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Recessive dystrophic epidermolysis bullosa-generalized other
1 associated gene
34 connected diseases
30 signs/symptoms
Disease Type of connection
Acral dystrophic epidermolysis bullosa
Centripetalis recessive dystrophic epidermolysis bullosa
Dystrophic epidermolysis bullosa pruriginosa
Dystrophic epidermolysis bullosa, nails only
Epidermolysis bullosa simplex superficialis
Generalized dominant dystrophic epidermolysis bullosa
Pretibial dystrophic epidermolysis bullosa
Recessive dystrophic epidermolysis bullosa inversa
Severe generalized recessive dystrophic epidermolysis bullosa
Transient bullous dermolysis of the newborn
Generalized junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa, Herlitz type
Osteogenesis imperfecta type 3
Fibronectin glomerulopathy
Hypoplastic amelogenesis imperfecta
Junctional epidermolysis bullosa inversa
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
Caffey disease
Dermatofibrosarcoma protuberans
Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 7A
Ehlers-Danlos syndrome, vascular-like type
Ehlers-Danlos / osteogenesis imperfecta syndrome
Familial porencephaly
Familial vascular leukoencephalopathy
High bone mass osteogenesis imperfecta
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 4
Schizencephaly
Walker-Warburg syndrome
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Synonym(s):
- Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis
- Autosomal recessive dystrophic epidermolysis bullosa, generalized other
- Generalized mitis RDEB
- RDEB generalisata mitis
- RDEB, non-Hallopeau-Siemens type
- RDEB-O
- RDEB-generalized other
- Recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
COL7A1 Q02388120120
Very frequent
- Abnormal fingernails
- Abnormal scarring / cheloids / hypertrophic scars
- Abnormal toenails
- Autosomal recessive inheritance
- Follicular / erythematous / edematous papules / milium
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Ankyloglossia / lingual synechiae
- Anus / rectum anomalies
- Constipation
- Enanthema / aphtosa / aphta / leukoplakia
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Microstomia / little mouth
- Multiple caries
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Tracheo-esophageal fistula / esophageal atresia / stenosis

Occasional
- Alopecia
- Anaemia
- Anomalies of eyelids, eyelashes and lacrimal system
- Corneal ulceration / perforation
- Cryptophthalmia / ankyloblepharon / synblepharon
- Ectropion / entropion / eyelid eversion
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hair and scalp anomalies
- Late puberty / hypogonadism / hypogenitalism
- Musculo-tendinous retractions
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Skin hypoplasia / aplasia / atrophy
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Visual loss / blindness / amblyopia