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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
2 associated genes
6 signs/symptoms
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Dermatofibrosarcoma protuberans

COL2A1 COL1A1
PDGFB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL2A1
(0.68)
PDGFB



Citations in the biomedical literature:


Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
COL2A1
Dermatofibrosarcoma protuberans
COL1A1 PDGFB



Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Dermatofibrosarcoma protuberans

Synonym(s):
(no synonyms)

Synonym(s):
- DFSP

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: adult
Type of inheritance: sporadic

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C538219

Dermatofibrosarcoma protuberans

Very frequent
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Thick skin / pachydermia / orange skin

Frequent
- Chronic skin infection / ulcerations / ulcers / cancrum



Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

(no data available)