eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| childhood apraxia of speech | ||||
| Disease ID | 1971 |
|---|---|
| Disease | childhood apraxia of speech |
| Synonym | 1s, speech-language disorder apraxia, developmental verbal apraxias, developmental verbal developmental verbal apraxia developmental verbal apraxias developmental verbal dyspraxia developmental verbal dyspraxia (disorder) developmental verbal dyspraxias disorder 1, speech-language disorder 1s, speech-language dvd - developmental verbal apraxia dyspraxia, developmental verbal dyspraxias, developmental verbal spch1 speech and language disorder with orofacial dyspraxia speech language disorder 1 speech-language disorder 1 speech-language disorder 1s verbal apraxia, developmental verbal apraxias, developmental verbal dyspraxia, developmental verbal dyspraxias, developmental |
| Orphanet | |
| OMIM | |
| UMLS | C0750927 |
| SNOMED-CT | |
| 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) FOXP2 | 7q31.1 |
| Disease ID | 1971 |
|---|---|
| Disease | childhood apraxia of speech |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:5) HP:0000750 | Late-onset speech development HP:0002134 | Abnormality of the basal ganglia HP:0002546 | Incomprehensible speech HP:0000271 | Abnormal face HP:0007301 | Oromotor apraxia |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1971 |
|---|---|
| Disease | childhood apraxia of speech |
| 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 |
| rs121908377 | NA | 93986 | FOXP2 | umls:C0750927 | CLINVAR | NA | 0.483800186 | NA | FOXP2 | 7 | 114662075 | G | A |
| rs121908377 | 22434823 | 93986 | FOXP2 | umls:C0750927 | BeFree | This inhibition is diminished by two distinct FOXP2 point mutations, R553H and R328X, which were previously found in families affected by developmental verbal dyspraxia. | 0.483800186 | 2012 | FOXP2 | 7 | 114662075 | G | A |
| rs121908378 | NA | 93986 | FOXP2 | umls:C0750927 | CLINVAR | NA | 0.483800186 | NA | FOXP2 | 7 | 114642616 | C | T |
| rs121908378 | 22434823 | 93986 | FOXP2 | umls:C0750927 | BeFree | This inhibition is diminished by two distinct FOXP2 point mutations, R553H and R328X, which were previously found in families affected by developmental verbal dyspraxia. | 0.483800186 | 2012 | FOXP2 | 7 | 114642616 | C | T |
| rs75391579 | 11397328 | 2592 | GALT | umls:C0750927 | BeFree | We conclude that homozygosity for Q188R mutations in the GALT gene is a significant risk factor for DVD. | 0.000271442 | 2000 | GALT | 9 | 34648170 | A | G |
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:0000750 | Delayed speech and language development | MP:0012251 | abnormal diaphragm development | malformation or incomplete differentiation of the thin musculomembranous barrier separating the abdominal and thoracic cavities and functioning in respiration |
| HP:0000271 | Abnormality of the face | MP:0009889 | persistence of medial edge epithelium during palatal shelf fusion | palatal shelves meet at the midline during development but do not adhere along the medial edge epithelia, and fail to form the midline epithelial seam |
Mapped by homologous gene(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002134 | Abnormality of the basal ganglia | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0002546 | Incomprehensible speech | MP:0013600 | testis degeneration | a retrogressive impairment of function or destruction of either or both of the male reproductive glands |
| HP:0000750 | Delayed speech and language development | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000271 | Abnormality of the face | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| Disease ID | 1971 |
|---|---|
| Disease | childhood apraxia of speech |
| Case | (Waiting for update.) |