Kniest Dysplasia (KD)

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OMIM 57 156550 Disease Ontology 12 DOID:0080045 MeSH 44 C537207 Orphanet 59 ORPHA485 MESH via Orphanet 45 C537207 UMLS via Orphanet 74 C0265279

ICD10 via Orphanet 34 Q77.7 MedGen 42 C0265279 KEGG 37 H02070 SNOMED-CT via HPO 69 263681008 396232000 3639002 63567004 87979003 32958008 103276001 15188001 343087000 95828007 44057004 95427009 29555009 23986001 11934000 128306009 193570009 247053007 18265008 42059000 57190000 74969002 22325002 84445001 396347007 230145002 267036007 271825005 111266001 64217002 105985007 240190009 225655006 396275006 11296007 95434006 414564002 74820003 157265008 74370006 202283002 249710008 61960001 249670005 more UMLS 73 C0265279 C3711158

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

Clinical features from OMIM:

156550

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