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Recessive dystrophic epidermolysis bullosa inversa
1 OMIM reference -
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-generalized other
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):
- Dystrophic epidermolysis bullosa inversa
- Inverse RDEB
- Inverse recessive dystrophic epidermolysis bullosa
- RDEB-I
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
COL7A1 Q02388120120
Very frequent
- Abnormal scarring / cheloids / hypertrophic scars
- Ankyloglossia / lingual synechiae
- Autosomal recessive inheritance
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- Follicular / erythematous / edematous papules / milium
- Oral mucosa disease / cheilitis
- Skin hypoplasia / aplasia / atrophy
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Abnormal toenails
- Anaemia
- Corneal ulceration / perforation
- External auditory canal atresia / stenosis / agenesis
- Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia
- Functional anomalies of the genital system
- Hearing loss / hypoacusia / deafness
- Joint / articular deformation
- Microstomia / little mouth
- Tracheo-esophageal fistula / esophageal atresia / stenosis
- Vagina anomalies / atresia / hydrometrocolpos / hymen imperforation

Occasional
- Anus / rectum anomalies
- Cardiomyopathy / hypertrophic / dilated
- Cataract / lens opacification
- Chronic skin infection / ulcerations / ulcers / cancrum
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Constipation
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Renal disease / nephropathy
- Renal failure
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)
- Weight loss / loss of appetite / break in weight curve / general health alteration