MCID: KNC001
MIFTS: 13

Knuckle Pads, Leuconychia and Sensorineural Deafness

Categories: Ear diseases, Rare diseases, Skin diseases

Aliases & Classifications for Knuckle Pads, Leuconychia and Sensorineural Deafness

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

Name: Knuckle Pads, Leuconychia and Sensorineural Deafness 52 71
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome 52
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Keratoderma Syndrome 52
Bart-Pumphrey Syndrome 52

Classifications:



External Ids:

UMLS 71 C0266004

Summaries for Knuckle Pads, Leuconychia and Sensorineural Deafness

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.

MalaCards based summary : Knuckle Pads, Leuconychia and Sensorineural Deafness, also known as knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome, is related to knuckle pads, leukonychia, and sensorineural deafness and keratoderma, palmoplantar, with deafness. Affiliated tissues include skin.

Related Diseases for Knuckle Pads, Leuconychia and Sensorineural Deafness

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 knuckle pads, leukonychia, and sensorineural deafness 11.8
2 keratoderma, palmoplantar, with deafness 11.6
3 knuckle pads 10.6
4 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.6
5 keratosis 10.5
6 palmoplantar keratosis 10.5
7 vohwinkel syndrome 10.4
8 dupuytren contracture 10.4
9 keratitis, hereditary 10.4
10 keratitis-ichthyosis-deafness syndrome, autosomal dominant 10.4
11 branchiootic syndrome 1 10.4
12 sensorineural hearing loss 10.4
13 ichthyosis 10.4

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



Diseases related to Knuckle Pads, Leuconychia and Sensorineural Deafness

Symptoms & Phenotypes for Knuckle Pads, Leuconychia and Sensorineural Deafness

Drugs & Therapeutics for Knuckle Pads, Leuconychia and Sensorineural Deafness

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

Genetic Tests for Knuckle Pads, Leuconychia and Sensorineural Deafness

Anatomical Context for Knuckle Pads, Leuconychia and Sensorineural Deafness

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

40
Skin

Publications for Knuckle Pads, Leuconychia and Sensorineural Deafness

Articles related to Knuckle Pads, Leuconychia and Sensorineural Deafness:

(show all 11)
# Title Authors PMID Year
1
G59S mutation in the GJB2 gene in a Chinese family with classic Vohwinkel syndrome. 61
30565282 2019
2
Heimler's syndrome: a close mimic of Bart-Pumphrey syndrome. 61
26519192 2016
3
Overview of skin diseases linked to connexin gene mutations. 61
23675785 2014
4
Report of a family with idiopathic knuckle pads and review of idiopathic and disease-associated knuckle pads. 61
24011277 2013
5
The role of connexins in ear and skin physiology - functional insights from disease-associated mutations. 61
22796187 2013
6
A family of Bart-Pumphrey syndrome. 61
22421650 2012
7
A family with leukonychia totalis. 61
20418990 2010
8
Connexin-26 mutations in deafness and skin disease. 61
19939300 2009
9
G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome. 61
15952212 2005
10
Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. 61
15482471 2004
11
Familial leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis: an additional family with Bart-Pumphrey syndrome. 61
8151643 1994

Variations for Knuckle Pads, Leuconychia and Sensorineural Deafness

Expression for Knuckle Pads, Leuconychia and Sensorineural Deafness

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

Pathways for Knuckle Pads, Leuconychia and Sensorineural Deafness

GO Terms for Knuckle Pads, Leuconychia and Sensorineural Deafness

Sources for Knuckle Pads, Leuconychia and Sensorineural Deafness

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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