PedAM
Pediatric Disease Annotations & Medicines
| megalencephaly | ||||
| Disease ID | 410 |
|---|---|
| Disease | megalencephaly |
| Definition | A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with HYDROCEPHALUS; SUBDURAL EFFUSION; ARACHNOID CYSTS; or is part of a genetic condition (e.g., ALEXANDER DISEASE; SOTOS SYNDROME). |
| Synonym | macrencephaly macrocephalies macrocephalus macrocephaly macrocephaly (disorder) macrocrania macroencephaly megacephalies megacephaly megalencephalies megalencephaly [disease/finding] megalocephalies megalocephaly |
| Orphanet | |
| DOID | |
| ICD10 | |
| UMLS | C0221355 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 410 |
|---|---|
| Disease | megalencephaly |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:18) HP:0000268 | Dolichocephaly HP:0002007 | Frontal bossing HP:0000235 | Abnormality of the fontanelles or cranial sutures HP:0001249 | Mental retardation HP:0000470 | Short neck HP:0000269 | Prominent occiput HP:0000256 | Macrocephaly HP:0001249 | Intellectual disability HP:0001631 | Atrial septal defect HP:0000307 | Pointed chin HP:0000053 | Macroorchidism HP:0002750 | Delayed skeletal maturation HP:0002857 | Genu valgum HP:0000040 | Long penis HP:0001956 | Truncal obesity HP:0000431 | Wide nasal bridge HP:0000490 | Deeply set eye HP:0001355 | Macrencephaly |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0000256 | Macrocrania | 1 HP:0001263 | Developmental retardation | 1 HP:0001250 | Seizures | 1 HP:0000717 | Autism | 1 HP:0002415 | Degeneration of white matter of brain | 1 |
| Disease ID | 410 |
|---|---|
| Disease | megalencephaly |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908671 | 15940380 | 4041 | LRP5 | umls:C0221355 | BeFree | A missense mutation 640G-->A (A214T) in the low-density lipoprotein receptor-related protein 5 (LRP5) gene was found in all affected individuals analyzed, including cases in whom craniosynostosis, a mild developmental delay, and/or macrocephaly is observed. | 0.000271442 | 2005 | LRP5 | 11 | 68357801 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
Chemical(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA approved drug and dosage information(Total Drugs:0) | |
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| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
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| (Waiting for update.) | |