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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

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

Disease Browser
Parent Node: Acidosis, Lactic (D000140)
Parent Node: Cholestasis (D002779)
Parent Node: Fetal Growth Retardation (D005317)
Parent Node: Hemosiderosis (D006486)
Parent Node: Metabolism, Inborn Errors (D008661)
Parent Node: Mitochondrial Diseases (D028361)
Parent Node: Renal Aminoacidurias (D000608)
..Starting node ..Finnish lethal neonatal metabolic syndrome (C537934)
Child Nodes:
Sister Nodes:
..Cystinuria (D003555) 3
..Dicarboxylicaminoaciduria (C536171)
..Finnish lethal neonatal metabolic syndrome (C537934)
..Hartnup Disease (D006250)
..Histidinuria renal tubular defect (C538321)
..Rowley-Rosenberg syndrome (C535874)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4312

Name:

Finnish lethal neonatal metabolic syndrome

Definition:

Alternative IDs:

OMIM:603358

ParentIDs:

TreeNumbers:

C06.130.120.135/C537934 |C12.777.419.815.885/C537934 |C13.351.968.419.815.885/C537934 |C13.703.277.370/C537934 |C16.300.390/C537934 |C16.320.565.861.885/C537934 |C16.320.565/C537934 |C18.452.076.176.180/C537934 |C18.452.565.500.500/C537934 |C18.452.648.861.885/C5

Synonyms:

Slim Mappings:

Reference:

MedGen: C537934
MeSH: C537934
OMIM: 603358;

Genes: BCS1L;

Phenotypes

1	HP:0003355	Aminoaciduria	HP:0040284
2	HP:0001396	Cholestasis	HP:0040284
3	HP:0004925	Chronic lactic acidosis
4	HP:0003281	Increased circulating ferritin concentration
5	HP:0003452	Increased serum iron
6	HP:0003542	Increased serum pyruvate
7	HP:0001511	Intrauterine growth retardation
8	HP:0001319	Neonatal hypotonia	HP:0040284

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_004328.4(BCS1L):c.-50+155T>A	617	BCS1L	Likely pathogenic	386833855	RCV000049824;	N	MedGen:C1864002,OMIM:603358,ORPHA:53693	2	219525123	219525123	NM_004328.4:c.-50+155T>A		NC_000002.11:g.219525123T>A	-	C1864002 603358 GRACILE syndrome
NM_001257342.1(BCS1L):c.232A>G (p.Ser78Gly)	617	BCS1L	Pathogenic	28937590	RCV000006542;	N	MedGen:C1864002,OMIM:603358,ORPHA:53693	2	219525942	219525942	NM_001257342.1:c.232A>G	NP_001244271.1:p.Ser78Gly	NC_000002.11:g.219525942A>G	OMIM Allelic Variant:603647.0005	C1864002 603358 GRACILE syndrome
NM_004328.4(BCS1L):c.320+1G>T	617	BCS1L	Likely pathogenic	386833856	RCV000049825;	N	MedGen:C1864002,OMIM:603358,ORPHA:53693	2	219526031	219526031	NM_004328.4:c.320+1G>T		NC_000002.11:g.219526031G>T	-	C1864002 603358 GRACILE syndrome
NM_004328.4(BCS1L):c.431G>A (p.Arg144Gln)	617	BCS1L	Likely pathogenic	386833857	RCV000049826;	N	MedGen:C1864002,OMIM:603358,ORPHA:53693	2	219526239	219526239	NM_004328.4:c.431G>A	NP_004319.1:p.Arg144Gln	NC_000002.11:g.219526239G>A	-	C1864002 603358 GRACILE syndrome
NM_004328.4(BCS1L):c.980T>C (p.Val327Ala)	617	BCS1L	Likely pathogenic	386833858	RCV000049827;	N	MedGen:C1864002,OMIM:603358,ORPHA:53693	2	219527696	219527696	NM_004328.4:c.980T>C	NP_004319.1:p.Val327Ala	NC_000002.11:g.219527696T>C	-	C1864002 603358 GRACILE syndrome