MCID: BRT001
MIFTS: 36

Bart-Pumphrey Syndrome malady

Genetic diseases, Ear diseases, Skin diseases, Fetal diseases, Rare diseases categories

Summaries for Bart-Pumphrey Syndrome

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22Genetics Home Reference, 48OMIM, 34MalaCards
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Genetics Home Reference:22 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 ectodermal dysplasia, 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 Myometrial Relaxation and Contraction Pathways and Clathrin derived vesicle budding. The compounds scrambled 10panx and gap 27 have been mentioned in the context of this disorder. Affiliated tissues include skin, and related mouse phenotypes are no phenotypic analysis and hearing/vestibular/ear.

Description from OMIM:48 149200

Aliases & Classifications for Bart-Pumphrey Syndrome

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Sources:
9Disease Ontology, 10diseasecard, 22Genetics Home Reference, 48OMIM, 11DISEASES, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 64UMLS via Orphanet, 60SNOMED-CT via Orphanet
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Classifications:



Aliases & Descriptions:

bart-pumphrey syndrome 9 10 22 48 11 50
knuckle pads, leukonychia, and sensorineural deafness 9 22
knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome 50
knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome 50
knuckle pads, leuconychia and sensorineural deafness 63
knuckle pads, deafness, and leukonychia syndrome 22


External Ids:

Disease Ontology9 DOID:0050658
OMIM48 149200
ICD10 via Orphanet27 Q82.8
UMLS via Orphanet64 C0266004
SNOMED-CT via Orphanet60 1271009

Related Diseases for Bart-Pumphrey Syndrome

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Bart-Pumphrey Syndrome:



Diseases related to bart-pumphrey syndrome

Symptoms for Bart-Pumphrey Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

149200

Clinical features from OMIM:

149200

Symptoms:

50
  • 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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Bart-Pumphrey Syndrome

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Anatomical Context for Bart-Pumphrey Syndrome

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Sources:
34MalaCards
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MalaCards organs/tissues related to Bart-Pumphrey Syndrome:

34
Skin

Animal Models for Bart-Pumphrey Syndrome or affiliated genes

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Sources:
38MGI
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MGI Mouse Phenotypes related to Bart-Pumphrey Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.1GJB2, GJB6
2MP:00053778.8GJB2, GJB6

Publications for Bart-Pumphrey Syndrome

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53PubMed
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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

Variations for Bart-Pumphrey Syndrome

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Bart-Pumphrey Syndrome:

65
id Symbol AA change Variation ID SNP ID
1GJB2p.Asn54LysVAR_032750
2GJB2p.Gly59SerVAR_032751

Clinvar genetic disease variations for Bart-Pumphrey Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1GJB2NM_004004.5(GJB2): c.162C> A (p.Asn54Lys)single nucleotide variantPathogenicrs104894412GRCh37Chr 13, 20763559: 20763559
2GJB2NM_004004.5(GJB2): c.175G> A (p.Gly59Ser)single nucleotide variantPathogenicrs104894410GRCh37Chr 13, 20763546: 20763546

Expression for genes affiliated with Bart-Pumphrey Syndrome

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Sources:
2BioGPS, 16Gene 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:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 54QIAGEN, 31KEGG
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Compounds for genes affiliated with Bart-Pumphrey Syndrome

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Sources:
62Tocris Bioscience, 30IUPHAR, 25HMDB, 46Novoseek, 3BitterDB, 12DrugBank
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Compounds related to Bart-Pumphrey Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1scrambled 10panx629.3GJB2, GJB6
2gap 27629.3GJB6, GJB2
3carbenoxolone disodium629.2GJB6, GJB2
410panx629.2GJB2, GJB6
5octanol30 2510.1GJB2, GJB6
6flufenamic acid30 46 3 1212.1GJB6, GJB2
7carbenoxolone46 30 1211.0GJB6, GJB2
8ca2+308.8GJB6, GJB2

GO Terms for genes affiliated with Bart-Pumphrey Syndrome

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Sources:
17Gene 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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet