Kindler Syndrome (KNDLRS)

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Disease Ontology 12 DOID:0060472 OMIM 58 173650 KEGG 38 H00588 MeSH 45 C536321 D012868 MESH via Orphanet 46 C536321 ICD10 via Orphanet 35 Q81.8 Q82.8

UMLS via Orphanet 75 C0406556 C0406557 Orphanet 60 ORPHA2907 ORPHA2908 MedGen 43 C0406556 C0406557 SNOMED-CT via HPO 70 103276001 103605005 119292006 122483006 126485001 126883004 127559009 13758004 14582003 15188001 165397008 16761005 18718003 19988008 202281000 20255002 204203001 236647003 237836003 238810007 238879003 24606006 246957002 247427007 247441003 247472004 249769001 25374005 253854008 254679001 254683001 255109008 2556008 25694009 258211005 268251006 271737000 271760008 271768001 271811009 277797007 281104002 285305004 288939007 28899001 300268000 34048007 343087000 35580009 37719003 39034005 398057008 399979006 400190005 402685001 402815007 40739000 413921009 414603003 41565005 43116000 443871003 444827008 46742003 47002008 48069004 50792001 53619000 56893005 62909004 63305008 64226004 64305001 64634000 66383009 66551002 67787004 700189007 70114006 706885006 70819003 75547007 76618002 7847004 80967001 86276007 86735004 87715008 87866006 88151007 90128006 90216006 9187004 93595006 94684003 95735008 95828007 9826008 more UMLS 74 C0032827 C0406557

NIH Rare Diseases : ⁵⁴ Kindler syndromeis a rare type of epidermolysis bullosa, a group of inherited conditions that cause fragile and blistering skin. Kindler syndrome causes skin to blister beginning in early infancy. Other symptoms may include increased sensitivity to light (photosensitivity); patchy discoloration of the the skin and small clusters of blood vessels (poikiloderma); thickening and hardening of the skin on the palms of the hands and soles of the feet (hyperkeratosis); and an increased risk for squamous cell carcinoma. The condition can also affect the moist lining of the mouth, eyes, esophagus, intestines, genitals, and urinary system. Kindler syndrome is caused by mutations in the FERMT1 gene (also called the KIND1 gene) and is inherited in an autosomal recessive manner. Treatment consists of avoiding skin injury, limiting sun exposure, and carefully tending to blisters (often with antibiotics).

MalaCards based summary : Kindler Syndrome, also known as poikiloderma of kindler, is related to epidermolysis bullosa and skin atrophy, and has symptoms including grooving of nail An important gene associated with Kindler Syndrome is FERMT1 (Fermitin Family Member 1), and among its related pathways/superpathways are Collagen chain trimerization and Degradation of the extracellular matrix. Affiliated tissues include skin, eye and bone, and related phenotypes are ichthyosis and palmoplantar keratoderma

Disease Ontology : ¹² A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling.

Genetics Home Reference : ²⁶ Kindler syndrome is a rare type of epidermolysis bullosa, which is a group of genetic conditions that cause the skin to be very fragile and to blister easily.

OMIM : ⁵⁸ Kindler syndrome is an autosomal recessive dermatosis characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling (summary by Jobard et al., 2003). (173650)

UniProtKB/Swiss-Prot : ⁷⁶ Kindler syndrome: An autosomal recessive skin disorder characterized by skin blistering, photosensitivity, progressive poikiloderma, and extensive skin atrophy. Additional clinical features include gingival erosions, ocular, esophageal, gastrointestinal and urogenital involvement, and an increased risk of mucocutaneous malignancy.

Wikipedia : ⁷⁷ Kindler syndrome (also known as "bullous acrokeratotic poikiloderma of Kindler and Weary",) is a rare... more...

GeneReviews: NBK349072

Clinical features from OMIM:

173650

Search Clinical Trials , NIH Clinical Center for Kindler Syndrome

Search GEO for disease gene expression data for Kindler Syndrome.