NPEBD
MCID: NPH014
MIFTS: 16

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 58 76 38 30 13 6 41
Nephrotic Syndrome-Hearing Loss-Pretibial Epidermolysis Bullosa Syndrome 60
Nephrotic Syndrome-Deafness-Pretibial Epidermolysis Bullosa Syndrome 60
Npebd 76

Characteristics:

Orphanet epidemiological data:

60
nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

HPO:

33
nephropathy with pretibial epidermolysis bullosa and deafness:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 609057
KEGG 38 H00928
UMLS via Orphanet 75 C1836823
Orphanet 60 ORPHA300333
MedGen 43 C1836823

Summaries for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

UniProtKB/Swiss-Prot : 76 Nephropathy with pretibial epidermolysis bullosa and deafness: A disorder characterized by the association of hereditary nephritis, epidermolysis bullosa, deafness, and beta-thalassemia minor.

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 nephropathy

Description 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:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 33 HP:0000407
2 nephropathy 33 HP:0000112
3 nail dystrophy 33 HP:0008404
4 stage 5 chronic kidney disease 33 HP:0003774
5 nephritis 33 HP:0000123
6 lacrimal duct stenosis 33 HP:0007678
7 pretibial blistering 33 HP:0012221
8 reduced beta/alpha synthesis ratio 33 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 30 CD151

Anatomical Context for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

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

42
Kidney, Skin

Publications for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

Articles related to Nephropathy with Pretibial Epidermolysis Bullosa and Deafness:

# Title Authors 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. ( 15265795 )
2004

Variations for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CD151 NM_004357.4(CD151): c.382dup (p.Asp128Glyfs) duplication Pathogenic GRCh38 Chromosome 11, 837280: 837280
2 CD151 NM_004357.4(CD151): c.382dup (p.Asp128Glyfs) duplication Pathogenic GRCh37 Chromosome 11, 837280: 837280

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
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
51 NCIt
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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