PCH2D
MCID: PNT049
MIFTS: 40

Pontocerebellar Hypoplasia, Type 2d (PCH2D)

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 2d

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 2d:

Name: Pontocerebellar Hypoplasia, Type 2d 58 74
Pontocerebellar Hypoplasia Type 2d 58 12 30 13 6 15
Pch2d 58 76
Pcca 58 76
Cerebellocerebral Atrophy, Progressive; Pcca 58
Cerebellocerebral Atrophy, Progressive 58
Progressive Cerebello-Cerebral Atrophy 76
Progressive Cerebellocerebral Atrophy 76
Hypoplasia, Pontocerebellar, Type 2d 41
Pontocerebellar Hypoplasia 2d 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
pontocerebellar hypoplasia, type 2d:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Pontocerebellar Hypoplasia, Type 2d

OMIM : 58 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 seizures, clonus 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 Selenium Micronutrient Network and Mechanisms of CFTR activation by S-nitrosoglutathione (normal and CF). Affiliated tissues include cerebellum and brain, and related phenotypes are seizures and chorea

Disease Ontology : 12 A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has material basis in autosomal recessive inheritance of mutation in the SEPSECS gene.

UniProtKB/Swiss-Prot : 76 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

Diseases in the Pontocerebellar Hypoplasia family:

Pontocerebellar Hypoplasia, Type 4 Pontocerebellar Hypoplasia, Type 2a
Pontocerebellar Hypoplasia, Type 1a Pontocerebellar Hypoplasia, Type 3
Pontocerebellar Hypoplasia, Type 5 Pontocerebellar Hypoplasia, Type 6
Pontocerebellar Hypoplasia, Type 2b Pontocerebellar Hypoplasia, Type 2c
Pontocerebellar Hypoplasia, Type 2d Pontocerebellar Hypoplasia, Type 1b
Pontocerebellar Hypoplasia, Type 8 Pontocerebellar Hypoplasia, Type 7
Pontocerebellar Hypoplasia, Type 10 Pontocerebellar Hypoplasia, Type 9
Pontocerebellar Hypoplasia, Type 2e Pontocerebellar Hypoplasia, Type 1c
Pontocerebellar Hypoplasia, Type 2f Pontocerebellar Hypoplasia, Type 11
Pontocerebellar Hypoplasia, Type 1d Pontocerebellar Hypoplasia, Type 12
Exosc3-Related Pontocerebellar Hypoplasia Tsen54-Related Pontocerebellar Hypoplasia
Pontocerebellar Hypoplasia Type 1

Diseases related to Pontocerebellar Hypoplasia, Type 2d via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 propionic acidemia 12.3
2 pontocerebellar hypoplasia, type 2e 11.4
3 methylmalonic acidemia 11.3
4 cleft soft palate 11.2
5 organic acidemia 11.2
6 bile duct adenocarcinoma 11.2
7 hard palate cancer 11.2
8 amino acid metabolic disorder 11.2
9 cerebral atrophy 10.4
10 pontocerebellar hypoplasia 10.2
11 microcephaly 10.1
12 spastic quadriplegia 10.1
13 quadriplegia 10.1
14 3-methylglutaconic aciduria, type iii 10.1
15 encephalopathy 10.1
16 rigid spine muscular dystrophy 1 9.7 SECISBP2 SELENON

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

Human phenotypes related to Pontocerebellar Hypoplasia, Type 2d:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 chorea 33 HP:0002072
3 clonus 33 HP:0002169
4 sleep disturbance 33 HP:0002360
5 global developmental delay 33 HP:0001263
6 spastic tetraplegia 33 HP:0002510
7 irritability 33 HP:0000737
8 intellectual disability, profound 33 HP:0002187
9 cerebellar atrophy 33 HP:0001272
10 hypoplasia of the corpus callosum 33 HP:0002079
11 cerebral atrophy 33 HP:0002059
12 abnormality of the periventricular white matter 33 HP:0002518
13 progressive microcephaly 33 HP:0000253
14 delayed myelination 33 HP:0012448
15 limb joint contracture 33 HP:0003121

Symptoms via clinical synopsis from OMIM:

58
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

UMLS symptoms related to Pontocerebellar Hypoplasia, Type 2d:


seizures, clonus, sleep disturbances

MGI Mouse Phenotypes related to Pontocerebellar Hypoplasia, Type 2d:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 normal MP:0002873 8.92 GPX4 SELENON TXNRD1 TXNRD2

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 30 SEPSECS

Anatomical Context for Pontocerebellar Hypoplasia, Type 2d

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

42
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:

76
# 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 rs146136820

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SEPSECS NM_016955.4(SEPSECS): c.1466A> T (p.Asp489Val) single nucleotide variant Pathogenic rs773876739 GRCh37 Chromosome 4, 25125593: 25125593
2 SEPSECS NM_016955.4(SEPSECS): c.1466A> T (p.Asp489Val) single nucleotide variant Pathogenic rs773876739 GRCh38 Chromosome 4, 25123971: 25123971
3 SEPSECS NM_016955.3(SEPSECS): c.1001A> G (p.Tyr334Cys) single nucleotide variant Pathogenic rs267607036 GRCh37 Chromosome 4, 25146421: 25146421
4 SEPSECS NM_016955.3(SEPSECS): c.1001A> G (p.Tyr334Cys) single nucleotide variant Pathogenic rs267607036 GRCh38 Chromosome 4, 25144799: 25144799
5 SEPSECS NM_016955.3(SEPSECS): c.715G> A (p.Ala239Thr) single nucleotide variant Pathogenic rs267607035 GRCh37 Chromosome 4, 25153671: 25153671
6 SEPSECS NM_016955.3(SEPSECS): c.715G> A (p.Ala239Thr) single nucleotide variant Pathogenic rs267607035 GRCh38 Chromosome 4, 25152049: 25152049
7 SEPSECS NM_016955.3(SEPSECS): c.808dupG (p.Ala270Glyfs) duplication Pathogenic/Likely pathogenic rs776969714 GRCh38 Chromosome 4, 25145130: 25145130
8 SEPSECS NM_016955.3(SEPSECS): c.808dupG (p.Ala270Glyfs) duplication Pathogenic/Likely pathogenic rs776969714 GRCh37 Chromosome 4, 25146752: 25146752
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 cell GO:0005623 8.96 TXNRD1 TXNRD2
2 mitochondrion GO:0005739 8.92 GPX4 SECISBP2 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 9.56 GPX4 SELENON TXNRD1 TXNRD2
2 electron transport chain GO:0022900 9.37 TXNRD1 TXNRD2
3 cell redox homeostasis GO:0045454 9.32 TXNRD1 TXNRD2
4 selenocysteine incorporation GO:0001514 9.16 SECISBP2 SEPSECS
5 cellular response to oxidative stress GO:0034599 8.96 TXNRD1 TXNRD2
6 cellular oxidant detoxification GO:0098869 8.8 GPX4 TXNRD1 TXNRD2

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.46 GPX4 SELENON TXNRD1 TXNRD2
2 electron transfer activity GO:0009055 9.32 TXNRD1 TXNRD2
3 flavin adenine dinucleotide binding GO:0050660 9.26 TXNRD1 TXNRD2
4 oxidoreductase activity, acting on a sulfur group of donors, NAD(P) as acceptor GO:0016668 8.96 TXNRD1 TXNRD2
5 thioredoxin-disulfide reductase activity GO:0004791 8.62 TXNRD1 TXNRD2

Sources for Pontocerebellar Hypoplasia, Type 2d

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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