NPEBD
MCID: NPH014
MIFTS: 22

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 57 72 36 29 13 6 39
Nephrotic Syndrome-Epidermolysis Bullosa-Sensorineural Deafness Syndrome 58
Nephrotic Syndrome-Hearing Loss-Epidermolysis Bullosa Syndrome 58
Epidermolysis Bullosa Simplex with Nephropathy 58
Ebs with Nephropathy 58
Npebd 72

Characteristics:

Orphanet epidemiological data:

58
nephrotic syndrome-epidermolysis bullosa-sensorineural deafness 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
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 609057
KEGG 36 H00928
UMLS via Orphanet 71 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-epidermolysis bullosa-sensorineural deafness 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 : 72 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 7)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 nail dystrophy 31 HP:0008404
3 stage 5 chronic kidney disease 31 HP:0003774
4 lacrimal duct stenosis 31 HP:0007678
5 pretibial blistering 31 HP:0012221
6 nephritis 31 HP:0000123
7 reduced beta/alpha synthesis ratio 31 HP:0011906

Clinical features from OMIM®:

609057 (Updated 20-May-2021)

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
Kidney, Skin

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. 57 6
15265795 2004
2
Occurrence of hereditary nephritis, pretibial epidermolysis bullosa and beta-thalassemia minor in two siblings with end-stage renal disease. 57
3412548 1988
3
An update on the RAPH blood group system. 61
32667818 2020

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 Position
1 CD151 NM_004357.5(CD151):c.382dup (p.Asp128fs) Duplication Pathogenic 7380 rs1565118389 GRCh37: 11:837278-837279
GRCh38: 11:837278-837279
2 CD151 NM_004357.5(CD151):c.19A>T (p.Lys7Ter) SNV Pathogenic 982373 GRCh37: 11:836088-836088
GRCh38: 11:836088-836088
3 CD151 NM_004357.5(CD151):c.493C>T (p.Arg165Ter) SNV Pathogenic 1028736 GRCh37: 11:837496-837496
GRCh38: 11:837496-837496
4 CD151 NM_004357.5(CD151):c.511C>T (p.Arg171Cys) SNV Uncertain significance 1028737 GRCh37: 11:837514-837514
GRCh38: 11:837514-837514

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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