MCID: CNT086
MIFTS: 14

Centripetalis Recessive Dystrophic Epidermolysis Bullosa

Categories: Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Centripetalis Recessive Dystrophic Epidermolysis Bullosa

MalaCards integrated aliases for Centripetalis Recessive Dystrophic Epidermolysis Bullosa:

Name: Centripetalis Recessive Dystrophic Epidermolysis Bullosa 60
Centripetal Recessive Dystrophic Epidermolysis Bullosa 60
Centripetal Dystrophic Epidermolysis Bullosa 60
Rdeb, Centripetalis 60
Rdeb-Ce 60

Characteristics:

Orphanet epidemiological data:

60
centripetalis recessive dystrophic epidermolysis bullosa
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 35 Q81.2
Orphanet 60 ORPHA89841

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 skin vesicle and fragile skin

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:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skin vesicle 60 33 hallmark (90%) Very frequent (99-80%) HP:0200037
2 fragile skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0001030
3 nail dystrophy 60 33 frequent (33%) Frequent (79-30%) HP:0008404
4 milia 60 33 frequent (33%) Frequent (79-30%) HP:0001056
5 atrophic scars 60 33 frequent (33%) Frequent (79-30%) HP:0001075

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:

42
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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