Details of Disease

General Information of Disease (ID: DISD5EYR)

Disease Name Epidermolysis bullosa simplex 7, with nephropathy and deafness
Synonyms
nephropathy with pretibial epidermolysis bullosa and deafness; nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome; nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome; epidermolysis bullosa simplex 7, with nephropathy and deafness
Disease Hierarchy
DIS2CZ6X: Epidermolysis bullosa simplex
DISD5EYR: Epidermolysis bullosa simplex 7, with nephropathy and deafness
Disease Identifiers
MONDO ID
MONDO_0012190
MESH ID
C563798
UMLS CUI
C1836823
OMIM ID
609057
MedGen ID
323004
Orphanet ID
300333

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CD151 OTF3UZS7 Strong Autosomal recessive [1]
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References

1 CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin. Blood. 2004 Oct 15;104(8):2217-23. doi: 10.1182/blood-2004-04-1512. Epub 2004 Jul 20.