eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| fetal valproate syndrome | ||||
| Disease ID | 1595 |
|---|---|
| Disease | fetal valproate syndrome |
| Definition | A teratogenic disorder observed in a newborn or child of a mother who was exposed to valproic acid during pregnancy. Manifestations include musculoskeletal abnormalities, intellectual disability, spina bifida, and distinctive facial features.(NICHD) |
| Synonym | congenital malformation due to valproate dalpro, fetal effects from epival, fetal effects from fetal valproate syndrome (disorder) fetal valproic syndrome foetal valproate syndrome fvs valproic acid antenatal infection valproic acid embryopathy |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0236026 |
| SNOMED-CT | |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:7) |
| Locus | (Waiting for update.) |
| Disease ID | 1595 |
|---|---|
| Disease | fetal valproate syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:8) HP:0000160 | Narrow mouth HP:0000286 | Epicanthus HP:0000457 | Depressed nasal ridge HP:0003196 | Short nose HP:0000343 | Long philtrum HP:0001539 | Omphalocele HP:0000233 | Thin vermilion border HP:0002714 | Downturned corners of mouth |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1595 |
|---|---|
| Disease | fetal valproate syndrome |
| 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:0) | |
|---|---|
| (Waiting for update.) | |
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:0000457 | Depressed nasal ridge | MP:0004872 | absent nasal septum | absence of the structure that separates the two nasal cavities |
| HP:0000160 | Narrow mouth | MP:0000452 | abnormal mouth morphology | any structural anomaly of the oral cavity |
| HP:0002714 | Downturned corners of mouth | 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:0003196 | Short nose | MP:0002233 | abnormal nose morphology | any structural anomaly of the organ that is specialized for smell and is part of the respiratory system |
Mapped by homologous gene(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000343 | Long philtrum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002714 | Downturned corners of mouth | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000160 | Narrow mouth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001539 | Omphalocele | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000457 | Depressed nasal ridge | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000233 | Thin vermilion border | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003196 | Short nose | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000286 | Epicanthus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 1595 |
|---|---|
| Disease | fetal valproate syndrome |
| Case | (Waiting for update.) |