BPS
MCID: BRT001
MIFTS: 40

Bart-Pumphrey Syndrome (BPS) 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 52 11 24 25 54 70 12 13
Knuckle Pads, Leukonychia, and Sensorineural Deafness 52 11 25
Knuckle Pads, Deafness, and Leukonychia Syndrome 25 27
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome 54
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Keratoderma Syndrome 54
 
Knuckle Pads, Leukonychia and Sensorineural Deafness 24
Knuckle Pads, Leuconychia and Sensorineural Deafness 68
Knuckle Pads-Leukonychia-Sensorineural Deafness 70
Bps 70

Characteristics:

Orphanet epidemiological data:

54
bart-pumphrey syndrome:
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy

HPO:

64
bart-pumphrey syndrome:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 149200
Disease Ontology11 DOID:0050658
Orphanet54 ORPHA2698
UMLS via Orphanet69 C0266004
ICD10 via Orphanet31 Q82.8
MedGen37 C0266004

Summaries for Bart-Pumphrey Syndrome

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UniProtKB/Swiss-Prot:70 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 dnase1-related susceptibility to systemic lupus erythematosus, and has symptoms including Array, Array and Array. 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 immune system and integument.

Genetics Home Reference:25 Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss.

Description from OMIM:52 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 38)
idRelated DiseaseScoreTop Affiliating Genes
1knuckle pads, leuconychia and sensorineural deafness11.2
2dnase1-related susceptibility to systemic lupus erythematosus10.1GJB2, GJB6
3down syndrome-related congenital heart disease10.1GJB2, GJB6
4spastic ataxia, charlevoix-saguenay type10.1GJB2, GJB6
5pik3ca-related segmental overgrowth10.1GJB2, GJB6
6bietti crystalline corneoretinal dystrophy10.1GJB2, GJB6
7pink1 type of young-onset parkinson disease10.1GJB2, GJB6
8keratoderma, palmoplantar, with deafness10.1GJB2, GJB6
9ectodermal dysplasia 2, clouston type10.1GJB2, GJB6
10congenital herpes simplex10.1GJB2, GJB6
11molluscum contagiosum10.1GJB2, GJB6
12die smulders droog van dijk syndrome10.1GJB2, GJB6
13hereditary thrombocytosis with transverse limb defect10.1GJB2, GJB4
14bartter syndrome, type 110.1GJB2, GJB6
15deafness, autosomal dominant 2a10.1GJB2, GJB6
16autoimmune gastrointestinal dysmotility10.1GJB2, GJB6
17erythrocytosis due to bisphosphoglycerate mutase deficiency10.1GJB2, GJB6
18ehlers-danlos syndrome, type viib10.1GJB2, GJB4
19cockayne syndrome10.1GJB2, GJB6
20narcissistic personality disorder10.1GJB2, GJB6
21venous insufficiency10.0GJB2, GJB6
22cerebellar ataxia, mental retardation, and dysequilibrium syndrome 410.0GJA1, GJB2
23lichen planus pemphigoides10.0GJA1, PLCD1
24lemierre's syndrome10.0GJA1, GJB2
25obesity susceptibility, adrb3-related10.0GJB2, GJB6
26duodenum cancer10.0GJB2, GJB6
27telangiectasia macularis eruptiva perstans10.0GJB2, GJB6
28klumpke paralysis9.9GJB2, GJB4, GJB6
29breast leiomyoma9.9GJA1, GJB2
30mitochondrial non-syndromic sensorineural deafness9.8GJA1, GJB2, GJB6
31x-linked nonsyndromic deafness9.8GJA1, GJB2, GJB6
32hypoplastic left heart syndrome 19.8GJA1, GJB2, GJB4
33mesenchymal chondrosarcoma9.8GJA1, GJB2
34pseudomyotonia9.6GJA1, GJB2, GJB4, GJB6
35erythrokeratodermia variabilis et progressiva9.6GJA1, GJB2, GJB4, GJB6
36dementia, familial british9.6GJA1, GJB2, GJB4, GJB6
37solitary bone cyst9.6GJA1, GJB2, GJB4, GJB6
38troyer syndrome9.2GJA1, GJB2, GJB4, GJB6, PLCD1, RIPK4

Graphical network of the top 20 diseases related to Bart-Pumphrey Syndrome:



Diseases related to bart-pumphrey syndrome

Symptoms & Phenotypes for Bart-Pumphrey Syndrome

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Symptoms by clinical synopsis from OMIM:

149200

Clinical features from OMIM:

149200

Human phenotypes related to Bart-Pumphrey Syndrome:

 54 64 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment54 Very frequent (99-80%)
2 hyperkeratosis54 Very frequent (99-80%)
3 palmoplantar keratoderma54 Frequent (79-30%)
4 subcutaneous nodule54 Very frequent (99-80%)
5 leukonychia64 54 Very frequent (99-80%) HP:0001820
6 hearing impairment64 HP:0000365

MGI Mouse Phenotypes related to Bart-Pumphrey Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.5GJA1, GJB2, GJB6, PLCD1, RIPK4
2MP:00107717.7GJA1, GJB2, GJB6, PLCD1, RIPK4

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 Syndrome27
2 Knuckle Pads, Leukonychia and Sensorineural Deafness24 GJB2

Anatomical Context for Bart-Pumphrey Syndrome

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MalaCards organs/tissues related to Bart-Pumphrey Syndrome:

36
Skin

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:

70
id Symbol AA change Variation ID SNP ID
1GJB2p.Asn54LysVAR_032750rs104894412
2GJB2p.Gly59SerVAR_032751rs104894410

Clinvar genetic disease variations for Bart-Pumphrey Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GJB2NM_ 004004.5(GJB2): c.35delG (p.Gly12Valfs)deletionPathogenicrs80338939GRCh37Chr 13, 20763686: 20763686
2GJB2NM_ 004004.5(GJB2): c.162C> A (p.Asn54Lys)SNVPathogenicrs104894412GRCh37Chr 13, 20763559: 20763559
3GJB2NM_ 004004.5(GJB2): c.175G> A (p.Gly59Ser)SNVPathogenicrs104894410GRCh37Chr 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
1cell junctionGO:00300548.6GJA1, GJB2, GJB4, GJB6
2connexin complexGO:00059228.5GJA1, GJB2, GJB4, GJB6
3gap junctionGO:00059218.1GJA1, GJB2, GJB4, GJB6

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1inner ear developmentGO:004883910.2GJB2, GJB6
2decidualizationGO:00466979.9GJA1, GJB2
3gap junction assemblyGO:00162649.9GJA1, GJB2
4response to ischemiaGO:00029319.9GJA1, GJB2
5response to retinoic acidGO:00325269.8GJA1, GJB2
6sensory perception of soundGO:00076059.5GJB2, GJB6
7response to lipopolysaccharideGO:00324969.3GJA1, GJB2, GJB6
8cell communicationGO:00071548.8GJA1, GJB2, GJB4, GJB6

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

idNameGO IDScoreTop Affiliating Genes
1gap junction channel activityGO:00052439.2GJA1, GJB2

Sources for Bart-Pumphrey Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet