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 58 6
Pch12 58 76
Pontocerebellar Hypoplasia 12 76

Characteristics:

OMIM:

58
Miscellaneous:
death in infancy
onset in utero
four patients from 2 unrelated families have been reported (last curated january 2019)

Inheritance:
autosomal recessive


HPO:

33
pontocerebellar hypoplasia, type 12:
Clinical modifier death in infancy
Onset and clinical course congenital onset


Classifications:



External Ids:

OMIM 58 618266
MeSH 45 D002526
MedGen 43 CN258054
SNOMED-CT via HPO 70 16026008 32958008

Summaries for Pontocerebellar Hypoplasia, Type 12

UniProtKB/Swiss-Prot : 76 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 brain, cerebellum and pons, and related phenotypes are micrognathia and cerebellar hypoplasia

Description from OMIM: 618266

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 12

Human phenotypes related to Pontocerebellar Hypoplasia, Type 12:

33
# Description HPO Frequency HPO Source Accession
1 micrognathia 33 HP:0000347
2 cerebellar hypoplasia 33 HP:0001321
3 sloping forehead 33 HP:0000340
4 hypoplasia of the brainstem 33 HP:0002365
5 cerebral hypoplasia 33 HP:0006872

Symptoms via clinical synopsis from OMIM:

58
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

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

Anatomical Context for Pontocerebellar Hypoplasia, Type 12

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

42
Brain, Cerebellum, Pons, Spinal Cord, Eye

Publications for Pontocerebellar Hypoplasia, Type 12

Articles related to Pontocerebellar Hypoplasia, Type 12:

# Title Authors Year
1
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis. ( 30089828 )
2018

Variations for Pontocerebellar Hypoplasia, Type 12

ClinVar genetic disease variations for Pontocerebellar Hypoplasia, Type 12:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 COASY NM_025233.7(COASY): c.1486-3C> G single nucleotide variant Pathogenic GRCh37 Chromosome 17, 40717674: 40717674
2 COASY NM_025233.7(COASY): c.1486-3C> G single nucleotide variant Pathogenic GRCh38 Chromosome 17, 42565656: 42565656
3 COASY NM_025233.7(COASY): c.1549_1550del (p.Ser517Profs) deletion Pathogenic GRCh38 Chromosome 17, 42565722: 42565723
4 COASY NM_025233.7(COASY): c.1549_1550del (p.Ser517Profs) deletion Pathogenic GRCh37 Chromosome 17, 40717740: 40717741

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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