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1 OMIM reference -
2 associated genes
6 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Dermatofibrosarcoma protuberans
Reis-Bücklers corneal dystrophy

COL1A1 TGFBI
PDGFB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL1A1
(0.63)
TGFBI



Citations in the biomedical literature:


Dermatofibrosarcoma protuberans
COL1A1 PDGFB
Reis-Bücklers corneal dystrophy
TGFBI



Dermatofibrosarcoma protuberans
Reis-Bücklers corneal dystrophy

Synonym(s):
- DFSP

Synonym(s):
- Anterior limiting membrane dystrophy type I
- Atypical granular corneal dystrophy
- Corneal dystrophy of Bowman layer type I
- Geographic corneal dystrophy
- Granular corneal dystrophy type III
- RBCD
- Superficial granular corneal dystrophy

Classification (Orphanet):
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the eye and adnexa -

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

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

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



Reis-Bücklers corneal dystrophy

(no data available)