Centripetalis recessive dystrophic epidermolysis bullosa

General Information (adopted from Orphanet):

Synonyms, Signs: RDEB-Ce
RDEB, centripetalis
Centripetal recessive dystrophic epidermolysis bullosa
Centripetal dystrophic epidermolysis bullosa
Number of Symptoms 2
OrphanetNr: 89841
OMIM Id:
ICD-10: Q81.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Dystrophic epidermolysis bullosa
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
(HPO:0200037) Skin vesicle Very frequent [Orphanet] 102 / 7739
2
(HPO:0030350) Erythematous papule Frequent [Orphanet] 123 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: