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 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:

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

Orphanet ⁵⁹ ORPHA300333

UMLS via Orphanet ⁷⁴ C1836823

MedGen ⁴² C1836823

MeSH ⁴⁴ D003638 D007674 D016108

KEGG ³⁷ H00928

SNOMED-CT via HPO ⁶⁹ 258211005 90708001 52845002 more

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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 kidney, and related phenotypes are nephropathy and nephritis

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

Clinical features from OMIM:

609057

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

³² (show all 8)

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

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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

Kidney

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Publications for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

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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	1368.8	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Genetic Tests ²⁹ 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	CD151, 1-BP INS, G383	insertion	Pathogenic

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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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Sources for Nephropathy with Pretibial Epidermolysis Bullosa and Deafness

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