KD
MCID: KNS001
MIFTS: 56
|
Kniest Dysplasia (KD)
Categories:
Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases
|
|
MalaCards integrated aliases for Kniest Dysplasia:
Characteristics:Orphanet epidemiological data:59
kniest dysplasia
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy; OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
delayed motor milestones abnormal gait parental somatic mosaicism in 2 cases produced mild phenotype in the patients HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Eye diseases
ICD10:
34
|
CDC
:
3
Kawasaki disease (KD), also known as Kawasaki syndrome, is an acute febrile illness of unknown cause that primarily affects children younger than 5 years of age. The disease was first described in Japan by Tomisaku Kawasaki in 1967, and the first cases outside of Japan were reported in Hawaii in 1976. Clinical signs include fever, rash, swelling of the hands and feet, irritation and redness of the whites of the eyes, swollen lymph glands in the neck, and irritation and inflammation of the mouth, lips, and throat.
MalaCards based summary : Kniest Dysplasia, also known as metatropic dwarfism, type ii, is related to spondyloepiphyseal dysplasia with congenital joint dislocations and kawasaki disease, and has symptoms including large joints, wide set eyes and round flat face. An important gene associated with Kniest Dysplasia is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Focal adhesion. Affiliated tissues include bone, eye and lung, and related phenotypes are osteoarthritis and ptosis Disease Ontology : 12 An osteochondrodysplasia that has material basis in a mutation in the COL2A1 gene which results in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has symptom large joints, has symptom wide set eyes, has symptom round flat face. Genetics Home Reference : 25 Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing. NIH Rare Diseases : 53 Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing. It is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. UniProtKB/Swiss-Prot : 75 Kniest dysplasia: Moderately severe chondrodysplasia phenotype that results from mutations in the COL2A1 gene. Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss. Wikipedia : 76 Kniest Dysplasia is a rare form of dwarfism caused by a mutation in the COL2A1 gene on chromosome 12. ... more...
Description from OMIM:
156550
|
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:156550Symptoms:12
Human phenotypes related to Kniest Dysplasia:59 32 (show top 50) (show all 56)
UMLS symptoms related to Kniest Dysplasia:arthralgia, respiratory distress MGI Mouse Phenotypes related to Kniest Dysplasia:46
|
Interventional clinical trials:
Cochrane evidence based reviews: kniest dysplasia |
MalaCards organs/tissues related to Kniest Dysplasia:41
Bone,
Eye,
Lung,
Brain,
Liver,
T Cells,
Myeloid
|
Articles related to Kniest Dysplasia:(show all 38)
|
UniProtKB/Swiss-Prot genetic disease variations for Kniest Dysplasia:75
ClinVar genetic disease variations for Kniest Dysplasia:6 (show all 11)
|
Search
GEO
for disease gene expression data for Kniest Dysplasia.
|
Pathways related to Kniest Dysplasia according to KEGG:37
Pathways related to Kniest Dysplasia according to GeneCards Suite gene sharing:
|
Cellular components related to Kniest Dysplasia according to GeneCards Suite gene sharing:
Biological processes related to Kniest Dysplasia according to GeneCards Suite gene sharing:
Molecular functions related to Kniest Dysplasia according to GeneCards Suite gene sharing:
|
|