MCID: PNT049
MIFTS: 40

Pontocerebellar Hypoplasia, Type 2d

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Fetal diseases, Muscle diseases, Eye diseases, Metabolic diseases

Aliases & Classifications for Pontocerebellar Hypoplasia, Type 2d

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 2d:

Name: Pontocerebellar Hypoplasia, Type 2d 57 73
Pontocerebellar Hypoplasia Type 2d 57 12 29 13 6 15
Pch2d 57 75
Pcca 57 75
Cerebellocerebral Atrophy, Progressive; Pcca 57
Cerebellocerebral Atrophy, Progressive 57
Progressive Cerebello-Cerebral Atrophy 75
Progressive Cerebellocerebral Atrophy 75
Hypoplasia, Pontocerebellar, Type 2d 40
Pontocerebellar Hypoplasia 2d 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
reported in individuals of sephardic jewish ancestry


HPO:

32
pontocerebellar hypoplasia, type 2d:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Pontocerebellar Hypoplasia, Type 2d

OMIM : 57 PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, and variable seizures (summary by Ben-Zeev et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (277470). (613811)

MalaCards based summary : Pontocerebellar Hypoplasia, Type 2d, also known as pontocerebellar hypoplasia type 2d, is related to propionic acidemia and pontocerebellar hypoplasia, type 2e, and has symptoms including clonus, seizures and sleep disturbances. An important gene associated with Pontocerebellar Hypoplasia, Type 2d is SEPSECS (Sep (O-Phosphoserine) TRNA:Sec (Selenocysteine) TRNA Synthase), and among its related pathways/superpathways are Folate Metabolism and Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF). Affiliated tissues include cerebellum and brain, and related phenotypes are progressive microcephaly and irritability

UniProtKB/Swiss-Prot : 75 Pontocerebellar hypoplasia 2D: A disorder characterized by postnatal onset of progressive atrophy of the cerebrum and cerebellum, microcephaly, profound mental retardation, spasticity, and variable seizures.

Related Diseases for Pontocerebellar Hypoplasia, Type 2d

Graphical network of the top 20 diseases related to Pontocerebellar Hypoplasia, Type 2d:



Diseases related to Pontocerebellar Hypoplasia, Type 2d

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 2d

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
clonus
delayed myelination
sleep disturbances
thin corpus callosum
more
Skeletal Limbs:
contractures

Neurologic Behavioral Psychiatric Manifestations:
irritability

Head And Neck Head:
microcephaly, postnatal, progressive


Clinical features from OMIM:

613811

Human phenotypes related to Pontocerebellar Hypoplasia, Type 2d:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 progressive microcephaly 32 HP:0000253
2 irritability 32 HP:0000737
3 seizures 32 HP:0001250
4 global developmental delay 32 HP:0001263
5 cerebellar atrophy 32 HP:0001272
6 cerebral atrophy 32 HP:0002059
7 chorea 32 HP:0002072
8 hypoplasia of the corpus callosum 32 HP:0002079
9 clonus 32 HP:0002169
10 intellectual disability, profound 32 HP:0002187
11 sleep disturbance 32 HP:0002360
12 spastic tetraplegia 32 HP:0002510
13 abnormality of the periventricular white matter 32 HP:0002518
14 limb joint contracture 32 HP:0003121
15 delayed myelination 32 HP:0012448

UMLS symptoms related to Pontocerebellar Hypoplasia, Type 2d:


clonus, seizures, sleep disturbances

Drugs & Therapeutics for Pontocerebellar Hypoplasia, Type 2d

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

Genetic Tests for Pontocerebellar Hypoplasia, Type 2d

Genetic tests related to Pontocerebellar Hypoplasia, Type 2d:

# Genetic test Affiliating Genes
1 Pontocerebellar Hypoplasia Type 2d 29 SEPSECS

Anatomical Context for Pontocerebellar Hypoplasia, Type 2d

MalaCards organs/tissues related to Pontocerebellar Hypoplasia, Type 2d:

41
Cerebellum, Brain

Publications for Pontocerebellar Hypoplasia, Type 2d

Articles related to Pontocerebellar Hypoplasia, Type 2d:

# Title Authors Year
1
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency. ( 26805434 )
2016

Variations for Pontocerebellar Hypoplasia, Type 2d

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

75
# Symbol AA change Variation ID SNP ID
1 SEPSECS p.Ala239Thr VAR_065585 rs267607035
2 SEPSECS p.Tyr334Cys VAR_065586 rs267607036
3 SEPSECS p.Thr325Ser VAR_074163

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SEPSECS NM_016955.3(SEPSECS): c.1001A> G (p.Tyr334Cys) single nucleotide variant Pathogenic rs267607036 GRCh37 Chromosome 4, 25146421: 25146421
2 SEPSECS NM_016955.3(SEPSECS): c.1001A> G (p.Tyr334Cys) single nucleotide variant Pathogenic rs267607036 GRCh38 Chromosome 4, 25144799: 25144799
3 SEPSECS NM_016955.3(SEPSECS): c.715G> A (p.Ala239Thr) single nucleotide variant Pathogenic rs267607035 GRCh37 Chromosome 4, 25153671: 25153671
4 SEPSECS NM_016955.3(SEPSECS): c.715G> A (p.Ala239Thr) single nucleotide variant Pathogenic rs267607035 GRCh38 Chromosome 4, 25152049: 25152049
5 SEPSECS NM_016955.3(SEPSECS): c.1466A> T (p.Asp489Val) single nucleotide variant Pathogenic rs773876739 GRCh37 Chromosome 4, 25125593: 25125593
6 SEPSECS NM_016955.3(SEPSECS): c.1466A> T (p.Asp489Val) single nucleotide variant Pathogenic rs773876739 GRCh38 Chromosome 4, 25123971: 25123971
7 SEPSECS NM_016955.3(SEPSECS): c.808dupG (p.Ala270Glyfs) duplication Pathogenic rs776969714 GRCh37 Chromosome 4, 25146752: 25146752
8 SEPSECS NM_016955.3(SEPSECS): c.808dupG (p.Ala270Glyfs) duplication Pathogenic rs776969714 GRCh38 Chromosome 4, 25145130: 25145130
9 SEPSECS NM_016955.3(SEPSECS): c.846G> A (p.Leu282=) single nucleotide variant Likely pathogenic rs146539065 GRCh37 Chromosome 4, 25146714: 25146714
10 SEPSECS NM_016955.3(SEPSECS): c.846G> A (p.Leu282=) single nucleotide variant Likely pathogenic rs146539065 GRCh38 Chromosome 4, 25145092: 25145092

Expression for Pontocerebellar Hypoplasia, Type 2d

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

Pathways for Pontocerebellar Hypoplasia, Type 2d

GO Terms for Pontocerebellar Hypoplasia, Type 2d

Cellular components related to Pontocerebellar Hypoplasia, Type 2d according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.02 GPX4 NNT SECISBP2 TXNRD1 TXNRD2
2 cell GO:0005623 8.96 TXNRD1 TXNRD2

Biological processes related to Pontocerebellar Hypoplasia, Type 2d according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.55 GPX4 NNT SELENON TXNRD1 TXNRD2
2 cellular response to oxidative stress GO:0034599 9.54 SELENOS TXNRD1 TXNRD2
3 cell redox homeostasis GO:0045454 9.43 SELENOS TXNRD1 TXNRD2
4 electron transport chain GO:0022900 9.4 TXNRD1 TXNRD2
5 selenocysteine incorporation GO:0001514 9.32 SECISBP2 SEPSECS
6 response to oxygen radical GO:0000305 8.96 TXNRD1 TXNRD2
7 cellular oxidant detoxification GO:0098869 8.92 GPX4 SELENOS TXNRD1 TXNRD2

Molecular functions related to Pontocerebellar Hypoplasia, Type 2d according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 9.37 TXNRD1 TXNRD2
2 flavin adenine dinucleotide binding GO:0050660 9.32 TXNRD1 TXNRD2
3 thioredoxin-disulfide reductase activity GO:0004791 9.26 TXNRD1 TXNRD2
4 oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor GO:0016668 9.16 TXNRD1 TXNRD2
5 oxidoreductase activity GO:0016491 9.02 GPX4 NNT SELENON TXNRD1 TXNRD2
6 oxidoreductase activity, acting on a sulfur group of donors GO:0016667 8.96 TXNRD1 TXNRD2

Sources for Pontocerebellar Hypoplasia, Type 2d

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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