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Acrogeria
1 OMIM reference -
1 associated gene
15 connected diseases
19 signs/symptoms
Disease Type of connection
Ehlers-Danlos syndrome, vascular type
Familial abdominal aortic aneurysm
Familial cerebral saccular aneurysm
Bilateral striopallidodentate calcinosis
Dermatofibrosarcoma protuberans
Familial multiple meningioma
CARASIL
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Congenital glaucoma
Juvenile glaucoma
Spondylocarpotarsal synostosis
Spondyloepimetaphyseal dysplasia - short limb - abnormal calcification
Synonym(s):
- Acrogeria, Gottron type
- Acrometageria
- Gottron syndrome
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
(no data available)
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
1 MeSH reference: C538187
Gene symbol UniProt reference OMIM reference
COL3A1 P02461120180
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
- Chronic skin infection / ulcerations / ulcers / cancrum
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia