MCID: BRT001
MIFTS: 37

Bart-Pumphrey Syndrome malady

Genetic diseases, Ear diseases, Skin diseases, Fetal diseases, Rare diseases categories
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Summaries for Bart-Pumphrey Syndrome

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Genetics Home Reference:21 Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss.

MalaCards based summary: 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 10panx and scrambled 10panx 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:46 149200

Aliases & Classifications for Bart-Pumphrey Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 62UMLS, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Bart-Pumphrey Syndrome, Aliases & Descriptions:

Name: Bart-Pumphrey Syndrome 8 9 21 46 10 48
Knuckle Pads, Leukonychia, and Sensorineural Deafness 8 21
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome 48
 
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Keratoderma Syndrome 48
Knuckle Pads, Leuconychia and Sensorineural Deafness 62
Knuckle Pads, Deafness, and Leukonychia Syndrome 21


Classifications:



External Ids:

Disease Ontology8 DOID:0050658
OMIM46 149200
ICD10 via Orphanet26 Q82.8
UMLS via Orphanet63 C0266004

Related Diseases for Bart-Pumphrey Syndrome

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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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Symptoms by clinical synopsis from OMIM:

149200

Clinical features 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

HPO human phenotypes related to Bart-Pumphrey Syndrome:

(show all 6)
id Description Frequency HPO Source Accession
1 sensorineural hearing impairment hallmark (90%) HP:0000407
2 abnormality of nail color hallmark (90%) HP:0100643
3 palmoplantar keratoderma typical (50%) HP:0000982
4 autosomal dominant inheritance HP:0000006
5 hearing impairment HP:0000365
6 leukonychia HP:0001820

Drugs & Therapeutics for Bart-Pumphrey Syndrome

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Drug clinical trials:

Search ClinicalTrials for Bart-Pumphrey Syndrome

Search NIH Clinical Center for Bart-Pumphrey Syndrome

Genetic Tests for Bart-Pumphrey Syndrome

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Anatomical Context for Bart-Pumphrey Syndrome

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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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MGI Mouse Phenotypes related to Bart-Pumphrey Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030129.1GJB2, GJB6
2MP:00053778.8GJB2, GJB6

Publications for Bart-Pumphrey Syndrome

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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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UniProtKB/Swiss-Prot genetic disease variations for Bart-Pumphrey Syndrome:

64
id Symbol AA change Variation ID SNP ID
1GJB2p.Asn54LysVAR_032750
2GJB2p.Gly59SerVAR_032751

Clinvar genetic disease variations for Bart-Pumphrey Syndrome:

6
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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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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Compounds for genes affiliated with Bart-Pumphrey Syndrome

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Compounds related to Bart-Pumphrey Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
110panx619.3GJB2, GJB6
2scrambled 10panx619.3GJB2, GJB6
3carbenoxolone disodium619.2GJB2, GJB6
4gap 27619.2GJB2, GJB6
5octanol28 2410.1GJB6, GJB2
6flufenamic acid28 44 2 1112.1GJB2, GJB6
7carbenoxolone44 28 1111.0GJB2, GJB6
8ca2+288.8GJB2, GJB6

GO Terms for genes affiliated with Bart-Pumphrey Syndrome

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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet