Kindler syndrome

Preferred Label : Kindler syndrome;

Symbol : KNDLRS;

CISMeF acronym : KNDLRS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Poikiloderma, congenital, with bullae, weary type; Bullous acrokeratotic poikiloderma of kindler and weary; Poikiloderma, hereditary acrokeratotic;

Description : Kindler syndrome is an autosomal recessive dermatosis characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling (summary by Jobard et al., 2003).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the kindlin 1 gene (KIND1, 607900.0001);

Prefixed ID : #173650;

Details

Origin ID

173650;

UMLS CUI

C0406557;

Automatic exact mappings (from CISMeF team)
- Hereditary acrokeratotic poikiloderma of Kindler-Weary [ORDO Disease]
- Kindler syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Kindler epidermolysis bullosa [ORDO Disease]
- Kindler syndrome [PASCAL descriptor]
- Kindler syndrome [DO Concept]
- Kindler's syndrome (disorder) [SNOMED CT concept]
- Poikiloderma of Kindler [MeSH concept]
- poikiloderma of kindler [MeSH Supplementary Concept]
DO Cross reference
- Kindler syndrome [DO Concept]
Genes related to phenotype
- Ferm domain-containing kindlin 1 [OMIM gene]
HPO term(s)
- Acral blistering [HPO term]
- Amniotic constriction ring [HPO term]
- Anal stenosis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Carious teeth [HPO term]
- Corneal erosion [HPO term]
- Cutaneous photosensitivity [HPO term]
- Dermal atrophy [HPO term]
- Diffuse skin atrophy [HPO term]
- Dysphagia [HPO term]
- Esophageal stenosis [HPO term]
- Fragile skin [HPO term]
- Gingivitis [HPO term]
- Grooved nails [HPO term]
- Oral leukoplakia [HPO term]
- Palmoplantar hyperkeratosis [HPO term]
- Periodontitis [HPO term]
- Phimosis [HPO term]
- Poikiloderma [HPO term]
- Ridged nail [HPO term]
- Spotty hyperpigmentation [HPO term]
- Spotty hypopigmentation [HPO term]
- Symblepharon [HPO term]
- Telangiectases in sun-exposed and nonexposed skin [HPO term]
- Telangiectasia of the skin [HPO term]
- Urethral stenosis [HPO term]
Matching ORDO disease(s)
- Kindler epidermolysis bullosa [ORDO Disease]
ORDO concept(s)
- Hereditary acrokeratotic poikiloderma of Kindler-Weary [ORDO Disease]
See also inter- (CISMeF)
- Hereditary acrokeratotic poikiloderma [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Kindler epidermolysis bullosa [ORDO Disease]
- Kindler epidermolysis bullosa [MedDRA LLT]
- Kindler syndrome [DO Concept]
- Kindler syndrome [PASCAL descriptor]
- Kindler syndrome [MedDRA LLT]
- Kindler's syndrome (disorder) [SNOMED CT concept]
- Poikiloderma of Kindler [MeSH concept]
- poikiloderma of kindler [MeSH Supplementary Concept]

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