Undifferentiated connective tissue syndrome

Summary

Undifferentiated connective tissue syndrome (MONDO:0019527) is a disease and 8 clinical trials. Top therapeutic interventions include hydroxychloroquine. A subtype of autoimmune disease — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Phenotypes (HPO): 3
• Clinical trials: 8

Clinical features

Signs & symptoms

Clinical features (HPO)

3 HPO clinical features (Orphanet curated; top 3 by frequency):

HPO ID	Term	Frequency
HP:0020151	Anti-dsDNA antibody positivity	Frequent (30-79%)
HP:0034076	Anti-ribosome Po antibody positivity	Frequent (30-79%)
HP:0034093	Anti-Ro52/TRIM21 antibody positivity	Frequent (30-79%)

Identifiers

Disease identifiers

Field	Value
Canonical name	undifferentiated connective tissue syndrome
Mondo ID	MONDO:0019527
Orphanet	90002
NCIT	C116776
SNOMED CT	239918008
UMLS	C0409999
MedGen	592754
GARD	0019097
MedDRA	10071575
Is cancer (heuristic)	no

Also known as: UCTD · undifferentiated connective tissue disease

Disease family

This is a subtype of autoimmune disease. 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 › autoimmune disease › undifferentiated connective tissue syndrome

Related subtypes (46): autoimmune disease, multisystem, infantile-onset, autoimmune disorder of endocrine system, autoimmune disorder of exocrine system, autoimmune disease of ear, nose and throat, autoimmune disorder of gastrointestinal tract, autoimmune disorder of musculoskeletal system, autoimmune disorder of blood, autoimmune disorder of cardiovascular system, phacolytic glaucoma, Jaccoud syndrome, autoimmune disorder of the nervous system, lupus erythematosus, anti-neutrophil antibody associated vasculitis, cryoglobulinemia, CNS demyelinating autoimmune disease, type III hypersensitivity disease, vitiligo, anti-glomerular basement membrane disease, autoimmune pulmonary alveolar proteinosis, Reynolds syndrome, overlapping connective tissue disease, tempi syndrome, immunoglobulin G4-related sclerosing disease, rheumatic fever, autoerythrocyte sensitization syndrome, autoimmune lymphoproliferative syndrome, secondary neonatal autoimmune disease, euthyroid Graves orbitopathy, Kimura disease, autoimmune thrombocytopenia, autoimmune bullous skin disease, scleroderma, Susac syndrome, type II hypersensitivity reaction disease, autoimmune urticaria, autoimmune glomerulonephritis, multisystem autoimmune disease due to IKAROS gain of function, autoimmune pulmonary disease due to PD-1 deficiency, non-specific autoimmune supratentorial encephalitis with characteristic antibodies, non-specific autoimmune supratentorial encephalitis without characteristic antibodies, non-specific autoimmune brainstem encephalitis with characteristic antibodies, non-specific autoimmune brainstem encephalitis without characteristic antibodies, non-specific autoimmune cerebellar ataxia with characteristic antibodies, non-specific autoimmune cerebellar ataxia without characteristic antibodies, autoimmune disease with susceptibility to mycobacterium tuberculosis, antiphospholipid 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: 8.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	7
PHASE2/PHASE3	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05236491	PHASE2/PHASE3	UNKNOWN	COvid-19 Vaccine Booster in Immunocompromised Rheumatic Diseases
NCT02234388	Not specified	RECRUITING	Undifferentiated Connective Tissue Disease Registry
NCT04402086	Not specified	RECRUITING	Rheumatology Patient Registry and Biorepository
NCT05715463	Not specified	ACTIVE_NOT_RECRUITING	Rheumatology-based Adaptive Intervention for Social Determinants and Health Equity
NCT06399822	Not specified	RECRUITING	Impact of Capillaroscopy on the Management of Undifferentiated Connective Tissue Disease
NCT02298777	Not specified	TERMINATED	Metabolomic Analysis of Systemic Sclerosis
NCT03671174	Not specified	UNKNOWN	Immunosuppressant Regimens for Living Fetuses Study
NCT03840928	Not specified	UNKNOWN	PatientSpot Formerly Known as ArthritisPower

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
HYDROXYCHLOROQUINE	4	1