MCID: BRT001
MIFTS: 40

Bart-Pumphrey Syndrome

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

Aliases & Classifications for Bart-Pumphrey Syndrome

MalaCards integrated aliases for Bart-Pumphrey Syndrome:

Name: Bart-Pumphrey Syndrome 54 12 24 25 56 71 13 14
Knuckle Pads, Leukonychia, and Sensorineural Deafness 12 25
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome 56
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Keratoderma Syndrome 56
Knuckle Pads, Leuconychia and Sensorineural Deafness 69
Knuckle Pads, Leukonychia and Sensorineural Deafness 24
Knuckle Pads, Deafness, and Leukonychia Syndrome 25
Knuckle Pads-Leukonychia-Sensorineural Deafness 71
Knuckle Pads, Deafness and Leukonychia Syndrome 29
Bps 71

Characteristics:

Orphanet epidemiological data:

56
knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
bart-pumphrey syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 149200
Disease Ontology 12 DOID:0050658
Orphanet 56 ORPHA2698
UMLS via Orphanet 70 C0266004
ICD10 via Orphanet 34 Q82.8
MedGen 40 C0266004

Summaries for Bart-Pumphrey Syndrome

UniProtKB/Swiss-Prot : 71 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 lemierre's syndrome, and has symptoms including leukonychia, palmoplantar keratoderma and hyperkeratosis. An important gene associated with Bart-Pumphrey Syndrome is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are Vesicle-mediated transport and Myometrial Relaxation and Contraction Pathways. Affiliated tissues include skin, and related phenotypes are hearing/vestibular/ear and integument

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

Description from OMIM: 149200

Related Diseases for Bart-Pumphrey Syndrome

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

(show all 33)
id Related Disease Score Top Affiliating Genes
1 knuckle pads, leuconychia and sensorineural deafness 11.2
2 lemierre's syndrome 10.2 GJA1 GJB2
3 hystrix-like ichthyosis with deafness 10.2 GJA1 GJB2
4 levotransposition of the great arteries 10.2 GJA1 PLCD1
5 myocardial infarction 2 10.1 GJB2 GJB6
6 myopia 22, autosomal dominant 10.1 GJB2 GJB6
7 deafness, autosomal dominant 3a 10.1 GJB2 GJB6
8 congenital disorder of glycosylation with developmental anomaly 10.1 GJB2 GJB6
9 fascioliasis 10.1 GJB2 GJB6
10 diabetes persistent mullerian ducts 10.1 GJB2 GJB6
11 keratoderma, palmoplantar, with deafness 10.0 GJB2 GJB6
12 nonsyndromic hydrocephalus, ccdc88c-related 10.0 GJB2 GJB6
13 microcephaly and chorioretinopathy, autosomal recessive, 3 10.0 GJB2 GJB6
14 viral laryngitis 10.0 GJB2 GJB6
15 deafness, autosomal dominant 2a 10.0 GJB2 GJB6
16 transient neonatal multiple acyl-coa dehydrogenase deficiency 9.9 GJB2 GJB4
17 nodular lichen myxedematosus 9.9 GJB2 GJB6
18 ausems wittebol-post hennekam syndrome 9.9 GJB2 GJB6
19 narcissistic personality disorder 9.8 GJB2 GJB6
20 spastic paraplegia 50, autosomal recessive 9.8 GJB2 GJB4
21 mixed lacrimal gland cancer 9.8 GJB2 GJB6
22 endometritis 9.8 GJB2 GJB6
23 dihydrolipoamide dehydrogenase deficiency 9.7 GJB2 GJB6
24 discrete papular lichen myxedematosus 9.6 GJA1 GJB2 GJB6
25 autosomal recessive nonsyndromic deafness 9.6 GJA1 GJB2 GJB6
26 cerebral artery occlusion 9.5 GJB2 GJB6
27 syndactyly, type iii 9.4 GJA1 GJB2 GJB4
28 kikuchi disease 9.3 GJB2 GJB4 GJB6
29 pseudocholinesterase deficiency 8.8 GJA1 GJB2 GJB4 GJB6
30 erythrokeratodermia variabilis et progressiva 1 8.8 GJA1 GJB2 GJB4 GJB6
31 dementia, familial british 8.8 GJA1 GJB2 GJB4 GJB6
32 small non-cleaved cell lymphoma 8.8 GJA1 GJB2 GJB4 GJB6
33 troyer syndrome 8.3 GJA1 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

Symptoms via clinical synopsis from OMIM:

54

Limbs:
knuckle pads

Ears:
cochlear deafness

Nails:
leukonychia

Skin:
keratosis palmaris et plantaris


Clinical features from OMIM:

149200

Human phenotypes related to Bart-Pumphrey Syndrome:

56 32 (show all 6)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 leukonychia 56 32 Very frequent (99-80%) HP:0001820
2 palmoplantar keratoderma 56 Frequent (79-30%)
3 hyperkeratosis 56 Very frequent (99-80%)
4 sensorineural hearing impairment 56 Very frequent (99-80%)
5 hearing impairment 32 HP:0000365
6 subcutaneous nodule 56 Very frequent (99-80%)

MGI Mouse Phenotypes related to Bart-Pumphrey Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hearing/vestibular/ear MP:0005377 9.33 GJA1 GJB2 GJB6
2 integument MP:0010771 9.26 GJA1 GJB2 GJB6 PLCD1
3 reproductive system MP:0005389 8.92 GJA1 GJB2 GJB4 PLCD1

Drugs & Therapeutics for Bart-Pumphrey Syndrome

Search Clinical Trials , NIH Clinical Center for Bart-Pumphrey Syndrome

Genetic Tests for Bart-Pumphrey Syndrome

Genetic tests related to Bart-Pumphrey Syndrome:

id Genetic test Affiliating Genes
1 Knuckle Pads, Deafness and Leukonychia Syndrome 29
2 Knuckle Pads, Leukonychia and Sensorineural Deafness 24 GJB2

Anatomical Context for Bart-Pumphrey Syndrome

MalaCards organs/tissues related to Bart-Pumphrey Syndrome:

39
Skin

Publications for Bart-Pumphrey Syndrome

Articles related to Bart-Pumphrey Syndrome:

id Title Authors Year
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

UniProtKB/Swiss-Prot genetic disease variations for Bart-Pumphrey Syndrome:

71
id Symbol AA change Variation ID SNP ID
1 GJB2 p.Asn54Lys VAR_032750 rs104894412
2 GJB2 p.Gly59Ser VAR_032751 rs104894410

ClinVar genetic disease variations for Bart-Pumphrey Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
2 GJB2 NM_004004.5(GJB2): c.162C> A (p.Asn54Lys) single nucleotide variant Pathogenic rs104894412 GRCh37 Chromosome 13, 20763559: 20763559
3 GJB2 NM_004004.5(GJB2): c.175G> A (p.Gly59Ser) single nucleotide variant Pathogenic rs104894410 GRCh37 Chromosome 13, 20763546: 20763546

Expression for Bart-Pumphrey Syndrome

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

Pathways for Bart-Pumphrey Syndrome

GO Terms for Bart-Pumphrey Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.65 GJA1 GJB2 GJB4 GJB6 PLCD1
2 cell junction GO:0030054 9.46 GJA1 GJB2 GJB4 GJB6
3 gap junction GO:0005921 9.26 GJA1 GJB2 GJB4 GJB6
4 connexin complex GO:0005922 8.92 GJA1 GJB2 GJB4 GJB6

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

id Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.43 GJB2 GJB6
2 inner ear development GO:0048839 9.4 GJB2 GJB6
3 response to retinoic acid GO:0032526 9.37 GJA1 GJB2
4 response to lipopolysaccharide GO:0032496 9.33 GJA1 GJB2 GJB6
5 response to ischemia GO:0002931 9.32 GJA1 GJB2
6 decidualization GO:0046697 9.26 GJA1 GJB2
7 gap junction assembly GO:0016264 8.96 GJA1 GJB2
8 cell communication GO:0007154 8.92 GJA1 GJB2 GJB4 GJB6

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

id Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.62 GJA1 GJB2

Sources for Bart-Pumphrey Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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