MCID: CNT086
MIFTS: 14

Centripetalis Recessive Dystrophic Epidermolysis Bullosa

Categories: Skin diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Centripetalis Recessive Dystrophic Epidermolysis Bullosa

MalaCards integrated aliases for Centripetalis Recessive Dystrophic Epidermolysis Bullosa:

Name: Centripetalis Recessive Dystrophic Epidermolysis Bullosa 59
Centripetal Recessive Dystrophic Epidermolysis Bullosa 59
Centripetal Dystrophic Epidermolysis Bullosa 59
Rdeb, Centripetalis 59
Rdeb-Ce 59

Characteristics:

Orphanet epidemiological data:

59
centripetalis recessive dystrophic epidermolysis bullosa
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA89841
ICD10 via Orphanet 34 Q81.2

Summaries for Centripetalis Recessive Dystrophic Epidermolysis Bullosa

MalaCards based summary : Centripetalis Recessive Dystrophic Epidermolysis Bullosa, is also known as centripetal recessive dystrophic epidermolysis bullosa. An important gene associated with Centripetalis Recessive Dystrophic Epidermolysis Bullosa is COL7A1 (Collagen Type VII Alpha 1 Chain). Affiliated tissues include skin, and related phenotypes are fragile skin and milia

Related Diseases for Centripetalis Recessive Dystrophic Epidermolysis Bullosa

Symptoms & Phenotypes for Centripetalis Recessive Dystrophic Epidermolysis Bullosa

Human phenotypes related to Centripetalis Recessive Dystrophic Epidermolysis Bullosa:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fragile skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0001030
2 milia 59 32 frequent (33%) Frequent (79-30%) HP:0001056
3 atrophic scars 59 32 frequent (33%) Frequent (79-30%) HP:0001075
4 nail dystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008404
5 skin vesicle 59 32 hallmark (90%) Very frequent (99-80%) HP:0200037

Drugs & Therapeutics for Centripetalis Recessive Dystrophic Epidermolysis Bullosa

Search Clinical Trials , NIH Clinical Center for Centripetalis Recessive Dystrophic Epidermolysis Bullosa

Genetic Tests for Centripetalis Recessive Dystrophic Epidermolysis Bullosa

Anatomical Context for Centripetalis Recessive Dystrophic Epidermolysis Bullosa

MalaCards organs/tissues related to Centripetalis Recessive Dystrophic Epidermolysis Bullosa:

41
Skin

Publications for Centripetalis Recessive Dystrophic Epidermolysis Bullosa

Variations for Centripetalis Recessive Dystrophic Epidermolysis Bullosa

Expression for Centripetalis Recessive Dystrophic Epidermolysis Bullosa

Search GEO for disease gene expression data for Centripetalis Recessive Dystrophic Epidermolysis Bullosa.

Pathways for Centripetalis Recessive Dystrophic Epidermolysis Bullosa

GO Terms for Centripetalis Recessive Dystrophic Epidermolysis Bullosa

Sources for Centripetalis Recessive Dystrophic Epidermolysis Bullosa

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7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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