypopigmented skin patches	Very frequent (80-99%)
HP:0002960	Autoimmunity	Very frequent (80-99%)
HP:0100958	Narrow foramen obturatorium	Very frequent (80-99%)
HP:0002015	Dysphagia	Frequent (30-79%)
HP:0002017	Nausea and vomiting	Frequent (30-79%)
HP:0002020	Gastroesophageal reflux	Frequent (30-79%)
HP:0100579	Mucosal telangiectasiae	Frequent (30-79%)
HP:0100585	Telangiectasia of the skin	Frequent (30-79%)
HP:0200042	Skin ulcer	Frequent (30-79%)
HP:0002092	Pulmonary arterial hypertension	Occasional (5-29%)
HP:0002206	Pulmonary fibrosis	Occasional (5-29%)
HP:0008366	Foot joint contracture	Occasional (5-29%)
HP:0009473	Joint contracture of the hand	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	limited cutaneous systemic sclerosis
Mondo ID	MONDO:0016358
MeSH	D045745
Orphanet	220402
DOID	DOID:1577
SNOMED CT	298285004, 299276009
UMLS	C0748540
MedGen	148187
GARD	0001053
Is cancer (heuristic)	no

Also known as: limited cutaneous systemic scleroderma · limited scleroderma

Disease family

This is a subtype of systemic sclerosis. 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 › integumentary system disorder › skin disorder › systemic sclerosis › limited cutaneous systemic sclerosis

Subtypes (1): CREST 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

Drugs indicated for this disease

No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Mycophenolate Mofetil.

Clinical trials & evidence

Clinical trials

Clinical trials: 2.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	1
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04927390	PHASE2	UNKNOWN	Mycophenolate in Limited Cutaneous Systemic Sclerosis (MINIMISE-Pilot)
NCT01881529	Not specified	COMPLETED	A Non-Interventional Pilot Study Assessing Whether Lysyl Oxidase-like 2 (LOXL2) is Present in Subjects With Scleroderma

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
MYCOPHENOLATE MOFETIL	4	1

Drugs: Mycophenolate Mofetil