PCH1C
MCID: PNT035
MIFTS: 27

Pontocerebellar Hypoplasia, Type 1c (PCH1C)

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

Aliases & Classifications for Pontocerebellar Hypoplasia, Type 1c

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 1c:

Name: Pontocerebellar Hypoplasia, Type 1c 57 29 6 70
Pch1c 57 72
Hypomyelination with Spinal Muscular Atrophy and Cerebellar Hypoplasia 57
Hypoplasia, Pontocerebellar, Type 1c 39
Pontocerebellar Hypoplasia 1c 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
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) (Updated 05-Apr-2021)

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 spinal cord, and related phenotypes are flexion contracture and failure to thrive

UniProtKB/Swiss-Prot : 72 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

Graphical network of the top 20 diseases related to Pontocerebellar Hypoplasia, Type 1c:



Diseases related to Pontocerebellar Hypoplasia, Type 1c

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 1c

Human phenotypes related to Pontocerebellar Hypoplasia, Type 1c:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 flexion contracture 31 occasional (7.5%) HP:0001371
2 failure to thrive 31 HP:0001508
3 muscle weakness 31 HP:0001324
4 hearing impairment 31 HP:0000365
5 global developmental delay 31 HP:0001263
6 visual impairment 31 HP:0000505
7 cerebral cortical atrophy 31 HP:0002120
8 respiratory failure 31 HP:0002878
9 hypoplasia of the corpus callosum 31 HP:0002079
10 feeding difficulties 31 HP:0011968
11 spastic tetraparesis 31 HP:0001285
12 cerebellar vermis hypoplasia 31 HP:0001320
13 spinal muscular atrophy 31 HP:0007269

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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
spinal muscular atrophy
delayed psychomotor development
cortical atrophy
more
Muscle Soft Tissue:
muscle weakness, severe
muscle atrophy, severe

Clinical features from OMIM®:

616081 (Updated 05-Apr-2021)

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:

40
Spinal Cord

Publications for Pontocerebellar Hypoplasia, Type 1c

Articles related to Pontocerebellar Hypoplasia, Type 1c:

# Title Authors PMID Year
1
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia. 57 6
24989451 2014
2
The RNA Exosome and Human Disease. 61
31768969 2020
3
The RNA exosome and RNA exosome-linked disease. 61
29093021 2018
4
Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing. 61
30581635 2018

Variations for Pontocerebellar Hypoplasia, Type 1c

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EXOSC8 NM_181503.3(EXOSC8):c.5C>T (p.Ala2Val) SNV Pathogenic 157609 rs606231285 GRCh37: 13:37574947-37574947
GRCh38: 13:37000810-37000810
2 EXOSC8 NM_181503.3(EXOSC8):c.31_32dup (p.Glu12fs) Microsatellite Pathogenic 1027900 GRCh37: 13:37576420-37576421
GRCh38: 13:37002283-37002284
3 EXOSC8 NM_181503.3(EXOSC8):c.781G>T (p.Glu261Ter) SNV Uncertain significance 548522 rs1221939030 GRCh37: 13:37583386-37583386
GRCh38: 13:37009249-37009249
4 EXOSC8 NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) SNV Uncertain significance 157608 rs36027220 GRCh37: 13:37583420-37583420
GRCh38: 13:37009283-37009283
5 EXOSC8 NM_181503.3(EXOSC8):c.17+1G>T SNV Uncertain significance 813914 rs1412754843 GRCh37: 13:37574960-37574960
GRCh38: 13:37000823-37000823
6 EXOSC8 NM_181503.3(EXOSC8):c.695T>C (p.Leu232Pro) SNV Uncertain significance 813915 rs1593709247 GRCh37: 13:37582952-37582952
GRCh38: 13:37008815-37008815
7 EXOSC8 NM_181503.3(EXOSC8):c.13T>C (p.Phe5Leu) SNV Uncertain significance 1027899 GRCh37: 13:37574955-37574955
GRCh38: 13:37000818-37000818
8 EXOSC8 NM_181503.3(EXOSC8):c.321G>A (p.Gln107=) SNV Benign 802960 rs1127446 GRCh37: 13:37580139-37580139
GRCh38: 13:37006002-37006002

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

72
# Symbol AA change Variation ID SNP ID
1 EXOSC8 p.Ala2Val VAR_072558 rs606231285
2 EXOSC8 p.Ser272Thr VAR_072559 rs36027220

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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