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NPEBD
MCID: NPH014
MIFTS: 21
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Nephropathy with Pretibial Epidermolysis Bullosa and Deafness (NPEBD)
Categories:
Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness:
Characteristics:Orphanet epidemiological data:58
nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); HPO:31
nephropathy with pretibial epidermolysis bullosa and deafness:
Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Nephrological diseases Ear diseases Skin diseases
Orphanet: 58
Rare renal diseases
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis |
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KEGG :
36
Nephropathy with pretibial epidermolysis bullosa and deafness is a hereditary nephritis. Patients also have pretibial bullous skin lesions and neurosensory deafness. Nonsense mutations in CD151, an essential protein for the proper assembly of the basement membrane, lead to complete separation of the epidermis from the dermis.
MalaCards based summary : Nephropathy with Pretibial Epidermolysis Bullosa and Deafness, is also known as nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome. An important gene associated with Nephropathy with Pretibial Epidermolysis Bullosa and Deafness is CD151 (CD151 Molecule (Raph Blood Group)). Affiliated tissues include kidney and skin, and related phenotypes are sensorineural hearing impairment and nail dystrophy UniProtKB/Swiss-Prot : 73 Nephropathy with pretibial epidermolysis bullosa and deafness: A disorder characterized by the association of hereditary nephritis, epidermolysis bullosa, deafness, and beta-thalassemia minor.
More information from OMIM:
609057
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Human phenotypes related to Nephropathy with Pretibial Epidermolysis Bullosa and Deafness:31 (show all 7)
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MalaCards organs/tissues related to Nephropathy with Pretibial Epidermolysis Bullosa and Deafness:40
Kidney,
Skin
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Articles related to Nephropathy with Pretibial Epidermolysis Bullosa and Deafness:
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Genes related to Nephropathy with Pretibial Epidermolysis Bullosa and Deafness (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness:6
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Search
GEO
for disease gene expression data for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness.
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