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1 OMIM reference -
1 associated gene
7 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
No signs/symptoms info
Ehlers-Danlos syndrome type 7A
Nodulosis-arthropathy-osteolysis syndrome

COL1A1 MMP14
MMP2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL1A1
(0.85)
MMP2



Citations in the biomedical literature:


Ehlers-Danlos syndrome type 7A
COL1A1
Nodulosis-arthropathy-osteolysis syndrome
MMP14 MMP2



Ehlers-Danlos syndrome type 7A
Nodulosis-arthropathy-osteolysis syndrome

Synonym(s):
- EDS VIIA

Synonym(s):
- Multicentric osteolysis - nodulosis - arthropathy
- NAO syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin 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):
- Diseases of the musculoskeletal system and connective tissue -

Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

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

Ehlers-Danlos syndrome type 7A

Very frequent
- Abnormal scarring / cheloids / hypertrophic scars
- Autosomal dominant inheritance
- Hyperelastic skin / cutaneous hyperlaxity
- Hyperextensible joints / articular hyperlaxity
- Muscle weakness / flaccidity
- Short stature / dwarfism / nanism
- Thin skin



Nodulosis-arthropathy-osteolysis syndrome

(no data available)