MCID: BRT001
MIFTS: 38

Bart-Pumphrey Syndrome malady

Categories: Genetic diseases (common), Ear diseases

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
Popliteal Pterygium Syndrome, Lethal Type 65
Bps 67

Characteristics:

HPO:

61
bart-pumphrey syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 149200
Disease Ontology10 DOID:0050658
MedGen34 C0266004
UMLS65 C0266004, C1849718

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

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 deafness11.9
2cryptorchidism10.6
3functional diarrhea10.6
4diarrhea10.6
5hystrix-like ichthyosis with deafness10.1GJA1, GJB2
6leukoplakia10.1GJA1, PLCD1
7spastic paraplegia 50, autosomal recessive10.0GJB2, GJB4
8nonsyndromic hearing loss and deafness, dfnb110.0GJB2, GJB6
9myocardial infarction 210.0GJB2, GJB6
10nonsyndromic hearing loss and deafness, mitochondrial9.9GJB2, GJB6
11deafness, autosomal dominant 3a9.9GJB2, GJB6
12congenital deafness with vitiligo and achalasia9.9GJB2, GJB6
13metagonimiasis9.9GJB2, GJB6
14nonsyndromic hearing loss and deafness, autosomal dominant9.9GJB2, GJB6
15dhdds-cdg9.9GJB2, GJB6
16acral persistent papular mucinosis9.9GJB2, GJB6
17auditory perceptual disorder9.8GJB2, GJB6
18pseudoaminopterin syndrome9.8GJB4, GJB6
19dihydrolipoamide dehydrogenase deficiency9.8GJB2, GJB6
20pulmonary tuberculosis9.8GJB2, GJB6
21syndactyly, type iii9.8GJA1, GJB2, GJB4
22pyeloureteritis cystica9.7GJB2, GJB6
23thyroid lymphoma9.7GJB2, GJB6
24acute hydrops keratoconus9.7GJB2, GJB6
25self-healing papular mucinosis9.6GJA1, GJB2, GJB6
26kidney cancer, childhood9.6GJB2, GJB4, GJB6
27autosomal dominant nonsyndromic deafness9.6GJB2, GJB6
28small intestine lymphoma9.5GJB2, GJB4, GJB6
29erythrokeratodermia variabilis et progressiva9.3GJA1, GJB2, GJB4, GJB6
30troyer syndrome9.2GJA1, GJB2, GJB4, GJB6
31ectodermal dysplasia 2, clouston type8.9GJA1, 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:

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

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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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
2MP:00107718.2GJA1, GJB2, GJB6, PLCD1

Publications for Bart-Pumphrey Syndrome

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Articles related to Bart-Pumphrey Syndrome:

idTitleAuthorsYear
1
Critical region in 2q31.2q32.3 deletion syndrome: Report of two phenotypically distinct patients, one with an additional deletion in Alagille syndrome region. (22550961)
2012
2
Diagnostic values of serum orexin-A levels in children with obstructive sleep apnea-hypopnea syndrome]. (19099733)
2008
3
Inflammatory myofibroblastic tumor of paranasal sinuses. (17457491)
2007
4
Familial unilateral deafness and delayed endolymphatic hydrops. (17497713)
2007
5
cAMP response element binding protein (CREB) activates transcription via two distinct genetic elements of the human glucose-6-phosphatase gene. (15659240)
2005

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

idNameGO IDScoreTop Affiliating Genes
1membrane organizationGO:00610249.5GJA1, GJB2
2sensory perception of soundGO:00076059.2GJB2, GJB6
3cell communicationGO:00071549.0GJB2, GJB4, GJB6
4negative regulation of cell proliferationGO:00082858.8GJA1, GJB6

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