NPEBD
MCID: NPH014
MIFTS: 19

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 75 37 29 13 6 40
Nephrotic Syndrome-Hearing Loss-Pretibial Epidermolysis Bullosa Syndrome 59
Nephrotic Syndrome-Deafness-Pretibial Epidermolysis Bullosa Syndrome 59
Npebd 75

Characteristics:

Orphanet epidemiological data:

59
nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

HPO:

32
nephropathy with pretibial epidermolysis bullosa and deafness:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 609057
Orphanet 59 ORPHA300333
UMLS via Orphanet 74 C1836823
MedGen 42 C1836823
KEGG 37 H00928

Summaries for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

UniProtKB/Swiss-Prot : 75 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 skin and kidney, 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

Clinical features from OMIM:

609057

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

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 nephropathy 32 HP:0000112
3 nail dystrophy 32 HP:0008404
4 stage 5 chronic kidney disease 32 HP:0003774
5 nephritis 32 HP:0000123
6 lacrimal duct stenosis 32 HP:0007678
7 pretibial blistering 32 HP:0012221
8 reduced beta/alpha synthesis ratio 32 HP:0011906

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:

41
Skin, Kidney

Publications for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

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: c.382dupG duplication Pathogenic

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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