PCH15
MCID: PNT056
MIFTS: 14

Pontocerebellar Hypoplasia, Type 15 (PCH15)

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 15

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 15:

Name: Pontocerebellar Hypoplasia, Type 15 57
Pch15 57

Characteristics:

OMIM®:

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

Miscellaneous:
onset at birth
progressive disorder with neurodegeneration
one patient, born of consanguineous parents, has been reported (last curated april 2021)


Classifications:



External Ids:

OMIM® 57 619302
OMIM Phenotypic Series 57 PS607596

Summaries for Pontocerebellar Hypoplasia, Type 15

OMIM® : 57 Pontocerebellar hypoplasia type 15 (PCH15) 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 spastic quadriplegia, early-onset seizures, and chronic anemia and thrombocytopenia. Brain imaging shows pontocerebellar hypoplasia and partial agenesis of the corpus callosum (summary by Chai et al., 2021). For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596). (619302) (Updated 20-May-2021)

MalaCards based summary : Pontocerebellar Hypoplasia, Type 15, is also known as pch15. An important gene associated with Pontocerebellar Hypoplasia, Type 15 is CDC40 (Cell Division Cycle 40). Affiliated tissues include eye and brain.

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 15

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hypertonia
partial agenesis of the corpus callosum
brisk reflexes
spastic quadriplegia
brainstem hypoplasia
more
Head And Neck Head:
microcephaly, progressive (down to -5.5 sd)

Hematology:
anemia
thrombocytopenia

Clinical features from OMIM®:

619302 (Updated 20-May-2021)

Drugs & Therapeutics for Pontocerebellar Hypoplasia, Type 15

Search Clinical Trials , NIH Clinical Center for Pontocerebellar Hypoplasia, Type 15

Genetic Tests for Pontocerebellar Hypoplasia, Type 15

Anatomical Context for Pontocerebellar Hypoplasia, Type 15

MalaCards organs/tissues related to Pontocerebellar Hypoplasia, Type 15:

40
Eye, Brain

Publications for Pontocerebellar Hypoplasia, Type 15

Articles related to Pontocerebellar Hypoplasia, Type 15:

# 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 15

Expression for Pontocerebellar Hypoplasia, Type 15

Search GEO for disease gene expression data for Pontocerebellar Hypoplasia, Type 15.

Pathways for Pontocerebellar Hypoplasia, Type 15

GO Terms for Pontocerebellar Hypoplasia, Type 15

Sources for Pontocerebellar Hypoplasia, Type 15

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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