Nephropathy with Pretibial Epidermolysis Bullosa and Deafness disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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 ⁷⁴ ³⁷ ²⁹ ¹³ ⁶ ⁴⁰

Nephrotic Syndrome-Hearing Loss-Pretibial Epidermolysis Bullosa Syndrome ⁵⁹

Nephrotic Syndrome-Deafness-Pretibial Epidermolysis Bullosa Syndrome ⁵⁹

Npebd ⁷⁴

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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Nephrological diseases Ear diseases Skin diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁹

Rare renal diseases

Rare otorhinolaryngological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 609057

KEGG ³⁷ H00928

MeSH ⁴⁴ D003638 D007674 D016108

UMLS via Orphanet ⁷³ C1836823

Orphanet ⁵⁹ ORPHA300333

MedGen ⁴² C1836823

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Summaries for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

KEGG : ³⁷

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 : ⁷⁴ 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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Related Diseases for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

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Symptoms & Phenotypes for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

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

³² (show all 8)

#	Description	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

Clinical features from OMIM:

609057

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Drugs & Therapeutics for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

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

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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

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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

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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. ⁸ ⁷¹	Karamatic Crew V...Anstee DJ	15265795	2004
2	Occurrence of hereditary nephritis, pretibial epidermolysis bullosa and beta-thalassemia minor in two siblings with end-stage renal disease. ⁸	Kagan A...Bar-Khayim Y	3412548	1988

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Genes for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

Genes related to Nephropathy with Pretibial Epidermolysis Bullosa and Deafness (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CD151	CD151 Molecule (Raph Blood Group)	Protein Coding	1378.31	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	15265795

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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	GRCh37 Pos	GRCh38 Pos
1	CD151	NM_004357.5(CD151): c.382dup (p.Asp128fs)	duplication	Pathogenic		11:837280-837280	11:837280-837280

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Expression for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

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

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Pathways for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

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GO Terms for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

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⁷⁵ Wikipedia

Nephropathy with Pretibial Epidermolysis Bullosa and Deafness (NPEBD)

Aliases & Classifications for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

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

Characteristics:

Orphanet epidemiological data:

HPO:

Classifications:

External Ids:

Summaries for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

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:

Clinical features from OMIM:

Drugs & Therapeutics 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:

Anatomical Context for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

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

Publications for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

Articles related to Nephropathy with Pretibial Epidermolysis Bullosa and Deafness:

Genes for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

Genes related to Nephropathy with Pretibial Epidermolysis Bullosa and Deafness (1 elite genes):

Variations for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

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

Expression 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