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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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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Olivopontocerebellar Atrophies (D009849)
..Starting node ..Pontocerebellar Hypoplasia Type 2A (C564738)
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:

9124

Name:

Pontocerebellar Hypoplasia Type 2A

Definition:

Alternative IDs:

OMIM:277470

ParentIDs:

MESH:D009849

TreeNumbers:

C10.228.140.079.612.600/C564738 |C10.228.140.252.700.650/C564738 |C10.228.662.550.600/C564738 |C10.228.854.787.750/C564738 |C10.574.500.825.650/C564738 |C10.574.625.600/C564738 |C10.574.750/C564738 |C16.320.400.780.750/C564738

Synonyms:

PCH2 |PCH2A |PONTOCEREBELLAR HYPOPLASIA, TYPE 2A |Pontocerebellar Hypoplasia with Progressive Cerebral Atrophy |Volendam Neurodegenerative Disease

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C564738
MeSH: C564738
OMIM: 277470;

Genes: TSEN54;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003577	Congenital onset
3	HP:0002518	Abnormal periventricular white matter morphology
4	HP:0001321	Cerebellar hypoplasia
5	HP:0002120	Cerebral cortical atrophy	HP:0040283
6	HP:0003819	Death in childhood	HP:0040283
7	HP:0007308	Extrapyramidal dyskinesia
8	HP:0008872	Feeding difficulties in infancy
9	HP:0002171	Gliosis
10	HP:0012110	Hypoplasia of the pons
11	HP:0007772	Impaired smooth pursuit
12	HP:0000252	Microcephaly
13	HP:0002179	Opisthotonus
14	HP:0002033	Poor suck
15	HP:0000253	Progressive microcephaly
16	HP:0000711	Restlessness
17	HP:0001250	Seizure
18	HP:0011344	Severe global developmental delay

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_207346.2(TSEN54):c.819delG (p.Val275Trpfs)	283989	TSEN54	Pathogenic	797046057	RCV000193834;	N	MedGen:C1848526,OMIM:277470	17	73517981	73517981	NM_207346.2:c.819delG	NP_997229.2:p.Val275Trpfs	NC_000017.10:g.73517981delG	-	C1848526 277470 Pontocerebellar hypoplasia type 2A
NM_207346.2(TSEN54):c.919G>T (p.Ala307Ser)	283989	TSEN54	Pathogenic	113994152	RCV000002201; RCV000157630; RCV000157631; RCV000147790; RCV000002203;	Y	Human Phenotype Ontology:HP:0006955,Human Phenotype Ontology:HP:0007168,MedGen:C1859341; MedGen:C1848526,OMIM:277470; MedGen:C1856974,OMIM:225753,ORPHA:166063; MedGen:C1857762,OMIM:610204,ORPHA:166068	17	73518081	73518081	NM_207346.2:c.919G>T	NP_997229.2:p.Ala307Ser	NC_000017.10:g.73518081G>T	OMIM Allelic Variant:608755.0001,OMIM Allelic Variant:608755.0002	C1859341 Olivopontocerebellar hypoplasia; C1848526 277470 Pontocerebellar hypoplasia type 2A; C1856974 225753 Pontocerebellar hypoplasia type 4; C1857762 610204 Pontocerebellar hypoplasia type 5
NM_207346.2(TSEN54):c.919G>T (p.Ala307Ser)	283989	TSEN54	Pathogenic	113994152	RCV000002201; RCV000157630; RCV000157631; RCV000147790; RCV000002203;	Y	Human Phenotype Ontology:HP:0006955,Human Phenotype Ontology:HP:0007168,MedGen:C1859341; MedGen:C1848526,OMIM:277470; MedGen:C1856974,OMIM:225753,ORPHA:166063; MedGen:C1857762,OMIM:610204,ORPHA:166068	17	73518081	73518081	NM_207346.2:c.919G>T	NP_997229.2:p.Ala307Ser	NC_000017.10:g.73518081G>T	OMIM Allelic Variant:608755.0001,OMIM Allelic Variant:608755.0002	C1859341 Olivopontocerebellar hypoplasia; C1848526 277470 Pontocerebellar hypoplasia type 2A; C1856974 225753 Pontocerebellar hypoplasia type 4; C1857762 610204 Pontocerebellar hypoplasia type 5
NM_207346.2(TSEN54):c.1386_1387insTA (p.Lys463Terfs)	283989	TSEN54	Pathogenic	797046054	RCV000193727;	N	MedGen:C1848526,OMIM:277470	17	73519816	73519817	NM_207346.2:c.1386_1387insTA	NP_997229.2:p.Lys463Terfs	NC_000017.10:g.73519816_73519817insTA	-	C1848526 277470 Pontocerebellar hypoplasia type 2A
NM_207346.2(TSEN54):c.1397dupC (p.Gly467Trpfs)	283989	TSEN54	Pathogenic	797046055	RCV000194772;	N	MedGen:C1848526,OMIM:277470	17	73519827	73519827	NM_207346.2:c.1397dupC	NP_997229.2:p.Gly467Trpfs	NC_000017.10:g.73519827dupC	-	C1848526 277470 Pontocerebellar hypoplasia type 2A