NPEBD
MCID: NPH014
MIFTS: 20

Nephropathy with Pretibial Epidermolysis Bullosa and Deafness (NPEBD)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

MalaCards integrated aliases for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness:

Name: Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 56 73 36 29 13 6 39
Nephrotic Syndrome-Hearing Loss-Pretibial Epidermolysis Bullosa Syndrome 58
Nephrotic Syndrome-Deafness-Pretibial Epidermolysis Bullosa Syndrome 58
Npebd 73

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:

Orphanet: 58  
Rare renal diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 609057
KEGG 36 H00928
UMLS via Orphanet 72 C1836823
Orphanet 58 ORPHA300333
MedGen 41 C1836823

Summaries for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

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 skin and kidney, and related phenotypes are sensorineural hearing impairment and nephropathy

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

Related Diseases for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

Symptoms & Phenotypes for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

Human phenotypes related to Nephropathy with Pretibial Epidermolysis Bullosa and Deafness:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 nephropathy 31 HP:0000112
3 nail dystrophy 31 HP:0008404
4 stage 5 chronic kidney disease 31 HP:0003774
5 nephritis 31 HP:0000123
6 lacrimal duct stenosis 31 HP:0007678
7 pretibial blistering 31 HP:0012221
8 reduced beta/alpha synthesis ratio 31 HP:0011906

Clinical features from OMIM:

609057

Drugs & Therapeutics for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

Search Clinical Trials , NIH Clinical Center for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

Genetic Tests for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

Genetic tests related to Nephropathy with Pretibial Epidermolysis Bullosa and Deafness:

# Genetic test Affiliating Genes
1 Nephropathy with Pretibial Epidermolysis Bullosa and Deafness 29 CD151

Anatomical Context for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

MalaCards organs/tissues related to Nephropathy with Pretibial Epidermolysis Bullosa and Deafness:

40
Skin, Kidney

Publications for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

Articles related to Nephropathy with Pretibial Epidermolysis Bullosa and Deafness:

# Title Authors PMID Year
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. 56 6
15265795 2004
2
Occurrence of hereditary nephritis, pretibial epidermolysis bullosa and beta-thalassemia minor in two siblings with end-stage renal disease. 56
3412548 1988

Variations for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

ClinVar genetic disease variations for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CD151 NM_004357.5(CD151):c.382dup (p.Asp128fs)duplication Pathogenic 7380 rs1565118389 11:837278-837279 11:837278-837279

Expression for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

Search GEO for disease gene expression data for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness.

Pathways for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

GO Terms for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

Sources for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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