PCH12
MCID: PNT052
MIFTS: 21

Pontocerebellar Hypoplasia, Type 12 (PCH12)

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 12

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 12:

Name: Pontocerebellar Hypoplasia, Type 12 57 29 6
Pch12 57 72
Pontocerebellar Hypoplasia 12 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
death in infancy
onset in utero
four patients from 2 unrelated families have been reported (last curated january 2019)

Inheritance:
autosomal recessive


HPO:

31
pontocerebellar hypoplasia, type 12:
Onset and clinical course death in infancy congenital onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 618266
OMIM Phenotypic Series 57 PS607596
MeSH 44 D002526

Summaries for Pontocerebellar Hypoplasia, Type 12

UniProtKB/Swiss-Prot : 72 Pontocerebellar hypoplasia 12: A form of pontocerebellar hypoplasia, a disorder characterized by structural defects of the pons and cerebellum, evident upon brain imaging. PCH12 is an autosomal recessive form characterized by onset in utero and death in infancy. Brain imaging shows microcephaly, cerebellar hypoplasia, micrognathia, and multiple contractures.

MalaCards based summary : Pontocerebellar Hypoplasia, Type 12, is also known as pch12. An important gene associated with Pontocerebellar Hypoplasia, Type 12 is COASY (Coenzyme A Synthase). Affiliated tissues include cerebellum, pons and spinal cord, and related phenotypes are microcephaly and flexion contracture

More information from OMIM: 618266 PS607596

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 12

Human phenotypes related to Pontocerebellar Hypoplasia, Type 12:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 HP:0000252
2 flexion contracture 31 HP:0001371
3 micrognathia 31 HP:0000347
4 cerebellar hypoplasia 31 HP:0001321
5 sloping forehead 31 HP:0000340
6 hypoplasia of the brainstem 31 HP:0002365
7 cerebral hypoplasia 31 HP:0006872

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
microcephaly

Neurologic Central Nervous System:
cerebellar hypoplasia
brainstem hypoplasia
spinal cord hypoplasia
small cerebrum

Head And Neck Face:
micrognathia
sloping forehead

Skeletal:
contractures

Clinical features from OMIM®:

618266 (Updated 05-Apr-2021)

Drugs & Therapeutics for Pontocerebellar Hypoplasia, Type 12

Search Clinical Trials , NIH Clinical Center for Pontocerebellar Hypoplasia, Type 12

Genetic Tests for Pontocerebellar Hypoplasia, Type 12

Genetic tests related to Pontocerebellar Hypoplasia, Type 12:

# Genetic test Affiliating Genes
1 Pontocerebellar Hypoplasia, Type 12 29 COASY

Anatomical Context for Pontocerebellar Hypoplasia, Type 12

MalaCards organs/tissues related to Pontocerebellar Hypoplasia, Type 12:

40
Cerebellum, Pons, Spinal Cord

Publications for Pontocerebellar Hypoplasia, Type 12

Articles related to Pontocerebellar Hypoplasia, Type 12:

# Title Authors PMID Year
1
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis. 6 57
30089828 2018
2
Genomic segments RNA1 and RNA2 of Prunus necrotic ringspot virus codetermine viral pathogenicity to adapt to alternating natural Prunus hosts. 61
23360459 2013
3
Molecular characterization of two prunus necrotic ringspot virus isolates from Canada. 61
22327390 2012

Variations for Pontocerebellar Hypoplasia, Type 12

ClinVar genetic disease variations for Pontocerebellar Hypoplasia, Type 12:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 COASY NM_025233.7(COASY):c.1547_1548AG[1] (p.Ser517fs) Microsatellite Pathogenic 599342 rs766482965 GRCh37: 17:40717738-40717739
GRCh38: 17:42565720-42565721
2 COASY NM_025233.7(COASY):c.1486-3C>G SNV Likely pathogenic 599341 rs577714887 GRCh37: 17:40717674-40717674
GRCh38: 17:42565656-42565656

Expression for Pontocerebellar Hypoplasia, Type 12

Search GEO for disease gene expression data for Pontocerebellar Hypoplasia, Type 12.

Pathways for Pontocerebellar Hypoplasia, Type 12

GO Terms for Pontocerebellar Hypoplasia, Type 12

Sources for Pontocerebellar Hypoplasia, Type 12

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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