eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| pontocerebellar hypoplasia type 4 | ||||
| Disease ID | 1709 |
|---|---|
| Disease | pontocerebellar hypoplasia type 4 |
| Definition | A very rare form of PCH with prenatal onset of polyhydramnios and contractures followed by hypertonia, severe clonus, primary hypoventilation leading to an early postnatal death. Has been reported in 10 families to date. Caused by a compound heterozygosity for p.A307S plus non-sense or splice site mutations in the TSEN54 gene. There is significant overlap both in phenotype and in genotype between pontocerebellar hypoplasia types 4 and 5. Inherited in an autosomal recessive manner. |
| Synonym | congenital pontocerebellar hypoplasia type 4 congenital pontocerebellar hypoplasia type 4 (disorder) encephalopathy, fatal infantile, with olivopontocerebellar hypoplasia fatal infantile encephalopathy with olivopontocerebellar hypoplasia olivopontocerebellar hypoplasia lethal type pch4 pch4 - pontocerebellar hypoplasia type 4 pontocerebellar hypoplasia type 4 (disorder) pontocerebellar hypoplasia, type 4 young mckeever squier syndrome |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1856974 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:1) |
| Locus | Symbol | Locus(Total Locus:1) TSEN54 | 17q25.1 |
| Disease ID | 1709 |
|---|---|
| Disease | pontocerebellar hypoplasia type 4 |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1709 |
|---|---|
| Disease | pontocerebellar hypoplasia type 4 |
| 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 |
| rs113994151 | NA | 283989 | TSEN54 | umls:C1856974 | CLINVAR | NA | 0.480271442 | NA | CASKIN2;TSEN54 | 17 | 75517064 | T | C |
| rs113994152 | NA | 283989 | TSEN54 | umls:C1856974 | CLINVAR | NA | 0.480271442 | NA | TSEN54 | 17 | 75522000 | G | T |
| rs113994152 | 18711368 | 283989 | TSEN54 | umls:C1856974 | UNIPROT | tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia. | 0.480271442 | 2008 | TSEN54 | 17 | 75522000 | G | T |
| rs113994153 | NA | 283989 | TSEN54 | umls:C1856974 | CLINVAR | NA | 0.480271442 | NA | TSEN54 | 17 | 75521817 | C | T |
| rs113994154 | NA | 283989 | TSEN54 | umls:C1856974 | CLINVAR | NA | 0.480271442 | NA | TSEN54 | 17 | 75522108 | 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:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1709 |
|---|---|
| Disease | pontocerebellar hypoplasia type 4 |
| Case | (Waiting for update.) |