| Entry |
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| Name |
Kindler syndrome |
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| Supergrp |
Epidermolysis bullosa [DS: H01737] |
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| Description |
Kindler syndrome is a rare autosomal recessive disease characterized by blister, poikiloderma, skin atrophy, and photosensitivity.
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| Category |
Skin disease
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| Brite |
Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
Genetic or developmental disorders affecting the skin
Genetically-determined epidermolysis bullosa
EC33 Syndromic epidermolysis bullosa
H00588 Kindler syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular processes
nt06548 Integrin signaling
H00588 Kindler syndrome
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| Pathway |
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| Network |
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| Gene |
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| Comment |
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| Other DBs |
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| Reference |
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| Authors |
Sawamura D, Nakano H, Matsuzaki Y |
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| Title |
Overview of epidermolysis bullosa. |
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| Journal |
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| Reference |
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| Authors |
Jobard F, Bouadjar B, Caux F, Hadj-Rabia S, Has C, Matsuda F, Weissenbach J, Lathrop M, Prud'homme JF, Fischer J |
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| Title |
Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. |
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| Journal |
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| LinkDB |
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