PCH14
MCID: PNT055
MIFTS: 16

Pontocerebellar Hypoplasia, Type 14 (PCH14)

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 14

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 14:

Name: Pontocerebellar Hypoplasia, Type 14 57
Pch14 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
early death (in some patients)
progressive disorder with neurodegeneration


Classifications:



External Ids:

OMIM® 57 619301
OMIM Phenotypic Series 57 PS607596

Summaries for Pontocerebellar Hypoplasia, Type 14

OMIM® : 57 Pontocerebellar hypoplasia type 14 (PCH14) is a severe autosomal recessive neurodevelopmental disorder characterized by congenital onset of progressive microcephaly and poor or absent psychomotor development with severely impaired intellectual development apparent from birth. Other features may include hypotonia, spastic quadriplegia, and early-onset seizures. Brain imaging shows pontocerebellar hypoplasia, agenesis or partial agenesis of the corpus callosum, and sometimes a simplified gyral pattern. Early death may occur (summary by Chai et al., 2021). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596). (619301) (Updated 20-May-2021)

MalaCards based summary : Pontocerebellar Hypoplasia, Type 14, also known as pch14, is related to pontocerebellar hypoplasia. An important gene associated with Pontocerebellar Hypoplasia, Type 14 is PPIL1 (Peptidylprolyl Isomerase Like 1). Affiliated tissues include eye and brain.

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 14

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
dystonia
brisk reflexes
simplified gyral pattern
hypotonia
agenesis of the corpus callosum
more
Head And Neck Head:
microcephaly, progressive (down to -8 sd)

Clinical features from OMIM®:

619301 (Updated 20-May-2021)

Drugs & Therapeutics for Pontocerebellar Hypoplasia, Type 14

Search Clinical Trials , NIH Clinical Center for Pontocerebellar Hypoplasia, Type 14

Genetic Tests for Pontocerebellar Hypoplasia, Type 14

Anatomical Context for Pontocerebellar Hypoplasia, Type 14

MalaCards organs/tissues related to Pontocerebellar Hypoplasia, Type 14:

40
Eye, Brain

Publications for Pontocerebellar Hypoplasia, Type 14

Articles related to Pontocerebellar Hypoplasia, Type 14:

# Title Authors PMID Year
1
Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly. 57
33220177 2021

Variations for Pontocerebellar Hypoplasia, Type 14

Expression for Pontocerebellar Hypoplasia, Type 14

Search GEO for disease gene expression data for Pontocerebellar Hypoplasia, Type 14.

Pathways for Pontocerebellar Hypoplasia, Type 14

GO Terms for Pontocerebellar Hypoplasia, Type 14

Sources for Pontocerebellar Hypoplasia, Type 14

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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