MCID: BRT001
MIFTS: 40

Bart-Pumphrey Syndrome malady

Categories: Genetic diseases, Ear diseases, Skin diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Bart-Pumphrey Syndrome

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Aliases & Descriptions for Bart-Pumphrey Syndrome:

Name: Bart-Pumphrey Syndrome 50 11 24 13 52 68 12
Knuckle Pads, Leukonychia, and Sensorineural Deafness 50 11 24
Knuckle Pads, Deafness, and Leukonychia Syndrome 24 25
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome 52
 
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Keratoderma Syndrome 52
Knuckle Pads, Leuconychia and Sensorineural Deafness 66
Knuckle Pads-Leukonychia-Sensorineural Deafness 68
Bps 68

Characteristics:

Orphanet epidemiological data:

52
bart-pumphrey syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy

HPO:

62
bart-pumphrey syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 149200
Disease Ontology11 DOID:0050658
Orphanet52 ORPHA2698
ICD10 via Orphanet29 Q82.8
UMLS via Orphanet67 C0266004
MedGen35 C0266004

Summaries for Bart-Pumphrey Syndrome

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UniProtKB/Swiss-Prot:68 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 hystrix-like ichthyosis with deafness, 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), and among its related pathways are Transport of connexins along the secretory pathway and Vesicle-mediated transport. Affiliated tissues include skin, and related mouse phenotypes are hearing/vestibular/ear and integument.

Genetics Home Reference:24 Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss.

Description from OMIM:50 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 deafness11.3
2hystrix-like ichthyosis with deafness10.2GJA1, GJB2
3herpes simplex encephalitis10.2GJA1, PLCD1
4nonsyndromic hearing loss and deafness, mitochondrial10.1GJB2, GJB6
5myocardial infarction 210.1GJB2, GJB6
6noonan syndrome with multiple lentigines10.1GJB2, GJB6
7deafness, autosomal dominant 3a10.1GJB2, GJB6
8thumb deformity, alopecia, pigmentation anomaly10.1GJB2, GJB6
9continuous spike-wave during slow sleep syndrome10.1GJB2, GJB6
10sublingual gland cancer10.0GJB2, GJB6
11ectodermal dysplasia 2, clouston type10.0GJB2, GJB6
12nonsyndromic hearing loss and deafness, autosomal recessive10.0GJB2, GJB6
13self-healing papular mucinosis10.0GJB2, GJB6
14dandy-walker malformation with nasopharyngeal teratoma and diaphragmatic hernia10.0GJB2, GJB6
15dihydrolipoamide dehydrogenase deficiency9.9GJB2, GJB6
16non-hypoproteinemic hypertrophic gastropathy9.9GJB2, GJB4
17hyperimmunoglobulin syndrome9.9GJB2, GJB6
18pyelitis9.8GJB2, GJB6
19spastic paraplegia 50, autosomal recessive9.8GJB2, GJB4
20cerebral artery occlusion9.8GJB2, GJB6
21endometritis9.8GJB2, GJB6
22autosomal recessive nonsyndromic deafness9.7GJB2, GJB6
23localized lichen myxedematosus with mixed features of different subtypes9.6GJA1, GJB2, GJB6
24breast fibroadenoma9.6GJA1, GJB2
25syndactyly, type iii9.4GJA1, GJB2, GJB4
26punctate palmoplantar keratoderma type 29.3GJB2, GJB4, GJB6
27small non-cleaved cell lymphoma9.3GJB2, GJB4, GJB6
28pseudohermaphrodism anorectal anomalies8.8GJA1, GJB2, GJB4, GJB6
29erythrokeratodermia variabilis et progressiva8.8GJA1, GJB2, GJB4, GJB6
30dementia, familial british8.8GJA1, GJB2, GJB4, GJB6
31troyer syndrome8.3GJA1, 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

Symptoms:

 52
  • sensorineural hearing impairment
  • hyperkeratosis
  • palmoplantar keratoderma
  • subcutaneous nodule
  • leukonychia

HPO human phenotypes related to Bart-Pumphrey Syndrome:

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 hearing impairment HP:0000365
5 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 Syndrome25

Anatomical Context for Bart-Pumphrey Syndrome

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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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MGI Mouse Phenotypes related to Bart-Pumphrey Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.6GJA1, GJB2, GJB6
2MP:00107718.4GJA1, GJB2, GJB6, PLCD1

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:

68
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
1lateral plasma membraneGO:00163289.5GJA1, GJB2
2gap junctionGO:00059219.0GJA1, GJB2, GJB6
3connexin complexGO:00059228.7GJA1, GJB2, GJB4, GJB6
4cell junctionGO:00300548.6GJA1, GJB2, GJB6

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

idNameGO IDScoreTop Affiliating Genes
1gap junction assemblyGO:00162649.6GJA1, GJB2
2sensory perception of soundGO:00076059.4GJB2, GJB6
3cell communicationGO:00071548.7GJA1, 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet