Mal de Meleda

General Information (adopted from Orphanet):

Synonyms, Signs: KERATOSIS PALMOPLANTARIS TRANSGRADIENS OF SIEMENS
MDM
Transgrediens palmoplantar keratoderma of Siemens
Keratosis palmoplantaris transgrediens of Siemens
meleda disease
Number of Symptoms 23
OrphanetNr: 87503
OMIM Id: 248300
ICD-10: Q82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Infantile onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive isolated diffuse palmoplantar keratoderma
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
2
 (HPO:0000153) Abnormality of the mouth 60 / 7739
3
 (HPO:0001357) Plagiocephaly Frequent [Orphanet] 106 / 7739
4
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
5
 (HPO:0007553) Congenital symmetrical palmoplantar keratosis 1 / 7739
6
 (HPO:0002797) Osteolysis Occasional [Orphanet] 68 / 7739
7
 (HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
8
 (HPO:0011362) Abnormal hair quantity Frequent [Orphanet] 92 / 7739
9
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
10
 (HPO:0010783) Erythema Very frequent [Orphanet] 138 / 7739
11
 (HPO:0001808) Fragile nails 21 / 7739
12
 (HPO:0200042) Skin ulcer Frequent [Orphanet] 138 / 7739
13
 (HPO:0000975) Hyperhidrosis 64 / 7739
14
 (HPO:0008064) Ichthyosis Frequent [Orphanet] 108 / 7739
15
 (HPO:0100725) Lichenification Very frequent [Orphanet] 14 / 7739
16
 (HPO:0001597) Abnormality of the nail Frequent [Orphanet] 115 / 7739
17
 (HPO:0003593) Infantile onset 249 / 7739
18
 (OMIM) Erythema, perioral 2 / 7739
19
 (MedDRA:10072883) Brachydactyly 153 / 7739
20
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
21
 (OMIM) Fragile, lustreless nails 1 / 7739
22
 (OMIM) Lichenoid plaques 1 / 7739
23
 (OMIM) Transgressive keratosis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Congenital symmetrical cornification of the palms and soles, with ichthyotic changes elsewhere, characterizes this disorder which derives its name from its relatively high frequency among inhabitants of the Island of Meleda, Dalmatia, Yugoslavia. Bosnjakovic (1938) studied the family ...
Molecular genetics OMIM Fischer et al. (2001) refined the critical region on chromosome 8qter and identified mutations in affected individuals in the ARS component B gene, encoding a protein named SLURP1 (see 606119), for secreted Ly6/uPAR related protein-1. Three different homozygous ...