MCID: PLM136
MIFTS: 38

Palmoplantar Keratoderma, Nonepidermolytic malady

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Palmoplantar Keratoderma, Nonepidermolytic

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Aliases & Descriptions for Palmoplantar Keratoderma, Nonepidermolytic:

Name: Palmoplantar Keratoderma, Nonepidermolytic 49 11 65
Nonepidermolytic Palmoplantar Keratoderma 10 12 67 24
Tylosis 10 45 67
Hyperkeratosis of the Palms and Soles and Esophageal Papillomas 45 65
Keratoderma, Palmoplantar, Diffuse 36 65
Neppk 51 67
Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type 51
Diffuse Nonepidermolytic Palmomplantar Keratoderma 10
Focal Non Epidermolytic Palmoplantar Keratoderma 45
Keratoderma, Palmoplantar, Non-Epidermolytic 67
 
Non-Epidermolytic Palmoplantar Keratoderma 51
Non-Epidermolytic Unna-Thost Disease 67
Nonepidermolytic Unna-Thost Disease 67
Early Onset Tylosis 45
Thost-Unna Syndrome 10
Unna-Thost Syndrome 10
Late Onset Tylosis 45
Familial Tylosis 45
Hyperkeratosis 65

Characteristics:

Orphanet epidemiological data:

51
neppk:
Inheritance: Autosomal dominant

HPO:

61
palmoplantar keratoderma, nonepidermolytic:
Inheritance: autosomal dominant inheritance


Classifications:

Orphanet: 51 
Rare skin diseases


External Ids:

OMIM49 600962
Disease Ontology10 DOID:0050428
NCIt42 C3147
Orphanet51 2337
ICD10 via Orphanet28 Q82.8
MedGen34 C1833030
UMLS65 C0022584, C3489771, C1833030 C0870082, C2931923, more

Summaries for Palmoplantar Keratoderma, Nonepidermolytic

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NIH Rare Diseases:45 Tylosis is a rare genetic disorder characterized by hyperkeratosis of the palms of the hands and soles of the feet. hyperkeratosis is an overgrowth of the outer skin layer (epidermis). the hyperkeratosis may be limited to pressure-bearing areas or cover the entire surface of the palms and soles. the degree and pattern of involvement can vary between the hands and feet of the same individual, within families, and among families. tylosis is inherited in an autosomal dominant pattern. two types of tylosis have been described, a late onset form and an early onset form. late onset tylosis (type a) occurs between the ages of 5 and 15 and is reported to be associated with a high incidence of esophageal cancer. early onset tylosis (type b) occurs in the first year of life and appears to be a benign disorder. distinguishing between the two is important for management and prognosis. last updated: 4/26/2016

MalaCards based summary: Palmoplantar Keratoderma, Nonepidermolytic, also known as nonepidermolytic palmoplantar keratoderma, is related to palmoplantar keratoderma, epidermolytic and isolated focal non-epidermolytic palmoplantar keratoderma, and has symptoms including palmoplantar hyperkeratosis/keratoderma, autosomal dominant inheritance and autosomal recessive inheritance. An important gene associated with Palmoplantar Keratoderma, Nonepidermolytic is KRT1 (Keratin 1), and among its related pathways is Cytoskeleton remodeling Neurofilaments. Affiliated tissues include palms, soles and skin, and related mouse phenotypes are integument and growth/size/body region.

Disease Ontology:10 A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located in palms and located in soles.

UniProtKB/Swiss-Prot:67 Keratoderma, palmoplantar, non-epidermolytic: A dermatological disorder characterized by well-demarcated hyperkeratosis is present over the palms and soles. A red band is frequently present at the periphery of the keratosis. It is usually non-transgredient, with a sharp demarcation of the lesions at the wrists.

Description from OMIM:49 600962

Related Diseases for Palmoplantar Keratoderma, Nonepidermolytic

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Diseases related to Palmoplantar Keratoderma, Nonepidermolytic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 67)
idRelated DiseaseScoreTop Affiliating Genes
1palmoplantar keratoderma, epidermolytic29.0AQP5, CTSC, DSG1, FLG, GJB2, GJB3
2isolated focal non-epidermolytic palmoplantar keratoderma12.8
3autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering12.8
4palmoplantar keratoderma, nonepidermolytic, focal or diffuse12.7
5palmoplantar keratoderma, nonepidermolytic, focal12.7
6tylosis with esophageal cancer12.7
7palmoplantar keratoderma, nonepidermolytic, focal 212.6
8nonepidermolytic palmoplantar hyperkeratosis11.7
9diffuse idiopathic skeletal hyperostosis11.5
10unna-thost palmoplantar keratoderma11.4
11palmoplantar keratoderma, nonepidermolytic10.5KRT1, KRT9
12white sponge nevus 110.5KRT1, KRT9
13neonatal herpes10.4
14intellectual disability10.4
15frontotemporal lobar degeneration with ubiquitin-positive inclusions10.4KRT1, KRT10
16vulvar clear cell hidradenocarcinoma10.4KRT1, KRT10
17pseudoaminopterin syndrome10.3GJB3, LOR
18acantholytic acanthoma10.3KRT1, KRT10, KRT9
19ichthyosis histrix, curth-macklin type10.3KRT1, KRT10, KRT9
20drug psychosis10.3KRT1, KRT10, KRT9
21malouf syndrome10.2LOR, TGM1
22venous hemangioma10.2FLG, KRT10
23nonsyndromic hearing loss and deafness, mitochondrial10.2GJB2, GJB3
24factitious disorder10.2KRT10, KRT16
25deafness, autosomal dominant 3a10.2GJB2, GJB3
26retinitis pigmentosa 3010.2KRT1, KRT10, KRT16
27penis carcinoma in situ10.2FLG, LOR
28kidney cancer, childhood10.2GJB2, GJB3
29metagonimiasis10.2GJB2, GJB3
30nonsyndromic hearing loss and deafness, autosomal dominant10.2GJB2, GJB3
31contact dermatitis10.2FLG, KRT16, LOR
32ichthyosis, autosomal recessive 4b10.2FLG, TGM1
33epilepsy benign neonatal dominant form10.2FLG, KRT1, KRT10
34spastic paraplegia 50, autosomal recessive10.2GJB2, GJB3
35skin pilomatrix carcinoma10.2FLG, KRT1, KRT10
36dhdds-cdg10.2GJB2, GJB3
37colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas10.2FLG, KRT1, KRT10
38braddock syndrome10.1DSG1, FLG, KRT1
39soft palate cancer10.1DSG1, FLG
40epidural spinal canal meningioma10.1FLG, LOR
41epidermolysis bullosa simplex, dowling-meara type10.1KRT1, KRT10, KRT16, KRT9
42acral persistent papular mucinosis10.1GJB2, GJB3
43steatocystoma multiplex10.1KRT16, KRT17
44syndactyly, type iii10.1GJB2, GJB3, LOR
45dihydrolipoamide dehydrogenase deficiency10.0GJB2, GJB3
46erythrokeratodermia variabilis et progressiva10.0GJB2, GJB3, LOR
47troyer syndrome10.0GJB2, GJB3
48capillary hemangioma10.0DSG1, FLG, KRT16
49fanconi anemia, complementation group b10.0FLG, KRT10, TGM1
50bart-pumphrey syndrome9.9GJB2, LOR, TGM1

Graphical network of the top 20 diseases related to Palmoplantar Keratoderma, Nonepidermolytic:



Diseases related to palmoplantar keratoderma, nonepidermolytic

Symptoms for Palmoplantar Keratoderma, Nonepidermolytic

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Symptoms by clinical synopsis from OMIM:

600962

Clinical features from OMIM:

600962

Symptoms:

 51 (show all 8)
  • palmoplantar hyperkeratosis/keratoderma
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • chronic skin infection/ulcerations/ulcers/cancrum
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • follicular/erythematous/edematous papules/milium
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • pruritus/itching

HPO human phenotypes related to Palmoplantar Keratoderma, Nonepidermolytic:

id Description Frequency HPO Source Accession
1 nonepidermolytic palmoplantar keratoderma HP:0007404

Drugs & Therapeutics for Palmoplantar Keratoderma, Nonepidermolytic

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Drugs for Palmoplantar Keratoderma, Nonepidermolytic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Acitretinapproved3055079-83-96437841, 5284513
Synonyms:
(2E,4E,6E,8E)-3,7-dimethyl-9-[2,3,6-trimethyl-4-(methyloxy)phenyl]nona-2,4,6,8-tetraenoic acid
(2E,4E,6E,8E)-9-(4-methoxy-2,3,6-trimethylphenyl)-3,7-dimethylnona-2,4,6,8-tetraenoic acid
(all-E)-9-(4-Methoxy-2,3,6-trimethylphenyl)-3,7-dimethyl-2,4,6,8-nonatetraenoic acid
(all-e)-9-(4-Methoxy-2,3,6-trimethylphenyl)-3,7-dimethyl-2,4,6,8-nonatetraenoic acid
13-cis-Acitretin
44707_FLUKA
44707_SIGMA
54757-46-9
55079-83-9
9-(4-Methoxy-2,3,6-trimethylphenyl)-3,7-dimethyl-2,4,6,8-nonatetraenoic acid
9-(4-Methoxy-2,3,6-trimethylphenyl)-3,7-dimethylnona-2,4,6,8-tetraenoic acid
AC-4702
AC1NR4LJ
AC1Q5T6I
Acetretin
Acitretin
Acitretin (USAN/INN)
Acitretin [USAN:INN:BAN]
Acitretina
Acitretina [Spanish]
Acitretine
Acitretine [French]
Acitretinum
Acitretinum [Latin]
BIDD:GT0617
Bio-0002
CCRIS 5534
CHEBI:50173
CHEMBL1131
CID5284513
CPD000499573
 
D02754
EINECS 259-474-4
Etretin
FT-0082892
HSDB 7187
Isoacitretin
Isoetretin
LS-96920
MLS001076667
MolPort-003-925-892
NCGC00163127-01
NCGC00163127-02
Neotigason
Retinoid etretin
Ro 10-1670
Ro 10-1670/000
Ro 13-7652
Ro-10-1670
Ro-10-1670/000
Ro-13-7652
S1368_Selleck
SAM002589973
SBB064171
SMR000499573
Soriatane
Soriatane (TN)
Soriatane, Acitretin
Spectrum5_002065
TMMP
U0279
UNII-LCH760E9T7
all-trans-3,7-Dimethyl-9-(4-methoxy-2,3,6-trimethylphenyl)-2,4,6,8-nonatetraenoic acid
all-trans-Acitretin

Interventional clinical trials:

idNameStatusNCT IDPhase
1The Evaluation of Oral Acitretin in the Treatment of Psoriasis, Cutaneous Disorders of Keratinization, Multiple Basal Cell Carcinomas and Other Retinoid Responsive DiseasesCompletedNCT00005660

Search NIH Clinical Center for Palmoplantar Keratoderma, Nonepidermolytic


Cochrane evidence based reviews: keratoderma, palmoplantar, diffuse

Genetic Tests for Palmoplantar Keratoderma, Nonepidermolytic

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Anatomical Context for Palmoplantar Keratoderma, Nonepidermolytic

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MalaCards organs/tissues related to Palmoplantar Keratoderma, Nonepidermolytic:

33
Skin

FMA organs/tissues related to Palmoplantar Keratoderma, Nonepidermolytic:

16
Palms, Soles

Animal Models for Palmoplantar Keratoderma, Nonepidermolytic or affiliated genes

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MGI Mouse Phenotypes related to Palmoplantar Keratoderma, Nonepidermolytic:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107717.2CTSC, GJB2, GJB3, KRT1, KRT16, KRT17
2MP:00053786.7AQP5, CTSC, DSG1, GJB2, KRT1, KRT16

Publications for Palmoplantar Keratoderma, Nonepidermolytic

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Variations for Palmoplantar Keratoderma, Nonepidermolytic

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UniProtKB/Swiss-Prot genetic disease variations for Palmoplantar Keratoderma, Nonepidermolytic:

67
id Symbol AA change Variation ID SNP ID
1KRT1p.Lys74IleVAR_017819rs57977969

Clinvar genetic disease variations for Palmoplantar Keratoderma, Nonepidermolytic:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KRT1NM_006121.3(KRT1): c.221A> T (p.Lys74Ile)single nucleotide variantPathogenicrs57977969GRCh37Chr 12, 53073912: 53073912
2KRT1KRT1, IVS1, T-A, +2single nucleotide variantPathogenic
3KRT1KRT1, 24-BP DEL, NT1376deletionPathogenic

Expression for genes affiliated with Palmoplantar Keratoderma, Nonepidermolytic

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Search GEO for disease gene expression data for Palmoplantar Keratoderma, Nonepidermolytic.

Pathways for genes affiliated with Palmoplantar Keratoderma, Nonepidermolytic

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Pathways related to Palmoplantar Keratoderma, Nonepidermolytic according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1KRT1, KRT16, KRT17

GO Terms for genes affiliated with Palmoplantar Keratoderma, Nonepidermolytic

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Cellular components related to Palmoplantar Keratoderma, Nonepidermolytic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:00058829.8KRT10, KRT9

Biological processes related to Palmoplantar Keratoderma, Nonepidermolytic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1establishment of skin barrierGO:00614369.8FLG, KRT16
2skin developmentGO:00435889.6GJB3, KRT9
3epidermis developmentGO:00085449.0KRT16, KRT17, KRT9

Molecular functions related to Palmoplantar Keratoderma, Nonepidermolytic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1structural molecule activityGO:00051989.5FLG, KRT16, LOR

Sources for Palmoplantar Keratoderma, Nonepidermolytic

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet