MCID: PNT029
MIFTS: 36

Pontocerebellar Hypoplasia Type 2d

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

Aliases & Classifications for Pontocerebellar Hypoplasia Type 2d

MalaCards integrated aliases for Pontocerebellar Hypoplasia Type 2d:

Name: Pontocerebellar Hypoplasia Type 2d 54 12 24 29 13 14
Progressive Cerebello-Cerebral Atrophy 71
Progressive Cerebellocerebral Atrophy 71
Pontocerebellar Hypoplasia, Type 2d 69
Pontocerebellar Hypoplasia 2d 71
Pch2d 71
Pcca 71

Characteristics:

OMIM:

54
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 : 54
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 progressive cerebello-cerebral atrophy, is related to pcca-related propionic acidemia and pontocerebellar hypoplasia, type 2e, and has symptoms including cerebral atrophy, seizures and irritability. 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 is Selenium Metabolism and Selenoproteins. Affiliated tissues include cerebellum and brain.

UniProtKB/Swiss-Prot : 71 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 7 Pontocerebellar Hypoplasia, Type 9
Pontocerebellar Hypoplasia, Type 2f Pontocerebellar Hypoplasia Type 2b
Pontocerebellar Hypoplasia Type 2d Pontocerebellar Hypoplasia, Type 6
Pontocerebellar Hypoplasia, Type 3 Pontocerebellar Hypoplasia, Type 1b
Pontocerebellar Hypoplasia, Type 10 Pontocerebellar Hypoplasia, Type 1c
Pontocerebellar Hypoplasia Type 1a Pontocerebellar Hypoplasia, Type 8
Pontocerebellar Hypoplasia, Type 2e Pontocerebellar Hypoplasia Type 2a
Pontocerebellar Hypoplasia Type 4 Pontocerebellar Hypoplasia Type 5
Pontocerebellar Hypoplasia Type 2c Exosc3-Related Pontocerebellar Hypoplasia
Tsen54-Related Pontocerebellar Hypoplasia Pontocerebellar Hypoplasia Type 1
Tsen2-Related Pontocerebellar Hypoplasia Tsen34-Related Pontocerebellar Hypoplasia

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

(show all 18)
id Related Disease Score Top Affiliating Genes
1 pcca-related propionic acidemia 12.1
2 pontocerebellar hypoplasia, type 2e 11.9
3 propionicacidemia 11.9
4 methylmalonic acidemia 11.0
5 amino acid metabolic disorder 10.9
6 organic acidemia 10.9
7 bile duct adenocarcinoma 10.9
8 multiple carboxylase deficiency 10.9
9 cerebral atrophy 10.1
10 cerebritis 10.1
11 pontocerebellar hypoplasia 10.0
12 spasticity 9.9
13 microcephaly 9.9
14 spastic quadriplegia 9.9
15 quadriplegia 9.9
16 muscular dystrophy, rigid spine, 1 9.4 SECISBP2 SELENON
17 ischemic fasciitis 9.2 SELENON SELENOS
18 epilepsy, partial, with pericentral spikes 8.3 SECISBP2 SELENON SELENOS SEPSECS

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:

54

Neurologic- Central Nervous System:
thin corpus callosum
sleep disturbances
seizures
lack of psychomotor development
clonus
more
Head And Neck- Head:
microcephaly, postnatal, progressive

Neurologic- Behavioral Psychiatric Manifestations:
irritability

Skeletal- Limbs:
contractures


Clinical features from OMIM:

613811

Human phenotypes related to Pontocerebellar Hypoplasia Type 2d:

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

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:

id Genetic test Affiliating Genes
1 Pontocerebellar Hypoplasia Type 2d 29 24 SEPSECS

Anatomical Context for Pontocerebellar Hypoplasia Type 2d

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

39
Cerebellum, Brain

Publications for Pontocerebellar Hypoplasia Type 2d

Articles related to Pontocerebellar Hypoplasia Type 2d:

id 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:

71
id 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
id 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.715G> A (p.Ala239Thr) single nucleotide variant Pathogenic rs267607035 GRCh37 Chromosome 4, 25153671: 25153671
3 SEPSECS NM_016955.3(SEPSECS): c.1466A> T (p.Asp489Val) single nucleotide variant Pathogenic rs773876739 GRCh37 Chromosome 4, 25125593: 25125593

Expression for Pontocerebellar Hypoplasia Type 2d

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

Pathways for Pontocerebellar Hypoplasia Type 2d

Pathways related to Pontocerebellar Hypoplasia Type 2d according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.59 SECISBP2 SELENON SELENOS SEPSECS

GO Terms for Pontocerebellar Hypoplasia Type 2d

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

id Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 8.96 SECISBP2 SEPSECS
2 selenocysteine incorporation GO:0001514 8.62 SECISBP2 SEPSECS

Sources for Pontocerebellar Hypoplasia Type 2d

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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