eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| diaphanospondylodysostosis | ||||
| Disease ID | 1998 |
|---|---|
| Disease | diaphanospondylodysostosis |
| Definition | Diaphanospondylodysostosis has characteristics of absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests and cleft palate. As some patients were born to consanguineous parents, this disorder is likely to be transmitted as an autosomal recessive trait. The patients are stillborn or die soon after birth of respiratory insufficiency. |
| Synonym | diaphanospondylodysostosis (disorder) vertebral ossification, defect in, with nephrogenic rests |
| Orphanet | |
| OMIM | |
| UMLS | C1842691 |
| 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) BMPER | 7p14.3 |
| Disease ID | 1998 |
|---|---|
| Disease | diaphanospondylodysostosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:11) HP:0005562 | Multiple renal cysts HP:0000470 | Short neck HP:0000175 | Cleft palate HP:0004599 | Absent or minimally ossified vertebral bodies HP:0005640 | Abnormal vertebral segmentation and fusion HP:0000921 | Missing ribs HP:0003275 | Narrow pelvis bone HP:0002475 | Myelomeningocele HP:0100625 | Enlarged thorax HP:0002098 | Respiratory distress HP:0010306 | Short thorax |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1998 |
|---|---|
| Disease | diaphanospondylodysostosis |
| 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 |
| rs387906992 | NA | 168667 | BMPER | umls:C1842691 | CLINVAR | NA | 0.360542884 | NA | BMPER | 7 | 34055301 | C | T |
| rs387906993 | NA | 168667 | BMPER | umls:C1842691 | CLINVAR | NA | 0.360542884 | NA | BMPER | 7 | 34078887 | C | T |
| rs387906994 | NA | 168667 | BMPER | umls:C1842691 | CLINVAR | NA | 0.360542884 | NA | BMPER | 7 | 34085985 | T | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0005562 | Multiple renal cysts | MP:0000522 | kidney cortex cysts | abnormal membranous sacs appearing in the outer portion of the kidney located between the renal capsule and the renal medulla and involved in ultrafiltration, containing the renal corpuscles, the renal tubules (except for parts of the loop of Henle which |
| HP:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| HP:0000470 | Short neck | MP:0012720 | elongated neck | increased length of the neck |
| HP:0002098 | Respiratory distress | MP:0001954 | respiratory distress | physical difficulty or inability to breathe; shortness of breath |
| HP:0003275 | Narrow pelvis bone | MP:0008272 | abnormal endochondral bone ossification | anomaly in the process of the formation of bone by the replacement of cartilage tissue with mineralized bone |
| HP:0005640 | Abnormal vertebral segmentation and fusion | MP:0004609 | vertebral fusion | the union of one or more vertebrae into a single structure |
| HP:0000921 | Missing ribs | MP:0004673 | splayed ribs | any deviation from the normal curvature of the ribs such that the ribs are turned outward |
Mapped by homologous gene(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0005562 | Multiple renal cysts | MP:0011108 | embryonic lethality during organogenesis, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| HP:0002475 | Myelomeningocele | MP:0013309 | adrenal gland cyst | presence of fluid-filled usually benign growths in the adrenal gland |
| HP:0004599 | Absent or minimally ossified vertebral bodies | MP:0013178 | tail necrosis | morphological changes resulting from pathological death of tail tissue; usually due to irreversible damage |
| HP:0005640 | Abnormal vertebral segmentation and fusion | MP:0013207 | absent endoderm | absence of the innermost of the three primary germ layers of the embryo (the others being mesoderm and ectoderm) that is formed during gastrulation |
| HP:0003275 | Narrow pelvis bone | MP:0014152 | absent exorbital lacrimal gland | absence of the large extra-orbital lacrimal gland that, in mice, is normally located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland |
| HP:0010306 | Short thorax | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000470 | Short neck | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000175 | Cleft palate | 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:0002098 | Respiratory distress | MP:0014198 | absent pituitary infundibular stalk | absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland |
| HP:0100625 | Enlarged thorax | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000921 | Missing ribs | 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 |
| Disease ID | 1998 |
|---|---|
| Disease | diaphanospondylodysostosis |
| Case | (Waiting for update.) |