Joint laxity, familial

Summary

Joint laxity, familial (MONDO:0007842) is a disease and 1 clinical trial. A subtype of Ehlers-Danlos syndrome — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide)
• Phenotypes (HPO): 8
• Clinical trials: 1

Clinical features

Signs & symptoms

Clinical features (HPO)

8 HPO clinical features (Orphanet curated; top 8 by frequency):

HPO ID	Term	Frequency
HP:0001382	Joint hypermobility	Very frequent (80-99%)
HP:0001374	Congenital hip dislocation	Very frequent (80-99%)
HP:0002999	Patellar dislocation	Very frequent (80-99%)
HP:0002815	Abnormality of the knee	Frequent (30-79%)
HP:0000023	Inguinal hernia	Occasional (5-29%)
HP:0002823	Abnormality of femur morphology	Occasional (5-29%)
HP:0003834	Shoulder dislocation	Occasional (5-29%)
HP:0009811	Abnormality of the elbow	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	joint laxity, familial
Mondo ID	MONDO:0007842
MeSH	C535884
OMIM	147900
Orphanet	2295
SNOMED CT	71322004
UMLS	C0268349
MedGen	120629
GARD	0003054
Is cancer (heuristic)	no

Also known as: EDS 11 (formerly) · EDS XI · EDS11 · Ehlers-Danlos syndrome type 11, formerly · Ehlers-Danlos syndrome, type 11 (formerly) · familial joint instability syndrome · familial joint laxity · Joint instability syndrome · joint laxity, familial

Disease family

This is a subtype of Ehlers-Danlos 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 › syndromic disease › Ehlers-Danlos syndrome › joint laxity, familial

Related subtypes (24): Ehlers-Danlos syndrome, classic type, Ehlers-Danlos syndrome, hypermobility type, Ehlers-Danlos syndrome, arthrochalasia type, Ehlers-Danlos syndrome, spondylodysplastic type, Ehlers-Danlos syndrome, periodontitis type, Ehlers-Danlos syndrome, autosomal dominant, type unspecified, Ehlers-Danlos syndrome, fibronectinemic type, Ehlers-Danlos syndrome, dermatosparaxis type, brittle cornea syndrome, X-linked Ehlers-Danlos syndrome, Ehlers-Danlos syndrome, musculocontractural type, Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome, Beasley-Cohen type, Ehlers-Danlos syndrome, kyphoscoliotic type, 2, Ehlers-Danlos syndrome, kyphoscoliotic type 1, Ehlers-Danlos syndrome, vascular-like type, Ehlers-Danlos/osteogenesis imperfecta syndrome, Ehlers-Danlos syndrome, vascular type, spondylodysplastic Ehlers-Danlos syndrome, Bethlem myopathy 2, Ehlers-Danlos syndrome, classic-like, 2, COL1A1-related Ehlers-Danlos syndrome, COL1A2-related Ehlers-Danlos syndrome, Ehlers-Danlos syndrome, classic-like, 3

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: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02725333	Not specified	COMPLETED	Does Shoulder Stabilizations Stabilize Shoulders?