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

About this section

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, Leuconychia and Sensorineural Deafness 68
Knuckle Pads, Leukonychia and Sensorineural Deafness 24
Knuckle Pads-Leukonychia-Sensorineural Deafness 70
Popliteal Pterygium Syndrome, Lethal Type 68
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

About this section
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 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 Vesicle-mediated transport and Gap junction trafficking. Affiliated tissues include skin, and related mouse phenotypes are hearing/vestibular/ear and immune system.

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

About this section

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 deafness11.2
2hystrix-like ichthyosis with deafness10.2GJA1, GJB2
3nonsyndromic hearing loss and deafness, mitochondrial10.1GJB2, GJB6
4myocardial infarction 210.1GJB2, GJB6
5herpes simplex encephalitis10.1GJA1, PLCD1
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 cancer10.1GJB2, 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
18pyelitis9.9GJB2, 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 subtypes9.7GJA1, GJB2, GJB6
24breast fibroadenoma9.6GJA1, GJB2
25syndactyly, type iii9.5GJA1, GJB2, GJB4
26punctate palmoplantar keratoderma type 29.4GJB2, GJB4, GJB6
27small non-cleaved cell lymphoma9.4GJB2, GJB4, GJB6
28pseudohermaphrodism anorectal anomalies9.0GJA1, GJB2, GJB4, GJB6
29erythrokeratodermia variabilis et progressiva9.0GJA1, GJB2, GJB4, GJB6
30dementia, familial british9.0GJA1, GJB2, GJB4, GJB6
31troyer syndrome8.5GJA1, GJB2, GJB4, GJB6, PLCD1

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



Diseases related to bart-pumphrey syndrome

Symptoms & Phenotypes for Bart-Pumphrey Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

149200

Clinical features from OMIM:

149200

Human phenotypes related to Bart-Pumphrey Syndrome:

 64 54 (show all 7)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment64 54 hallmark (90%) Very frequent (99-80%) HP:0000407
2 abnormality of nail color64 hallmark (90%) HP:0100643
3 palmoplantar keratoderma64 54 typical (50%) Frequent (79-30%) HP:0000982
4 hearing impairment64 HP:0000365
5 leukonychia64 54 Very frequent (99-80%) HP:0001820
6 hyperkeratosis54 Very frequent (99-80%)
7 subcutaneous nodule54 Very frequent (99-80%)

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

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.7GJA1, GJB2, GJB6
2MP:00053878.7GJA1, GJB2, GJB6, PLCD1, RIPK4
3MP:00107717.9GJA1, GJB2, GJB6, PLCD1, RIPK4

Drugs & Therapeutics for Bart-Pumphrey Syndrome

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Bart-Pumphrey Syndrome

Genetic Tests for Bart-Pumphrey Syndrome

About this section

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

About this section

MalaCards organs/tissues related to Bart-Pumphrey Syndrome:

36
Skin

Publications for Bart-Pumphrey Syndrome

About this section

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

About this section

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.162C> A (p.Asn54Lys)SNVPathogenicrs104894412GRCh37Chr 13, 20763559: 20763559
2GJB2NM_004004.5(GJB2): c.175G> A (p.Gly59Ser)SNVPathogenicrs104894410GRCh37Chr 13, 20763546: 20763546
3RIPK4NM_020639.2(RIPK4): c.1127C> A (p.Ser376Ter)SNVPathogenicrs387906921GRCh37Chr 21, 43164110: 43164110
4RIPK4NM_020639.2(RIPK4): c.242T> A (p.Ile81Asn)SNVPathogenicrs387906922GRCh37Chr 21, 43176917: 43176917
5RIPK4NM_020639.2(RIPK4): c.362T> A (p.Ile121Asn)SNVPathogenicrs387906923GRCh37Chr 21, 43176797: 43176797
6RIPK4RIPK4, 1-BP INS, 777AinsertionPathogenicChr na, -1: -1

Expression for genes affiliated with Bart-Pumphrey Syndrome

About this section
Search GEO for disease gene expression data for Bart-Pumphrey Syndrome.

Pathways for genes affiliated with Bart-Pumphrey Syndrome

About this section

GO Terms for genes affiliated with Bart-Pumphrey Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1lateral plasma membraneGO:00163289.5GJA1, GJB2
2cell junctionGO:00300549.5GJA1, GJB2, GJB6
3gap junctionGO:00059219.4GJA1, GJB2, GJB6
4connexin complexGO:00059228.6GJA1, GJB2, GJB4, GJB6

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

idNameGO IDScoreTop Affiliating Genes
1gap junction assemblyGO:001626410.1GJA1, GJB2
2sensory perception of soundGO:00076059.4GJB2, GJB6
3cell communicationGO:00071549.1GJA1, 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

About this section
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