eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| autosomal dominant brachyolmia | ||||
| Disease ID | 1453 |
|---|---|
| Disease | autosomal dominant brachyolmia |
| Definition | A relatively severe form of brachyolmia with characteristics of short-trunk short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease in the spine, large joints and interphalangeal joints becomes manifest in adulthood. The precise prevalence of this form of brachyolmia is not known. About 30 cases have been reported. Patients with Brachyolmia type 3 generally have a normal birth weight and length. Heterozygous mutations in the TRPV4 gene (12q24.11) are responsible. Autosomal dominant mode of inheritance. |
| Synonym | autosomal dominant brachyolmia (disorder) bcym3 brachyolmia type 3 brachyolmia, autosomal dominant brachyrachia brachyrachia (short spine dysplasia) brachyrachia (short spine dysplasia) (disorder) |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0432227 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) TRPV4 | 12q24.11 |
| Disease ID | 1453 |
|---|---|
| Disease | autosomal dominant brachyolmia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:6) HP:0000944 | Abnormality of the metaphyses HP:0002751 | Kyphoscoliosis HP:0004322 | Short stature HP:0000926 | Platyspondyly HP:0004570 | Increased vertebral height HP:0010306 | Short thorax |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1453 |
|---|---|
| Disease | autosomal dominant brachyolmia |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121912632 | 24677493 | 59341 | TRPV4 | umls:C0432227 | BeFree | The purpose of this study was to describe a large Swedish family with brachyolmia type 3 due to a heterozygous TRPV4 mutation c.1847G>A (p.R616Q) in 11 individuals. | 0.481628651 | 2014 | TRPV4 | 12 | 109792407 | C | T |
| rs121912632 | NA | 59341 | TRPV4 | umls:C0432227 | CLINVAR | NA | 0.481628651 | NA | TRPV4 | 12 | 109792407 | C | T |
| rs121912633 | NA | 59341 | TRPV4 | umls:C0432227 | CLINVAR | NA | 0.481628651 | NA | TRPV4 | 12 | 109792396 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0004570 | Increased vertebral height | MP:0006394 | abnormal vertebral epiphyseal plate morphology | any structural anomaly of the lateral cartilaginous centers of ossification; may be found on the lateral, upper, and/or lower surfaces of the vertebrae at different times during development |
| HP:0000944 | Abnormality of the metaphyses | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
Mapped by homologous gene(Total Items:6) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000926 | Platyspondyly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0010306 | Short thorax | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002751 | Kyphoscoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0004570 | Increased vertebral height | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000944 | Abnormality of the metaphyses | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1453 |
|---|---|
| Disease | autosomal dominant brachyolmia |
| Case | (Waiting for update.) |