ODCs

Click node...

Acral dystrophic epidermolysis bullosa

1 associated gene
34 connected diseases
6 signs/symptoms

Disease	Type of connection
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
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): - DEB, acral - DEB-ac

Classification (Orphanet): - 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 dominant		External references: No OMIM references No MeSH references

Gene symbol	UniProt reference	OMIM reference
COL7A1	Q02388	120120

Very frequent

- Autosomal dominant inheritance
- Autosomal recessive inheritance
- Follicular / erythematous / edematous papules / milium
- Nails anomalies
- Skin hypoplasia / aplasia / atrophy
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment