MCID: PNT045
MIFTS: 33

Pontocerebellar Hypoplasia, Type 1a

Categories: Genetic diseases, Neuronal diseases, Muscle diseases, Rare diseases, Fetal diseases, Eye diseases, Metabolic 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, muscular fasciculation and muscle weakness. An important gene associated with Pontocerebellar Hypoplasia, Type 1a is VRK1 (Vaccinia Related 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
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 11.7
2 pontocerebellar hypoplasia, type 1b 10.9
3 pontocerebellar hypoplasia, type 1c 10.9
4 pontocerebellar hypoplasia, type 4 10.8
5 pontocerebellar hypoplasia, type 2a 10.8
6 pontocerebellar hypoplasia, type 3 10.8
7 pontocerebellar hypoplasia, type 5 10.8
8 pontocerebellar hypoplasia, type 6 10.8
9 pontocerebellar hypoplasia, type 2b 10.8
10 pontocerebellar hypoplasia, type 2c 10.8
11 pontocerebellar hypoplasia, type 8 10.8
12 pontocerebellar hypoplasia, type 7 10.8
13 pontocerebellar hypoplasia, type 10 10.8
14 pontocerebellar hypoplasia, type 9 10.8
15 pontocerebellar hypoplasia, type 11 10.8
16 spinal muscular atrophy 10.1
17 pontocerebellar hypoplasia 10.1
18 muscular atrophy 10.1
19 trehalase deficiency 9.0 CHMP1A VRK1

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 global developmental delay 32 HP:0001263
5 generalized hypotonia 32 HP:0001290
6 cerebellar hypoplasia 32 HP:0001321
7 muscle weakness 32 HP:0001324
8 hyperreflexia 32 HP:0001347
9 abnormality of the foot 32 HP:0001760
10 respiratory insufficiency 32 HP:0002093
11 fasciculations 32 HP:0002380
12 degeneration of anterior horn cells 32 HP:0002398
13 congenital contracture 32 HP:0002803
14 emg 32 HP:0003445
15 hypoplasia of the ventral pons 32 HP:0006850
16 basal ganglia gliosis 32 HP:0006999
17 spinal muscular atrophy 32 HP:0007269
18 feeding difficulties in infancy 32 HP:0008872
19 hypoplasia of the pons 32 HP:0012110
20 neuronal loss in basal ganglia 32 HP:0200147

UMLS symptoms related to Pontocerebellar Hypoplasia, Type 1a:


ataxia, muscular fasciculation, muscle weakness, weakness

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

Publications for Pontocerebellar Hypoplasia, Type 1a

Articles related to Pontocerebellar Hypoplasia, Type 1a:

# Title Authors Year
1
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 42)
# 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 Pathogenic rs387906830 GRCh37 Chromosome 14, 97319190: 97319190
4 VRK1 NM_003384.2(VRK1): c.397C> T (p.Arg133Cys) single nucleotide variant Pathogenic rs387906830 GRCh38 Chromosome 14, 96852853: 96852853
5 VRK1 NM_003384.2(VRK1): c.266G> A (p.Arg89Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs773138218 GRCh37 Chromosome 14, 97312481: 97312481
6 VRK1 NM_003384.2(VRK1): c.266G> A (p.Arg89Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs773138218 GRCh38 Chromosome 14, 96846144: 96846144
7 VRK1 NM_003384.2(VRK1): c.356A> G (p.His119Arg) single nucleotide variant Likely pathogenic rs371295780 GRCh37 Chromosome 14, 97313663: 97313663
8 VRK1 NM_003384.2(VRK1): c.356A> G (p.His119Arg) single nucleotide variant Likely pathogenic rs371295780 GRCh38 Chromosome 14, 96847326: 96847326
9 VRK1 NM_003384.2(VRK1): c.961C> T (p.Arg321Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs772731615 GRCh37 Chromosome 14, 97326965: 97326965
10 VRK1 NM_003384.2(VRK1): c.961C> T (p.Arg321Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs772731615 GRCh38 Chromosome 14, 96860628: 96860628
11 VRK1 NM_003384.2(VRK1): c.1150A> G (p.Ile384Val) single nucleotide variant Uncertain significance rs147604836 GRCh38 Chromosome 14, 96876111: 96876111
12 VRK1 NM_003384.2(VRK1): c.1150A> G (p.Ile384Val) single nucleotide variant Uncertain significance rs147604836 GRCh37 Chromosome 14, 97342448: 97342448
13 VRK1 NM_003384.2(VRK1): c.706G> A (p.Val236Met) single nucleotide variant Conflicting interpretations of pathogenicity rs771364038 GRCh38 Chromosome 14, 96855353: 96855353
14 VRK1 NM_003384.2(VRK1): c.706G> A (p.Val236Met) single nucleotide variant Conflicting interpretations of pathogenicity rs771364038 GRCh37 Chromosome 14, 97321690: 97321690
15 VRK1 NM_003384.2(VRK1): c.901A> G (p.Lys301Glu) single nucleotide variant Uncertain significance rs149661915 GRCh38 Chromosome 14, 96860568: 96860568
16 VRK1 NM_003384.2(VRK1): c.901A> G (p.Lys301Glu) single nucleotide variant Uncertain significance rs149661915 GRCh37 Chromosome 14, 97326905: 97326905
17 VRK1 NM_003384.2(VRK1): c.375-8G> C single nucleotide variant Conflicting interpretations of pathogenicity rs191021502 GRCh38 Chromosome 14, 96852823: 96852823
18 VRK1 NM_003384.2(VRK1): c.375-8G> C single nucleotide variant Conflicting interpretations of pathogenicity rs191021502 GRCh37 Chromosome 14, 97319160: 97319160
19 VRK1 NM_003384.2(VRK1): c.1020C> T (p.Asp340=) single nucleotide variant Conflicting interpretations of pathogenicity rs147853760 GRCh37 Chromosome 14, 97327024: 97327024
20 VRK1 NM_003384.2(VRK1): c.1020C> T (p.Asp340=) single nucleotide variant Conflicting interpretations of pathogenicity rs147853760 GRCh38 Chromosome 14, 96860687: 96860687
21 VRK1 NM_003384.2(VRK1): c.1021C> T (p.Leu341Phe) single nucleotide variant Uncertain significance rs139734064 GRCh38 Chromosome 14, 96860688: 96860688
22 VRK1 NM_003384.2(VRK1): c.1021C> T (p.Leu341Phe) single nucleotide variant Uncertain significance rs139734064 GRCh37 Chromosome 14, 97327025: 97327025
23 VRK1 NM_003384.2(VRK1): c.883_886delAAAC (p.Lys295Glnfs) deletion Pathogenic GRCh37 Chromosome 14, 97322917: 97322920
24 VRK1 NM_003384.2(VRK1): c.883_886delAAAC (p.Lys295Glnfs) deletion Pathogenic GRCh38 Chromosome 14, 96856580: 96856583
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 VRK1 NM_003384.2(VRK1): c.1160G> A (p.Arg387His) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 97347514: 97347514
28 VRK1 NM_003384.2(VRK1): c.1160G> A (p.Arg387His) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 96881177: 96881177
29 CHMP1A NM_002768.4(CHMP1A): c.346G> A (p.Glu116Lys) single nucleotide variant Pathogenic rs1064794609 GRCh37 Chromosome 16, 89713646: 89713646
30 CHMP1A NM_002768.4(CHMP1A): c.346G> A (p.Glu116Lys) single nucleotide variant Pathogenic rs1064794609 GRCh38 Chromosome 16, 89647238: 89647238
31 VRK1 NM_003384.2(VRK1): c.6delT (p.Arg3Valfs) deletion Pathogenic GRCh37 Chromosome 14, 97299814: 97299814
32 VRK1 NM_003384.2(VRK1): c.6delT (p.Arg3Valfs) deletion Pathogenic GRCh38 Chromosome 14, 96833477: 96833477
33 VRK1 NM_003384.2(VRK1): c.134A> G (p.Gln45Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 97299942: 97299942
34 VRK1 NM_003384.2(VRK1): c.134A> G (p.Gln45Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 96833605: 96833605
35 VRK1 NM_003384.2(VRK1): c.265C> T (p.Arg89Ter) single nucleotide variant Pathogenic rs772263867 GRCh37 Chromosome 14, 97312480: 97312480
36 VRK1 NM_003384.2(VRK1): c.265C> T (p.Arg89Ter) single nucleotide variant Pathogenic rs772263867 GRCh38 Chromosome 14, 96846143: 96846143
37 VRK1 NM_003384.2(VRK1): c.585G> C (p.Leu195Phe) single nucleotide variant Uncertain significance rs748878251 GRCh38 Chromosome 14, 96855232: 96855232
38 VRK1 NM_003384.2(VRK1): c.585G> C (p.Leu195Phe) single nucleotide variant Uncertain significance rs748878251 GRCh37 Chromosome 14, 97321569: 97321569
39 VRK1 NM_003384.2(VRK1): c.668G> T (p.Gly223Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 14, 96855315: 96855315
40 VRK1 NM_003384.2(VRK1): c.668G> T (p.Gly223Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 14, 97321652: 97321652
41 VRK1 NM_003384.2(VRK1): c.1164A> C (p.Ser388=) single nucleotide variant Likely benign rs760801260 GRCh37 Chromosome 14, 97347518: 97347518
42 VRK1 NM_003384.2(VRK1): c.1164A> C (p.Ser388=) single nucleotide variant Likely benign rs760801260 GRCh38 Chromosome 14, 96881181: 96881181

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

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
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44 MeSH
45 MESH via Orphanet
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49 NCI
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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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