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 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:

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

See all MalaCards categories (disease lists)

Orphanet: ⁶⁰

Rare renal diseases

Rare otorhinolaryngological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁸ 609057

KEGG ³⁸ H00928

MeSH ⁴⁵ D003638 D007674 D016108

UMLS via Orphanet ⁷⁵ C1836823

Orphanet ⁶⁰ ORPHA300333

MedGen ⁴³ C1836823

SNOMED-CT via HPO ⁷⁰ 231841004 258211005 433146000 more

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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

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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:

³³ (show all 8)

#	Description	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

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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 ³⁰	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:

⁴²

Kidney, Skin

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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	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 )	Karamatic Crew V...Anstee DJ	2004

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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	1368.72	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Genetic Tests ³⁰ GeneCards inferred via : Disorders (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	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

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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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⁷² TGDB

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⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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