MCID: PNT035
MIFTS: 30

Pontocerebellar Hypoplasia, Type 1c

Categories: Genetic diseases, Muscle diseases, Rare diseases, Neuronal diseases, Fetal diseases, Eye diseases, Metabolic diseases

Aliases & Classifications for Pontocerebellar Hypoplasia, Type 1c

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 1c:

Name: Pontocerebellar Hypoplasia, Type 1c 57 29 6 73
Pch1c 57 75
Hypomyelination with Spinal Muscular Atrophy and Cerebellar Hypoplasia 57
Hypoplasia, Pontocerebellar, Type 1c 40
Pontocerebellar Hypoplasia 1c 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
usually fatal in infancy
onset in first months of life
three families have been reported (last curated november 2014)


HPO:

32
pontocerebellar hypoplasia, type 1c:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Pontocerebellar Hypoplasia, Type 1c

OMIM : 57 Pontocerebellar hypoplasia type 1C is a severe autosomal recessive neurodegenerative disorder characterized by severe muscle weakness and failure to thrive apparent in the first months of life. Affected infants showed delayed psychomotor development, often with visual and hearing impairment, and may die of respiratory failure. Brain imaging typically shows cerebellar hypoplasia, hypoplasia of the corpus callosum, and immature myelination (summary by Boczonadi et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596). (616081)

MalaCards based summary : Pontocerebellar Hypoplasia, Type 1c, also known as pch1c, is related to cerebellar hypoplasia and spinal muscular atrophy. An important gene associated with Pontocerebellar Hypoplasia, Type 1c is EXOSC8 (Exosome Component 8). Affiliated tissues include brain and spinal cord, and related phenotypes are hearing impairment and visual impairment

UniProtKB/Swiss-Prot : 75 Pontocerebellar hypoplasia 1C: A severe autosomal recessive neurodegenerative disease characterized by cerebellar and corpus callosum hypoplasia, abnormal myelination of the central nervous system, and spinal motor neuron disease. Affected individuals manifest failure to thrive, severe muscle weakness, spasticity and psychomotor retardation. Vision and hearing are impaired.

Related Diseases for Pontocerebellar Hypoplasia, Type 1c

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 1c

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Head And Neck Ears:
hearing impairment

Abdomen Gastrointestinal:
feeding difficulties

Skeletal:
contractures (in some patients)

Respiratory:
respiratory insufficiency
respiratory failure

Head And Neck Eyes:
visual impairment

Neurologic Central Nervous System:
spastic tetraparesis
cerebellar vermis hypoplasia
cortical atrophy
delayed psychomotor development
thin corpus callosum
more
Muscle Soft Tissue:
muscle weakness, severe
muscle atrophy, severe


Clinical features from OMIM:

616081

Human phenotypes related to Pontocerebellar Hypoplasia, Type 1c:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 HP:0000365
2 visual impairment 32 HP:0000505
3 global developmental delay 32 HP:0001263
4 spastic tetraparesis 32 HP:0001285
5 cerebellar vermis hypoplasia 32 HP:0001320
6 muscle weakness 32 HP:0001324
7 flexion contracture 32 occasional (7.5%) HP:0001371
8 failure to thrive 32 HP:0001508
9 hypoplasia of the corpus callosum 32 HP:0002079
10 cerebral cortical atrophy 32 HP:0002120
11 respiratory failure 32 HP:0002878
12 spinal muscular atrophy 32 HP:0007269
13 feeding difficulties 32 HP:0011968

GenomeRNAi Phenotypes related to Pontocerebellar Hypoplasia, Type 1c according to GeneCards Suite gene sharing:

26 (show all 11)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-108 9.36 EXOSC8
2 Increased shRNA abundance (Z-score > 2) GR00366-A-110 9.36 ALG5
3 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.36 EXOSC8
4 Increased shRNA abundance (Z-score > 2) GR00366-A-156 9.36 EXOSC8
5 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.36 EXOSC8
6 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.36 ALG5 EXOSC8
7 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.36 EXOSC8
8 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.36 ALG5
9 Increased shRNA abundance (Z-score > 2) GR00366-A-201 9.36 EXOSC8
10 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.36 ALG5
11 FOXO1 nuclear localization GR00247-A-1 8.96 ALG5 EXOSC8

Drugs & Therapeutics for Pontocerebellar Hypoplasia, Type 1c

Search Clinical Trials , NIH Clinical Center for Pontocerebellar Hypoplasia, Type 1c

Genetic Tests for Pontocerebellar Hypoplasia, Type 1c

Genetic tests related to Pontocerebellar Hypoplasia, Type 1c:

# Genetic test Affiliating Genes
1 Pontocerebellar Hypoplasia, Type 1c 29 EXOSC8

Anatomical Context for Pontocerebellar Hypoplasia, Type 1c

MalaCards organs/tissues related to Pontocerebellar Hypoplasia, Type 1c:

41
Brain, Spinal Cord

Publications for Pontocerebellar Hypoplasia, Type 1c

Articles related to Pontocerebellar Hypoplasia, Type 1c:

# Title Authors Year
1
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. ( 24989451 )
2014

Variations for Pontocerebellar Hypoplasia, Type 1c

UniProtKB/Swiss-Prot genetic disease variations for Pontocerebellar Hypoplasia, Type 1c:

75
# Symbol AA change Variation ID SNP ID
1 EXOSC8 p.Ala2Val VAR_072558 rs606231285
2 EXOSC8 p.Ser272Thr VAR_072559 rs36027220

ClinVar genetic disease variations for Pontocerebellar Hypoplasia, Type 1c:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EXOSC8 NM_181503.2(EXOSC8): c.815G> C (p.Ser272Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs36027220 GRCh38 Chromosome 13, 37009283: 37009283
2 EXOSC8 NM_181503.2(EXOSC8): c.815G> C (p.Ser272Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs36027220 GRCh37 Chromosome 13, 37583420: 37583420
3 EXOSC8 NM_181503.2(EXOSC8): c.5C> T (p.Ala2Val) single nucleotide variant Pathogenic rs606231285 GRCh38 Chromosome 13, 37000810: 37000810
4 EXOSC8 NM_181503.2(EXOSC8): c.5C> T (p.Ala2Val) single nucleotide variant Pathogenic rs606231285 GRCh37 Chromosome 13, 37574947: 37574947

Expression for Pontocerebellar Hypoplasia, Type 1c

Search GEO for disease gene expression data for Pontocerebellar Hypoplasia, Type 1c.

Pathways for Pontocerebellar Hypoplasia, Type 1c

GO Terms for Pontocerebellar Hypoplasia, Type 1c

Sources for Pontocerebellar Hypoplasia, Type 1c

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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49 NCI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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