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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Disease Browser
Parent Node: Olivopontocerebellar Atrophies (D009849)
..Starting node ..Pontocerebellar Hypoplasia Type 1 (C548069)
Child Nodes:
Sister Nodes:
..Microcephaly pontocerebellar hypoplasia dyskinesia (C537543)
..Olivopontocerebellar atrophy 1 (C538626)
..Olivopontocerebellar atrophy 3 (C538631)
..Olivopontocerebellar Atrophy II, Autosomal Recessive (C564930)
..Olivopontocerebellar Atrophy V (C563505)
..Olivopontocerebellar hypoplasia, fetal-onset (C537745)
..Pontocerebellar Hypoplasia Type 1 (C548069)
..Pontocerebellar Hypoplasia Type 2 (C548070)
..Pontocerebellar Hypoplasia Type 2A (C564738)
..Pontocerebellar Hypoplasia Type 3 (C548072)
..Pontocerebellar Hypoplasia Type 6 (C548074)
..Spinocerebellar Ataxia, X-Linked 1 (C563134)
..Spinocerebellar Atrophy With Pupillary Paralysis (C566668)
..Young McKeever Squier syndrome (C536716) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9122

Name:

Pontocerebellar Hypoplasia Type 1

Definition:

Alternative IDs:

OMIM:607596

ParentIDs:

MESH:D009849

TreeNumbers:

C10.228.140.079.612.600/C548069 |C10.228.140.252.700.650/C548069 |C10.228.662.550.600/C548069 |C10.228.854.787.750/C548069 |C10.574.500.825.650/C548069 |C10.574.625.600/C548069 |C10.574.750/C548069 |C16.320.400.780.750/C548069

Synonyms:

PCH1 |PCH1A |PONTOCEREBELLAR HYPOPLASIA, TYPE 1A |Pontocerebellar Hypoplasia With Anterior Horn Cell Disease |Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C548069
MeSH: C548069
OMIM: 607596;

Genes: VRK1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003577	Congenital onset
3	HP:0001760	Abnormal foot morphology
4	HP:0001251	Ataxia
5	HP:0006999	Basal ganglia gliosis
6	HP:0001321	Cerebellar hypoplasia
7	HP:0002803	Congenital contracture
8	HP:0002398	Degeneration of anterior horn cells
9	HP:0003445	EMG: neuropathic changes
10	HP:0002380	Fasciculations
11	HP:0008872	Feeding difficulties in infancy
12	HP:0001290	Generalized hypotonia
13	HP:0001263	Global developmental delay
14	HP:0001347	Hyperreflexia
15	HP:0012110	Hypoplasia of the pons
16	HP:0006850	Hypoplasia of the ventral pons
17	HP:0001252	Hypotonia
18	HP:0001249	Intellectual disability
19	HP:0001324	Muscle weakness
20	HP:0200147	Neuronal loss in basal ganglia
21	HP:0003676	Progressive
22	HP:0002093	Respiratory insufficiency
23	HP:0007269	Spinal muscular atrophy

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_003384.2(VRK1):c.266G>A (p.Arg89Gln)	7443	VRK1	Pathogenic;Uncertain significance	773138218	RCV000203270; RCV000178190;	N	MedGen:C1843504,OMIM:607596,ORPHA:2254; MedGen:CN221809	14	97312481	97312481	NM_003384.2:c.266G>A	NP_003375.1:p.Arg89Gln	NC_000014.8:g.97312481G>A	-	CN221809 not provided; C1843504 607596 Pontocerebellar hypoplasia type 1
NM_003384.2(VRK1):c.356A>G (p.His119Arg)	7443	VRK1	Likely pathogenic	371295780	RCV000191143;	N	MedGen:C1843504,OMIM:607596,ORPHA:2254	14	97313663	97313663	NM_003384.2:c.356A>G	NP_003375.1:p.His119Arg	NC_000014.8:g.97313663A>G	-	C1843504 607596 Pontocerebellar hypoplasia type 1
NM_003384.2(VRK1):c.397C>T (p.Arg133Cys)	7443	VRK1	Pathogenic	387906830	RCV000023167;	N	MedGen:C1843504,OMIM:607596,ORPHA:2254	14	97319190	97319190	NM_003384.2:c.397C>T	NP_003375.1:p.Arg133Cys	NC_000014.8:g.97319190C>T	OMIM Allelic Variant:602168.0002	C1843504 607596 Pontocerebellar hypoplasia type 1
NM_003384.2(VRK1):c.706G>A (p.Val236Met)	7443	VRK1	Pathogenic	771364038	RCV000203265;	N	MedGen:C1843504,OMIM:607596,ORPHA:2254	14	97321690	97321690	NM_003384.2:c.706G>A	NP_003375.1:p.Val236Met	NC_000014.8:g.97321690G>A	-	C1843504 607596 Pontocerebellar hypoplasia type 1
NM_003384.2(VRK1):c.961C>T (p.Arg321Cys)	7443	VRK1	Likely pathogenic	772731615	RCV000191144;	N	MedGen:C1843504,OMIM:607596,ORPHA:2254	14	97326965	97326965	NM_003384.2:c.961C>T	NP_003375.1:p.Arg321Cys	NC_000014.8:g.97326965C>T	-	C1843504 607596 Pontocerebellar hypoplasia type 1
NM_003384.2(VRK1):c.1072C>T (p.Arg358Ter)	7443	VRK1	Pathogenic	137853063	RCV000007926; RCV000190784; RCV000210656;	N	MedGen:C0000772,SNOMED CT:116022009,SNOMED CT:444406006; MedGen:C0950123; MedGen:C1843504,OMIM:607596,ORPHA:2254	14	97342370	97342370	NM_003384.2:c.1072C>T	NP_003375.1:p.Arg358Ter	NC_000014.8:g.97342370C>T	OMIM Allelic Variant:602168.0001	C0950123 Inborn genetic diseases; C0000772 Multiple congenital anomalies; C1843504 607596 Pontocerebellar hypoplasia type 1