MCID: GRC001
MIFTS: 31

Gracile Syndrome

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Liver diseases

Aliases & Classifications for Gracile Syndrome

MalaCards integrated aliases for Gracile Syndrome:

Name: Gracile Syndrome 53 72 49 24 55 71 36 28 13 51 69
Finnish Lethal Neonatal Metabolic Syndrome 53 49 24
Fellman Syndrome 53 49 24
Growth Retardation, Amino Aciduria, Cholestasis, Iron Overload, Lactic Acidosis, and Early Death 53 24
Finnish Lactic Acidosis with Hepatic Hemosiderosis 49 24
Flnms 53 49
Growth Restriction-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome 55
Growth Retardation, Aminoaciduria, Cholestasis, Iron Overload, Lactic Acidosis and Early Death 49
Growth Delay-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome 55
Lactic Acidosis, Finnish, with Hepatic Hemosiderosis 53
Finnish Lethal Neonatal Metabolic Syndrome; Flnms 53
Fellman Disease 55
Gracile 71

Characteristics:

Orphanet epidemiological data:

55
gracile syndrome
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile;

HPO:

31
gracile syndrome:
Mortality/Aging death in early adulthood


Classifications:



External Ids:

OMIM 53 603358
Orphanet 55 ORPHA53693
MESH via Orphanet 42 C537934
UMLS via Orphanet 70 C1864002
ICD10 via Orphanet 33 E88.8
MedGen 39 C1864002
KEGG 36 H02007
UMLS 69 C1864002

Summaries for Gracile Syndrome

NIH Rare Diseases : 49 GRACILE syndrome is an inheritedmetabolic disease. GRACILE stands for growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death. Infants are very small at birth and quickly develop life-threatening complications. During the first days of life, infants will develop a buildup of lactic acid in the bloodstream (lactic acidosis) and amino acids in the urine (aminoaciduria). They will also have problems with the flow of bile from the liver (cholestasis) and too much iron in their blood. Affected individuals aren’t typically born with unique physical features. Although alkali therapy is used as treatment, about half of affected infants do not survive past the first days of life. Those that do survive this period generally do not live past 4 months despite receiving treatment. GRACILE syndrome is caused by a mutation in the BCS1L gene, and it is inherited in an autosomal recessive pattern. The BCS1L gene provides instructions needed by the mitochondria in cells to help produce energy. Last updated: 7/23/2012

MalaCards based summary : Gracile Syndrome, also known as finnish lethal neonatal metabolic syndrome, is related to gracile bone dysplasia and hydrops fetalis, nonimmune, with gracile bones and dysmorphic features, and has symptoms including hearing impairment, intrauterine growth retardation and hepatic steatosis. An important gene associated with Gracile Syndrome is BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone). Affiliated tissues include liver.

Genetics Home Reference : 24 GRACILE syndrome is a severe disorder that begins before birth. GRACILE stands for the condition's characteristic features: growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death.

UniProtKB/Swiss-Prot : 71 GRACILE syndrome: GRACILE stands for 'growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death'. It is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism.

Description from OMIM: 603358

Related Diseases for Gracile Syndrome

Diseases related to Gracile Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 gracile bone dysplasia 12.5
2 hydrops fetalis, nonimmune, with gracile bones and dysmorphic features 11.9
3 atransferrinemia 10.9
4 bjornstad syndrome 10.9
5 hemosiderosis 10.0

Graphical network of the top 20 diseases related to Gracile Syndrome:



Diseases related to Gracile Syndrome

Symptoms & Phenotypes for Gracile Syndrome

Clinical features from OMIM:

603358

Human phenotypes related to Gracile Syndrome:

55 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000365
2 intrauterine growth retardation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001511
3 hepatic steatosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001397
4 cirrhosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001394
5 lactic acidosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0003128
6 cholestasis 55 31 very rare (1%) Very frequent (99-80%) HP:0001396
7 increased serum ferritin 55 31 hallmark (90%) Very frequent (99-80%) HP:0003281
8 elevated hepatic iron concentration 55 31 hallmark (90%) Very frequent (99-80%) HP:0012465
9 renal fanconi syndrome 55 31 hallmark (90%) Very frequent (99-80%) HP:0001994
10 decreased transferrin saturation 55 31 hallmark (90%) Very frequent (99-80%) HP:0012464
11 neonatal hypotonia 31 very rare (1%) HP:0001319
12 aminoaciduria 31 very rare (1%) HP:0003355
13 death in early adulthood 55 Frequent (79-30%)
14 increased serum pyruvate 31 HP:0003542
15 increased serum iron 31 HP:0003452
16 chronic lactic acidosis 31 HP:0004925

Drugs & Therapeutics for Gracile Syndrome

Search Clinical Trials , NIH Clinical Center for Gracile Syndrome

Genetic Tests for Gracile Syndrome

Genetic tests related to Gracile Syndrome:

# Genetic test Affiliating Genes
1 Gracile Syndrome 28 BCS1L

Anatomical Context for Gracile Syndrome

MalaCards organs/tissues related to Gracile Syndrome:

38
Liver

Publications for Gracile Syndrome

Articles related to Gracile Syndrome:

# Title Authors Year
1
BCS1L gene mutation causing GRACILE syndrome: case report. ( 24655110 )
2014
2
Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation. ( 20580947 )
2010
3
The GRACILE syndrome, a neonatal lethal metabolic disorder with iron overload. ( 12547234 )
2002
4
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. ( 12215968 )
2002

Variations for Gracile Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Gracile Syndrome:

71
# Symbol AA change Variation ID SNP ID
1 BCS1L p.Ser78Gly VAR_018149 rs28937590
2 BCS1L p.Arg144Gln VAR_018160 rs386833857
3 BCS1L p.Val327Ala VAR_018163 rs386833858

ClinVar genetic disease variations for Gracile Syndrome:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 BCS1L NM_004328.4(BCS1L): c.-50+155T> A single nucleotide variant Likely pathogenic rs386833855 GRCh37 Chromosome 2, 219525123: 219525123
2 BCS1L NM_004328.4(BCS1L): c.320+1G> T single nucleotide variant Likely pathogenic rs386833856 GRCh37 Chromosome 2, 219526031: 219526031
3 BCS1L NM_004328.4(BCS1L): c.431G> A (p.Arg144Gln) single nucleotide variant Likely pathogenic rs386833857 GRCh37 Chromosome 2, 219526239: 219526239
4 BCS1L NM_004328.4(BCS1L): c.980T> C (p.Val327Ala) single nucleotide variant Likely pathogenic rs386833858 GRCh37 Chromosome 2, 219527696: 219527696
5 BCS1L NM_001257342.1(BCS1L): c.232A> G (p.Ser78Gly) single nucleotide variant Pathogenic rs28937590 GRCh37 Chromosome 2, 219525942: 219525942
6 BCS1L NM_004328.4(BCS1L): c.166C> T (p.Arg56Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908576 GRCh37 Chromosome 2, 219525876: 219525876
7 BCS1L NM_004328.4(BCS1L): c.245C> A (p.Ser82Ter) single nucleotide variant Likely pathogenic rs749196764 GRCh37 Chromosome 2, 219525955: 219525955
8 BCS1L NM_004328.4(BCS1L): c.349C> T (p.Arg117Ter) single nucleotide variant Likely pathogenic rs777735526 GRCh37 Chromosome 2, 219526157: 219526157
9 BCS1L NM_004328.4(BCS1L): c.418delC (p.Leu140Trpfs) deletion Likely pathogenic rs1057517412 GRCh38 Chromosome 2, 218661503: 218661503
10 BCS1L NM_004328.4(BCS1L): c.460+2T> C single nucleotide variant Likely pathogenic rs1057516954 GRCh37 Chromosome 2, 219526270: 219526270
11 BCS1L NM_004328.4(BCS1L): c.556C> T (p.Arg186Ter) single nucleotide variant Likely pathogenic rs779331797 GRCh37 Chromosome 2, 219526577: 219526577
12 BCS1L NM_004328.4(BCS1L): c.607dupA (p.Arg203Lysfs) duplication Likely pathogenic rs1057516255 GRCh37 Chromosome 2, 219526628: 219526628
13 BCS1L NM_004328.4(BCS1L): c.655+1G> A single nucleotide variant Likely pathogenic rs1057516802 GRCh38 Chromosome 2, 218661954: 218661954
14 BCS1L NM_004328.4(BCS1L): c.889+1G> T single nucleotide variant Pathogenic/Likely pathogenic rs1057516346 GRCh38 Chromosome 2, 218662680: 218662680
15 BCS1L NM_004328.4(BCS1L): c.973dupC (p.Arg325Profs) duplication Likely pathogenic rs1057516518 GRCh38 Chromosome 2, 218662966: 218662966
16 BCS1L NM_004328.4(BCS1L): c.1244_1245delAG (p.Glu415Valfs) deletion Likely pathogenic rs1057516786 GRCh38 Chromosome 2, 218663370: 218663371

Expression for Gracile Syndrome

Search GEO for disease gene expression data for Gracile Syndrome.

Pathways for Gracile Syndrome

GO Terms for Gracile Syndrome

Cellular components related to Gracile Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.96 BCS1L IMMT
2 mitochondrial inner membrane GO:0005743 8.62 BCS1L IMMT

Sources for Gracile Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
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47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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