MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
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Acidosis, Lactic (D000140)
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Cholestasis (D002779)
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Fetal Growth Retardation (D005317)
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Hemosiderosis (D006486)
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Metabolism, Inborn Errors (D008661)
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Mitochondrial Diseases (D028361)
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Renal Aminoacidurias (D000608)
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Finnish lethal neonatal metabolic syndrome (C537934)

       Child Nodes:



 Sister Nodes: 
..expandCystinuria (D003555) Child3  LSDB C:1
..expandDicarboxylicaminoaciduria (C536171)
..expandFinnish lethal neonatal metabolic syndrome (C537934)  LSDB  L: 00104;
..expandHartnup Disease (D006250)
..expandHistidinuria renal tubular defect (C538321)
..expandRowley-Rosenberg syndrome (C535874)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:4312
Name:Finnish lethal neonatal metabolic syndrome
Definition:
Alternative IDs:OMIM:603358
ParentIDs:MESH:D000140|MESH:D000608|MESH:D002779|MESH:D005317|MESH:D006486|MESH:D008661|MESH:D028361
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:Fellman syndrome |Finnish, lactic acidosis with hepatic hemosiderosis |FINNISH LETHAL NEONATAL METABOLIC SYNDROME |FLNMS |GRACILE syndrome |GROWTH RETARDATION, AMINO ACIDURIA, CHOLESTASIS, IRON OVERLOAD, LACTIC ACIDOSIS, AND EARLY DEATH |Lactic Acidosis, Finni
Slim Mappings:Digestive system disease|Fetal disease|Genetic disease (inborn)|Metabolic disease|Pathology (process)|Pregnancy complication|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C537934
MeSH: C537934
OMIM: 603358;
MSeqDR LSDB: 00104;  
Genes: BCS1L;
Phenotypes
1 HP:0010719Abnormality of hair texturetypical
2 HP:0011031Abnormality of iron homeostasishallmark
3 HP:0000091Abnormality of the renal tubulehallmark
4 HP:0003355Aminoaciduria20/20
5 HP:0003355Aminoaciduriahallmark
6 HP:0001396Cholestasis19/20
7 HP:0004925Chronic lactic acidosis
8 HP:0001394Cirrhosis
NAMDC:  Cirrhosis
hallmark
9 HP:0000365Hearing impairmenthallmark
10 HP:0001397Hepatic steatosis
NAMDC:  Hepatopathy with steatosis or oncocytic changes by liver biopsy
hallmark
11 HP:0003281Increased serum ferritin
12 HP:0003452Increased serum iron
13 HP:0003542Increased serum pyruvate
14 HP:0001511Intrauterine growth retardation
15 HP:0001319Neonatal hypotonia
NAMDC:  Floppy baby
3/20
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_004328.4(BCS1L):c.-50+155T>A617BCS1LLikely pathogenic386833855RCV000049824; NMedGen:C1864002,OMIM:603358,ORPHA:536932219525123219525123NM_004328.4:c.-50+155T>ANC_000002.11:g.219525123T>A-C1864002 603358 GRACILE syndrome
NM_001257342.1(BCS1L):c.232A>G (p.Ser78Gly)617BCS1LPathogenic28937590RCV000006542; NMedGen:C1864002,OMIM:603358,ORPHA:536932219525942219525942NM_001257342.1:c.232A>GNP_001244271.1:p.Ser78GlyNC_000002.11:g.219525942A>GOMIM Allelic Variant:603647.0005C1864002 603358 GRACILE syndrome
NM_004328.4(BCS1L):c.320+1G>T617BCS1LLikely pathogenic386833856RCV000049825; NMedGen:C1864002,OMIM:603358,ORPHA:536932219526031219526031NM_004328.4:c.320+1G>TNC_000002.11:g.219526031G>T-C1864002 603358 GRACILE syndrome
NM_004328.4(BCS1L):c.431G>A (p.Arg144Gln)617BCS1LLikely pathogenic386833857RCV000049826; NMedGen:C1864002,OMIM:603358,ORPHA:536932219526239219526239NM_004328.4:c.431G>ANP_004319.1:p.Arg144GlnNC_000002.11:g.219526239G>A-C1864002 603358 GRACILE syndrome
NM_004328.4(BCS1L):c.980T>C (p.Val327Ala)617BCS1LLikely pathogenic386833858RCV000049827; NMedGen:C1864002,OMIM:603358,ORPHA:536932219527696219527696NM_004328.4:c.980T>CNP_004319.1:p.Val327AlaNC_000002.11:g.219527696T>C-C1864002 603358 GRACILE syndrome
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000074582 MSeqDR Search EnsemblBCS1L155BC1 (ubiquinol-cytochrome c reductase) synthesis-like [Source:HGNC Symbol;Acc:1020]00104

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