MCID: KRT023
MIFTS: 14

Keratoderma Palmoplantaris Transgrediens

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Keratoderma Palmoplantaris Transgrediens

MalaCards integrated aliases for Keratoderma Palmoplantaris Transgrediens:

Name: Keratoderma Palmoplantaris Transgrediens 52 71
Greither Disease 52 71
Erythrokeratodermia Figurata, Congenital Familial, in Plaques 52
Erythrokeratodermia Variabilis with Erythema Gyratum Repens 52
Keratosis Palmoplantaris Transgrediens Et Progrediens 52
Transgrediens Et Progrediens Palmoplantar Keratoderma 52
Keratosis Extremitatum Hereditaria Progrediens 52
Greither's Disease 52

Classifications:



External Ids:

UMLS 71 C1851479 C1851480

Summaries for Keratoderma Palmoplantaris Transgrediens

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 495 Definition A rare, isolated, diffuse palmoplantar keratoderma disorder characterized by red-yellow, moderate to severe hyperkeratosis of the palms and soles, extending to the dorsal aspects of the hands, feet and/or wrists and involving the skin over the Achilles' tendon (transgrediens), gradually worsening with age (progrediens) to include patchy hyperkeratosis over the shins, knees, elbows and, sometimes, skin flexures. Hyperhidrosis is usually associated. Histologically, either epidermolytic or nonepidermolytic changes may be seen. Visit the Orphanet disease page for more resources.

MalaCards based summary : Keratoderma Palmoplantaris Transgrediens, also known as greither disease, is related to erythrokeratodermia variabilis et progressiva 1 and papillon-lefevre syndrome. Affiliated tissues include skin.

Related Diseases for Keratoderma Palmoplantaris Transgrediens

Diseases related to Keratoderma Palmoplantaris Transgrediens via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 erythrokeratodermia variabilis et progressiva 1 11.6
2 papillon-lefevre syndrome 11.3
3 palmoplantar keratoderma, epidermolytic 10.6
4 keratitis, hereditary 10.6
5 netherton syndrome 10.6
6 branchiootic syndrome 1 10.6
7 erythrokeratodermia variabilis et progressiva 5 10.6
8 autosomal recessive congenital ichthyosis 10.6
9 ichthyosis 10.6
10 skin disease 10.6
11 erythrokeratoderma ''en cocardes'' 10.6
12 erythrokeratoderma 10.6
13 keratosis 10.3
14 diffuse palmoplantar keratoderma 10.3
15 papilloma 10.2
16 palmoplantar keratosis 10.2

Graphical network of the top 20 diseases related to Keratoderma Palmoplantaris Transgrediens:



Diseases related to Keratoderma Palmoplantaris Transgrediens

Symptoms & Phenotypes for Keratoderma Palmoplantaris Transgrediens

Drugs & Therapeutics for Keratoderma Palmoplantaris Transgrediens

Search Clinical Trials , NIH Clinical Center for Keratoderma Palmoplantaris Transgrediens

Genetic Tests for Keratoderma Palmoplantaris Transgrediens

Anatomical Context for Keratoderma Palmoplantaris Transgrediens

MalaCards organs/tissues related to Keratoderma Palmoplantaris Transgrediens:

40
Skin

Publications for Keratoderma Palmoplantaris Transgrediens

Articles related to Keratoderma Palmoplantaris Transgrediens:

# Title Authors PMID Year
1
Patient with Mal de Meleda in whom a Novel Gene Mutation was Identified. 61
31258365 2019
2
A Sporadic Case of Mal de Meleda Caused by Gene Mutation in SLURP-1 in Korea. 61
21909218 2011
3
Transgrediens et progrediens palmoplantar keratoderma (Greither disease) and confluent and reticulated papillomatosis of Gougerot and Carteaud in the same patient: a coincidental finding? 61
18577063 2008
4
Mal de Meleda: genetic haplotype analysis and clinicopathological findings in cases originating from the island of Mljet (Meleda), Croatia. 61
12145432 2002
5
Linkage studies in erythrokeratodermias: fine mapping, genetic heterogeneity and analysis of candidate genes. 61
9347797 1997
6
Mal de Meleda: recessive transgressive palmoplantar keratoderma with three unusual facultative features. 61
1532755 1992
7
[Nail changes in Meleda disease]. 61
6216676 1982

Variations for Keratoderma Palmoplantaris Transgrediens

Expression for Keratoderma Palmoplantaris Transgrediens

Search GEO for disease gene expression data for Keratoderma Palmoplantaris Transgrediens.

Pathways for Keratoderma Palmoplantaris Transgrediens

GO Terms for Keratoderma Palmoplantaris Transgrediens

Sources for Keratoderma Palmoplantaris Transgrediens

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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