BAPS
MCID: BRT001
MIFTS: 45

Bart-Pumphrey Syndrome (BAPS)

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

Aliases & Classifications for Bart-Pumphrey Syndrome

MalaCards integrated aliases for Bart-Pumphrey Syndrome:

Name: Bart-Pumphrey Syndrome 56 12 52 25 58 73 36 13 15
Knuckle Pads, Leukonychia, and Sensorineural Deafness 56 12 25 73
Knuckle Pads, Deafness and Leukonychia Syndrome 29 6 39
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome 52 58
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Keratoderma Syndrome 52 58
Knuckle Pads-Leukonychia-Sensorineural Hearing Loss-Palmoplantar Hyperkeratosis Syndrome 58
Knuckle Pads-Leukonychia-Sensorineural Hearing Loss-Palmoplantar Keratoderma Syndrome 58
Knuckle Pads, Leuconychia and Sensorineural Deafness 52
Knuckle Pads, Deafness, and Leukonychia Syndrome 25
Knuckle Pads-Leukonychia-Sensorineural Deafness 73
Baps 56
Kpld 73

Characteristics:

Orphanet epidemiological data:

58
knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
bart-pumphrey syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0050658
OMIM 56 149200
KEGG 36 H00706
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 72 C0266004
Orphanet 58 ORPHA2698
MedGen 41 C0266004

Summaries for Bart-Pumphrey Syndrome

Genetics Home Reference : 25 Bart-Pumphrey syndrome is characterized by nail and skin abnormalities and hearing loss. People with Bart-Pumphrey syndrome typically have a white discoloration of the nails (leukonychia); the nails may also be thick and crumbly. Affected individuals often have wart-like (verrucous) skin growths called knuckle pads on the knuckles of the fingers and toes. They may also have thickening of the skin on the palms of the hands and soles of the feet (palmoplantar keratoderma). The skin abnormalities generally become noticeable during childhood. The hearing loss associated with Bart-Pumphrey syndrome ranges from moderate to profound and is typically present from birth (congenital). The signs and symptoms of this disorder may vary even within the same family; while almost all affected individuals have hearing loss, they may have different combinations of the other associated features.

MalaCards based summary : Bart-Pumphrey Syndrome, also known as knuckle pads, leukonychia, and sensorineural deafness, is related to keratoderma, palmoplantar, with deafness and keratitis-ichthyosis-deafness syndrome, autosomal dominant. 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 G-Beta Gamma Signaling. Affiliated tissues include skin, and related phenotypes are sensorineural hearing impairment and subcutaneous nodule

Disease Ontology : 12 A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has material basis in heterozygous mutation in the GJB2 gene on chromosome 13q12.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2698 Definition A rare, syndromic genetic deafness disease characterized by symmetric or asymmetirc knuckle pads (typically located on the distal and interphalangeal joints), leukonychia, diffuse palmoplantar keratoderma, and congenital , mild to moderate sensorineural deafness. Visit the Orphanet disease page for more resources.

OMIM : 56 Bart-Pumphrey syndrome (BAPS) is an autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, which show considerable phenotypic variability (summary by Richard et al., 2004). (149200)

KEGG : 36 Bart-Pumphrey syndrome is an autosomal dominant disorder characterized by congenital deafness and palmoplantar hyperkeratosis. Patients also display knuckle pads and leukonychia. GJB2, the gene encoding connexin-26, is mutated in the disease.

UniProtKB/Swiss-Prot : 73 Knuckle pads, leukonychia, and sensorineural deafness: An autosomal dominant disorder characterized by sensorineural hearing loss, palmoplantar keratoderma, knuckle pads, and leukonychia, It shows considerable phenotypic variability.

Wikipedia : 74 Bart-Pumphrey syndrome (also known as "Palmoplantar keratoderma with knuckle pads and leukonychia and... more...

Related Diseases for Bart-Pumphrey Syndrome

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

(show top 50) (show all 120)
# Related Disease Score Top Affiliating Genes
1 keratoderma, palmoplantar, with deafness 31.7 GJB6 GJB4 GJB3 GJB2 GJA1
2 keratitis-ichthyosis-deafness syndrome, autosomal dominant 30.6 GJB6 GJB2 GJA1
3 ichthyosis 30.6 GJB6 GJB2 GJA1
4 knuckle pads 30.2 GJB6 GJB4 GJB3 GJB2 GJA1
5 palmoplantar keratosis 30.0 GJB6 GJB4 GJB3 GJB2 GJA1
6 sensorineural hearing loss 29.9 MT-RNR1 GJB6 GJB3 GJB2
7 vohwinkel syndrome 29.9 GJB6 GJB5 GJB4 GJB3 GJB2
8 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.7
9 keratosis 10.6
10 mastitis 10.5
11 dupuytren contracture 10.4
12 keratitis, hereditary 10.4
13 branchiootic syndrome 1 10.4
14 nonsyndromic hearing loss and deafness, dfna3 10.3 GJB6 GJB2
15 purulent labyrinthitis 10.2 GJB6 GJB2
16 viral labyrinthitis 10.2 GJB6 GJB2
17 autism 10.2
18 lung cancer 10.2
19 deafness, autosomal dominant 2b 10.2 GJB3 GJB2
20 deafness, autosomal recessive 91 10.2 GJB3 GJB2
21 deafness, autosomal dominant 2a 10.2 GJB3 GJB2
22 deafness, autosomal dominant 9 10.1 GJB3 GJB2
23 inflammatory bowel disease 10.1
24 bone resorption disease 10.1
25 substance abuse 10.1
26 x-linked charcot-marie-tooth disease 10.1 GJB2 GJB1
27 hypotrichosis-deafness syndrome 10.1 GJB4 GJB3 GJB2
28 deafness, autosomal recessive 26 10.1 MT-RNR1 GJB2
29 nonsyndromic hearing loss and deafness, dfnb1 10.0 GJB6 GJB3 GJB2
30 dfnb1 10.0 GJB6 GJB3 GJB2
31 deafness, autosomal dominant 3b 10.0 GJB6 GJB3 GJB2
32 deafness, autosomal recessive 1b 10.0 GJB6 GJB3 GJB2
33 nevus, epidermal 10.0 GJB4 GJB3 GJB2
34 deafness, x-linked 2 10.0 GJB6 GJB3 GJB2
35 autosomal dominant non-syndromic sensorineural deafness type dfna 10.0 GJB6 GJB3 GJB2
36 pelizaeus-merzbacher-like disease 10.0 GJB1 GJA1
37 palmoplantar keratoderma, epidermolytic 10.0 GJB3 GJB2
38 burkitt lymphoma 10.0
39 major affective disorder 1 10.0
40 diaphragmatic hernia, congenital 10.0
41 obsessive-compulsive disorder 10.0
42 lymphoma, hodgkin, classic 10.0
43 marinesco-sjogren syndrome 10.0
44 exstrophy of bladder 10.0
45 lymphoma, non-hodgkin, familial 10.0
46 major affective disorder 8 10.0
47 major affective disorder 9 10.0
48 myelodysplastic syndrome 10.0
49 metabolic acidosis 10.0
50 autism spectrum disorder 10.0

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



Diseases related to Bart-Pumphrey Syndrome

Symptoms & Phenotypes for Bart-Pumphrey Syndrome

Human phenotypes related to Bart-Pumphrey Syndrome:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
2 subcutaneous nodule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001482
3 leukonychia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001820
4 palmoplantar keratoderma 58 31 frequent (33%) Frequent (79-30%) HP:0000982
5 hearing impairment 31 HP:0000365
6 hyperkeratosis 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
Nails:
leukonychia

Ears:
cochlear deafness

Limbs:
knuckle pads

Skin:
keratosis palmaris et plantaris

Clinical features from OMIM:

149200

MGI Mouse Phenotypes related to Bart-Pumphrey Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.8 GJA1 GJB2 GJB3 GJB4 GJB6 GJC1
2 hearing/vestibular/ear MP:0005377 9.55 GJA1 GJB2 GJB3 GJB6 GJC3
3 immune system MP:0005387 9.5 GJA1 GJB1 GJB2 GJB3 GJB4 GJB6
4 no phenotypic analysis MP:0003012 9.02 GJA1 GJB2 GJB3 GJB6 GJC1

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:

# Genetic test Affiliating Genes
1 Knuckle Pads, Deafness and Leukonychia Syndrome 29 GJB2

Anatomical Context for Bart-Pumphrey Syndrome

MalaCards organs/tissues related to Bart-Pumphrey Syndrome:

40
Skin

Publications for Bart-Pumphrey Syndrome

Articles related to Bart-Pumphrey Syndrome:

(show all 15)
# Title Authors PMID Year
1
G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome. 6 56 61
15952212 2005
2
Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. 6 56 61
15482471 2004
3
Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome. 56 61
8151643 1994
4
A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350). 6
10633135 2000
5
Knuckle pads, leukonychia, deafness, and keratosis palmoplantaris: report of a family. 56
138007 1976
6
Knuckle pads, leukonychia and deafness. A dominantly inherited syndrome. 56
6015974 1967
7
[KERATOSIS PALMARIS ET PLANTARIS WITH CONGENITAL DEAFNESS AND TOTAL LEUKONYCHIA]. 56
14046203 1963
8
G59S mutation in the GJB2 gene in a Chinese family with classic Vohwinkel syndrome. 61
30565282 2019
9
Heimler's syndrome: a close mimic of Bart-Pumphrey syndrome. 61
26519192 2016
10
Overview of skin diseases linked to connexin gene mutations. 61
23675785 2014
11
Report of a family with idiopathic knuckle pads and review of idiopathic and disease-associated knuckle pads. 61
24011277 2013
12
The role of connexins in ear and skin physiology - functional insights from disease-associated mutations. 61
22796187 2013
13
A family of Bart-Pumphrey syndrome. 61
22421650 2012
14
A family with leukonychia totalis. 61
20418990 2010
15
Connexin-26 mutations in deafness and skin disease. 61
19939300 2009

Variations for Bart-Pumphrey Syndrome

ClinVar genetic disease variations for Bart-Pumphrey Syndrome:

6 (show all 25) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GJB2 NM_004004.6(GJB2):c.109G>A (p.Val37Ile)SNV Pathogenic 17023 rs72474224 13:20763612-20763612 13:20189473-20189473
2 GJB2 NM_004004.6(GJB2):c.-23+1G>ASNV Pathogenic 17029 rs80338940 13:20766921-20766921 13:20192782-20192782
3 GJB2 NM_004004.6(GJB2):c.162C>A (p.Asn54Lys)SNV Pathogenic 17030 rs104894412 13:20763559-20763559 13:20189420-20189420
4 GJB2 NM_004004.6(GJB2):c.175G>A (p.Gly59Ser)SNV Pathogenic 17034 rs104894410 13:20763546-20763546 13:20189407-20189407
5 GJB2 NM_004004.6(GJB2):c.1A>G (p.Met1Val)SNV Pathogenic 44729 rs111033293 13:20763720-20763720 13:20189581-20189581
6 GJB2 NM_004004.6(GJB2):c.101T>C (p.Met34Thr)SNV Pathogenic 17000 rs35887622 13:20763620-20763620 13:20189481-20189481
7 GJB2 NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)SNV Pathogenic 17001 rs80338944 13:20763490-20763490 13:20189351-20189351
8 GJB2 NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)SNV Pathogenic 17002 rs104894396 13:20763650-20763650 13:20189511-20189511
9 GJB2 NM_004004.6(GJB2):c.35del (p.Gly12fs)deletion Pathogenic 17004 rs80338939 13:20763686-20763686 13:20189547-20189547
10 GJB2 NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)SNV Pathogenic 17005 rs104894398 13:20763582-20763582 13:20189443-20189443
11 GJB2 NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)SNV Pathogenic 17009 rs80338948 13:20763294-20763294 13:20189155-20189155
12 GJB2 NM_004004.6(GJB2):c.167del (p.Leu56fs)deletion Pathogenic 17010 rs80338942 13:20763554-20763554 13:20189415-20189415
13 GJB2 NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)SNV Pathogenic 44763 rs111033294 13:20763104-20763104 13:20188965-20188965
14 GJB2 NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr)SNV Pathogenic 265481 rs774518779 13:20763215-20763215 13:20189076-20189076
15 GJB2 NM_004004.6(GJB2):c.379C>T (p.Arg127Cys)SNV Pathogenic/Likely pathogenic 163514 rs727503066 13:20763342-20763342 13:20189203-20189203
16 GJB2 NM_004004.6(GJB2):c.94C>A (p.Arg32Ser)SNV Pathogenic/Likely pathogenic 550195 rs371024165 13:20763627-20763627 13:20189488-20189488
17 GJB2 NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)SNV Pathogenic/Likely pathogenic 188830 rs104894413 13:20763590-20763590 13:20189451-20189451
18 GJB2 NM_004004.6(GJB2):c.283G>A (p.Val95Met)SNV Pathogenic/Likely pathogenic 44735 rs111033299 13:20763438-20763438 13:20189299-20189299
19 GJB2 NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)SNV Likely pathogenic 44740 rs104894408 13:20763687-20763687 13:20189548-20189548
20 GJB2 NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)SNV Conflicting interpretations of pathogenicity 44749 rs76434661 13:20763305-20763305 13:20189166-20189166
21 GJB2 NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)SNV Conflicting interpretations of pathogenicity 17016 rs80338945 13:20763452-20763452 13:20189313-20189313
22 GJB2 NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)SNV Conflicting interpretations of pathogenicity 17007 rs80338950 13:20763170-20763170 13:20189031-20189031
23 GJB2 NM_004004.6(GJB2):c.663G>C (p.Lys221Asn)SNV Uncertain significance 44764 rs375599392 13:20763058-20763058 13:20188919-20188919
24 GJB2 NM_004004.6(GJB2):c.670A>C (p.Lys224Gln)SNV Uncertain significance 44765 rs111033194 13:20763051-20763051 13:20188912-20188912
25 GJB2 NM_004004.6(GJB2):c.188T>C (p.Val63Ala)SNV Uncertain significance 177751 rs727504309 13:20763533-20763533 13:20189394-20189394

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

73
# Symbol AA change Variation ID SNP ID
1 GJB2 p.Asn54Lys VAR_032750 rs104894412
2 GJB2 p.Gly59Ser VAR_032751 rs104894410

Expression for Bart-Pumphrey Syndrome

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

Pathways for Bart-Pumphrey Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.96 GJC1 GJB6 GJB5 GJB4 GJB3 GJB2
2
Show member pathways
12.63 GJC1 GJB6 GJB5 GJB4 GJB3 GJB2
3
Show member pathways
12.17 GJC1 GJB3 GJB2 GJB1 GJA1
4
Show member pathways
12.05 GJC1 GJB6 GJB5 GJB4 GJB3 GJB2
5
Show member pathways
11.22 GJC1 GJB6 GJB5 GJB4 GJB3 GJB2
6
Show member pathways
10.45 GJB2 GJB1 GJA1

GO Terms for Bart-Pumphrey Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.09 GJC3 GJC1 GJB6 GJB5 GJB4 GJB3
2 integral component of membrane GO:0016021 9.97 GJC3 GJC1 GJB6 GJB5 GJB4 GJB3
3 plasma membrane GO:0005886 9.91 GJC3 GJC1 GJB6 GJB5 GJB4 GJB3
4 cell junction GO:0030054 9.81 GJC3 GJC1 GJB6 GJB5 GJB4 GJB3
5 connexin complex GO:0005922 9.61 GJC3 GJC1 GJB6 GJB5 GJB4 GJB3
6 lateral plasma membrane GO:0016328 9.4 GJB2 GJB1
7 intercalated disc GO:0014704 9.37 GJC1 GJA1
8 gap junction GO:0005921 9.28 GJC3 GJC1 GJB6 GJB5 GJB4 GJB3

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.91 GJC3 GJC1 GJB6 GJB5 GJB4 GJB3
2 response to lipopolysaccharide GO:0032496 9.67 GJB6 GJB2 GJA1
3 sensory perception of sound GO:0007605 9.65 GJC3 GJB6 GJB2
4 epididymis development GO:1905867 9.62 GJB5 GJB2 GJB1 GJA1
5 cell-cell signaling GO:0007267 9.61 GJC3 GJC1 GJB6 GJB5 GJB4 GJB3
6 cell communication by electrical coupling GO:0010644 9.58 GJB6 GJB2 GJA1
7 response to ischemia GO:0002931 9.56 GJB2 GJA1
8 inner ear development GO:0048839 9.55 GJB6 GJB2
9 gap junction assembly GO:0016264 9.55 GJC1 GJB6 GJB2 GJB1 GJA1
10 response to retinoic acid GO:0032526 9.54 GJB2 GJA1
11 gap junction-mediated intercellular transport GO:1990349 9.54 GJB6 GJB4 GJB2
12 maintenance of permeability of blood-brain barrier GO:0035633 9.52 GJB6 GJA1
13 decidualization GO:0046697 9.51 GJB2 GJA1
14 atrial cardiac muscle cell action potential GO:0086014 9.46 GJC1 GJA1
15 AV node cell to bundle of His cell communication by electrical coupling GO:0086053 9.43 GJC3 GJC1
16 cell communication GO:0007154 9.28 GJC3 GJC1 GJB6 GJB5 GJB4 GJB3

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

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 9.28 GJC3 GJC1 GJB6 GJB5 GJB4 GJB3
2 gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling GO:0086077 9.16 GJC3 GJC1
3 gap junction channel activity involved in cell communication by electrical coupling GO:1903763 9.13 GJB6 GJB2 GJA1

Sources for Bart-Pumphrey Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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