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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: Heredodegenerative Disorders, Nervous System (D020271)
Parent Node: Mental Disorders (D001523)
Parent Node: Prion Diseases (D017096)
..Starting node ..Spongiform Encephalopathy with Neuropsychiatric Features (C564678)
Child Nodes:
Sister Nodes:
..Amyloidosis, Cerebral, with Spongiform Encephalopathy (C535800)
..Creutzfeldt-Jakob Syndrome (D007562) 3
..Encephalopathy, Bovine Spongiform (D016643) 1
..Gerstmann-Straussler-Scheinker Disease (D016098)
..Insomnia, Fatal Familial (D034062)
..Kuru (D007729)
..Scrapie (D012608)
..Spongiform Encephalopathy with Neuropsychiatric Features (C564678)
..Wasting Disease, Chronic (D034081)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10632

Name:

Spongiform Encephalopathy with Neuropsychiatric Features

Definition:

Alternative IDs:

OMIM:606688

ParentIDs:

MESH:D001523|MESH:D017096|MESH:D020271

TreeNumbers:

C10.228.228.800/C564678 |C10.574.500/C564678 |C10.574.843/C564678 |C16.320.400/C564678 |F03/C564678

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Mental disorder|Nervous system disease

Reference:

MedGen: C564678
MeSH: C564678
OMIM: 606688;

Genes: PRNP;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000726	Dementia
3	HP:0001298	Encephalopathy
4	HP:0002171	Gliosis
5	HP:0000751	Personality changes

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_000311.3(PRNP):c.313C>A (p.Pro105Thr)	5621	PRNP	Pathogenic	74315414	RCV000014355; RCV000020240;	N	MedGen:C0162534; MedGen:C1847650,OMIM:606688	20	4680179	4680179	NM_000311.3:c.313C>A	NP_000302.1:p.Pro105Thr	NC_000020.10:g.4680179C>A,NC_000020.10:g.4680179C>T	OMIM Allelic Variant:176640.0025	C0162534 Genetic prion diseases; C1847650 606688 Spongiform encephalopathy with neuropsychiatric features
NM_000311.3(PRNP):c.512A>G (p.Asn171Ser)	5621	PRNP	Benign;Uncertain significance	16990018	RCV000014348; RCV000020247;	N	MedGen:C0162534; MedGen:C1847650,OMIM:606688	20	4680378	4680378	NM_000311.3:c.512A>G	NP_000302.1:p.Asn171Ser	NC_000020.10:g.4680378A>G	OMIM Allelic Variant:176640.0018	C0162534 Genetic prion diseases; C1847650 606688 Spongiform encephalopathy with neuropsychiatric features
NM_000311.3(PRNP):c.547A>G (p.Thr183Ala)	5621	PRNP	Pathogenic	74315411	RCV000014347; RCV000020250;	N	MedGen:C0162534; MedGen:C1847650,OMIM:606688	20	4680413	4680413	NM_000311.3:c.547A>G	NP_000302.1:p.Thr183Ala	NC_000020.10:g.4680413A>G	OMIM Allelic Variant:176640.0022	C0162534 Genetic prion diseases; C1847650 606688 Spongiform encephalopathy with neuropsychiatric features
NM_000311.3(PRNP):c.560A>G (p.His187Arg)	5621	PRNP	Pathogenic	74315413	RCV000014353; RCV000014354; RCV000020251;	N	MedGen:C0017495,OMIM:137440,ORPHA:356,SNOMED CT:67155006; MedGen:C0162534; MedGen:C1847650,OMIM:606688	20	4680426	4680426	NM_000311.3:c.560A>G	NP_000302.1:p.His187Arg	NC_000020.10:g.4680426A>G	OMIM Allelic Variant:176640.0024	C0162534 Genetic prion diseases; C0017495 137440 Gerstmann-Straussler-Scheinker syndrome; C1847650 606688 Spongiform encephalopathy with neuropsychiatric features