PCH2F
MCID: PNT042
MIFTS: 21

Pontocerebellar Hypoplasia, Type 2f (PCH2F)

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 2f

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 2f:

Name: Pontocerebellar Hypoplasia, Type 2f 57 29 6
Pch2f 57 72
Pontocerebellar Hypoplasia 2f 72

Characteristics:

OMIM®:

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

Miscellaneous:
variable severity
onset at birth
three consanguineous families have been reported (last curated july 2016)


HPO:

31
pontocerebellar hypoplasia, type 2f:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity congenital onset


Classifications:



Summaries for Pontocerebellar Hypoplasia, Type 2f

OMIM® : 57 Pontocerebellar hypoplasia type 2F is an autosomal recessive neurodevelopmental disorder characterized by progressive microcephaly and variable neurologic signs and symptoms, including cognitive and motor delay, poor or absent speech, seizures, and spasticity (summary by Breuss et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (277470). (617026) (Updated 05-Apr-2021)

MalaCards based summary : Pontocerebellar Hypoplasia, Type 2f, is also known as pch2f. An important gene associated with Pontocerebellar Hypoplasia, Type 2f is TSEN15 (TRNA Splicing Endonuclease Subunit 15). Related phenotypes are spasticity and hyperreflexia

UniProtKB/Swiss-Prot : 72 Pontocerebellar hypoplasia 2F: A neurodevelopmental disorder characterized by progressive microcephaly, cognitive and motor delay, poor or absent speech, seizures, and spasticity. PCH2F inheritance is autosomal recessive.

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 2f

Human phenotypes related to Pontocerebellar Hypoplasia, Type 2f:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 spasticity 31 occasional (7.5%) HP:0001257
2 hyperreflexia 31 occasional (7.5%) HP:0001347
3 strabismus 31 occasional (7.5%) HP:0000486
4 motor delay 31 occasional (7.5%) HP:0001270
5 cerebral cortical atrophy 31 occasional (7.5%) HP:0002120
6 babinski sign 31 occasional (7.5%) HP:0003487
7 inability to walk 31 occasional (7.5%) HP:0002540
8 seizure 31 occasional (7.5%) HP:0001250
9 intellectual disability 31 HP:0001249
10 generalized hypotonia 31 HP:0001290
11 progressive microcephaly 31 HP:0000253

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
strabismus (1 patient)
poor or absent fixation (1 patient)

Neurologic Central Nervous System:
seizures (in some patients)
motor delay (in some patients)
pontocerebellar hypoplasia
spasticity (1 patient)
cortical atrophy (1 patient)
more
Head And Neck Head:
microcephaly, progressive (up to -7.9 sd)

Clinical features from OMIM®:

617026 (Updated 05-Apr-2021)

Drugs & Therapeutics for Pontocerebellar Hypoplasia, Type 2f

Search Clinical Trials , NIH Clinical Center for Pontocerebellar Hypoplasia, Type 2f

Genetic Tests for Pontocerebellar Hypoplasia, Type 2f

Genetic tests related to Pontocerebellar Hypoplasia, Type 2f:

# Genetic test Affiliating Genes
1 Pontocerebellar Hypoplasia, Type 2f 29 TSEN15

Anatomical Context for Pontocerebellar Hypoplasia, Type 2f

Publications for Pontocerebellar Hypoplasia, Type 2f

Articles related to Pontocerebellar Hypoplasia, Type 2f:

# Title Authors PMID Year
1
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly. 57 6
27392077 2016
2
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 57 6
25558065 2015

Variations for Pontocerebellar Hypoplasia, Type 2f

ClinVar genetic disease variations for Pontocerebellar Hypoplasia, Type 2f:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TSEN15 NM_052965.4(TSEN15):c.455A>G (p.Tyr152Cys) SNV Pathogenic 243000 rs879253779 GRCh37: 1:184041392-184041392
GRCh38: 1:184072258-184072258
2 TSEN15 NM_052965.4(TSEN15):c.226T>G (p.Trp76Gly) SNV Pathogenic 183315 rs730882223 GRCh37: 1:184023870-184023870
GRCh38: 1:184054736-184054736
3 TSEN15 NM_052965.4(TSEN15):c.346C>T (p.His116Tyr) SNV Likely pathogenic 243001 rs879253780 GRCh37: 1:184023990-184023990
GRCh38: 1:184054856-184054856

UniProtKB/Swiss-Prot genetic disease variations for Pontocerebellar Hypoplasia, Type 2f:

72
# Symbol AA change Variation ID SNP ID
1 TSEN15 p.Trp76Gly VAR_077061 rs730882223
2 TSEN15 p.His116Tyr VAR_077062 rs879253780
3 TSEN15 p.Tyr152Cys VAR_077063 rs879253779

Expression for Pontocerebellar Hypoplasia, Type 2f

Search GEO for disease gene expression data for Pontocerebellar Hypoplasia, Type 2f.

Pathways for Pontocerebellar Hypoplasia, Type 2f

GO Terms for Pontocerebellar Hypoplasia, Type 2f

Sources for Pontocerebellar Hypoplasia, Type 2f

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
Content
Loading form....