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Hello! Guest! Please Login or Register! Clinician Mode

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

Hearing Loss Disease Portal

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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 6 (C548074)
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:

9129

Name:

Pontocerebellar Hypoplasia Type 6

Definition:

Alternative IDs:

OMIM:611523

ParentIDs:

MESH:D009849

TreeNumbers:

C10.228.140.079.612.600/C548074 |C10.228.140.252.700.650/C548074 |C10.228.662.550.600/C548074 |C10.228.854.787.750/C548074 |C10.574.500.825.650/C548074 |C10.574.625.600/C548074 |C10.574.750/C548074 |C16.320.400.780.750/C548074

Synonyms:

Encephalopathy, Fatal Infantile, With Mitochondrial Respiratory Chain Defects |PCH6 |PONTOCEREBELLAR HYPOPLASIA, TYPE 6

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C548074
MeSH: C548074
OMIM: 611523;

Genes: RARS2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003577	Congenital onset
3	HP:0001344	Absent speech
4	HP:0002104	Apnea
5	HP:0007366	Atrophy/Degeneration affecting the brainstem
6	HP:0001272	Cerebellar atrophy
7	HP:0001321	Cerebellar hypoplasia
8	HP:0002059	Cerebral atrophy
9	HP:0003819	Death in childhood
10	HP:0000490	Deeply set eye
11	HP:0001508	Failure to thrive
12	HP:0001290	Generalized hypotonia
13	HP:0001263	Global developmental delay
14	HP:0001347	Hyperreflexia
15	HP:0002490	Increased CSF lactate
16	HP:0002151	Increased serum lactate
17	HP:0002061	Lower limb spasticity
18	HP:0000341	Narrow forehead
19	HP:0000189	Narrow palate
20	HP:0002421	Poor head control
21	HP:0002033	Poor suck
22	HP:0003676	Progressive
23	HP:0000253	Progressive microcephaly
24	HP:0000426	Prominent nasal bridge
25	HP:0001250	Seizure
26	HP:0006986	Upper limb spasticity
27	HP:0003828	Variable expressivity

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_020320.4(RARS2):c.1054_1055delAA (p.Lys352Alafs)	57038	RARS2	Likely pathogenic	797045911	RCV000194218;	N	MedGen:C1969084,OMIM:611523,ORPHA:166073	6	88229955	88229956	NM_020320.4:c.1054_1055delAA	NP_064716.2:p.Lys352Alafs	NC_000006.11:g.88229955_88229956delTT	-	C1969084 611523 Pontocerebellar hypoplasia type 6
NM_020320.4(RARS2):c.1024A>G (p.Met342Val)	57038	RARS2	Pathogenic	387907048	RCV000023898;	N	MedGen:C1969084,OMIM:611523,ORPHA:166073	6	88231193	88231193	NM_020320.4:c.1024A>G	NP_064716.2:p.Met342Val	NC_000006.11:g.88231193T>C	OMIM Allelic Variant:611524.0002	C1969084 611523 Pontocerebellar hypoplasia type 6
NM_020320.4(RARS2):c.35A>G (p.Gln12Arg)	57038	RARS2	Pathogenic	147391618	RCV000023899;	N	MedGen:C1969084,OMIM:611523,ORPHA:166073	6	88299641	88299641	NM_020320.4:c.35A>G	NP_064716.2:p.Gln12Arg	NC_000006.11:g.88299641T>C	OMIM Allelic Variant:611524.0003	C1969084 611523 Pontocerebellar hypoplasia type 6