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1 OMIM reference -
1 associated gene
19 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
2 associated genes
6 signs/symptoms
Acrogeria
Dermatofibrosarcoma protuberans

COL3A1 COL1A1
PDGFB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL3A1
(0.68)
PDGFB



Citations in the biomedical literature:


Acrogeria
COL3A1
Dermatofibrosarcoma protuberans
COL1A1 PDGFB



Acrogeria
Dermatofibrosarcoma protuberans

Synonym(s):
- Acrogeria, Gottron type
- Acrometageria
- Gottron syndrome

Synonym(s):
- DFSP

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

Classification (ICD10):
(no data available)
Classification (ICD10):
(no data available)

Epidemiological data:
(no data available)
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 -
1 MeSH reference: C538187
External references:
1 OMIM reference -
1 MeSH reference: C538219


COMMON
SIGNS
- Chronic skin infection / ulcerations / ulcers / cancrum


Acrogeria
Dermatofibrosarcoma protuberans

Very frequent
- Anomalies of skin, subcutaneous tissue and mucosae
- Fine hair
- Hyperextensible joints / articular hyperlaxity
- Irregular / in bands / reticular skin hyperpigmentation
- Lipoatrophy
- Premature ageing
- Short stature / dwarfism / nanism
- Skin hypoplasia / aplasia / atrophy
- Thin skin

Frequent
- Beaked nose
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Micrognathia / retrognathia / micrognathism / retrognathism
- Rippled skin
- Scoliosis
- Small foot
- Small hand / acromicria
- Telangiectasiae of the skin

Occasional
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia


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