eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| schizencephaly | ||||
| Disease ID | 132 |
|---|---|
| Disease | schizencephaly |
| Definition | A rare developmental abnormality characterized by the presence of clefs in the cerebral hemispheres. The abnormality may involve one or both cerebral hemispheres. Signs and symptoms include developmental delays, mental retardation, paralysis, presence of a small head, and seizures. |
| Synonym | cleft, schizencephalic clefts, schizencephalic cyst, schizencephalic cysts, schizencephalic schizencephalic cleft schizencephalic clefts schizencephalic cyst schizencephalic cysts schizencephalic porencephaly schizencephalies schizencephaly (disorder) schizencephaly [disease/finding] |
| Orphanet | |
| OMIM | |
| UMLS | C0266484 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:12) C0014544 | epilepsy | 5 C0033975 | psychosis | 2 C0265202 | seckel syndrome | 1 C1096063 | intractable epilepsy | 1 C0007789 | cerebral palsy | 1 C0014547 | partial epilepsy | 1 C0338596 | spastic cerebral palsy | 1 C0028768 | obsessive-compulsive disorder | 1 C0025362 | mental retardation | 1 C0042769 | virus infection | 1 C0398791 | nijmegen breakage syndrome | 1 C0005586 | bipolar disorder | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:4) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:4) |
| Disease ID | 132 |
|---|---|
| Disease | schizencephaly |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:11) HP:0002353 | EEG abnormality HP:0001263 | Global developmental delay HP:0001250 | Seizures HP:0001257 | Spasticity HP:0007370 | Aplasia/Hypoplasia of the corpus callosum HP:0000486 | Strabismus HP:0001269 | Hemiparesis HP:0002132 | Porencephaly HP:0010636 | Schizencephaly HP:0002510 | Spastic tetraplegia HP:0001249 | Intellectual disability |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:9) HP:0000709 | Psychosis | 2 HP:0100842 | Septo-optic dysplasia | 2 HP:0007302 | Bipolar disorder | 1 HP:0001249 | Mental retardation | 1 HP:0001269 | Hemiparesis | 1 HP:0100021 | Cerebral palsy | 1 HP:0000722 | Obsessive compulsive disorder | 1 HP:0001263 | Developmental retardation | 1 HP:0001331 | Agenesis of the septum pellucidum | 1 |
| Disease ID | 132 |
|---|---|
| Disease | schizencephaly |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) |
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 |
| rs104894047 | NA | 6469 | SHH | umls:C0266484 | CLINVAR | NA | 0.240271442 | NA | SHH | 7 | 155803420 | C | T |
| rs199823175 | NA | 6496 | SIX3 | umls:C0266484 | CLINVAR | NA | 0.360271442 | NA | SIX3;SIX3-AS1 | 2 | 44942213 | G | T |
| rs387906867 | NA | 6496 | SIX3 | umls:C0266484 | CLINVAR | NA | 0.360271442 | NA | SIX3;SIX3-AS1 | 2 | 44942489 | G | T |
| rs387906868 | NA | 6496 | SIX3 | umls:C0266484 | CLINVAR | NA | 0.360271442 | NA | SIX3;SIX3-AS1 | 2 | 44942603 | G | T |
| rs587777379 | NA | 1282 | COL4A1 | umls:C0266484 | CLINVAR | NA | 0.360271442 | NA | COL4A1 | 13 | 110166277 | 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:0007370 | Aplasia/Hypoplasia of the corpus callosum | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0001263 | Global developmental delay | MP:0002084 | abnormal developmental patterning | abnormal systematic arrangement of the developing body along an axis |
Mapped by homologous gene(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| 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:0001257 | Spasticity | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0010636 | Schizencephaly | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0007370 | Aplasia/Hypoplasia of the 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:0001250 | Seizures | 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:0002510 | Spastic tetraplegia | 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:0002353 | EEG abnormality | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0000486 | Strabismus | 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:0002132 | Porencephaly | MP:0013906 | absent embryonic telencephalon | absence of the paired diverticula of the embryonic telencephalon, from which the forebrain develops |
| HP:0001269 | Hemiparesis | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| Disease ID | 132 |
|---|---|
| Disease | schizencephaly |
| Case | (Waiting for update.) |