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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
10 signs/symptoms
Ehlers-Danlos syndrome, cardiac valvular type
Metaphyseal anadysplasia

COL1A2 MMP13
MMP9


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL1A2
(0.52)
MMP9



Citations in the biomedical literature:


Ehlers-Danlos syndrome, cardiac valvular type
COL1A2
Metaphyseal anadysplasia
MMP13 MMP9



Ehlers-Danlos syndrome, cardiac valvular type
Metaphyseal anadysplasia

Synonym(s):
- EDS, cardiac valvular type

Synonym(s):
- Maroteaux-Verloes-Stanescu syndrome
- Regressive metaphyseal dysplasia

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
- Rare surgical cardiac disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: C537351

Metaphyseal anadysplasia

Very frequent
- Bowed diaphysis / diaphyses / long bones
- Epiphyseal anomaly
- Lower limb segmental anomalies
- Metaphyseal anomaly
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Restricted joint mobility / joint stiffness / ankylosis
- Rhizomelic micromelia
- Short stature / dwarfism / nanism
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray
- X-linked recessive inheritance



Ehlers-Danlos syndrome, cardiac valvular type

(no data available)