MCID: BRT001
MIFTS: 37

Bart-Pumphrey Syndrome malady

Ear diseases, Skin diseases, Fetal diseases categories

Summaries for Bart-Pumphrey Syndrome

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21Genetics Home Reference, 46OMIM, 32MalaCards
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Genetics Home Reference:21 Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss.

MalaCards: Bart-Pumphrey Syndrome, also known as knuckle pads, leukonychia, and sensorineural deafness, is related to knuckle pads, leuconychia and sensorineural deafness and palmoplantar keratosis, and has symptoms including sensorineural deafness/hearing loss, hyperkeratosis/ainhum/hyperkeratotic skin fissures and subcutaneous nodules/lipomas/tumefaction/swelling. An important gene associated with Bart-Pumphrey Syndrome is GJB2 (gap junction protein, beta 2, 26kDa), and among its related pathways are Calcium Regulation in the Cardiac Cell and Membrane Trafficking. The compounds 10panx and scrambled 10panx have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotype hearing/vestibular/ear.

Description from OMIM:46 149200

Aliases & Classifications for Bart-Pumphrey Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Ear diseases, Skin diseases


Aliases & Descriptions:

bart-pumphrey syndrome 8 9 21 46 10 48
knuckle pads, leukonychia, and sensorineural deafness 8 21
knuckle pads-leuconychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome 48
knuckle pads-leuconychia-sensorineural deafness-palmoplantar keratoderma syndrome 48
knuckle pads, leuconychia and sensorineural deafness 60
knuckle pads, deafness, and leukonychia syndrome 21


External Ids:

Disease Ontology8 DOID:0050658
OMIM46 149200
ICD10 via Orphanet26 Q82.8

Related Diseases for Bart-Pumphrey Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Bart-Pumphrey Syndrome:



Diseases related to bart-pumphrey syndrome

Clinical Features for Bart-Pumphrey Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

149200

Clinical synopsis from OMIM:

149200

Symptoms:

48
  • sensorineural deafness/hearing loss
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • abnormal nails colour/leukonychia/melanonychia
  • autosomal dominant inheritance
  • palmoplantar hyperkeratosis/keratoderma

Drugs & Therapeutics for Bart-Pumphrey Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Bart-Pumphrey Syndrome

Drug clinical trials:

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Search NIH Clinical Center for Bart-Pumphrey Syndrome

Search CenterWatch for Bart-Pumphrey Syndrome

Genetic Tests for Bart-Pumphrey Syndrome

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Anatomical Context for Bart-Pumphrey Syndrome

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Sources:
32MalaCards
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MalaCards organs/tissues related to Bart-Pumphrey Syndrome:

32
Skin

Animal Models for Bart-Pumphrey Syndrome or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Bart-Pumphrey Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.1GJB2, GJB6

Publications for Bart-Pumphrey Syndrome

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Sources:
50PubMed
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Articles related to Bart-Pumphrey Syndrome:

idTitleAuthorsYear
1
A family of Bart-Pumphrey syndrome. (22421650)
2012
2
G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart- Pumphrey syndrome. (15952212)
2005
3
Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. (15482471)
2004
4
Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome. (8151643)
1994

Genetic Variations for Bart-Pumphrey Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Bart-Pumphrey Syndrome:

62
id Symbol AA change Variation ID SNP ID
1GJB2p.Asn54LysVAR_032750
2GJB2p.Gly59SerVAR_032751

Expression for genes affiliated with Bart-Pumphrey Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Bart-Pumphrey Syndrome

Search GEO for disease gene expression data for Bart-Pumphrey Syndrome.

Pathways for genes affiliated with Bart-Pumphrey Syndrome

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Sources:
37NCBI BioSystems Database, 53Reactome, 51QIAGEN
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Pathways related to Bart-Pumphrey Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1GJB2, GJB6
29.1GJB2, GJB6
39.1GJB2, GJB6
4
Hide members
9.1GJB2, GJB6

Compounds for genes affiliated with Bart-Pumphrey Syndrome

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Sources:
59Tocris Bioscience, 28IUPHAR, 24HMDB, 44Novoseek, 2BitterDB, 11DrugBank
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Compounds related to Bart-Pumphrey Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
110panx599.3GJB2, GJB6
2scrambled 10panx599.3GJB2, GJB6
3carbenoxolone disodium599.2GJB2, GJB6
4gap 27599.2GJB2, GJB6
5octanol28 2410.1GJB6, GJB2
6flufenamic acid44 28 2 1112.1GJB2, GJB6
7carbenoxolone28 44 1111.0GJB2, GJB6
8ca2+288.8GJB2, GJB6

GO Terms for genes affiliated with Bart-Pumphrey Syndrome

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Sources:
16Gene Ontology
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Cellular components related to Bart-Pumphrey Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1connexon complexGO:0059229.1GJB2, GJB6

Biological processes related to Bart-Pumphrey Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sensory perception of soundGO:0076059.1GJB2, GJB6

Products for genes affiliated with Bart-Pumphrey Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Bart-Pumphrey Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet