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2 OMIM references -
2 associated genes
No signs/symptoms info
COMMON GENES: 1
PROTEIN INTERACTIONS: 3
1 OMIM reference -
2 associated genes
6 signs/symptoms
Osteogenesis imperfecta type 1
Dermatofibrosarcoma protuberans

COL1A1 COL1A1
COL1A2 PDGFB


COMMON
GENES
COL1A1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL1A1
COL1A2
COL1A2
(0.81)
(0.68)
(0.62)
PDGFB
PDGFB
COL1A1



Citations in the biomedical literature:


Osteogenesis imperfecta type 1
COL1A1 COL1A2
Dermatofibrosarcoma protuberans
PDGFB



Osteogenesis imperfecta type 1
Dermatofibrosarcoma protuberans

Synonym(s):
- Adair-Dighton syndrome
- Mild osteogenesis imperfecta
- Non-deforming osteogenesis imperfecta
- OI type 1
- Van der Hoeve syndrome

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: unknown
Average age onset: childhood
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:
2 OMIM references -
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



Osteogenesis imperfecta type 1

(no data available)