multiple epiphyseal dysplasia type 1
Findings
No curated finding names multiple epiphyseal dysplasia type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.
Definition from the Mondo Disease Ontology (MONDO:0007561), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
25 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Ankle painHPOHP:0030840
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Delayed epiphyseal ossificationHPOHP:0002663
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- Epiphyseal dysplasiaHPOHP:0002656
- 1 of 1 reported patient
- Irregular epiphysesHPOHP:0010582
- 1 of 1 reported patient
- Limited hip movementHPOHP:0008800
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- COMPHGNC:2227
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: multiple epiphyseal dysplasia type 1
- Also called
- COMP multiple epiphyseal dysplasia (disease)EDM1epiphyseal dysplasia, multiple, type 1MED1multiple epiphyseal dysplasia (disease) caused by mutation in COMPPolyepiphyseal dysplasia type 1