MCID: BRT001
MIFTS: 36

Bart-Pumphrey Syndrome malady

Genetic diseases (common), Ear diseases categories

Aliases & Classifications for Bart-Pumphrey Syndrome

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Aliases & Descriptions for Bart-Pumphrey Syndrome:

Name: Bart-Pumphrey Syndrome 49 10 11 23 12 67
Knuckle Pads, Leukonychia, and Sensorineural Deafness 10 23
Knuckle Pads, Deafness, and Leukonychia Syndrome 23 24
 
Knuckle Pads, Leuconychia and Sensorineural Deafness 65
Knuckle Pads-Leukonychia-Sensorineural Deafness 67
Bps 67


Classifications:



External Ids:

OMIM49 149200
Disease Ontology10 DOID:0050658
MedGen34 C0266004

Summaries for Bart-Pumphrey Syndrome

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UniProtKB/Swiss-Prot:67 Bart-Pumphrey syndrome: An autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability.

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 knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome, and has symptoms including sensorineural hearing impairment, abnormality of nail color and palmoplantar keratoderma. An important gene associated with Bart-Pumphrey Syndrome is GJB2 (Gap Junction Protein, Beta 2, 26kDa), and among its related pathways are Oligomerization of connexins into connexons and Vesicle-mediated transport. Affiliated tissues include skin, and related mouse phenotype hearing/vestibular/ear.

Genetics Home Reference:23 Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss.

Description from OMIM:49 149200

Related Diseases for Bart-Pumphrey Syndrome

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Diseases related to Bart-Pumphrey Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
idRelated DiseaseScoreTop Affiliating Genes
1knuckle pads, leuconychia and sensorineural deafness10.4
2knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome10.4
3keratitis-ichthyosis-deafness syndrome10.1GJA1, GJB2
4leukoplakia10.1GJA1, PLCD1
5lethal encephalopathy due to mitochondrial and peroxisomal fission defect10.1GJB2, GJB4
6kidney angiomyolipoma10.0GJA1, GJB2
7nonsyndromic hearing loss and deafness, dfnb110.0GJB2, GJB6
8nonsyndromic hearing loss and deafness, mitochondrial10.0GJB2, GJB6
9deafness, autosomal recessive 1a10.0GJB2, GJB6
10congenital deafness with vitiligo and achalasia10.0GJB2, GJB6
11hemangioma, hereditary10.0GJB2, GJB6
12colon carcinoma in situ9.9GJB2, GJB6
13bart-pumphrey syndrome9.9GJB2, GJB6
14nonsyndromic hearing loss and deafness, autosomal dominant9.9GJB2, GJB6
15dhdds-cdg9.9GJB2, GJB6
16deafness, autosomal recessive 4, with enlarged vestibular aqueduct9.9GJB2, GJB6
17auditory perceptual disorder9.9GJB2, GJB6
18intermediate uveitis9.9GJB2, GJB6
19acral persistent papular mucinosis9.9GJB2, GJB6
20oculodentodigital dysplasia9.9GJA1, GJB2, GJB4
21nose disease9.8GJB2, GJB6
22arrhythmogenic right ventricular cardiomyopathy9.8GJB2, GJB6
23autism spectrum disorder9.8GJB2, GJB6
24self-healing papular mucinosis9.8GJA1, GJB2, GJB6
25kienbock's disease9.7GJB2, GJB4, GJB6
26acoustic neuroma9.7GJB2, GJB6
27small intestine lymphoma9.7GJB2, GJB4, GJB6
28pseudoaminopterin syndrome9.5GJA1, GJB2, GJB4, GJB6
29erythrokeratodermia variabilis et progressiva9.5GJA1, GJB2, GJB4, GJB6
30troyer syndrome9.5GJA1, GJB2, GJB4, GJB6
31ectodermal dysplasia 2, clouston type9.3GJA1, GJB2, GJB4, GJB6, PLCD1

Graphical network of the top 20 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

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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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Bart-Pumphrey Syndrome

Genetic Tests for Bart-Pumphrey Syndrome

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Genetic tests related to Bart-Pumphrey Syndrome:

id Genetic test Affiliating Genes
1 Knuckle Pads, Deafness and Leukonychia Syndrome24

Anatomical Context for Bart-Pumphrey Syndrome

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MalaCards organs/tissues related to Bart-Pumphrey Syndrome:

33
Skin

Animal Models for Bart-Pumphrey Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Bart-Pumphrey Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.7GJA1, GJB2, GJB6

Publications for Bart-Pumphrey Syndrome

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Articles related to Bart-Pumphrey Syndrome:

idTitleAuthorsYear
1
Heimler's syndrome: a close mimic of Bart-Pumphrey syndrome. (26519192)
2015
2
A family of Bart-Pumphrey syndrome. (22421650)
2012
3
G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart- Pumphrey syndrome. (15952212)
2005
4
Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. (15482471)
2004
5
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:

67
id Symbol AA change Variation ID SNP ID
1GJB2p.Asn54LysVAR_032750
2GJB2p.Gly59SerVAR_032751

Clinvar genetic disease variations for Bart-Pumphrey Syndrome:

5
id Gene Variation 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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Search GEO for disease gene expression data for Bart-Pumphrey Syndrome.

Pathways for genes affiliated with Bart-Pumphrey Syndrome

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GO Terms for genes affiliated with Bart-Pumphrey Syndrome

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Cellular components related to Bart-Pumphrey Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1gap junctionGO:00059218.7GJA1, GJB2, GJB6
2connexon complexGO:00059228.2GJA1, GJB2, GJB4, GJB6

Biological processes related to Bart-Pumphrey Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1gap junction assemblyGO:00162649.9GJA1, GJB2
2sensory perception of soundGO:00076059.2GJB2, GJB6
3cell communicationGO:00071548.3GJA1, GJB2, GJB4, GJB6

Molecular functions related to Bart-Pumphrey Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:00052439.5GJA1, GJB2

Sources for Bart-Pumphrey Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet