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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: Diseases (C)
Parent Node: Microcephaly (D008831)
Parent Node: Young McKeever Squier syndrome (C536716)
..Starting node ..PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
Child Nodes:
Sister Nodes:
..PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9128

Name:

PONTOCEREBELLAR HYPOPLASIA, TYPE 4

Definition:

Alternative IDs:

ParentIDs:

MESH:C536716|MESH:D008831

TreeNumbers:

C05.660.207.620/225753 |C10.228.140.079.612.600/C536716/225753 |C10.228.140.252.700.650/C536716/225753 |C10.228.662.550.600/C536716/225753 |C10.228.854.787.750/C536716/225753 |C10.500.507.400.500/225753 |C10.574.500.825.650/C536716/225753 |C10.574.625.600/C5367

Synonyms:

ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA |PCH4

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: 225753
MeSH: 225753
OMIM: 225753;

Genes: TSEN54;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003577	Congenital onset
3	HP:0001939	Abnormality of metabolism/homeostasis
4	HP:0001321	Cerebellar hypoplasia
5	HP:0002803	Congenital contracture
6	HP:0001522	Death in infancy
7	HP:0002171	Gliosis
8	HP:0002365	Hypoplasia of the brainstem
9	HP:0012110	Hypoplasia of the pons
10	HP:0007105	Infantile encephalopathy
11	HP:0007001	Loss of Purkinje cells in the cerebellar vermis
12	HP:0000252	Microcephaly
13	HP:0001336	Myoclonus
14	HP:0001561	Polyhydramnios
15	HP:0001250	Seizure
16	HP:0011344	Severe global developmental delay
17	HP:0001257	Spasticity

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.277T>C (p.Ser93Pro)	283989	TSEN54	Pathogenic	113994151	RCV000002203; RCV000031854;	N	MedGen:C1856974,OMIM:225753,ORPHA:166063	17	73513145	73513145	NM_207346.2:c.277T>C	NP_997229.2:p.Ser93Pro	NC_000017.10:g.73513145T>C	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.277T>C (p.Ser93Pro)	283989	TSEN54	Pathogenic	113994151	RCV000002203; RCV000031854;	N	MedGen:C1856974,OMIM:225753,ORPHA:166063	17	73513145	73513145	NM_207346.2:c.277T>C	NP_997229.2:p.Ser93Pro	NC_000017.10:g.73513145T>C	OMIM Allelic Variant:608755.0002	C1856974 225753 Pontocerebellar hypoplasia type 4
NM_207346.2(TSEN54):c.736C>T (p.Gln246Ter)	283989	TSEN54	Pathogenic	113994153	RCV000002204;	N	MedGen:C1856974,OMIM:225753,ORPHA:166063	17	73517898	73517898	NM_207346.2:c.736C>T	NP_997229.2:p.Gln246Ter	NC_000017.10:g.73517898C>T	OMIM Allelic Variant:608755.0003	C1856974 225753 Pontocerebellar hypoplasia type 4
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.1027C>T (p.Gln343Ter)	283989	TSEN54	Pathogenic	113994154	RCV000002205;	N	MedGen:C1856974,OMIM:225753,ORPHA:166063	17	73518189	73518189	NM_207346.2:c.1027C>T	NP_997229.2:p.Gln343Ter	NC_000017.10:g.73518189C>T	OMIM Allelic Variant:608755.0004	C1856974 225753 Pontocerebellar hypoplasia type 4