PCH1A
MCID: PNT045
MIFTS: 34

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 74
Pontocerebellar Hypoplasia with Anterior Horn Cell Disease 57 74
Pch1a 57 74
Pontocerebellar Hypoplasia Type 1 72
Pontocerebellar Hypoplasia 1a 74
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:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0060265
MeSH 44 D002526
MedGen 42 C1843504
UMLS 72 C1843504

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. (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, and has symptoms including ataxia, muscle weakness and muscular fasciculation. 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

Disease Ontology : 12 A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has material basis in mutation in the VRK1 gene.

UniProtKB/Swiss-Prot : 74 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 Pontocerebellar Hypoplasia, Type 12
Pontocerebellar Hypoplasia Type 1

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

(show all 28)
# Related Disease Score Top Affiliating Genes
1 pontocerebellar hypoplasia type 1 12.0
2 pontocerebellar hypoplasia 11.8
3 pontocerebellar hypoplasia, type 1b 11.2
4 pontocerebellar hypoplasia, type 1c 11.2
5 pontocerebellar hypoplasia, type 1d 11.2
6 pontocerebellar hypoplasia, type 4 11.1
7 pontocerebellar hypoplasia, type 2a 11.1
8 pontocerebellar hypoplasia, type 3 11.1
9 pontocerebellar hypoplasia, type 5 11.1
10 pontocerebellar hypoplasia, type 6 11.1
11 pontocerebellar hypoplasia, type 2b 11.1
12 pontocerebellar hypoplasia, type 2c 11.1
13 pontocerebellar hypoplasia, type 8 11.1
14 pontocerebellar hypoplasia, type 7 11.1
15 pontocerebellar hypoplasia, type 10 11.1
16 pontocerebellar hypoplasia, type 9 11.1
17 pontocerebellar hypoplasia, type 11 11.1
18 spinal muscular atrophy 10.4
19 muscular atrophy 10.4
20 spinal muscular atrophy, type i 10.3
21 spinal muscular atrophy, x-linked 2 10.3
22 alkuraya-kucinskas syndrome 10.3
23 olivopontocerebellar atrophy 10.3
24 anterior horn cell disease 10.3
25 microcephaly 10.3
26 hypotonia 10.3
27 congenital amyoplasia 10.3
28 cavitary optic disc anomalies 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

Human phenotypes related to Pontocerebellar Hypoplasia, Type 1a:

32 (show all 21)
# 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 generalized hypotonia 32 HP:0001290
10 spinal muscular atrophy 32 HP:0007269
11 abnormality of the foot 32 HP:0001760
12 cerebellar hypoplasia 32 HP:0001321
13 fasciculations 32 HP:0002380
14 congenital contracture 32 HP:0002803
15 emg: neuropathic changes 32 HP:0003445
16 hypoplasia of the pons 32 HP:0012110
17 neuronal loss in basal ganglia 32 HP:0200147
18 degeneration of anterior horn cells 32 HP:0002398
19 basal ganglia gliosis 32 HP:0006999
20 psychomotor retardation 32 HP:0025356
21 hypoplasia of the ventral pons 32 HP:0006850

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
hyperreflexia
neuronal loss in basal ganglia
weakness
psychomotor 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

UMLS symptoms related to Pontocerebellar Hypoplasia, Type 1a:


ataxia, muscle weakness, muscular fasciculation, 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 PMID Year
1
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 8 71
21937992 2011
2
Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. 8 71
19646678 2009
3
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. 8
21063731 2011
4
Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible? 8
20803644 2010
5
Consensus statement for standard of care in spinal muscular atrophy. 71
17761659 2007
6
Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy. 8
12548734 2003
7
Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. 8
8147499 1993
8
Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA). 8
2407400 1990
9
Cerebellar hypoplasia in Werdnig-Hoffmann disease. 8
13729575 1961
10
Effect of in situ expression of human interleukin-6 on antibody responses against Salmonella typhimurium antigens. 38
12832117 2003

Variations for Pontocerebellar Hypoplasia, Type 1a

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

6 (show all 23)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 VRK1 NM_003384.3(VRK1): c.879_882AAAC[1] (p.Lys295fs) short repeat Pathogenic rs779282547 14:97322917-97322920 14:96856580-96856583
2 CHMP1A NM_002768.5(CHMP1A): c.346G> A (p.Glu116Lys) single nucleotide variant Pathogenic rs1064794609 16:89713646-89713646 16:89647238-89647238
3 VRK1 NM_003384.3(VRK1): c.265C> T (p.Arg89Ter) single nucleotide variant Pathogenic rs772263867 14:97312480-97312480 14:96846143-96846143
4 VRK1 NM_003384.3(VRK1): c.1072C> T (p.Arg358Ter) single nucleotide variant Pathogenic rs137853063 14:97342370-97342370 14:96876033-96876033
5 VRK1 NM_003384.3(VRK1): c.976C> T (p.Gln326Ter) single nucleotide variant Pathogenic 14:97326980-97326980 14:96860643-96860643
6 VRK1 NM_003384.3(VRK1): c.356A> G (p.His119Arg) single nucleotide variant Likely pathogenic rs371295780 14:97313663-97313663 14:96847326-96847326
7 VRK1 NM_003384.3(VRK1): c.961C> T (p.Arg321Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs772731615 14:97326965-97326965 14:96860628-96860628
8 VRK1 NM_003384.3(VRK1): c.1020C> T (p.Asp340=) single nucleotide variant Conflicting interpretations of pathogenicity rs147853760 14:97327024-97327024 14:96860687-96860687
9 VRK1 NM_003384.3(VRK1): c.266G> A (p.Arg89Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs773138218 14:97312481-97312481 14:96846144-96846144
10 VRK1 NM_003384.3(VRK1): c.706G> A (p.Val236Met) single nucleotide variant Conflicting interpretations of pathogenicity rs771364038 14:97321690-97321690 14:96855353-96855353
11 VRK1 NM_003384.3(VRK1): c.375-8G> C single nucleotide variant Conflicting interpretations of pathogenicity rs191021502 14:97319160-97319160 14:96852823-96852823
12 VRK1 NM_003384.3(VRK1): c.901A> G (p.Lys301Glu) single nucleotide variant Uncertain significance rs149661915 14:97326905-97326905 14:96860568-96860568
13 VRK1 NM_003384.3(VRK1): c.1174_1177del (p.Lys392fs) deletion Uncertain significance 14:97347524-97347528 14:96881191-96881194
14 VRK1 NM_003384.3(VRK1): c.398G> A (p.Arg133His) single nucleotide variant Uncertain significance 14:97319191-97319191 14:96852854-96852854
15 VRK1 NM_003384.3(VRK1): c.1150A> G (p.Ile384Val) single nucleotide variant Uncertain significance rs147604836 14:97342448-97342448 14:96876111-96876111
16 VRK1 NM_003384.3(VRK1): c.397C> T (p.Arg133Cys) single nucleotide variant Uncertain significance rs387906830 14:97319190-97319190 14:96852853-96852853
17 VRK1 NM_003384.3(VRK1): c.585G> C (p.Leu195Phe) single nucleotide variant Uncertain significance rs748878251 14:97321569-97321569 14:96855232-96855232
18 VRK1 NM_003384.3(VRK1): c.668G> T (p.Gly223Val) single nucleotide variant Uncertain significance rs1555361508 14:97321652-97321652 14:96855315-96855315
19 VRK1 NM_003384.3(VRK1): c.134A> G (p.Gln45Arg) single nucleotide variant Uncertain significance rs1372198425 14:97299942-97299942 14:96833605-96833605
20 VRK1 NM_003384.3(VRK1): c.704G> A (p.Gly235Asp) single nucleotide variant Uncertain significance rs1311364931 14:97321688-97321688 14:96855351-96855351
21 VRK1 NM_003384.3(VRK1): c.1164A> C (p.Ser388=) single nucleotide variant Likely benign rs760801260 14:97347518-97347518 14:96881181-96881181
22 VRK1 NM_003384.3(VRK1): c.45A> G (p.Ala15=) single nucleotide variant Benign rs2145635 14:97299853-97299853 14:96833516-96833516
23 VRK1 NM_003384.3(VRK1): c.705C> T (p.Gly235=) single nucleotide variant Benign rs2230532 14:97321689-97321689 14:96855352-96855352

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 VRK1 CHMP1A
2 cell division GO:0051301 8.62 VRK1 CHMP1A

Sources for Pontocerebellar Hypoplasia, Type 1a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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