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	pontocerebellar hypoplasia

Disease ID	1288
Disease	pontocerebellar hypoplasia
Definition	Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare neurodegenerative disorders caused by genetic mutations and characterised by progressive atrophy of various parts of the brain such as the cerebellum or brainstem (particularly the pons).[1] Where known, these disorders are inherited in an autosomal recessive fashion. There is no known cure for PCH.[2] - Wikipedia Reference: https://en.wikipedia.org/wiki/pontocerebellar hypoplasia
Synonym	congenital pontocerebellar hypoplasia congenital pontocerebellar hypoplasia (disorder)
DOID	DOID:0060264
UMLS	C0266468
SNOMED-CT	SNOMEDCT_US_2016_09_01:45163000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:4) C0026847 \| spinal muscular atrophy \| 2 C0026846 \| muscular atrophy \| 2 C0014544 \| epilepsy \| 1 C0013421 \| dystonia \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:10) 271 \| AMPD2 \| GHR 283989 \| TSEN54 \| GHR;UNIPROT 51091 \| SEPSECS \| GHR 79042 \| TSEN34 \| GHR;UNIPROT 57038 \| RARS2 \| GHR;UNIPROT 80746 \| TSEN2 \| GHR;UNIPROT 5119 \| CHMP1A \| GHR 7443 \| VRK1 \| GHR;UNIPROT 51010 \| EXOSC3 \| GHR 10978 \| CLP1 \| GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:81) 27350 \| APOBEC3C \| 2.987 \| DISEASES 55210 \| ATAD3A \| 3.127 \| DISEASES 219293 \| ATAD3C \| 3.736 \| DISEASES 6314 \| ATXN7 \| 1.293 \| DISEASES 55814 \| BDP1 \| 2.6 \| DISEASES 7439 \| BEST1 \| 1.344 \| DISEASES 149466 \| C1orf210 \| 2.326 \| DISEASES 721 \| C4B \| 1.828 \| DISEASES 8573 \| CASK \| 2.231 \| DISEASES 875 \| CBS \| 1.571 \| DISEASES 80184 \| CEP290 \| 1.668 \| DISEASES 5119 \| CHMP1A \| 3.343 \| DISEASES 1363 \| CPE \| 1.36 \| DISEASES 1373 \| CPS1 \| 2.78 \| DISEASES 54677 \| CROT \| 2.892 \| DISEASES 1736 \| DKC1 \| 1.63 \| DISEASES 8788 \| DLK1 \| 1.35 \| DISEASES 285489 \| DOK7 \| 2.037 \| DISEASES 51010 \| EXOSC3 \| 5.929 \| DISEASES 11340 \| EXOSC8 \| 3.381 \| DISEASES 9679 \| FAM53B \| 3.119 \| DISEASES 2175 \| FANCA \| 1.112 \| DISEASES 79147 \| FKRP \| 1.633 \| DISEASES 5348 \| FXYD1 \| 1.697 \| DISEASES 2778 \| GNAS \| 2.177 \| DISEASES 10243 \| GPHN \| 1.908 \| DISEASES 164045 \| HFM1 \| 2.854 \| DISEASES 3122 \| HLA-DRA \| 1.854 \| DISEASES 9636 \| ISG15 \| 1.492 \| DISEASES 23210 \| JMJD6 \| 1.68 \| DISEASES 3785 \| KCNQ2 \| 1.16 \| DISEASES 3908 \| LAMA2 \| 3.167 \| DISEASES 378938 \| MALAT1 \| 1.216 \| DISEASES 57380 \| MRS2 \| 1.988 \| DISEASES 51199 \| NIN \| 2.018 \| DISEASES 54475 \| NLE1 \| 1.728 \| DISEASES 654364 \| NME1-NME2 \| 1.867 \| DISEASES 4831 \| NME2 \| 1.37 \| DISEASES 5048 \| PAFAH1B1 \| 1.562 \| DISEASES 23022 \| PALLD \| 2.179 \| DISEASES 56666 \| PANX2 \| 2.655 \| DISEASES 27445 \| PCLO \| 3.35 \| DISEASES 5225 \| PGC \| 1.616 \| DISEASES 493911 \| PHOSPHO2 \| 4.996 \| DISEASES 79156 \| PLEKHF1 \| 2.77 \| DISEASES 5367 \| PMCH \| 4.922 \| DISEASES 55624 \| POMGNT1 \| 1.867 \| DISEASES 10585 \| POMT1 \| 1.952 \| DISEASES 56980 \| PRDM10 \| 2.227 \| DISEASES 256297 \| PTF1A \| 1.29 \| DISEASES 57038 \| RARS2 \| 6.556 \| DISEASES 10179 \| RBM7 \| 4.441 \| DISEASES 9939 \| RBM8A \| 1.193 \| DISEASES 3516 \| RBPJ \| 1.312 \| DISEASES 5649 \| RELN \| 1.188 \| DISEASES 23322 \| RPGRIP1L \| 1.928 \| DISEASES 6223 \| RPS19 \| 1.38 \| DISEASES 862 \| RUNX1T1 \| 1.24 \| DISEASES 51091 \| SEPSECS \| 2.76 \| DISEASES 5104 \| SERPINA5 \| 1.725 \| DISEASES 55972 \| SLC25A40 \| 2.887 \| DISEASES 91137 \| SLC25A46 \| 3.654 \| DISEASES 9751 \| SNPH \| 2.974 \| DISEASES 6635 \| SNRPE \| 3.005 \| DISEASES 8835 \| SOCS2 \| 1.466 \| DISEASES 25803 \| SPDEF \| 1.903 \| DISEASES 6775 \| STAT4 \| 1.144 \| DISEASES 6812 \| STXBP1 \| 1.811 \| DISEASES 91147 \| TMEM67 \| 2.241 \| DISEASES 8792 \| TNFRSF11A \| 1.01 \| DISEASES 10673 \| TNFSF13B \| 1.434 \| DISEASES 114034 \| TOE1 \| 3.697 \| DISEASES 116461 \| TSEN15 \| 5.268 \| DISEASES 283989 \| TSEN54 \| 6.711 \| DISEASES 706 \| TSPO \| 3.506 \| DISEASES 113457 \| TUBA3D \| 2.287 \| DISEASES 6675 \| UAP1 \| 2.735 \| DISEASES 7360 \| UGP2 \| 2.526 \| DISEASES 7436 \| VLDLR \| 1.549 \| DISEASES 339487 \| ZBTB8OS \| 2.697 \| DISEASES 7702 \| ZNF143 \| 2.504 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1288
Disease	pontocerebellar hypoplasia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:9) HP:0007269 \| Spinal muscle wasting \| 2 HP:0003202 \| Neurogenic muscle atrophy, especially in the lower limbs \| 2 HP:0003201 \| Rhabdomyolysis \| 1 HP:0004905 \| Vitamin A deficiency \| 1 HP:0001263 \| Developmental retardation \| 1 HP:0001336 \| Myoclonic jerks \| 1 HP:0001332 \| Dystonia \| 1 HP:0001636 \| Tetrology of fallot \| 1 HP:0001249 \| Mental retardation \| 1

Disease ID	1288
Disease	pontocerebellar hypoplasia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C1963101 \| encephalopathy C0154681 \| anterior horn cell disease
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Manually Genotypes:1)
Gene	Mutation	DOI	Article Title
SepSecS	A239T, Y334C	doi:10.1038/gim.2015.55	The Israeli national population program of genetic carrier screening for reproductive purposes

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs141138948	24524299	51010	EXOSC3	umls:C0266468	BeFree	Compound heterozygosity for a p.D132A mutation and a nonsense or p.Y109N allele, a homozygous p.G31A mutation or a p.G135E mutation causes a more rapidly progressive course leading to death in infancy and attenuation of the ventral pons.Our findings imply a clear correlation between genetic mutation and clinical outcome in EXOSC3 mediated PCH, including variable involvement of the pons.	0.000814326	2014	EXOSC3	9	37783993	T	G
rs387907196	24524299	51010	EXOSC3	umls:C0266468	BeFree	Compound heterozygosity for a p.D132A mutation and a nonsense or p.Y109N allele, a homozygous p.G31A mutation or a p.G135E mutation causes a more rapidly progressive course leading to death in infancy and attenuation of the ventral pons.Our findings imply a clear correlation between genetic mutation and clinical outcome in EXOSC3 mediated PCH, including variable involvement of the pons.	0.000814326	2014	EXOSC3	9	37784953	C	G

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	1288
Disease	pontocerebellar hypoplasia
Case	(Waiting for update.)

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