eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| pontocerebellar hypoplasia type 6 | ||||
| Disease ID | 1087 |
|---|---|
| Disease | pontocerebellar hypoplasia type 6 |
| Definition | A rare form of pontocerebellar hypoplasia with characteristics at birth of hypotonia, clonus, epilepsy, impaired swallowing and from infancy progressive microcephaly, spasticity and lactic acidosis. Reported in less than 10 cases to date. Caused by missense and splice site mutations in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene located to 6q16.1. Prognosis is poor, exact life expectancy is unknown but in most cases does not exceed infancy. |
| Synonym | congenital pontocerebellar hypoplasia type 6 congenital pontocerebellar hypoplasia type 6 (disorder) encephalopathy, fatal infantile, with mitochondrial respiratory chain defects fatal infantile encephalopathy with mitochondrial respiratory chain defect pch6 pch6 - pontocerebellar hypoplasia type 6 pontocerebellar hypoplasia, type 6 |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1969084 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:3) |
| Locus | Symbol | Locus(Total Locus:1) RARS2 | 6q15 |
| Disease ID | 1087 |
|---|---|
| Disease | pontocerebellar hypoplasia type 6 |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0001298 | Encephalopathy | 1 HP:0000969 | Dropsy | 1 HP:0001638 | Cardiomyopathy | 1 HP:0002448 | Progressive encephalopathy | 1 HP:0001789 | Hydrops fetalis | 1 HP:0002059 | Degeneration of cerebrum | 1 |
| Disease ID | 1087 |
|---|---|
| Disease | pontocerebellar hypoplasia type 6 |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:1) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| Pontocerebellar hypoplasia, type 6 | RARS2 | NM_020320, c.419T>G (p.F140C) | |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs147391618 | NA | 57038 | RARS2 | umls:C1969084 | CLINVAR | NA | 0.361357209 | NA | ORC3;RARS2 | 6 | 87589923 | T | C |
| rs387907048 | NA | 57038 | RARS2 | umls:C1969084 | CLINVAR | NA | 0.361357209 | NA | RARS2 | 6 | 87521475 | T | C |
| rs797045911 | NA | 57038 | RARS2 | umls:C1969084 | CLINVAR | NA | 0.361357209 | NA | RARS2 | 6 | 87520237 | TT | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
| Disease ID | 1087 |
|---|---|
| Disease | pontocerebellar hypoplasia type 6 |
| Case | (Waiting for update.) |