Disease #01904 (MDM (Meleda disease), OMIM:248300)

Official abbreviation MDM
Name Meleda disease
OMIM ID 248300
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 37
Phenotype entries for this disease 37
Associated with 1 gene SLURP1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-10-12 19:33:35 +02:00 (CEST)


Individuals

37 entries on 1 page. Showing entries 1 - 37.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00385649 Fam1 PubMed: Fischer 2001 family - - Algeria - - - - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration SLURP1 SLURP1 1 3 Johan den Dunnen
00385650 Fam2 PubMed: Fischer 2001 family - - Algeria - - - - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration SLURP1 SLURP1 1 1 Johan den Dunnen
00385651 Fam3 PubMed: Fischer 2001 family - - Algeria - - - - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration SLURP1 SLURP1 1 1 Johan den Dunnen
00385652 Fam4 PubMed: Fischer 2001 family - - Algeria - - - - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration SLURP1 SLURP1 1 1 Johan den Dunnen
00385653 Fam5 PubMed: Fischer 2001 family - - Algeria - - - - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration SLURP1 SLURP1 1 1 Johan den Dunnen
00385654 Fam6 PubMed: Fischer 2001 family - - Algeria - - - - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration SLURP1 SLURP1 1 1 Johan den Dunnen
00385655 Fam7 PubMed: Fischer 2001 family - - Algeria - - - - - MDM skin lesions lesions inguinal area body SLURP1 SLURP1 1 1 Johan den Dunnen
00385656 Fam8 PubMed: Fischer 2001 family - - Algeria - - - - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration SLURP1 SLURP1 1 1 Johan den Dunnen
00385657 Fam9 PubMed: Fischer 2001 family - - Algeria - - - - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration SLURP1 SLURP1 1 1 Johan den Dunnen
00385658 Fam10 PubMed: Fischer 2001 family - - Algeria - - - - - MDM skin lesions lesions inguinal area body SLURP1 SLURP1 1 1 Johan den Dunnen
00385659 Fam11 PubMed: Fischer 2001 family - - Algeria - - - - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration SLURP1 SLURP1 1 1 Johan den Dunnen
00385660 Fam12 PubMed: Fischer 2001 family - - Algeria - - - - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration SLURP1 SLURP1 1 1 Johan den Dunnen
00385661 Fam13 PubMed: Fischer 2001 family - - Croatia (Hrvatska) - - - - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration SLURP1 SLURP1 1 1 Johan den Dunnen
00385662 Fam14 PubMed: Fischer 2001 family - - Croatia (Hrvatska) - - - - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration SLURP1 SLURP1 1 1 Johan den Dunnen
00385663 Fam15 PubMed: Fischer 2001 family - - Croatia (Hrvatska) - - - - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration SLURP1 SLURP1 1 1 Johan den Dunnen
00385664 Fam16 PubMed: Fischer 2001 family - - Croatia (Hrvatska) - - - - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration SLURP1 SLURP1 1 1 Johan den Dunnen
00385665 Fam17 PubMed: Fischer 2001 family - - Croatia (Hrvatska) - - - - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration SLURP1 SLURP1 1 1 Johan den Dunnen
00385666 Fam18 PubMed: Fischer 2001 family - - Croatia (Hrvatska) - - - - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration SLURP1 SLURP1 1 1 Johan den Dunnen
00385667 Fam19 PubMed: Fischer 2001 family - - Croatia (Hrvatska) - - - - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration SLURP1 SLURP1 1 1 Johan den Dunnen
00385668 Fam1 PubMed: Charfeddine 2003 4-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives F yes Tunisia - - - - - MDM see paper; ..., diffuse palmoplantar keratodermas appearing shortly after birth (3–10m); <2y-transgressive pachyderma, hyperhidrosis palms and soles; transgressive hyperkeratosis progressed resulting in characteristic ‘glove and stocking’ distribution; nNail dystrophy with subungual hyperkeratosis, slight contractures fingers, conical distal phalanges SLURP1 SLURP1 1 3 Johan den Dunnen
00385669 Fam2 PubMed: Charfeddine 2003 6-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Tunisia - - - - - MDM see paper; ..., diffuse palmoplantar keratodermas appearing shortly after birth (3–10m); <2y-transgressive pachyderma, hyperhidrosis palms and soles; transgressive hyperkeratosis progressed resulting in characteristic ‘glove and stocking’ distribution; nNail dystrophy with subungual hyperkeratosis, slight contractures fingers, conical distal phalanges SLURP1 SLURP1 1 1 Johan den Dunnen
00385670 Fam3 PubMed: Charfeddine 2003 5-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Tunisia - - - - - MDM see paper; ..., diffuse palmoplantar keratodermas appearing shortly after birth (3–10m); <2y-transgressive pachyderma, hyperhidrosis palms and soles; transgressive hyperkeratosis progressed resulting in characteristic ‘glove and stocking’ distribution; nNail dystrophy with subungual hyperkeratosis, slight contractures fingers, conical distal phalanges SLURP1 SLURP1 1 2 Johan den Dunnen
00385671 Fam4 PubMed: Charfeddine 2003 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Tunisia - - - - - MDM see paper; ..., diffuse palmoplantar keratodermas appearing shortly after birth (3–10m); <2y-transgressive pachyderma, hyperhidrosis palms and soles; transgressive hyperkeratosis progressed resulting in characteristic ‘glove and stocking’ distribution; nNail dystrophy with subungual hyperkeratosis, slight contractures fingers, conical distal phalanges SLURP1 SLURP1 1 3 Johan den Dunnen
00385672 Fam5 PubMed: Charfeddine 2003 5-generation family, 1 affecteds, unaffected heterozygous carrier parents/relatives M yes Tunisia - - - - - MDM see paper; ..., diffuse palmoplantar keratodermas appearing shortly after birth (3–10m); <2y-transgressive pachyderma, hyperhidrosis palms and soles; transgressive hyperkeratosis progressed resulting in characteristic ‘glove and stocking’ distribution; nNail dystrophy with subungual hyperkeratosis, slight contractures fingers, conical distal phalanges SLURP1 SLURP1 1 1 Johan den Dunnen
00385673 Fam6 PubMed: Charfeddine 2003 3-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes Tunisia - - - - - MDM see paper; ..., diffuse palmoplantar keratodermas appearing shortly after birth (3–10m); <2y-transgressive pachyderma, hyperhidrosis palms and soles; transgressive hyperkeratosis progressed resulting in characteristic ‘glove and stocking’ distribution; nNail dystrophy with subungual hyperkeratosis, slight contractures fingers, conical distal phalanges SLURP1 SLURP1 1 2 Johan den Dunnen
00385674 Fam7 PubMed: Charfeddine 2003 4-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Tunisia - - - - - MDM see paper; ..., diffuse palmoplantar keratodermas appearing shortly after birth (3–10m); <2y-transgressive pachyderma, hyperhidrosis palms and soles; transgressive hyperkeratosis progressed resulting in characteristic ‘glove and stocking’ distribution; nNail dystrophy with subungual hyperkeratosis, slight contractures fingers, conical distal phalanges SLURP1 SLURP1 1 5 Johan den Dunnen
00385675 Fam8 PubMed: Charfeddine 2003 3-generation family, 3 affected (3F), unaffected heterozygous carrier parents/relatives F yes Tunisia - - - - - MDM see paper; ..., diffuse palmoplantar keratodermas appearing shortly after birth (3–10m); <2y-transgressive pachyderma, hyperhidrosis palms and soles; transgressive hyperkeratosis progressed resulting in characteristic ‘glove and stocking’ distribution; nNail dystrophy with subungual hyperkeratosis, slight contractures fingers, conical distal phalanges SLURP1 SLURP1 1 3 Johan den Dunnen
00385676 Fam1 PubMed: Eckl 2003 9-generation family, 13 affected (8F, 5M), unaffected heterozygous carrier parents/relatives F;M yes Palestine - - - - - MDM see paper; ... SLURP1 SLURP1 1 13 Johan den Dunnen
00385677 Fam2 PubMed: Eckl 2003 4-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - MDM see paper; ... SLURP1 SLURP1 1 2 Johan den Dunnen
00385678 Fam3 PubMed: Eckl 2003 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes United Arab Emirates Bedouin - - - - MDM see paper; ... SLURP1 SLURP1 1 1 Johan den Dunnen
00385679 Fam4 PubMed: Eckl 2003 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M - Germany - - - - - MDM see paper; ... SLURP1 SLURP1 1 4 Johan den Dunnen
00385680 Fam1 PubMed: Marrakchi 2003 7-generation family, 21 affected (10F, 11M), unaffected heterozygous carrier parents/relatives F;M yes Tunisia - - - - - MDM see paper; ... SLURP1 SLURP1 1 21 Johan den Dunnen
00385681 Fam2 PubMed: Marrakchi 2003 5-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives F;M yes Algeria - - - - - MDM see paper; ... SLURP1 SLURP1 1 4 Johan den Dunnen
00385682 Fam3 PubMed: Marrakchi 2003 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Algeria - - - - - MDM see paper; ... SLURP1 SLURP1 1 1 Johan den Dunnen
00385683 Fam4 PubMed: Marrakchi 2003 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Algeria - - - - - MDM see paper; ... SLURP1 SLURP1 1 1 Johan den Dunnen
00385688 Fam1 PubMed: Ward 2003 3-generation family, 3 affected (3M) M yes - Kurdish - - - - MDM see paper SLURP1 SLURP1 1 1 Johan den Dunnen
00385690 Fam2 PubMed: Ward 2003 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M yes Turkey - - - - - MDM see paper; ... SLURP1 SLURP1 1 2 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.