PCH1A
MCID: PNT045
MIFTS: 35

Pontocerebellar Hypoplasia, Type 1a (PCH1A)

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 1a

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 1a:

Name: Pontocerebellar Hypoplasia, Type 1a 57
Pontocerebellar Hypoplasia Type 1a 57 12 29 13 6
Pontocerebellar Hypoplasia with Infantile Spinal Muscular Atrophy 57 75
Pontocerebellar Hypoplasia with Anterior Horn Cell Disease 57 75
Pch1a 57 75
Pontocerebellar Hypoplasia Type 1 73
Pontocerebellar Hypoplasia 1a 75
Pch1 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset prenatally or at birth
death often occurs in childhood
clinically resembles spinal muscular atrophy-1 (sma1, )


HPO:

32
pontocerebellar hypoplasia, type 1a:
Onset and clinical course congenital onset progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Pontocerebellar Hypoplasia, Type 1a

OMIM : 57 Pontocerebellar hypoplasia (PCH) refers to a group of severe neurodegenerative disorders affecting growth and function of the brainstem and cerebellum, resulting in little or no development. Different types were classified based on the clinical picture and the spectrum of pathologic changes. PCH type 1 is characterized by central and peripheral motor dysfunction associated with anterior horn cell degeneration resembling infantile spinal muscular atrophy (SMA; see SMA1, 253300); death usually occurs early. In PCH type 2 (see PCH2A, 277470), there is progressive microcephaly from birth combined with extrapyramidal dyskinesias. PCH3 (608027) is characterized by hypotonia, hyperreflexia, microcephaly, optic atrophy, and seizures. PCH4 (225753) is characterized by hypertonia, joint contractures, olivopontocerebellar hypoplasia, and early death. Patients with PCH5 (610204) have cerebellar hypoplasia apparent in the second trimester and show seizures. PCH6 (611523) is associated with mitochondrial respiratory chain defects (summary by Graham et al., 2010). Also see PCH7 (614969), PCH8 (614961), PCH9 (615809), PCH10 (615803), and PCH11 (617695). (607596)

MalaCards based summary : Pontocerebellar Hypoplasia, Type 1a, also known as pontocerebellar hypoplasia type 1a, is related to pontocerebellar hypoplasia type 1 and pontocerebellar hypoplasia, type 1b, and has symptoms including ataxia, muscle weakness and weakness. An important gene associated with Pontocerebellar Hypoplasia, Type 1a is VRK1 (VRK Serine/Threonine Kinase 1). Affiliated tissues include cerebellum, spinal cord and pons, and related phenotypes are intellectual disability and ataxia

UniProtKB/Swiss-Prot : 75 Pontocerebellar hypoplasia 1A: A disorder characterized by an abnormally small cerebellum and brainstem, central and peripheral motor dysfunction from birth, gliosis and spinal cord anterior horn cells degeneration resembling infantile spinal muscular atrophy. Additional features include muscle hypotonia, congenital contractures and respiratory insufficiency that is evident at birth.

Related Diseases for Pontocerebellar Hypoplasia, Type 1a

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 Exosc3-Related Pontocerebellar Hypoplasia
Tsen54-Related Pontocerebellar Hypoplasia Pontocerebellar Hypoplasia Type 1

Diseases related to Pontocerebellar Hypoplasia, Type 1a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 pontocerebellar hypoplasia type 1 11.8
2 pontocerebellar hypoplasia, type 1b 11.1
3 pontocerebellar hypoplasia, type 1c 11.1
4 pontocerebellar hypoplasia, type 1d 11.1
5 pontocerebellar hypoplasia, type 4 11.0
6 pontocerebellar hypoplasia, type 2a 11.0
7 pontocerebellar hypoplasia, type 3 11.0
8 pontocerebellar hypoplasia, type 5 11.0
9 pontocerebellar hypoplasia, type 6 11.0
10 pontocerebellar hypoplasia, type 2b 11.0
11 pontocerebellar hypoplasia, type 2c 11.0
12 pontocerebellar hypoplasia, type 8 11.0
13 pontocerebellar hypoplasia, type 7 11.0
14 pontocerebellar hypoplasia, type 10 11.0
15 pontocerebellar hypoplasia, type 9 11.0
16 pontocerebellar hypoplasia, type 11 11.0
17 spinal muscular atrophy 10.2
18 pontocerebellar hypoplasia 10.2
19 muscular atrophy 10.2

Graphical network of the top 20 diseases related to Pontocerebellar Hypoplasia, Type 1a:



Diseases related to Pontocerebellar Hypoplasia, Type 1a

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 1a

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
hyperreflexia
neuronal loss in basal ganglia
hypotonia
mental retardation
more
Respiratory:
respiratory insufficiency

Skeletal Feet:
foot deformities

Muscle Soft Tissue:
muscle weakness
fasciculations

Growth Other:
poor feeding

Skeletal:
congenital contractures


Clinical features from OMIM:

607596

Human phenotypes related to Pontocerebellar Hypoplasia, Type 1a:

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 ataxia 32 HP:0001251
3 muscular hypotonia 32 HP:0001252
4 muscle weakness 32 HP:0001324
5 hyperreflexia 32 HP:0001347
6 respiratory insufficiency 32 HP:0002093
7 global developmental delay 32 HP:0001263
8 feeding difficulties in infancy 32 HP:0008872
9 abnormality of the foot 32 HP:0001760
10 cerebellar hypoplasia 32 HP:0001321
11 fasciculations 32 HP:0002380
12 generalized hypotonia 32 HP:0001290
13 congenital contracture 32 HP:0002803
14 hypoplasia of the pons 32 HP:0012110
15 neuronal loss in basal ganglia 32 HP:0200147
16 degeneration of anterior horn cells 32 HP:0002398
17 spinal muscular atrophy 32 HP:0007269
18 hypoplasia of the ventral pons 32 HP:0006850
19 emg 32 HP:0003445
20 basal ganglia gliosis 32 HP:0006999

UMLS symptoms related to Pontocerebellar Hypoplasia, Type 1a:


ataxia, muscle weakness, weakness, muscular fasciculation

Drugs & Therapeutics for Pontocerebellar Hypoplasia, Type 1a

Search Clinical Trials , NIH Clinical Center for Pontocerebellar Hypoplasia, Type 1a

Genetic Tests for Pontocerebellar Hypoplasia, Type 1a

Genetic tests related to Pontocerebellar Hypoplasia, Type 1a:

# Genetic test Affiliating Genes
1 Pontocerebellar Hypoplasia Type 1a 29 VRK1

Anatomical Context for Pontocerebellar Hypoplasia, Type 1a

MalaCards organs/tissues related to Pontocerebellar Hypoplasia, Type 1a:

41
Cerebellum, Spinal Cord, Pons, Eye

Publications for Pontocerebellar Hypoplasia, Type 1a

Articles related to Pontocerebellar Hypoplasia, Type 1a:

# Title Authors Year
1
De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy. ( 30151950 )
2018
2
Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy. ( 12548734 )
2003

Variations for Pontocerebellar Hypoplasia, Type 1a

ClinVar genetic disease variations for Pontocerebellar Hypoplasia, Type 1a:

6 (show all 38)
# Gene Variation Type Significance SNP ID Assembly Location
1 VRK1 NM_003384.2(VRK1): c.1072C> T (p.Arg358Ter) single nucleotide variant Pathogenic rs137853063 GRCh37 Chromosome 14, 97342370: 97342370
2 VRK1 NM_003384.2(VRK1): c.1072C> T (p.Arg358Ter) single nucleotide variant Pathogenic rs137853063 GRCh38 Chromosome 14, 96876033: 96876033
3 VRK1 NM_003384.2(VRK1): c.397C> T (p.Arg133Cys) single nucleotide variant Uncertain significance rs387906830 GRCh37 Chromosome 14, 97319190: 97319190
4 VRK1 NM_003384.2(VRK1): c.397C> T (p.Arg133Cys) single nucleotide variant Uncertain significance rs387906830 GRCh38 Chromosome 14, 96852853: 96852853
5 VRK1 NM_003384.2(VRK1): c.45A> G (p.Ala15=) single nucleotide variant Benign rs2145635 GRCh37 Chromosome 14, 97299853: 97299853
6 VRK1 NM_003384.2(VRK1): c.45A> G (p.Ala15=) single nucleotide variant Benign rs2145635 GRCh38 Chromosome 14, 96833516: 96833516
7 VRK1 NM_003384.2(VRK1): c.705C> T (p.Gly235=) single nucleotide variant Benign rs2230532 GRCh37 Chromosome 14, 97321689: 97321689
8 VRK1 NM_003384.2(VRK1): c.705C> T (p.Gly235=) single nucleotide variant Benign rs2230532 GRCh38 Chromosome 14, 96855352: 96855352
9 VRK1 NM_003384.2(VRK1): c.266G> A (p.Arg89Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs773138218 GRCh37 Chromosome 14, 97312481: 97312481
10 VRK1 NM_003384.2(VRK1): c.266G> A (p.Arg89Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs773138218 GRCh38 Chromosome 14, 96846144: 96846144
11 VRK1 NM_003384.2(VRK1): c.356A> G (p.His119Arg) single nucleotide variant Likely pathogenic rs371295780 GRCh37 Chromosome 14, 97313663: 97313663
12 VRK1 NM_003384.2(VRK1): c.356A> G (p.His119Arg) single nucleotide variant Likely pathogenic rs371295780 GRCh38 Chromosome 14, 96847326: 96847326
13 VRK1 NM_003384.2(VRK1): c.961C> T (p.Arg321Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs772731615 GRCh37 Chromosome 14, 97326965: 97326965
14 VRK1 NM_003384.2(VRK1): c.961C> T (p.Arg321Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs772731615 GRCh38 Chromosome 14, 96860628: 96860628
15 VRK1 NM_003384.2(VRK1): c.1150A> G (p.Ile384Val) single nucleotide variant Uncertain significance rs147604836 GRCh38 Chromosome 14, 96876111: 96876111
16 VRK1 NM_003384.2(VRK1): c.1150A> G (p.Ile384Val) single nucleotide variant Uncertain significance rs147604836 GRCh37 Chromosome 14, 97342448: 97342448
17 VRK1 NM_003384.2(VRK1): c.706G> A (p.Val236Met) single nucleotide variant Conflicting interpretations of pathogenicity rs771364038 GRCh38 Chromosome 14, 96855353: 96855353
18 VRK1 NM_003384.2(VRK1): c.706G> A (p.Val236Met) single nucleotide variant Conflicting interpretations of pathogenicity rs771364038 GRCh37 Chromosome 14, 97321690: 97321690
19 VRK1 NM_003384.2(VRK1): c.375-8G> C single nucleotide variant Conflicting interpretations of pathogenicity rs191021502 GRCh38 Chromosome 14, 96852823: 96852823
20 VRK1 NM_003384.2(VRK1): c.375-8G> C single nucleotide variant Conflicting interpretations of pathogenicity rs191021502 GRCh37 Chromosome 14, 97319160: 97319160
21 VRK1 NM_003384.2(VRK1): c.1020C> T (p.Asp340=) single nucleotide variant Conflicting interpretations of pathogenicity rs147853760 GRCh37 Chromosome 14, 97327024: 97327024
22 VRK1 NM_003384.2(VRK1): c.1020C> T (p.Asp340=) single nucleotide variant Conflicting interpretations of pathogenicity rs147853760 GRCh38 Chromosome 14, 96860687: 96860687
23 VRK1 NM_003384.2(VRK1): c.883_886delAAAC (p.Lys295Glnfs) deletion Pathogenic GRCh38 Chromosome 14, 96856580: 96856583
24 VRK1 NM_003384.2(VRK1): c.883_886delAAAC (p.Lys295Glnfs) deletion Pathogenic GRCh37 Chromosome 14, 97322917: 97322920
25 VRK1 NM_003384.2(VRK1): c.704G> A (p.Gly235Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 96855351: 96855351
26 VRK1 NM_003384.2(VRK1): c.704G> A (p.Gly235Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 97321688: 97321688
27 CHMP1A NM_002768.4(CHMP1A): c.346G> A (p.Glu116Lys) single nucleotide variant Pathogenic rs1064794609 GRCh37 Chromosome 16, 89713646: 89713646
28 CHMP1A NM_002768.4(CHMP1A): c.346G> A (p.Glu116Lys) single nucleotide variant Pathogenic rs1064794609 GRCh38 Chromosome 16, 89647238: 89647238
29 VRK1 NM_003384.2(VRK1): c.134A> G (p.Gln45Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 97299942: 97299942
30 VRK1 NM_003384.2(VRK1): c.134A> G (p.Gln45Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 96833605: 96833605
31 VRK1 NM_003384.2(VRK1): c.265C> T (p.Arg89Ter) single nucleotide variant Pathogenic rs772263867 GRCh38 Chromosome 14, 96846143: 96846143
32 VRK1 NM_003384.2(VRK1): c.265C> T (p.Arg89Ter) single nucleotide variant Pathogenic rs772263867 GRCh37 Chromosome 14, 97312480: 97312480
33 VRK1 NM_003384.2(VRK1): c.585G> C (p.Leu195Phe) single nucleotide variant Uncertain significance rs748878251 GRCh38 Chromosome 14, 96855232: 96855232
34 VRK1 NM_003384.2(VRK1): c.585G> C (p.Leu195Phe) single nucleotide variant Uncertain significance rs748878251 GRCh37 Chromosome 14, 97321569: 97321569
35 VRK1 NM_003384.2(VRK1): c.668G> T (p.Gly223Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 96855315: 96855315
36 VRK1 NM_003384.2(VRK1): c.668G> T (p.Gly223Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 97321652: 97321652
37 VRK1 NM_003384.2(VRK1): c.1164A> C (p.Ser388=) single nucleotide variant Likely benign rs760801260 GRCh38 Chromosome 14, 96881181: 96881181
38 VRK1 NM_003384.2(VRK1): c.1164A> C (p.Ser388=) single nucleotide variant Likely benign rs760801260 GRCh37 Chromosome 14, 97347518: 97347518

Expression for Pontocerebellar Hypoplasia, Type 1a

Search GEO for disease gene expression data for Pontocerebellar Hypoplasia, Type 1a.

Pathways for Pontocerebellar Hypoplasia, Type 1a

GO Terms for Pontocerebellar Hypoplasia, Type 1a

Biological processes related to Pontocerebellar Hypoplasia, Type 1a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 8.96 CHMP1A VRK1
2 cell division GO:0051301 8.62 CHMP1A VRK1

Sources for Pontocerebellar Hypoplasia, Type 1a

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11 DGIdb
17 ExPASy
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74 UMLS via Orphanet
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