MCID: KNC004
MIFTS: 39

Knuckle Pads, Leukonychia, and Sensorineural Deafness

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

Aliases & Classifications for Knuckle Pads, Leukonychia, and Sensorineural Deafness

MalaCards integrated aliases for Knuckle Pads, Leukonychia, and Sensorineural Deafness:

Name: Knuckle Pads, Leukonychia, and Sensorineural Deafness 57 12 25
Bart-Pumphrey Syndrome 57 12 25 59 75 37 13 15
Knuckle Pads, Deafness and Leukonychia Syndrome 29 6 40
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome 59
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Keratoderma Syndrome 59
Knuckle Pads, Leuconychia and Sensorineural Deafness 73
Knuckle Pads, Deafness, and Leukonychia Syndrome 25
Knuckle Pads-Leukonychia-Sensorineural Deafness 75
Bps 75

Characteristics:

Orphanet epidemiological data:

59
knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
knuckle pads, leukonychia, and sensorineural deafness:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 149200
Disease Ontology 12 DOID:0050658
Orphanet 59 ORPHA2698
UMLS via Orphanet 74 C0266004
ICD10 via Orphanet 34 Q82.8
MedGen 42 C0266004
KEGG 37 H00706
UMLS 73 C0266004

Summaries for Knuckle Pads, Leukonychia, and Sensorineural Deafness

UniProtKB/Swiss-Prot : 75 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 : Knuckle Pads, Leukonychia, and Sensorineural Deafness, also known as bart-pumphrey syndrome, is related to knuckle pads and knuckle pads, leuconychia and sensorineural deafness. An important gene associated with Knuckle Pads, Leukonychia, and Sensorineural Deafness 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 leukonychia and sensorineural hearing impairment

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

Description from OMIM: 149200

Related Diseases for Knuckle Pads, Leukonychia, and Sensorineural Deafness

Diseases related to Knuckle Pads, Leukonychia, and Sensorineural Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 knuckle pads 28.1 GJA1 GJB2 GJB4 GJB6
2 knuckle pads, leuconychia and sensorineural deafness 11.7
3 ainhum 10.2 GJA1 GJB2
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
5 leukonychia totalis 10.1 GJA1 PLCD1
6 deafness, autosomal dominant 24 10.1 GJB2 GJB6
7 congenital cytomegalovirus 10.1 GJB2 GJB6
8 deafness, x-linked 2 10.1 GJB2 GJB6
9 hodgkin's lymphoma, nodular sclerosis 10.0 GJB2 GJB6
10 dfnb1 10.0 GJB2 GJB6
11 vohwinkel syndrome 10.0 GJB2 GJB6
12 deafness, autosomal recessive 23 10.0 GJB2 GJB6
13 vestibular disease 10.0 GJB2 GJB6
14 deafness, autosomal dominant 2a 10.0 GJB2 GJB6
15 deafness, autosomal recessive 16 9.9 GJB2 GJB6
16 autosomal dominant non-syndromic sensorineural deafness type dfna 9.9 GJB2 GJB6
17 inner ear disease 9.9 GJB2 GJB6
18 auditory system disease 9.9 GJB2 GJB6
19 hypotrichosis-deafness syndrome 9.9 GJB2 GJB4
20 deafness, autosomal dominant 3a 9.8 GJB2 GJB4
21 keratitis, hereditary 9.8 GJB2 GJB6
22 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.8 GJB2 GJB6
23 keratosis 9.8 GJA1 GJB2
24 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 9.8 GJB2 GJB4
25 corneal disease 9.7 GJB2 GJB6
26 hypotrichosis 9.7 GJA1 GJB2
27 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.5 GJA1 GJB2 GJB6
28 nonsyndromic deafness 9.4 GJA1 GJB2 GJB6
29 sensorineural hearing loss 9.3 GJB2 GJB6
30 oculodentodigital dysplasia 9.3 GJA1 GJB2 GJB4
31 kid syndrome 9.2 GJB2 GJB4 GJB6
32 deafness, autosomal recessive 1a 9.1 GJB2 GJB4 GJB6
33 pseudoainhum 8.5 GJA1 GJB2 GJB4 GJB6
34 erythrokeratodermia variabilis et progressiva 1 8.5 GJA1 GJB2 GJB4 GJB6
35 clouston syndrome 8.5 GJA1 GJB2 GJB4 GJB6
36 skin disease 8.5 GJA1 GJB2 GJB4 GJB6

Graphical network of the top 20 diseases related to Knuckle Pads, Leukonychia, and Sensorineural Deafness:



Diseases related to Knuckle Pads, Leukonychia, and Sensorineural Deafness

Symptoms & Phenotypes for Knuckle Pads, Leukonychia, and Sensorineural Deafness

Symptoms via clinical synopsis from OMIM:

57
Limbs:
knuckle pads

Ears:
cochlear deafness

Nails:
leukonychia

Skin:
keratosis palmaris et plantaris


Clinical features from OMIM:

149200

Human phenotypes related to Knuckle Pads, Leukonychia, and Sensorineural Deafness:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 leukonychia 59 32 Very frequent (99-80%) HP:0001820
2 sensorineural hearing impairment 59 Very frequent (99-80%)
3 hyperkeratosis 59 Very frequent (99-80%)
4 palmoplantar keratoderma 59 Frequent (79-30%)
5 subcutaneous nodule 59 Very frequent (99-80%)
6 hearing impairment 32 HP:0000365

MGI Mouse Phenotypes related to Knuckle Pads, Leukonychia, and Sensorineural Deafness:

46
# 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 GJB2 GJB6 PLCD1 GJA1
3 reproductive system MP:0005389 8.92 GJA1 GJB2 GJB4 PLCD1

Drugs & Therapeutics for Knuckle Pads, Leukonychia, and Sensorineural Deafness

Search Clinical Trials , NIH Clinical Center for Knuckle Pads, Leukonychia, and Sensorineural Deafness

Genetic Tests for Knuckle Pads, Leukonychia, and Sensorineural Deafness

Genetic tests related to Knuckle Pads, Leukonychia, and Sensorineural Deafness:

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

Anatomical Context for Knuckle Pads, Leukonychia, and Sensorineural Deafness

MalaCards organs/tissues related to Knuckle Pads, Leukonychia, and Sensorineural Deafness:

41
Skin

Publications for Knuckle Pads, Leukonychia, and Sensorineural Deafness

Articles related to Knuckle Pads, Leukonychia, and Sensorineural Deafness:

# 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 Knuckle Pads, Leukonychia, and Sensorineural Deafness

UniProtKB/Swiss-Prot genetic disease variations for Knuckle Pads, Leukonychia, and Sensorineural Deafness:

75
# 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 Knuckle Pads, Leukonychia, and Sensorineural Deafness:

6
(show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 GJB2 NM_004004.5(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh37 Chromosome 13, 20763650: 20763650
2 GJB2 NM_004004.5(GJB2): c.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh38 Chromosome 13, 20189511: 20189511
3 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
4 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh38 Chromosome 13, 20189547: 20189547
5 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh37 Chromosome 13, 20763582: 20763582
6 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh38 Chromosome 13, 20189443: 20189443
7 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh37 Chromosome 13, 20763294: 20763294
8 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh38 Chromosome 13, 20189155: 20189155
9 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh37 Chromosome 13, 20763452: 20763452
10 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh38 Chromosome 13, 20189313: 20189313
11 GJB2 NM_004004.5(GJB2): c.162C> A (p.Asn54Lys) single nucleotide variant Pathogenic rs104894412 GRCh37 Chromosome 13, 20763559: 20763559
12 GJB2 NM_004004.5(GJB2): c.162C> A (p.Asn54Lys) single nucleotide variant Pathogenic rs104894412 GRCh38 Chromosome 13, 20189420: 20189420
13 GJB2 NM_004004.5(GJB2): c.175G> A (p.Gly59Ser) single nucleotide variant Pathogenic rs104894410 GRCh37 Chromosome 13, 20763546: 20763546
14 GJB2 NM_004004.5(GJB2): c.175G> A (p.Gly59Ser) single nucleotide variant Pathogenic rs104894410 GRCh38 Chromosome 13, 20189407: 20189407
15 GJB2 NM_004004.5(GJB2): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic/Likely pathogenic rs111033299 GRCh37 Chromosome 13, 20763438: 20763438
16 GJB2 NM_004004.5(GJB2): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic/Likely pathogenic rs111033299 GRCh38 Chromosome 13, 20189299: 20189299
17 GJB2 NM_004004.5(GJB2): c.416G> A (p.Ser139Asn) single nucleotide variant Pathogenic/Likely pathogenic rs76434661 GRCh37 Chromosome 13, 20763305: 20763305
18 GJB2 NM_004004.5(GJB2): c.416G> A (p.Ser139Asn) single nucleotide variant Pathogenic/Likely pathogenic rs76434661 GRCh38 Chromosome 13, 20189166: 20189166
19 GJB2 NM_004004.5(GJB2): c.617A> G (p.Asn206Ser) single nucleotide variant Pathogenic rs111033294 GRCh37 Chromosome 13, 20763104: 20763104
20 GJB2 NM_004004.5(GJB2): c.617A> G (p.Asn206Ser) single nucleotide variant Pathogenic rs111033294 GRCh38 Chromosome 13, 20188965: 20188965
21 GJB2 NM_004004.5(GJB2): c.131G> A (p.Trp44Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894413 GRCh38 Chromosome 13, 20189451: 20189451
22 GJB2 NM_004004.5(GJB2): c.131G> A (p.Trp44Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894413 GRCh37 Chromosome 13, 20763590: 20763590

Expression for Knuckle Pads, Leukonychia, and Sensorineural Deafness

Search GEO for disease gene expression data for Knuckle Pads, Leukonychia, and Sensorineural Deafness.

Pathways for Knuckle Pads, Leukonychia, and Sensorineural Deafness

GO Terms for Knuckle Pads, Leukonychia, and Sensorineural Deafness

Cellular components related to Knuckle Pads, Leukonychia, and Sensorineural Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.72 GJA1 GJB2 GJB4 GJB6 PLCD1
2 cell junction GO:0030054 9.46 GJA1 GJB2 GJB4 GJB6
3 lateral plasma membrane GO:0016328 9.26 GJA1 GJB2
4 gap junction GO:0005921 9.26 GJA1 GJB2 GJB4 GJB6
5 connexin complex GO:0005922 8.92 GJA1 GJB2 GJB4 GJB6

Biological processes related to Knuckle Pads, Leukonychia, and Sensorineural Deafness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 aging GO:0007568 9.46 GJB2 GJB6
2 sensory perception of sound GO:0007605 9.43 GJB2 GJB6
3 response to lipopolysaccharide GO:0032496 9.43 GJA1 GJB2 GJB6
4 inner ear development GO:0048839 9.4 GJB2 GJB6
5 response to retinoic acid GO:0032526 9.37 GJA1 GJB2
6 decidualization GO:0046697 9.32 GJA1 GJB2
7 gap junction assembly GO:0016264 9.16 GJA1 GJB2
8 epididymis development GO:1905867 8.96 GJA1 GJB2
9 cell communication GO:0007154 8.92 GJA1 GJB2 GJB4 GJB6

Molecular functions related to Knuckle Pads, Leukonychia, and Sensorineural Deafness according to GeneCards Suite gene sharing:

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

Sources for Knuckle Pads, Leukonychia, and Sensorineural Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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