MCID: MLD003
MIFTS: 38

Meleda Disease

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Meleda Disease

MalaCards integrated aliases for Meleda Disease:

Name: Meleda Disease 54 12 50 24 25 56 71 13 69
Mal De Meleda 12 50 24 25 56 71 52 14
Keratosis Palmoplantaris Transgrediens of Siemens 12 25 56
Transgrediens Palmoplantar Keratoderma of Siemens 12 25 56
Mdm 50 24 71
Keratosis Palmoplantaris Transgradiens of Siemens 50 71
Acroerythrokeratoderma 25 29

Characteristics:

Orphanet epidemiological data:

56
mal de meleda
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
onset in early infancy


HPO:

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


Classifications:

Orphanet: 56  
Rare skin diseases


Summaries for Meleda Disease

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 : Meleda Disease, also known as mal de meleda, is related to palmoplantar keratoderma, nagashima type and melanoma, and has symptoms including ichthyosis, hyperhidrosis and diffuse palmoplantar keratoderma. An important gene associated with Meleda Disease is SLURP1 (Secreted LY6/PLAUR Domain Containing 1), and among its related pathways/superpathways is Keratinization. Affiliated tissues include skin.

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on palmoplantar keratoderma.

UniProtKB/Swiss-Prot : 71 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.

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

Description from OMIM: 248300

Related Diseases for Meleda Disease

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

(show all 31)
id Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma, nagashima type 11.2
2 melanoma 10.2
3 pseudoainhum 10.0
4 cataract 10.0
5 palmoplantar keratoderma, nonepidermolytic, focal 9.9 KRT10 KRT9
6 muscular dystrophy 9.9
7 andersen syndrome 9.8 KRT1 KRT10
8 ichthyosis histrix, curth-macklin type 9.8 KRT1 KRT10
9 myositis 9.8
10 colorectal cancer 9.8
11 cervicitis 9.8
12 rhabdomyosarcoma 9.8
13 basal cell carcinoma 4 9.7 KRT1 KRT9
14 keratosis palmoplantaris striata iii 9.7 KRT1 KRT9
15 palmoplantar keratoderma, epidermolytic 9.7 KRT1 KRT9
16 uremic neuropathy 9.7 KRT1 KRT10
17 retinitis pigmentosa 30 9.6 KRT1 KRT10
18 bilateral retinoblastoma 9.5 KRT1 KRT10
19 steroid inherited metabolic disorder 9.5 KRT1 KRT10
20 richter's syndrome 9.4 KRT1 KRT10
21 marburg hemorrhagic fever 9.3 KRT1 KRT10 KRT9
22 squamous cell carcinoma 9.3 KRT1 KRT10 KRT9
23 epidermolysis bullosa simplex, dowling-meara type 9.3 KRT1 KRT10 KRT9
24 telangiectasia, hereditary hemorrhagic, type 2 9.3 KRT1 KRT10 KRT9
25 ichthyosis, cyclic, with epidermolytic hyperkeratosis 9.3 KRT1 KRT10 KRT9
26 small non-cleaved cell lymphoma 9.2 KRT1 KRT10 KRT9
27 autonomic nervous system neoplasm 9.2 KRT1 KRT10
28 idiopathic neonatal atrial flutter 9.2 KRT1 KRT10 SERPINB7
29 carotid artery disease 8.3 KRT1 KRT10 KRT9 SERPINB7 SLURP1
30 breast leiomyoma 8.3 KRT1 KRT10 KRT9 SERPINB7 SLURP1
31 bamforth-lazarus syndrome 7.8 KRT1 KRT10 KRT9 PLAUR SERPINB7 SLURP1

Graphical network of the top 20 diseases related to Meleda Disease:



Diseases related to Meleda Disease

Symptoms & Phenotypes for Meleda Disease

Symptoms via clinical synopsis from OMIM:

54

Skeletal- Hands:
brachydactyly

Head And Neck- Mouth:
perioral erythema

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

Skin Nails & Hair- Nails:
fragile, lustreless nails


Clinical features from OMIM:

248300

Human phenotypes related to Meleda Disease:

56 32 (show all 12)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 56 32 frequent (33%) Frequent (79-30%) HP:0008064
2 hyperhidrosis 56 32 frequent (33%) Frequent (79-30%) HP:0000975
3 diffuse palmoplantar keratoderma 56 32 hallmark (90%) Very frequent (99-80%) HP:0007435
4 subungual hyperkeratosis 56 32 frequent (33%) Frequent (79-30%) HP:0008392
5 hyperkeratosis with erythema 56 32 hallmark (90%) Very frequent (99-80%) HP:0007390
6 concave nail 56 32 frequent (33%) Frequent (79-30%) HP:0001598
7 thick nail 56 32 frequent (33%) Frequent (79-30%) HP:0001805
8 brachydactyly 32 HP:0001156
9 fragile nails 32 HP:0001808
10 erythema 32 HP:0010783
11 congenital symmetrical palmoplantar keratosis 32 HP:0007553
12 abnormality of the mouth 32 HP:0000153

Drugs & Therapeutics for Meleda Disease

Search Clinical Trials , NIH Clinical Center for Meleda Disease

Genetic Tests for Meleda Disease

Genetic tests related to Meleda Disease:

id Genetic test Affiliating Genes
1 Acroerythrokeratoderma 29
2 Mal De Meleda 24 SLURP1

Anatomical Context for Meleda Disease

MalaCards organs/tissues related to Meleda Disease:

39
Skin

Publications for Meleda Disease

Articles related to Meleda Disease:

id Title Authors Year
1
Homozygosity at chromosome 8qter in individuals affected by mal de Meleda (Meleda disease) originating from the island of Meleda. ( 11298530 )
2001
2
Genetic linkage of Meleda disease to chromosome 8qter. ( 9887370 )
1998
3
Meleda disease: report of two cases investigated by electron microscopy. ( 8993971 )
1996

Variations for Meleda Disease

UniProtKB/Swiss-Prot genetic disease variations for Meleda Disease:

71
id 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 Meleda Disease:

6
id 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.178+1G> A single nucleotide variant Pathogenic rs587776602 GRCh37 Chromosome 8, 143823220: 143823220
3 SLURP1 NM_020427.2(SLURP1): c.286C> T (p.Arg96Ter) single nucleotide variant Pathogenic rs121908317 GRCh37 Chromosome 8, 143822587: 143822587
4 SLURP1 NM_020427.2(SLURP1): c.256G> A (p.Gly86Arg) single nucleotide variant Pathogenic rs28937888 GRCh37 Chromosome 8, 143822617: 143822617
5 SLURP1 NM_020427.2(SLURP1): c.256G> C (p.Gly86Arg) single nucleotide variant Pathogenic rs28937888 GRCh37 Chromosome 8, 143822617: 143822617
6 SLURP1 NM_020427.2(SLURP1): c.1A> C (p.Met1Leu) single nucleotide variant Pathogenic rs28937889 GRCh37 Chromosome 8, 143823803: 143823803
7 SLURP1 NM_020427.2(SLURP1): c.43T> C (p.Trp15Arg) single nucleotide variant Pathogenic rs121908318 GRCh37 Chromosome 8, 143823761: 143823761
8 SLURP1 NM_020427.2(SLURP1): c.229T> C (p.Cys77Arg) single nucleotide variant Pathogenic rs121908319 GRCh37 Chromosome 8, 143822644: 143822644
9 SLURP1 NM_020427.2(SLURP1): c.296G> A (p.Cys99Tyr) single nucleotide variant Pathogenic rs121908320 GRCh37 Chromosome 8, 143822577: 143822577

Expression for Meleda Disease

Search GEO for disease gene expression data for Meleda Disease.

Pathways for Meleda Disease

Pathways related to Meleda Disease according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.25 KRT1 KRT10 KRT9

GO Terms for Meleda Disease

Cellular components related to Meleda Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.65 KRT1 KRT10 KRT9 PLAUR SLURP1
2 extracellular space GO:0005615 9.35 KRT1 KRT10 KRT9 SERPINB7 SLURP1
3 cornified envelope GO:0001533 9.16 KRT1 KRT10
4 intermediate filament GO:0005882 8.8 KRT1 KRT10 KRT9

Biological processes related to Meleda Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 keratinization GO:0031424 9.5 KRT1 KRT10 KRT9
2 peptide cross-linking GO:0018149 9.37 KRT1 KRT10
3 fibrinolysis GO:0042730 9.26 KRT1 PLAUR
4 skin epidermis development GO:0098773 9.16 KRT1 KRT10
5 cornification GO:0070268 9.13 KRT1 KRT10 KRT9
6 urokinase plasminogen activator signaling pathway GO:0038195 8.32 PLAUR

Molecular functions related to Meleda Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 structural constituent of epidermis GO:0030280 8.62 KRT1 KRT10

Sources for Meleda Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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