eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| gnathodiaphyseal dysplasia | ||||
| Disease ID | 1379 |
|---|---|
| Disease | gnathodiaphyseal dysplasia |
| Definition | A bone dysplasia with manifestation of bone fragility, frequent bone fractures at a young age, cemento-osseous lesions of the jaw bones, bowing of tubular bones (tibia and fibula) and diaphyseal sclerosis of long bones. Autosomal dominant mode of transmission. |
| Synonym | gdd gnathodiaphyseal dysplasia syndrome gnathodiaphyseal dysplasia syndrome (disorder) gnathodiaphyseal sclerosis levin syndrome 2 osteogenesis imperfecta with unusual skeletal lesions osteogenesis imperfecta, levin type |
| Orphanet | |
| OMIM | |
| UMLS | C1833736 |
| 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) ANO5 | 11p14.3 |
| Disease ID | 1379 |
|---|---|
| Disease | gnathodiaphyseal dysplasia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:11) HP:0000938 | Decreased bone mineral density HP:0006487 | Bowing of the long bones HP:0012802 | Broad jaw HP:0002650 | Scoliosis HP:0002659 | Increased tendency to fractures HP:0000938 | Osteopenia HP:0005045 | Diaphyseal cortical sclerosis HP:0002757 | Recurrent fractures HP:0007626 | Mandibular osteomyelitis HP:0000935 | Thickened cortex of long bones HP:0006487 | Camptomelia |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1379 |
|---|---|
| Disease | gnathodiaphyseal dysplasia |
| 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 |
| rs119103234 | 15124103 | 203859 | ANO5 | umls:C1833736 | BeFree | Two missense mutations (C356R and C356G) of GDD1 were identified in the two families with GDD (the original Japanese family and a new African American family), and both missense mutations occur at the cysteine residue at amino acid 356, which is evolutionarily conserved among human, mouse, zebrafish, fruit fly, and mosquito. | 0.481357209 | 2004 | ANO5 | 11 | 22250793 | T | C,G |
| rs119103234 | NA | 203859 | ANO5 | umls:C1833736 | CLINVAR | NA | 0.481357209 | NA | ANO5 | 11 | 22250793 | T | C,G |
| rs397514736 | NA | 203859 | ANO5 | umls:C1833736 | CLINVAR | NA | 0.481357209 | NA | ANO5 | 11 | 22259652 | 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:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002659 | Increased susceptibility to fractures | MP:0009788 | increased susceptibility to bacterial infection induced morbidity/mortality | increased likelihood that an organism will display the expected moribund state caused by a bacterial invasion or from components of or toxins produced by bacteria |
| HP:0006487 | Bowing of the long bones | 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 |
| HP:0002757 | Recurrent fractures | MP:0004675 | rib fractures | a crack or break in the bones forming the bony wall of the chest |
| HP:0000935 | Thickened cortex of long bones | MP:0008156 | decreased diameter of tibia | reduced width of the cross-sectional distance that extends from one lateral edge of the tibia, through its center and to the opposite lateral edge |
Mapped by homologous gene(Total Items:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002650 | Scoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0005045 | Diaphyseal cortical sclerosis | MP:0011097 | embryonic lethality between somite formation and embryo turning, complete penetrance | death of all organisms of a given genotype in a population between somite formation and the initiation of embryo turning (Mus: E8 to less than E9) |
| HP:0000935 | Thickened cortex of long bones | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002659 | Increased susceptibility to fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000938 | Osteopenia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0007626 | Mandibular osteomyelitis | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0012802 | Broad jaw | MP:0006241 | abnormal placement of pupils | abnormal location of the pupil so that it is not in the center of the iris |
| HP:0006487 | Bowing of the long bones | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002757 | Recurrent fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 1379 |
|---|---|
| Disease | gnathodiaphyseal dysplasia |
| Case | (Waiting for update.) |