PedAM
Pediatric Disease Annotations & Medicines
| czech dysplasia | ||||
| Disease ID | 1624 |
|---|---|
| Disease | czech dysplasia |
| Definition | A form of skeletal dysplasia with characteristics of severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes. So far, less than 20 patients have been reported, including multiple members of five families from the Czech Republic. Stature and intelligence are normal. Radiographs reveal platyspondyly, irregular vertebral endplates, deformed femoral heads, pelvic dysplasia and narrowed intervertebral spaces. Mutations in the COL2A1 gene have been detected in several of the reported patients. Transmission is autosomal dominant. |
| Synonym | czech dysplasia metatarsal type czech dysplasia metatarsal type (disorder) czech dysplasia, metatarsal type progressive pseudorheumatoid dysplasia with hypoplastic toes pseudorheumatoid dysplasia, progressive, with hypoplastic toes spondyloarthropathy with short third and fourth toes spondyloepiphyseal dysplasia with precocious osteoarthritis |
| Orphanet | |
| OMIM | |
| UMLS | C1836683 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1624 |
|---|---|
| Disease | czech dysplasia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:17) HP:0003301 | vertebral endplate irregularity HP:0001371 | Flexion contractures of joints HP:0001507 | Abnormal growth HP:0000926 | Flattened vertebral bodies HP:0002650 | Scoliosis HP:0002812 | Coxa vara HP:0002868 | Narrow iliac wings HP:0003370 | Flat capital femoral epiphyses HP:0010743 | Shortened metatarsals HP:0001831 | Short toes HP:0008819 | Narrow neck of thigh bone HP:0010049 | Metacarpal hypoplasia HP:0002515 | Waddling gait HP:0002942 | Thoracic kyphosis HP:0002829 | Arthralgias HP:0002945 | Narrow intervertebral spaces HP:0100864 | Short femoral necks |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1624 |
|---|---|
| Disease | czech dysplasia |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:3) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121912876 | NA | 1280 | COL2A1 | umls:C1836683 | CLINVAR | NA | 0.360542884 | NA | COL2A1 | 12 | 47994041 | G | A |
| rs121912876 | 17726487 | 1280 | COL2A1 | umls:C1836683 | BeFree | The R275C mutation in the COL2A1 gene causes a specific type II collagen disorder that was recently delineated as Czech dysplasia. | 0.360542884 | 2007 | COL2A1 | 12 | 47994041 | G | A |
| rs121912876 | 19764028 | 1280 | COL2A1 | umls:C1836683 | BeFree | A specific missense mutation (c.823C > T, R275C) in the exon 13 of the COL2A1 gene, coding for the triple helical domain of the alpha 1 chain of the type II collagen, has been linked to Czech dysplasia, which is quite a unique situation among the COL2A1 disorders. | 0.360542884 | 2009 | COL2A1 | 12 | 47994041 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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FDA labeling changes(Total Drugs:0) | |
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