Aliases & Classifications for Knuckle Pads

MalaCards integrated aliases for Knuckle Pads:

Name: Knuckle Pads 57 55

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
knuckle pads:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 149100
MedGen 42 C0264000
ICD10 33 M72.1
SNOMED-CT via HPO 69 263681008 95325000

Summaries for Knuckle Pads

MalaCards based summary : Knuckle Pads is related to peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads and knuckle pads, leukonychia, and sensorineural deafness. An important gene associated with Knuckle Pads is KRT9 (Keratin 9), and among its related pathways/superpathways are Vesicle-mediated transport and G-Beta Gamma Signaling. Affiliated tissues include skin, and related phenotypes are abnormality of the skeletal system and subcutaneous nodule

Wikipedia : 76 Knuckle pads (also known as \"Heloderma\", meaning similar to the skin of the Gila monster lizard for... more...

Description from OMIM: 149100

Related Diseases for Knuckle Pads

Diseases related to Knuckle Pads via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 34.3 CAST ERAP1
2 knuckle pads, leukonychia, and sensorineural deafness 32.3 GJA1 GJB2 GJB4 GJB6
3 palmoplantar keratosis 30.5 GJB2 GJB3 KRT9
4 sensorineural hearing loss 29.6 GJB2 GJB3 GJB6
5 pseudoainhum 27.1 GJA1 GJB2 GJB3 GJB4 GJB6
6 knuckle pads, leuconychia and sensorineural deafness 12.4
7 camptodactyly 1 11.5
8 palmoplantar keratoderma, epidermolytic 11.5
9 dupuytren contracture 11.1
10 keratoderma, palmoplantar, with deafness 11.1
11 ledderhose disease 11.1
12 unna-thost palmoplantar keratoderma 11.1
13 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
14 deafness, autosomal dominant 24 10.3 GJB2 GJB6
15 ainhum 10.3 GJA1 GJB2
16 congenital cytomegalovirus 10.2 GJB2 GJB6
17 deafness, x-linked 2 10.2 GJB2 GJB6
18 dfnb1 10.2 GJB2 GJB6
19 vohwinkel syndrome 10.2 GJB2 GJB6
20 deafness, autosomal recessive 93 10.1 GJB2 GJB3
21 deafness, autosomal recessive 23 10.1 GJB2 GJB6
22 deafness, autosomal recessive 28 10.1 GJB2 GJB3
23 deafness, autosomal dominant 2a 10.1 GJB2 GJB6
24 deafness, autosomal recessive 16 10.1 GJB2 GJB6
25 granuloma annulare 10.0
26 cheilitis 10.0
27 pachyonychia congenita 1 10.0 GJB6 KRT9
28 deafness, autosomal recessive 67 9.9 GJB2 GJB3
29 deafness, autosomal dominant 3a 9.9 GJB2 GJB4
30 keratitis, hereditary 9.9 GJB2 GJB6
31 keratosis 9.9 GJA1 GJB2 KRT9
32 corneal disease 9.8 GJB2 GJB6
33 hodgkin's lymphoma, nodular sclerosis 9.6 GJB2 GJB3 GJB6
34 vestibular disease 9.6 GJB2 GJB3 GJB6
35 autosomal dominant non-syndromic sensorineural deafness type dfna 9.6 GJB2 GJB3 GJB6
36 inner ear disease 9.6 GJB2 GJB3 GJB6
37 auditory system disease 9.6 GJB2 GJB3 GJB6
38 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.6 GJB2 GJB3 GJB6
39 autosomal dominant nonsyndromic deafness 9.4 GJB2 GJB3
40 oculodentodigital dysplasia 9.4 GJA1 GJB2 GJB4
41 hypotrichosis-deafness syndrome 9.3 GJB2 GJB3 GJB4
42 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 9.3 GJB2 GJB3 GJB4
43 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.0 GJA1 GJB2 GJB3 GJB6
44 nonsyndromic deafness 9.0 GJA1 GJB2 GJB3 GJB6
45 kid syndrome 8.7 GJB2 GJB3 GJB4 GJB6
46 deafness, autosomal recessive 1a 8.7 GJB2 GJB3 GJB4 GJB6
47 erythrokeratodermia variabilis et progressiva 1 8.1 GJA1 GJB2 GJB3 GJB4 GJB6
48 clouston syndrome 8.1 GJA1 GJB2 GJB3 GJB4 GJB6
49 skin disease 7.6 GJA1 GJB2 GJB3 GJB4 GJB6 KRT9

Graphical network of the top 20 diseases related to Knuckle Pads:



Diseases related to Knuckle Pads

Symptoms & Phenotypes for Knuckle Pads

Symptoms via clinical synopsis from OMIM:

57
Limbs:
knuckle pads
subcutaneous nodules on the dorsum of proximal interphalangeal joints


Clinical features from OMIM:

149100

Human phenotypes related to Knuckle Pads:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of the skeletal system 32 HP:0000924
2 subcutaneous nodule 32 HP:0001482

MGI Mouse Phenotypes related to Knuckle Pads:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.63 CAST ERAP1 GJA1 GJB2 GJB3 GJB6
2 integument MP:0010771 9.35 CAST GJA1 GJB2 GJB3 GJB6
3 no phenotypic analysis MP:0003012 9.02 ERAP1 GJA1 GJB2 GJB3 GJB6

Drugs & Therapeutics for Knuckle Pads

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dupuytren's Disease and Extracorporeal Shockwave Therapy (DupuyShock-2010) Unknown status NCT01184586 Phase 2

Search NIH Clinical Center for Knuckle Pads

Genetic Tests for Knuckle Pads

Anatomical Context for Knuckle Pads

MalaCards organs/tissues related to Knuckle Pads:

41
Skin

Publications for Knuckle Pads

Articles related to Knuckle Pads:

(show all 26)
# Title Authors Year
1
Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads. ( 25683118 )
2015
2
Frequency of metabolic syndrome in patients with knuckle pads. ( 26119428 )
2015
3
Camptodactyly and knuckle pads coexisting in an adolescent boy: connection or coincidence? ( 25781058 )
2015
4
Report of a family with idiopathic knuckle pads and review of idiopathic and disease-associated knuckle pads. ( 24011277 )
2013
5
Case of epidermolytic palmoplantar keratoderma with knuckle pads. ( 21463360 )
2012
6
G59A mutation in the GJB2 gene in a Taiwanese family with knuckle pads, palmoplantar keratoderma and sensorineural hearing loss. ( 22007731 )
2012
7
Knuckle pads - a rare finding. ( 26672439 )
2012
8
A novel mutation within the 2B rod domain of keratin 9 in a Chinese pedigree with epidermolytic palmoplantar keratoderma combined with knuckle pads and camptodactyly. ( 21715251 )
2011
9
Images in clinical medicine. Knuckle pads. ( 21696311 )
2011
10
Granuloma annulare mimicking dorsal knuckle pads. ( 21489722 )
2011
11
VAPrner type palmoplantar keratoderma: novel KRT9 mutation associated with knuckle pad-like lesions and recurrent mutation causing digital mutilation. ( 21410681 )
2011
12
Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss. ( 19416251 )
2009
13
Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression. ( 19106041 )
2009
14
Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family. ( 17362238 )
2009
15
A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads. ( 17255958 )
2007
16
A novel treatment for knuckle pads with intralesional Fluorouracil. ( 18025384 )
2007
17
An 11-year-old girl with knuckle plaques. Knuckle pads. ( 17824272 )
2007
18
Knuckle pads associated with clubbed fingers. ( 18078411 )
2007
19
Mutation of keratin 9 (R163W) in a family with epidermolytic palmoplantar keratoderma and knuckle pads. ( 17074468 )
2007
20
Ultrasound appearance of knuckle pads. ( 16688449 )
2006
21
The common KRT9 gene mutation in a Japanese patient with epidermolytic palmoplantar keratoderma and knuckle pad-like keratoses. ( 16043929 )
2005
22
Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation. ( 15635064 )
2005
23
A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads. ( 12838553 )
2003
24
Knuckle pad-like keratoderma: a new cutaneous side reaction induced by tegafur. ( 9585908 )
1998
25
Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome. ( 8151643 )
1994
26
Hereditary epidermolytic palmoplantar keratoderma with knuckle pad-like lesions over the finger joints. ( 1751358 )
1991

Variations for Knuckle Pads

Expression for Knuckle Pads

Search GEO for disease gene expression data for Knuckle Pads.

Pathways for Knuckle Pads

GO Terms for Knuckle Pads

Cellular components related to Knuckle Pads according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.86 CAST ERAP1 GJA1 GJB2 GJB3 GJB4
2 cell junction GO:0030054 9.55 GJA1 GJB2 GJB3 GJB4 GJB6
3 gap junction GO:0005921 9.35 GJA1 GJB2 GJB3 GJB4 GJB6
4 lateral plasma membrane GO:0016328 9.32 GJA1 GJB2
5 connexin complex GO:0005922 9.02 GJA1 GJB2 GJB3 GJB4 GJB6

Biological processes related to Knuckle Pads according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.61 ERAP1 GJA1 GJB2
2 response to lipopolysaccharide GO:0032496 9.5 GJA1 GJB2 GJB6
3 inner ear development GO:0048839 9.46 GJB2 GJB6
4 skin development GO:0043588 9.4 GJB3 KRT9
5 response to retinoic acid GO:0032526 9.37 GJA1 GJB2
6 decidualization GO:0046697 9.26 GJA1 GJB2
7 gap junction assembly GO:0016264 9.16 GJA1 GJB2
8 cell communication GO:0007154 9.02 GJA1 GJB2 GJB3 GJB4 GJB6
9 epididymis development GO:1905867 8.96 GJA1 GJB2

Molecular functions related to Knuckle Pads according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.8 GJA1 GJB2 GJB3

Sources for Knuckle Pads

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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