KNDLRS
MCID: KND001
MIFTS: 55
|
Kindler Syndrome (KNDLRS)
Categories:
Gastrointestinal diseases, Genetic diseases, Rare diseases, Skin diseases
|
|
MalaCards integrated aliases for Kindler Syndrome:
Characteristics:Orphanet epidemiological data:59
kindler syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;
hereditary acrokeratotic poikiloderma of kindler-weary
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
increased frequency in the ngobe-bugle tribe in the boca del toro province, on the northwestern caribbean coast of panama skin blistering and photosensitivity improve in adulthood telangiectases persist in adulthood HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Skin diseases Gastrointestinal diseases
ICD10:
34
External Ids:
|
NIH Rare Diseases
:
53
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 lung, and related phenotypes are finger syndactyly and dysphagia Disease Ontology : 12 A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling. Genetics Home Reference : 25 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 : 57 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 : 75 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 : 76 Kindler syndrome (also known as "bullous acrokeratotic poikiloderma of Kindler and Weary",) is a rare... more...
GeneReviews:
NBK349072
|
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:173650Human phenotypes related to Kindler Syndrome:59 32 (show top 50) (show all 53)
UMLS symptoms related to Kindler Syndrome:grooving of nail MGI Mouse Phenotypes related to Kindler Syndrome:46
|
Cochrane evidence based reviews: poikiloderma of kindler |
MalaCards organs/tissues related to Kindler Syndrome:41
Skin,
Eye,
Lung,
Brain,
Kidney,
Liver,
Bone
|
Articles related to Kindler Syndrome:(show top 50) (show all 115)
|
UniProtKB/Swiss-Prot genetic disease variations for Kindler Syndrome:75
ClinVar genetic disease variations for Kindler Syndrome:6 (show top 50) (show all 260)
Copy number variations for Kindler Syndrome from CNVD:7
|
Search
GEO
for disease gene expression data for Kindler Syndrome.
|
Pathways related to Kindler Syndrome according to GeneCards Suite gene sharing:
|
Cellular components related to Kindler Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Kindler Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Kindler Syndrome according to GeneCards Suite gene sharing:
|
|