eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| pontocerebellar hypoplasia type 1 | ||||
| Disease ID | 1665 |
|---|---|
| Disease | pontocerebellar hypoplasia type 1 |
| Definition | PCH1 often has prenatal characteristics of polyhydramnios with arthrogryposis multiplex congenita. Neonates with PCH1 present with hypotonia, impaired swallowing with consequent feeding difficulties and progressive microcephaly which mostly develops postnatally. Subsequently a severe psychomotor deficit becomes apparent. The clinical course is severe. About 40 patients with PCH1 have been reported. To date recessive mutations have been noted in the EXOSC3 gene and in single cases recessive mutations have been found in the tRNA splicing endonuclease homolog 54 (TSEN54), mitochondrial arginyl-transfer RNA synthetase (RARS2), and in the vaccinia-related kinase 1 (VRK1) gene. PCH1 has an autosomal recessive transmission. |
| Synonym | congenital pontocerebellar hypoplasia type 1 congenital pontocerebellar hypoplasia type 1 (disorder) norman disease pch1 pch1 - pontocerebellar hypoplasia type 1 pch1a pontocerebellar hypoplasia with anterior horn cell disease pontocerebellar hypoplasia with infantile spinal muscular atrophy pontocerebellar hypoplasia, type 1a |
| Orphanet | |
| OMIM | |
| UMLS | C1843504 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:5) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:5) |
| Disease ID | 1665 |
|---|---|
| Disease | pontocerebellar hypoplasia type 1 |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1665 |
|---|---|
| Disease | pontocerebellar hypoplasia type 1 |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137853063 | NA | 7443 | VRK1 | umls:C1843504 | CLINVAR | NA | 0.360542884 | NA | VRK1 | 14 | 96876033 | C | T |
| rs141138948 | 23975261 | 51010 | EXOSC3 | umls:C1843504 | BeFree | Whole exome sequencing in two-generational kindred from Bangladesh with early onset spasticity, mild intellectual disability, distal amyotrophy, and cerebellar atrophy transmitted as an autosomal recessive trait identified the following two missense mutations in the EXOSC3 gene: a novel p.V80F mutation and a known p.D132A change previously associated with mild variants of pontocerebellar hypoplasia type 1. | 0.241628651 | 2013 | EXOSC3 | 9 | 37783993 | T | G |
| rs371295780 | NA | 7443 | VRK1 | umls:C1843504 | CLINVAR | NA | 0.360542884 | NA | VRK1 | 14 | 96847326 | A | G |
| rs374550999 | 23975261 | 51010 | EXOSC3 | umls:C1843504 | BeFree | Whole exome sequencing in two-generational kindred from Bangladesh with early onset spasticity, mild intellectual disability, distal amyotrophy, and cerebellar atrophy transmitted as an autosomal recessive trait identified the following two missense mutations in the EXOSC3 gene: a novel p.V80F mutation and a known p.D132A change previously associated with mild variants of pontocerebellar hypoplasia type 1. | 0.241628651 | 2013 | EXOSC3 | 9 | 37784807 | C | A |
| rs387906830 | NA | 7443 | VRK1 | umls:C1843504 | CLINVAR | NA | 0.360542884 | NA | VRK1 | 14 | 96852853 | C | T |
| rs387907196 | 23883322 | 51010 | EXOSC3 | umls:C1843504 | BeFree | Homozygous EXOSC3 mutation c.92G→C, p.G31A is a founder mutation causing severe pontocerebellar hypoplasia type 1 among the Czech Roma. | 0.241628651 | 2014 | EXOSC3 | 9 | 37784953 | C | G |
| rs772731615 | NA | 7443 | VRK1 | umls:C1843504 | CLINVAR | NA | 0.360542884 | NA | VRK1 | 14 | 96860628 | 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) |
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| (Waiting for update.) |
| Disease ID | 1665 |
|---|---|
| Disease | pontocerebellar hypoplasia type 1 |
| Case | (Waiting for update.) |