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 subcutaneous nodule and abnormality of the skeletal system

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 top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads 34.2 ERAP1 CAST
2 knuckle pads, leukonychia, and sensorineural deafness 33.7 GJB6 GJB4 GJB2 GJA1
3 palmoplantar keratosis 30.9 KRT9 GJB3 GJB2
4 sensorineural hearing loss 30.3 GJB6 GJB3 GJB2
5 keratosis 30.1 KRT9 GJB2 GJA1
6 pseudoainhum 29.3 GJB6 GJB4 GJB3 GJB2 GJA1
7 knuckle pads, leuconychia and sensorineural deafness 12.6
8 camptodactyly 1 11.7
9 palmoplantar keratoderma, epidermolytic 11.6
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 10.1 GJB2 GJA1
16 obsessive-compulsive disorder 10.1
17 pseudoxanthoma elasticum 10.1
18 granuloma annulare 10.1
19 cheilitis 10.1
20 deafness, autosomal dominant 24 10.1 GJB6 GJB2
21 deafness, x-linked 2 10.1 GJB6 GJB2
22 dfnb1 10.1 GJB6 GJB2
23 vohwinkel syndrome 10.1 GJB6 GJB2
24 congenital cytomegalovirus 10.1 GJB6 GJB2
25 deafness, autosomal recessive 23 10.1 GJB6 GJB2
26 deafness, autosomal recessive 93 10.0 GJB3 GJB2
27 deafness, autosomal recessive 28 10.0 GJB3 GJB2
28 deafness, autosomal recessive 16 10.0 GJB6 GJB2
29 deafness, autosomal dominant 2a 10.0 GJB6 GJB2
30 deafness, autosomal recessive 67 10.0 GJB3 GJB2
31 pachyonychia congenita 1 10.0 KRT9 GJB6
32 deafness, autosomal dominant 3a 10.0 GJB4 GJB2
33 drug-induced hearing loss 10.0 GJB3 GJB2
34 keratitis, hereditary 10.0 GJB6 GJB2
35 corneal disease 9.9 GJB6 GJB2
36 hodgkin's lymphoma, nodular sclerosis 9.9 GJB6 GJB3 GJB2
37 vestibular disease 9.9 GJB6 GJB3 GJB2
38 inner ear disease 9.9 GJB6 GJB3 GJB2
39 auditory system disease 9.9 GJB6 GJB3 GJB2
40 deafness, autosomal recessive 4, with enlarged vestibular aqueduct 9.9 GJB6 GJB3 GJB2
41 autosomal dominant nonsyndromic deafness 9.8 GJB3 GJB2
42 oculodentodigital dysplasia 9.8 GJB4 GJB2 GJA1
43 hypotrichosis-deafness syndrome 9.8 GJB4 GJB3 GJB2
44 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma 9.8 GJB4 GJB3 GJB2
45 autosomal recessive non-syndromic sensorineural deafness type dfnb 9.7 GJB6 GJB3 GJB2 GJA1
46 nonsyndromic deafness 9.7 GJB6 GJB3 GJB2 GJA1
47 kid syndrome 9.6 GJB6 GJB4 GJB3 GJB2
48 deafness, autosomal recessive 1a 9.6 GJB6 GJB4 GJB3 GJB2
49 erythrokeratodermia variabilis et progressiva 1 9.4 GJB6 GJB4 GJB3 GJB2 GJA1
50 clouston syndrome 9.4 GJB6 GJB4 GJB3 GJB2 GJA1

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 subcutaneous nodule 32 HP:0001482
2 abnormality of the skeletal system 32 HP:0000924

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 top 50) (show all 52)
# Title Authors Year
1
Imaging Features of Knuckle Pads. ( 30151469 )
2016
2
Loss-of-function mutations in CAST cause peeling skin, leukonychia, acral punctate keratoses, cheilitis, and knuckle pads. ( 25683118 )
2015
3
Frequency of metabolic syndrome in patients with knuckle pads. ( 26119428 )
2015
4
Camptodactyly and knuckle pads coexisting in an adolescent boy: connection or coincidence? ( 25781058 )
2015
5
Report of a family with idiopathic knuckle pads and review of idiopathic and disease-associated knuckle pads. ( 24011277 )
2013
6
Case of epidermolytic palmoplantar keratoderma with knuckle pads. ( 21463360 )
2012
7
G59A mutation in the GJB2 gene in a Taiwanese family with knuckle pads, palmoplantar keratoderma and sensorineural hearing loss. ( 22007731 )
2012
8
Knuckle pads - a rare finding. ( 26672439 )
2012
9
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
10
Images in clinical medicine. Knuckle pads. ( 21696311 )
2011
11
Granuloma annulare mimicking dorsal knuckle pads. ( 21489722 )
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
Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation. ( 15635064 )
2005
22
A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads. ( 12838553 )
2003
23
Pachydermodactyly: a forme fruste of knuckle pads? ( 12752190 )
2003
24
Pseudo-knuckle pads: an unusual cutaneous sign of obsessive-compulsive disorder in an adolescent patient. ( 14768804 )
2003
25
Degenerative collagenous plaques of the hands and acrokeratoelastoidosis: pathogenesis and relationship with knuckle pads. ( 10944086 )
2000
26
Knuckle pads: does knuckle cracking play an etiologic role? ( 11123776 )
2000
27
Knuckle pads from boxing. ( 9683870 )
1998
28
The contractility of knuckle pads. An in vitro study. ( 9061542 )
1997
29
Knuckle pads--a forgotten skin condition: report of a case and review of the literature. ( 8727774 )
1996
30
Knuckle pads, leukonychia and deafness. ( 8891825 )
1996
31
Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome. ( 8151643 )
1994
32
Knuckle pads. ( 7813233 )
1994
33
Papules and plaques over the joint spaces. Knuckle pads (heloderma). ( 8352610 )
1993
34
Epidemiological and structural findings supporting the fibromatous origin of dorsal knuckle pads. ( 1960489 )
1991
35
Knuckle pads in live-chicken hangers. ( 2958209 )
1987
36
Knuckle pads in children. ( 2943155 )
1986
37
Knuckle pads. ( 3443475 )
1986
38
Knuckle pads. ( 28164912 )
1985
39
Knuckle pads causing extensor tendon tethering. ( 6693470 )
1984
40
Some observations on knuckle pads. ( 6707508 )
1984
41
Primary knuckle pads. ( 509767 )
1979
42
Knuckle pads in Dupuytren's disease. ( 608634 )
1977
43
Knuckle pads, leukonychia, deafness, and keratosis palmoplantaris: report of a family. ( 138007 )
1976
44
Pathology of "knuckle pads". Study of four cases. ( 804749 )
1975
45
Knuckle pads. ( 4521078 )
1973
46
Peculiarities in dermatology. A case of knuckle pads. ( 5483672 )
1970
47
Knuckle pads, leukonychia and deafness. A dominantly inherited syndrome. ( 6015974 )
1967
48
Knuckle pads. ( 5910872 )
1966
49
Knuckle pads and similar-looking disorders. ( 6014646 )
1966
50
Painful knuckle pads. ( 14465756 )
1961

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 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
Content
Loading form....