eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| septooptic dysplasia | ||||
| Disease ID | 1433 |
|---|---|
| Disease | septooptic dysplasia |
| Definition | A very rare congenital syndrome characterized by hypoplasia of the optic nerve, impaired vision, absence of the septum pellucidum and hypopituitarism. |
| Synonym | dysplasia, septooptic dysplasias, septooptic septo optic dysplasia septo optic dysplasia with growth hormone deficiency septo-optic dysplasia septo-optic dysplasia (disorder) septo-optic dysplasia [disease/finding] septo-optic dysplasia sequence septo-optic dysplasia sequence (disorder) septo-optic dysplasia with growth hormone deficiency septooptic dysplasias syndrome, de morsier |
| Orphanet | |
| OMIM | |
| UMLS | C0338503 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:13) C0878544 | cardiomyopathy | 1 C0013338 | pituitary dwarfism | 1 C0007193 | dilated cardiomyopathy | 1 C0241961 | renal angiomyolipoma | 1 C0020619 | hypogonadism | 1 C0020459 | hyperinsulinism | 1 C0037769 | infantile spasms | 1 C0013338 | growth hormone deficiency | 1 C0013338 | pituitary dwarf | 1 C0022735 | hypogonadotropic hypogonadism | 1 C0206633 | angiomyolipoma | 1 C0795690 | omphalocele | 1 C0034012 | delayed puberty | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:6) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:26) 1822 | ATN1 | 1.431 | DISEASES 551 | AVP | 3.136 | DISEASES 55636 | CHD7 | 1.245 | DISEASES 80712 | ESX1 | 7.254 | DISEASES 2253 | FGF8 | 2.256 | DISEASES 2260 | FGFR1 | 2.329 | DISEASES 27022 | FOXD3 | 1.579 | DISEASES 8928 | FOXH1 | 2.219 | DISEASES 2736 | GLI2 | 2.972 | DISEASES 10660 | LBX1 | 1.456 | DISEASES 9355 | LHX2 | 2.486 | DISEASES 8022 | LHX3 | 5.604 | DISEASES 4082 | MARCKS | 1.688 | DISEASES 4519 | MT-CYB | 1.061 | DISEASES 5015 | OTX2 | 3.455 | DISEASES 5076 | PAX2 | 1.013 | DISEASES 5080 | PAX6 | 2.121 | DISEASES 5449 | POU1F1 | 5.262 | DISEASES 6657 | SOX2 | 4.011 | DISEASES 6658 | SOX3 | 5.596 | DISEASES 27286 | SRPX2 | 1.559 | DISEASES 246744 | STH | 1.214 | DISEASES 9095 | TBX19 | 3.76 | DISEASES 7050 | TGIF1 | 2.624 | DISEASES 7088 | TLE1 | 1.771 | DISEASES 11023 | VAX1 | 2.897 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1433 |
|---|---|
| Disease | septooptic 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:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs148480919 | 22319038 | 2260 | FGFR1 | umls:C0338503 | BeFree | Three patients with SOD had heterozygous mutations in FGFR1; these were either shown to alter receptor signaling (p.S450F, p.P483S) or predicted to affect splicing (c.336C>T, p.T112T). | 0.120542884 | 2012 | FGFR1 | 8 | 38429704 | G | A |
| rs28936702 | 9620767 | 8820 | HESX1 | umls:C0338503 | UNIPROT | Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. | 0.456869122 | 1998 | HESX1 | 3 | 57198277 | G | A |
| rs28936702 | NA | 8820 | HESX1 | umls:C0338503 | CLINVAR | NA | 0.456869122 | NA | HESX1 | 3 | 57198277 | G | A |
| rs28936702 | 11748154 | 8820 | HESX1 | umls:C0338503 | BeFree | Although HESX1(R160C) has only been shown to be associated with the SOD phenotype in children homozygous for the mutation, HESX1(R160C) can inhibit DNA binding by wild-type HESX1 both in vitro and in vivo in cell culture. | 0.456869122 | 2001 | HESX1 | 3 | 57198277 | G | A |
| rs752434998 | NA | 8820 | HESX1 | umls:C0338503 | CLINVAR | NA | 0.456869122 | NA | HESX1 | 3 | 57198243 | TG | - |
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:0001331 | Absent septum pellucidum | MP:0012004 | abnormal septum pellucidum morphology | any structural anomaly of the thin, triangular, vertical membrane separating the anterior horns of the left and right lateral ventricles of the septum, which has strong projections to hypothalamic and midbrain regions and receives projections from the hip |
| HP:0001274 | Agenesis of corpus callosum | MP:0013808 | abnormal tunnel of Corti morphology | any structrual anomaly of the triangular, fluid-filled space normally found between the inner and outer rows of supporting pillar cells in the organ of Corti |
| HP:0007766 | Optic disc hypoplasia | MP:0008259 | abnormal optic disc morphology | any structural anomaly of the area in the retina where all of the axons of the ganglion cells exit the retina to form the optic nerve |
| HP:0000609 | Optic nerve hypoplasia | MP:0012090 | midbrain hypoplasia | underdevelopment or reduced size, usually due to a reduced number of cells, of the brain region derived from the middle of the three cerebral vesicles of the embryo; this region controls sensory and motor functions in the adult, including eye movement and |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
| HP:0010627 | Anterior pituitary hypoplasia | 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:0000824 | Growth hormone deficiency | MP:0003965 | abnormal pituitary hormone level | aberration in the blood or tissue concentration of any of the hormones secreted by the pituitary |
Mapped by homologous gene(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000873 | Diabetes insipidus | 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:0010442 | Polydactyly | 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:0010627 | Anterior pituitary hypoplasia | 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:0001263 | Global developmental delay | 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:0000824 | Growth hormone deficiency | 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:0001274 | Agenesis of corpus callosum | 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:0000609 | Optic nerve hypoplasia | 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:0007766 | Optic disc hypoplasia | 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: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:0001331 | Absent septum pellucidum | 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:0009381 | Short finger | 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 | 1433 |
|---|---|
| Disease | septooptic dysplasia |
| Case | (Waiting for update.) |