All individuals with variants in gene SLURP1

41 entries on 1 page. Showing entries 1 - 41.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00385649 Fam1 PubMed: Fischer 2001 family - - Algeria - - 0 - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration 1 3 Johan den Dunnen
00385650 Fam2 PubMed: Fischer 2001 family - - Algeria - - 0 - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration 1 1 Johan den Dunnen
00385651 Fam3 PubMed: Fischer 2001 family - - Algeria - - 0 - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration 1 1 Johan den Dunnen
00385652 Fam4 PubMed: Fischer 2001 family - - Algeria - - 0 - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration 1 1 Johan den Dunnen
00385653 Fam5 PubMed: Fischer 2001 family - - Algeria - - 0 - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration 1 1 Johan den Dunnen
00385654 Fam6 PubMed: Fischer 2001 family - - Algeria - - 0 - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration 1 1 Johan den Dunnen
00385655 Fam7 PubMed: Fischer 2001 family - - Algeria - - 0 - - MDM skin lesions lesions inguinal area body 1 1 Johan den Dunnen
00385656 Fam8 PubMed: Fischer 2001 family - - Algeria - - 0 - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration 1 1 Johan den Dunnen
00385657 Fam9 PubMed: Fischer 2001 family - - Algeria - - 0 - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration 1 1 Johan den Dunnen
00385658 Fam10 PubMed: Fischer 2001 family - - Algeria - - 0 - - MDM skin lesions lesions inguinal area body 1 1 Johan den Dunnen
00385659 Fam11 PubMed: Fischer 2001 family - - Algeria - - 0 - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration 1 1 Johan den Dunnen
00385660 Fam12 PubMed: Fischer 2001 family - - Algeria - - 0 - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration 1 1 Johan den Dunnen
00385661 Fam13 PubMed: Fischer 2001 family - - Croatia (Hrvatska) - - 0 - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration 1 1 Johan den Dunnen
00385662 Fam14 PubMed: Fischer 2001 family - - Croatia (Hrvatska) - - 0 - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration 1 1 Johan den Dunnen
00385663 Fam15 PubMed: Fischer 2001 family - - Croatia (Hrvatska) - - 0 - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration 1 1 Johan den Dunnen
00385664 Fam16 PubMed: Fischer 2001 family - - Croatia (Hrvatska) - - 0 - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration 1 1 Johan den Dunnen
00385665 Fam17 PubMed: Fischer 2001 family - - Croatia (Hrvatska) - - 0 - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration 1 1 Johan den Dunnen
00385666 Fam18 PubMed: Fischer 2001 family - - Croatia (Hrvatska) - - 0 - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration 1 1 Johan den Dunnen
00385667 Fam19 PubMed: Fischer 2001 family - - Croatia (Hrvatska) - - 0 - - MDM keratotic skin lesions (joints), perioral erythema, brachydactyly, nail abnormalities, hyperhidrosis, superinfection causing malodorous maceration 1 1 Johan den Dunnen
00385668 Fam1 PubMed: Charfeddine 2003 4-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives F yes Tunisia - - 0 - - 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 1 3 Johan den Dunnen
00385669 Fam2 PubMed: Charfeddine 2003 6-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Tunisia - - 0 - - 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 1 1 Johan den Dunnen
00385670 Fam3 PubMed: Charfeddine 2003 5-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Tunisia - - 0 - - 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 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 - - 0 - - 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 1 3 Johan den Dunnen
00385672 Fam5 PubMed: Charfeddine 2003 5-generation family, 1 affecteds, unaffected heterozygous carrier parents/relatives M yes Tunisia - - 0 - - 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 1 1 Johan den Dunnen
00385673 Fam6 PubMed: Charfeddine 2003 3-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes Tunisia - - 0 - - 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 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 - - 0 - - 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 1 5 Johan den Dunnen
00385675 Fam8 PubMed: Charfeddine 2003 3-generation family, 3 affected (3F), unaffected heterozygous carrier parents/relatives F yes Tunisia - - 0 - - 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 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 - - 0 - - MDM see paper; ... 1 13 Johan den Dunnen
00385677 Fam2 PubMed: Eckl 2003 4-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes Turkey - - 0 - - MDM see paper; ... 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 - 0 - - MDM see paper; ... 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 - - 0 - - MDM see paper; ... 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 - - 0 - - MDM see paper; ... 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 - - 0 - - MDM see paper; ... 1 4 Johan den Dunnen
00385682 Fam3 PubMed: Marrakchi 2003 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Algeria - - 0 - - MDM see paper; ... 1 1 Johan den Dunnen
00385683 Fam4 PubMed: Marrakchi 2003 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Algeria - - 0 - - MDM see paper; ... 1 1 Johan den Dunnen
00385684 Fam5 PubMed: Marrakchi 2003 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Algeria - - 0 - - MLYCDD see paper; ... 1 1 Johan den Dunnen
00385685 Fam6 PubMed: Marrakchi 2003 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Tunisia - - 0 - - MADA see paper; ... 1 1 Johan den Dunnen
00385686 Fam7 PubMed: Marrakchi 2003 5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Germany - - 0 - - MANSA see paper; ... 1 1 Johan den Dunnen
00385687 Fam8 PubMed: Marrakchi 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F no Scotland - - 0 - - MANSB see paper; ... 2 1 Johan den Dunnen
00385688 Fam1 PubMed: Ward 2003 3-generation family, 3 affected (3M) M yes - Kurdish - 0 - - MDM see paper 1 1 Johan den Dunnen
00385690 Fam2 PubMed: Ward 2003 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F;M yes Turkey - - 0 - - MDM see paper; ... 1 2 Johan den Dunnen
Legend   How to query