Details of Disease

General Information of Disease (ID: DIS8AP9J)

Disease Name Kindler syndrome
Synonyms
congenital bullous poikiloderma; KINDLER syndrome; bullous acrokeratotic poikiloderma of Kindler and Weary; poikiloderma, hereditary acrokeratotic; KNDLRS; poikiloderma, congenital, with bullae, Weary type; poikiloderma of Kindler; Kindler syndrome; KS
Definition
Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.
Disease Hierarchy
DIS3PBSM: Inherited epidermolysis bullosa
DIS8AP9J: Kindler syndrome
Disease Identifiers
MONDO ID
MONDO_0008260
MESH ID
C536321
UMLS CUI
C0406557
OMIM ID
173650
MedGen ID
96060
Orphanet ID
2908
SNOMED CT ID
238836000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
COL7A1 TTBCOKN Strong Genetic Variation [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FBLIM1 OTFHXMON Strong Biomarker [2]
FERMT1 OT626PBA Definitive Autosomal recessive [3]
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References

1 Exclusion of COL7A1 mutation in Kindler syndrome.J Am Acad Dermatol. 2002 Mar;46(3):447-50. doi: 10.1067/mjd.2002.117523.
2 Localization and potential function of kindlin-1 in periodontal tissues.Eur J Oral Sci. 2009 Oct;117(5):518-27. doi: 10.1111/j.1600-0722.2009.00651.x.
3 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.