Aliases & Classifications for Knuckle Pads

MalaCards integrated aliases for Knuckle Pads:

Name: Knuckle Pads 58 56

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
knuckle pads:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 149100
ICD10 34 M72.1
MedGen 43 C0264000
SNOMED-CT via HPO 70 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 subcutaneous nodule and abnormality of the skeletal system

Wikipedia : 77 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 50)
# Related Disease Score Top Affiliating Genes
1 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 34.5 CAST ERAP1
2 knuckle pads, leukonychia, and sensorineural deafness 33.5 GJA1 GJB2 GJB4 GJB6
3 palmoplantar keratosis 30.8 GJB2 GJB3 KRT9
4 sensorineural hearing loss 30.1 GJB2 GJB3 GJB6
5 keratosis 30.1 GJA1 GJB2 KRT9
6 pseudoainhum 28.8 GJA1 GJB2 GJB3 GJB4 GJB6
7 knuckle pads, leuconychia and sensorineural deafness 12.8
8 camptodactyly 1 11.7
9 palmoplantar keratoderma, epidermolytic 11.7
10 dupuytren contracture 11.3
11 keratoderma, palmoplantar, with deafness 11.3
12 ledderhose disease 11.3
13 unna-thost palmoplantar keratoderma 11.3
14 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
15 ainhum 10.2 GJA1 GJB2
16 deafness, autosomal dominant 24 10.1 GJB2 GJB6
17 obsessive-compulsive disorder 10.1
18 pseudoxanthoma elasticum 10.1
19 granuloma annulare 10.1
20 cheilitis 10.1
21 deafness, x-linked 2 10.1 GJB2 GJB6
22 dfnb1 10.1 GJB2 GJB6
23 vohwinkel syndrome 10.1 GJB2 GJB6
24 deafness, autosomal recessive 23 10.1 GJB2 GJB6
25 congenital cytomegalovirus 10.1 GJB2 GJB6
26 deafness, autosomal recessive 93 10.1 GJB2 GJB3
27 deafness, autosomal recessive 28 10.1 GJB2 GJB3
28 deafness, autosomal dominant 2a 10.1 GJB2 GJB6
29 deafness, autosomal recessive 16 10.0 GJB2 GJB6
30 deafness, autosomal recessive 67 10.0 GJB2 GJB3
31 deafness, autosomal dominant 3a 10.0 GJB2 GJB4
32 pachyonychia congenita 1 9.9 GJB6 KRT9
33 drug-induced hearing loss 9.9 GJB2 GJB3
34 keratitis, hereditary 9.9 GJB2 GJB6
35 hodgkin's lymphoma, nodular sclerosis 9.8 GJB2 GJB3 GJB6
36 vestibular disease 9.8 GJB2 GJB3 GJB6
37 inner ear disease 9.8 GJB2 GJB3 GJB6
38 auditory system disease 9.8 GJB2 GJB3 GJB6
39 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.8 GJB2 GJB3 GJB6
40 corneal disease 9.8 GJB2 GJB6
41 oculodentodigital dysplasia 9.7 GJA1 GJB2 GJB4
42 hypotrichosis-deafness syndrome 9.6 GJB2 GJB3 GJB4
43 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 9.6 GJB2 GJB3 GJB4
44 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.5 GJA1 GJB2 GJB3 GJB6
45 nonsyndromic deafness 9.5 GJA1 GJB2 GJB3 GJB6
46 kid syndrome 9.3 GJB2 GJB3 GJB4 GJB6
47 deafness, autosomal recessive 1a 9.3 GJB2 GJB3 GJB4 GJB6
48 erythrokeratodermia variabilis et progressiva 1 9.1 GJA1 GJB2 GJB3 GJB4 GJB6
49 clouston syndrome 9.0 GJA1 GJB2 GJB3 GJB4 GJB6
50 skin disease 8.8 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

Human phenotypes related to Knuckle Pads:

33
# Description HPO Frequency HPO Source Accession
1 subcutaneous nodule 33 HP:0001482
2 abnormality of the skeletal system 33 HP:0000924

Symptoms via clinical synopsis from OMIM:

58
Limbs:
knuckle pads
subcutaneous nodules on the dorsum of proximal interphalangeal joints

Clinical features from OMIM:

149100

MGI Mouse Phenotypes related to Knuckle Pads:

47
# 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:

42
Skin

Publications for Knuckle Pads

Articles related to Knuckle Pads:

(show top 50) (show all 54)
# Title Authors Year
1
A novel treatment for idiopathic knuckle pads with cantharidin-podophylotoxin-salicylic acid. ( 30883856 )
2019
2
Acrokeratoelastoidosis and knuckle pads coexisting in a child. ( 30566539 )
2018
3
Imaging Features of Knuckle Pads. ( 30151469 )
2016
4
Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads. ( 25683118 )
2015
5
Camptodactyly and knuckle pads coexisting in an adolescent boy: connection or coincidence? ( 25781058 )
2015
6
Frequency of metabolic syndrome in patients with knuckle pads. ( 26119428 )
2015
7
Report of a family with idiopathic knuckle pads and review of idiopathic and disease-associated knuckle pads. ( 24011277 )
2013
8
Case of epidermolytic palmoplantar keratoderma with knuckle pads. ( 21463360 )
2012
9
G59A mutation in the GJB2 gene in a Taiwanese family with knuckle pads, palmoplantar keratoderma and sensorineural hearing loss. ( 22007731 )
2012
10
Knuckle pads - a rare finding. ( 26672439 )
2012
11
Granuloma annulare mimicking dorsal knuckle pads. ( 21489722 )
2011
12
Images in clinical medicine. Knuckle pads. ( 21696311 )
2011
13
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
14
Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family. ( 17362238 )
2009
15
Knuckle pads, in an epidermal palmoplantar keratoderma patient with Keratin 9 R163W transgrediens expression. ( 19106041 )
2009
16
Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss. ( 19416251 )
2009
17
Mutation of keratin 9 (R163W) in a family with epidermolytic palmoplantar keratoderma and knuckle pads. ( 17074468 )
2007
18
A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads. ( 17255958 )
2007
19
An 11-year-old girl with knuckle plaques. Knuckle pads. ( 17824272 )
2007
20
A novel treatment for knuckle pads with intralesional Fluorouracil. ( 18025384 )
2007
21
Knuckle pads associated with clubbed fingers. ( 18078411 )
2007
22
Ultrasound appearance of knuckle pads. ( 16688449 )
2006
23
Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation. ( 15635064 )
2005
24
Pachydermodactyly: a forme fruste of knuckle pads? ( 12752190 )
2003
25
A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads. ( 12838553 )
2003
26
Pseudo-knuckle pads: an unusual cutaneous sign of obsessive-compulsive disorder in an adolescent patient. ( 14768804 )
2003
27
Degenerative collagenous plaques of the hands and acrokeratoelastoidosis: pathogenesis and relationship with knuckle pads. ( 10944086 )
2000
28
Knuckle pads: does knuckle cracking play an etiologic role? ( 11123776 )
2000
29
Knuckle pads from boxing. ( 9683870 )
1998
30
The contractility of knuckle pads. An in vitro study. ( 9061542 )
1997
31
Knuckle pads, leukonychia and deafness. ( 8891825 )
1996
32
Knuckle pads--a forgotten skin condition: report of a case and review of the literature. ( 8727774 )
1996
33
Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome. ( 8151643 )
1994
34
Knuckle pads. ( 7813233 )
1994
35
Papules and plaques over the joint spaces. Knuckle pads (heloderma). ( 8352610 )
1993
36
Epidemiological and structural findings supporting the fibromatous origin of dorsal knuckle pads. ( 1960489 )
1991
37
Knuckle pads in live-chicken hangers. ( 2958209 )
1987
38
Knuckle pads. ( 3443475 )
1986
39
Knuckle pads in children. ( 2943155 )
1986
40
Knuckle pads. ( 28164912 )
1985
41
Some observations on knuckle pads. ( 6707508 )
1984
42
Knuckle pads causing extensor tendon tethering. ( 6693470 )
1984
43
Primary knuckle pads. ( 509767 )
1979
44
Knuckle pads in Dupuytren's disease. ( 608634 )
1977
45
Knuckle pads, leukonychia, deafness, and keratosis palmoplantaris: report of a family. ( 138007 )
1976
46
Pathology of "knuckle pads". Study of four cases. ( 804749 )
1975
47
Knuckle pads. ( 4521078 )
1973
48
Peculiarities in dermatology. A case of knuckle pads. ( 5483672 )
1970
49
Knuckle pads, leukonychia and deafness. A dominantly inherited syndrome. ( 6015974 )
1967
50
Knuckle pads and similar-looking disorders. ( 6014646 )
1966

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 inner ear development GO:0048839 9.46 GJB2 GJB6
2 response to retinoic acid GO:0032526 9.43 GJA1 GJB2
3 response to lipopolysaccharide GO:0032496 9.43 GJA1 GJB2 GJB6
4 response to ischemia GO:0002931 9.4 GJA1 GJB2
5 skin development GO:0043588 9.37 GJB3 KRT9
6 decidualization GO:0046697 9.32 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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