MCID: PNT042
MIFTS: 21

Pontocerebellar Hypoplasia, Type 2f

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Muscle diseases, Eye diseases, Metabolic 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 75
Pontocerebellar Hypoplasia 2f 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
pontocerebellar hypoplasia, type 2f:
Onset and clinical course variable expressivity congenital onset
Inheritance autosomal recessive inheritance


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)

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 progressive microcephaly and strabismus

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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
extensor plantar responses (1 patient)
spasticity (1 patient)
more
Head And Neck Head:
microcephaly, progressive (up to -7.9 sd)


Clinical features from OMIM:

617026

Human phenotypes related to Pontocerebellar Hypoplasia, Type 2f:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 progressive microcephaly 32 HP:0000253
2 strabismus 32 occasional (7.5%) HP:0000486
3 intellectual disability 32 HP:0001249
4 seizures 32 occasional (7.5%) HP:0001250
5 spasticity 32 occasional (7.5%) HP:0001257
6 motor delay 32 occasional (7.5%) HP:0001270
7 generalized hypotonia 32 HP:0001290
8 hyperreflexia 32 occasional (7.5%) HP:0001347
9 cerebral cortical atrophy 32 occasional (7.5%) HP:0002120
10 inability to walk 32 occasional (7.5%) HP:0002540
11 babinski sign 32 occasional (7.5%) HP:0003487

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

Variations for Pontocerebellar Hypoplasia, Type 2f

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

75
# 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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TSEN15 NM_001127394.3(TSEN15): c.226T> G (p.Trp76Gly) single nucleotide variant Pathogenic/Likely pathogenic rs730882223 GRCh38 Chromosome 1, 184054736: 184054736
2 TSEN15 NM_001127394.3(TSEN15): c.226T> G (p.Trp76Gly) single nucleotide variant Pathogenic/Likely pathogenic rs730882223 GRCh37 Chromosome 1, 184023870: 184023870
3 TSEN15 NM_052965.3(TSEN15): c.455A> G (p.Tyr152Cys) single nucleotide variant Pathogenic rs879253779 GRCh37 Chromosome 1, 184041392: 184041392
4 TSEN15 NM_052965.3(TSEN15): c.455A> G (p.Tyr152Cys) single nucleotide variant Pathogenic rs879253779 GRCh38 Chromosome 1, 184072258: 184072258
5 TSEN15 NM_052965.3(TSEN15): c.346C> T (p.His116Tyr) single nucleotide variant Pathogenic rs879253780 GRCh38 Chromosome 1, 184054856: 184054856
6 TSEN15 NM_052965.3(TSEN15): c.346C> T (p.His116Tyr) single nucleotide variant Pathogenic rs879253780 GRCh37 Chromosome 1, 184023990: 184023990

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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