MCID: MLD006
MIFTS: 38

Mal De Meleda

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Mal De Meleda

MalaCards integrated aliases for Mal De Meleda:

Name: Mal De Meleda 57 12 53 25 59 75 37 55 15
Meleda Disease 57 12 76 53 25 59 75 13 73
Keratosis Palmoplantaris Transgrediens of Siemens 57 12 25 59
Acroerythrokeratoderma 25 29 6 40
Transgrediens Palmoplantar Keratoderma of Siemens 12 25 59
Mdm 57 53 75
Keratosis Palmoplantaris Transgradiens of Siemens 53 75

Characteristics:

Orphanet epidemiological data:

59
mal de meleda
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy


HPO:

32
mal de meleda:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 248300
Disease Ontology 12 DOID:0060862
ICD10 33 Q82.8
Orphanet 59 ORPHA87503
ICD10 via Orphanet 34 Q82.8
UMLS via Orphanet 74 C0025221
MedGen 42 C0025221
MeSH 44 D007645
KEGG 37 H00695
UMLS 73 C0025221

Summaries for Mal De Meleda

Genetics Home Reference : 25 Mal de Meleda is a rare skin disorder that begins in early infancy. Affected individuals have a condition known as palmoplantar keratoderma, in which the skin of the palms of the hands and soles of the feet becomes thick, hard, and callused. In mal de Meleda, the thickened skin is also found on the back of the hands and feet and on the wrists and ankles. In addition, affected individuals may have rough, thick pads on the joints of the fingers and toes and on the elbows and knees. Some people with mal de Meleda have recurrent fungal infections in the thickened skin, which can lead to a strong odor. Other features of this disorder can include short fingers and toes (brachydactyly), nail abnormalities, red skin around the mouth, and excessive sweating (hyperhidrosis).

MalaCards based summary : Mal De Meleda, also known as meleda disease, is related to palmoplantar keratosis and papillon-lefevre syndrome. An important gene associated with Mal De Meleda is SLURP1 (Secreted LY6/PLAUR Domain Containing 1). Affiliated tissues include skin and t cells, and related phenotypes are hyperhidrosis and ichthyosis

UniProtKB/Swiss-Prot : 75 Mal de Meleda: A rare autosomal recessive skin disorder, characterized by diffuse transgressive palmoplantar keratoderma with keratotic lesions extending onto the dorsa of the hands and the feet (transgrediens). Patients may have hyperhidrosis. Other features include perioral erythema, lichenoid plaques on the knees and the elbows, and nail abnormalities.

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 87503Disease definitionMal de Meleda (MdM) is a diffuse palmoplantar keratoderma, initially reported in the Island of Meleda, characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgrediens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema.Visit the Orphanet disease page for more resources.

Disease Ontology : 12 A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has material basis in homozygous mutation in the SLURP1 gene on chromosome 8q24.

Wikipedia : 76 Meleda disease (MDM) or \"mal de Meleda\", also called Mljet disease, keratosis palmoplantaris and... more...

Description from OMIM: 248300

Related Diseases for Mal De Meleda

Diseases related to Mal De Meleda via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratosis 29.2 KRT9 SERPINB7 SLURP1
2 papillon-lefevre syndrome 11.3
3 palmoplantar keratoderma, nagashima type 11.3
4 melanoma 10.4
5 cataract 10.2
6 squamous cell carcinoma 10.1
7 pseudoainhum 10.1
8 muscular dystrophy 10.0
9 colorectal cancer 9.8
10 myositis 9.8
11 ovarian cancer 9.8
12 suppressor of tumorigenicity 3 9.8
13 cervicitis 9.8
14 rhabdomyosarcoma 9.8
15 diphtheria 9.7 EGF PLAUR
16 adamantinoma of long bones 9.6 EGF PLAUR
17 skin disease 9.4 KRT9 SLURP1
18 brain cancer 9.2 EGF PLAUR
19 keratosis 9.0 KRT9 SERPINB7 SLURP1

Graphical network of the top 20 diseases related to Mal De Meleda:



Diseases related to Mal De Meleda

Symptoms & Phenotypes for Mal De Meleda

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
hyperhidrosis
ichthyosis
congenital symmetrical palmoplantar keratosis
transgressive keratosis
lichenoid plaques

Head And Neck Mouth:
perioral erythema

Skeletal Hands:
brachydactyly

Skin Nails Hair Nails:
fragile, lustreless nails


Clinical features from OMIM:

248300

Human phenotypes related to Mal De Meleda:

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000975
2 ichthyosis 59 32 frequent (33%) Frequent (79-30%) HP:0008064
3 concave nail 59 32 frequent (33%) Frequent (79-30%) HP:0001598
4 subungual hyperkeratosis 59 32 frequent (33%) Frequent (79-30%) HP:0008392
5 thick nail 59 32 frequent (33%) Frequent (79-30%) HP:0001805
6 diffuse palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0007435
7 hyperkeratosis with erythema 59 32 hallmark (90%) Very frequent (99-80%) HP:0007390
8 abnormality of the mouth 32 HP:0000153
9 brachydactyly 32 HP:0001156
10 erythema 32 HP:0010783
11 fragile nails 32 HP:0001808
12 congenital symmetrical palmoplantar keratosis 32 HP:0007553

Drugs & Therapeutics for Mal De Meleda

Search Clinical Trials , NIH Clinical Center for Mal De Meleda

Genetic Tests for Mal De Meleda

Genetic tests related to Mal De Meleda:

# Genetic test Affiliating Genes
1 Acroerythrokeratoderma 29 SLURP1

Anatomical Context for Mal De Meleda

MalaCards organs/tissues related to Mal De Meleda:

41
Skin, T Cells

Publications for Mal De Meleda

Articles related to Mal De Meleda:

(show top 50) (show all 51)
# Title Authors Year
1
SLURP-1 is mutated in Mal de Meleda, a potential molecular signature for melanoma and a putative squamous lineage tumor suppressor gene. ( 29231248 )
2018
2
A Mal De Meleda patient with severe flexion contractures of hands and feet: A case report in West China. ( 28885351 )
2017
3
Identification of novel homozygous SLURP1 mutation in a Javanese family with Mal de Meleda. ( 29023701 )
2017
4
Malignant melanoma in a patient with mal de Meleda. ( 26801819 )
2016
5
Mal de Meleda: A Focused Review. ( 26445964 )
2016
6
First Mal de Meleda report in Chinese Mainland: two families with a recurrent homozygous missense mutation in SLURP-1. ( 25763536 )
2016
7
Mal de Meleda in Indonesia: Mutations in the SLURP1 gene appear to be ubiquitous. ( 25557416 )
2016
8
A Different Presentation of Mal De Meleda: New Skin Lesions in a Residual Limb after Traumatic Amputation. ( 27477174 )
2016
9
Immunohistological study of tight junction protein expression in mal de Meleda. ( 26986447 )
2016
10
A novel homozygous mutation disrupting the initiation codon in the SLURP1 gene underlies mal de Meleda in a consanguineous family. ( 29226984 )
2016
11
Unguales Plattenepithelkarzinom bei einem Patienten mit Mal de Meleda. ( 27119476 )
2016
12
Ungual squamous cell carcinoma in a patient with Mal de Meleda. ( 27119475 )
2016
13
A novel mutation in SLURP1 in patients with mal de Meleda from the Indian subcontinent. ( 26254200 )
2015
14
Reply to Nellen et al's comment on the classification of clinical/genetic variants of Mal de Meleda. ( 26844309 )
2015
15
The first Mal de Meleda case in Libya: identification of a SLURP1 mutation. ( 24738704 )
2015
16
Mal de Meleda with Congenital Cataract: A Novel Case Report. ( 26538740 )
2015
17
Mal de Meleda: A report of two siblings in one family. ( 25396148 )
2014
18
Mal de meleda - through history and today. ( 25102791 )
2014
19
Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda. ( 24604124 )
2014
20
A Japanese case of Mal de Meleda with SLURP1 mutation. ( 24985918 )
2014
21
Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region. ( 24093092 )
2013
22
Haplotype analysis in western European patients with mal de Meleda: founder effect for the W15R mutation in the SLURP1 gene. ( 23290002 )
2013
23
Mal de meleda with lip involvement: a report of two cases. ( 23112362 )
2012
24
SLURP1 mutation-impaired T-cell activation in a family with mal de Meleda. ( 20854438 )
2011
25
A novel homozygous missense mutation in SLURP1 causing Mal de Meleda with an atypical phenotype. ( 21690549 )
2011
26
Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports. ( 20406438 )
2010
27
Mutations in the SLURP-1 gene underlie Mal de Meleda in three Pakistani families. ( 19692209 )
2009
28
Melanoma in skin affected with keratoderma palmoplantaris hereditaria (Mal de Meleda): Treatment with excision and grafting. ( 19539863 )
2009
29
Compound heterozygosity for ARS component B mutations in a Dutch patient with mal de Meleda. ( 19120323 )
2009
30
SLURP1 is a late marker of epidermal differentiation and is absent in Mal de Meleda. ( 17008884 )
2007
31
A novel mutation in the ARS (component B) gene encoding SLURP-1 in a Turkish family with mal de Meleda. ( 16882192 )
2006
32
Mal de Meleda in a taiwanese. ( 15909066 )
2005
33
Heterozygous manifestations in female carriers of Mal de Meleda. ( 14756676 )
2004
34
Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates. ( 12483299 )
2003
35
Identification of SLURP-1 as an epidermal neuromodulator explains the clinical phenotype of Mal de Meleda. ( 14506129 )
2003
36
Identification of recurrent mutations in the ARS (component B) gene encoding SLURP-1 in two families with mal de Meleda. ( 12535203 )
2003
37
Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda. ( 12603845 )
2003
38
A novel mutation in the ARS (component B) gene encoding SLURP-1 in a family with Mal de Meleda. ( 12950349 )
2003
39
A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern Tunisia. ( 14674887 )
2003
40
A recurrent mutation in the ARS (component B) gene encoding SLURP-1 in Turkish families with mal de Meleda: evidence of a founder effect. ( 12787122 )
2003
41
ARS component B: structural characterization, tissue expression and regulation of the gene and protein (SLURP-1) associated with Mal de Meleda. ( 14721776 )
2003
42
Malignant melanoma developing in an area of hereditary palmoplantar keratoderma (Mal de Meleda). ( 14756434 )
2003
43
Mal de Meleda without mutations in the ARS coding sequence. ( 11872406 )
2002
44
Mutations in the gene encoding SLURP-1 in Mal de Meleda. ( 11285253 )
2001
45
Homozygosity at chromosome 8qter in individuals affected by mal de Meleda (Meleda disease) originating from the island of Meleda. ( 11298530 )
2001
46
Genetic linkage of Meleda disease to chromosome 8qter. ( 9887370 )
1998
47
Palmoplantar keratoderma--Mal de Meleda syndrome. ( 9427080 )
1997
48
Meleda disease: report of two cases investigated by electron microscopy. ( 8993971 )
1996
49
Mal de Meleda keratoderma with pseudoainhum. ( 8457455 )
1993
50
Mal de Meleda: recessive transgressive palmoplantar keratoderma with three unusual facultative features. ( 1532755 )
1992

Variations for Mal De Meleda

UniProtKB/Swiss-Prot genetic disease variations for Mal De Meleda:

75
# Symbol AA change Variation ID SNP ID
1 SLURP1 p.Trp15Arg VAR_032871 rs121908318
2 SLURP1 p.Arg71His VAR_032872
3 SLURP1 p.Cys77Arg VAR_032873 rs121908319
4 SLURP1 p.Gly86Arg VAR_032874 rs28937888
5 SLURP1 p.Cys99Tyr VAR_032875 rs121908320
6 SLURP1 p.Arg71Pro VAR_077307
7 SLURP1 p.Cys94Ser VAR_077309 rs772388665
8 SLURP1 p.Leu98Pro VAR_077310

ClinVar genetic disease variations for Mal De Meleda:

6
(show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLURP1 NM_020427.2(SLURP1): c.82delT (p.Cys28Alafs) deletion Pathogenic rs587776601 GRCh37 Chromosome 8, 143823317: 143823317
2 SLURP1 NM_020427.2(SLURP1): c.82delT (p.Cys28Alafs) deletion Pathogenic rs587776601 GRCh38 Chromosome 8, 142741899: 142741899
3 SLURP1 NM_020427.2(SLURP1): c.178+1G> A single nucleotide variant Pathogenic rs587776602 GRCh37 Chromosome 8, 143823220: 143823220
4 SLURP1 NM_020427.2(SLURP1): c.178+1G> A single nucleotide variant Pathogenic rs587776602 GRCh38 Chromosome 8, 142741802: 142741802
5 SLURP1 NM_020427.2(SLURP1): c.286C> T (p.Arg96Ter) single nucleotide variant Pathogenic rs121908317 GRCh37 Chromosome 8, 143822587: 143822587
6 SLURP1 NM_020427.2(SLURP1): c.286C> T (p.Arg96Ter) single nucleotide variant Pathogenic rs121908317 GRCh38 Chromosome 8, 142741169: 142741169
7 SLURP1 NM_020427.2(SLURP1): c.256G> A (p.Gly86Arg) single nucleotide variant Pathogenic rs28937888 GRCh37 Chromosome 8, 143822617: 143822617
8 SLURP1 NM_020427.2(SLURP1): c.256G> A (p.Gly86Arg) single nucleotide variant Pathogenic rs28937888 GRCh38 Chromosome 8, 142741199: 142741199
9 SLURP1 NM_020427.2(SLURP1): c.256G> C (p.Gly86Arg) single nucleotide variant Pathogenic rs28937888 GRCh37 Chromosome 8, 143822617: 143822617
10 SLURP1 NM_020427.2(SLURP1): c.256G> C (p.Gly86Arg) single nucleotide variant Pathogenic rs28937888 GRCh38 Chromosome 8, 142741199: 142741199
11 SLURP1 NM_020427.2(SLURP1): c.1A> C (p.Met1Leu) single nucleotide variant Pathogenic rs28937889 GRCh37 Chromosome 8, 143823803: 143823803
12 SLURP1 NM_020427.2(SLURP1): c.1A> C (p.Met1Leu) single nucleotide variant Pathogenic rs28937889 GRCh38 Chromosome 8, 142742385: 142742385
13 SLURP1 NM_020427.2(SLURP1): c.43T> C (p.Trp15Arg) single nucleotide variant Pathogenic rs121908318 GRCh37 Chromosome 8, 143823761: 143823761
14 SLURP1 NM_020427.2(SLURP1): c.43T> C (p.Trp15Arg) single nucleotide variant Pathogenic rs121908318 GRCh38 Chromosome 8, 142742343: 142742343
15 SLURP1 NM_020427.2(SLURP1): c.229T> C (p.Cys77Arg) single nucleotide variant Pathogenic rs121908319 GRCh37 Chromosome 8, 143822644: 143822644
16 SLURP1 NM_020427.2(SLURP1): c.229T> C (p.Cys77Arg) single nucleotide variant Pathogenic rs121908319 GRCh38 Chromosome 8, 142741226: 142741226
17 SLURP1 NM_020427.2(SLURP1): c.296G> A (p.Cys99Tyr) single nucleotide variant Pathogenic rs121908320 GRCh37 Chromosome 8, 143822577: 143822577
18 SLURP1 NM_020427.2(SLURP1): c.296G> A (p.Cys99Tyr) single nucleotide variant Pathogenic rs121908320 GRCh38 Chromosome 8, 142741159: 142741159
19 SLURP1 NM_020427.2(SLURP1): c.179-3C> T single nucleotide variant Uncertain significance rs371317832 GRCh38 Chromosome 8, 142741279: 142741279
20 SLURP1 NM_020427.2(SLURP1): c.179-3C> T single nucleotide variant Uncertain significance rs371317832 GRCh37 Chromosome 8, 143822697: 143822697
21 SLURP1 NM_020427.2(SLURP1): c.-7C> T single nucleotide variant Uncertain significance rs201610070 GRCh38 Chromosome 8, 142742392: 142742392
22 SLURP1 NM_020427.2(SLURP1): c.-7C> T single nucleotide variant Uncertain significance rs201610070 GRCh37 Chromosome 8, 143823810: 143823810
23 SLURP1 NM_020427.2(SLURP1): c.*143G> A single nucleotide variant Uncertain significance rs182887603 GRCh38 Chromosome 8, 142741000: 142741000
24 SLURP1 NM_020427.2(SLURP1): c.*143G> A single nucleotide variant Uncertain significance rs182887603 GRCh37 Chromosome 8, 143822418: 143822418
25 SLURP1 NM_020427.2(SLURP1): c.261C> T (p.Ala87=) single nucleotide variant Likely benign rs62636564 GRCh38 Chromosome 8, 142741194: 142741194
26 SLURP1 NM_020427.2(SLURP1): c.261C> T (p.Ala87=) single nucleotide variant Likely benign rs62636564 GRCh37 Chromosome 8, 143822612: 143822612
27 SLURP1 NM_020427.2(SLURP1): c.*14G> A single nucleotide variant Uncertain significance rs886062732 GRCh38 Chromosome 8, 142741129: 142741129
28 SLURP1 NM_020427.2(SLURP1): c.*14G> A single nucleotide variant Uncertain significance rs886062732 GRCh37 Chromosome 8, 143822547: 143822547

Expression for Mal De Meleda

Search GEO for disease gene expression data for Mal De Meleda.

Pathways for Mal De Meleda

GO Terms for Mal De Meleda

Cellular components related to Mal De Meleda according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 8.92 EGF KRT9 SERPINB7 SLURP1

Biological processes related to Mal De Meleda according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of DNA binding GO:0043388 8.96 EGF PLAUR
2 urokinase plasminogen activator signaling pathway GO:0038195 8.62 PLAUR SLURP1

Sources for Mal De Meleda

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
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