Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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

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

Disease Browser
Parent Node: Myoclonus (D009207)
Parent Node: Renal Insufficiency (D051437)
..Starting node ..EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
Child Nodes:
Sister Nodes:
..Acute Kidney Injury (D058186) 2
..Arthrogryposis renal dysfunction cholestasis syndrome (C535382)
..Cardio-Renal Syndrome (D059347)
..EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE (OMIM:254900)
..Hyperuricemic Nephropathy, Familial Juvenile 2 (C567760)
..Lutz Richner Landolt syndrome (C537726)
..Nephrolithiasis, X-Linked Recessive, with Renal Failure (C562901)
..Papillorenal syndrome (C537168)
..Renal Insufficiency, Chronic (D051436) 4
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3893

Name:

EPILEPSY, PROGRESSIVE MYOCLONIC, 4, WITH OR WITHOUT RENAL FAILURE

Definition:

Alternative IDs:

ParentIDs:

MESH:D009207|MESH:D051437

TreeNumbers:

C10.597.350.500/254900 |C12.777.419.780/254900 |C13.351.968.419.780/254900 |C23.888.592.350.500/254900

Synonyms:

ACTION MYOCLONUS-RENAL FAILURE SYNDROME |AMRF |EPM4 |MYOCLONUS-NEPHROPATHY SYNDROME

Slim Mappings:

Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: 254900
MeSH: 254900
OMIM: 254900;

Genes: SCARB2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002197	Generalized-onset seizure
3	HP:0001272	Cerebellar atrophy
4	HP:0001260	Dysarthria
5	HP:0002015	Dysphagia
6	HP:0000097	Focal segmental glomerulosclerosis
7	HP:0002066	Gait ataxia
8	HP:0002080	Intention tremor
9	HP:0001336	Myoclonus
10	HP:0000112	Nephropathy
11	HP:0000100	Nephrotic syndrome
12	HP:0002174	Postural tremor
13	HP:0000093	Proteinuria
14	HP:0003678	Rapidly progressive
15	HP:0000083	Renal insufficiency
16	HP:0001873	Thrombocytopenia

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_005506.3(SCARB2):c.1258delG (p.Glu420Argfs)	950	SCARB2	Pathogenic	727502782	RCV000023184;	N	MedGen:C0751779,OMIM:254900,ORPHA:163696	4	77084518	77084518	NM_005506.3:c.1258delG	NP_005497.1:p.Glu420Argfs	NC_000004.11:g.77084518delC	OMIM Allelic Variant:602257.0006	C0751779 254900 Epilepsy, progressive myoclonic 4, with or without renal failure
NM_005506.3(SCARB2):c.1239+1G>T	950	SCARB2	Pathogenic	727502772	RCV000007801;	N	MedGen:C0751779,OMIM:254900,ORPHA:163696	4	77087402	77087402	NM_005506.3:c.1239+1G>T		NC_000004.11:g.77087402C>A	OMIM Allelic Variant:602257.0001	C0751779 254900 Epilepsy, progressive myoclonic 4, with or without renal failure
NM_005506.3(SCARB2):c.1187+2dupT	950	SCARB2	Pathogenic	727502783	RCV000023185;	N	MedGen:C0751779,OMIM:254900,ORPHA:163696	4	77089554	77089554	NM_005506.3:c.1187+2dupT		NC_000004.11:g.77089554dupA	OMIM Allelic Variant:602257.0007	C0751779 254900 Epilepsy, progressive myoclonic 4, with or without renal failure
NM_005506.3(SCARB2):c.1114-2A>C	950	SCARB2	Pathogenic	727502781	RCV000023183;	N	MedGen:C0751779,OMIM:254900,ORPHA:163696	4	77089631	77089631	NM_005506.3:c.1114-2A>C		NC_000004.11:g.77089631T>G	OMIM Allelic Variant:602257.0005	C0751779 254900 Epilepsy, progressive myoclonic 4, with or without renal failure
NM_005506.3(SCARB2):c.862C>T (p.Gln288Ter)	950	SCARB2	Pathogenic	121909118	RCV000007803;	N	MedGen:C0751779,OMIM:254900,ORPHA:163696	4	77095429	77095429	NM_005506.3:c.862C>T	NP_005497.1:p.Gln288Ter	NC_000004.11:g.77095429G>A	OMIM Allelic Variant:602257.0003	C0751779 254900 Epilepsy, progressive myoclonic 4, with or without renal failure
NM_005506.3(SCARB2):c.533G>A (p.Trp178Ter)	950	SCARB2	Pathogenic	121909119	RCV000007804;	N	MedGen:C0751779,OMIM:254900,ORPHA:163696	4	77100749	77100749	NM_005506.3:c.533G>A	NP_005497.1:p.Trp178Ter	NC_000004.11:g.77100749C>T	OMIM Allelic Variant:602257.0004	C0751779 254900 Epilepsy, progressive myoclonic 4, with or without renal failure
NM_005506.3(SCARB2):c.434_435dupAG (p.Trp146Serfs)	950	SCARB2	Pathogenic	727502773	RCV000007802; RCV000188810;	N	MedGen:C0751779,OMIM:254900,ORPHA:163696; MedGen:CN221809	4	77100847	77100848	NM_005506.3:c.434_435dupAG	NP_005497.1:p.Trp146Serfs	NC_000004.11:g.77100847_77100848dupCT	OMIM Allelic Variant:602257.0002	C0751779 254900 Epilepsy, progressive myoclonic 4, with or without renal failure; CN221809 not provided