GRACILE
MCID: GRC001
MIFTS: 33

Gracile Syndrome (GRACILE)

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

Aliases & Classifications for Gracile Syndrome

MalaCards integrated aliases for Gracile Syndrome:

Name: Gracile Syndrome 58 77 54 26 60 76 38 30 13 56 6 41 74
Finnish Lethal Neonatal Metabolic Syndrome 58 54 26
Fellman Syndrome 58 54 26
Growth Retardation, Amino Aciduria, Cholestasis, Iron Overload, Lactic Acidosis, and Early Death 58 26
Finnish Lactic Acidosis with Hepatic Hemosiderosis 54 26
Flnms 58 54
Growth Restriction-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome 60
Growth Retardation, Aminoaciduria, Cholestasis, Iron Overload, Lactic Acidosis and Early Death 54
Growth Delay-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome 60
Lactic Acidosis, Finnish, with Hepatic Hemosiderosis 58
Finnish Lethal Neonatal Metabolic Syndrome; Flnms 58
Fellman Disease 60
Gracile 76

Characteristics:

Orphanet epidemiological data:

60
gracile syndrome
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile;

HPO:

33
gracile syndrome:
Clinical modifier death in early adulthood


Classifications:



External Ids:

OMIM 58 603358
KEGG 38 H02007
MESH via Orphanet 46 C537934
ICD10 via Orphanet 35 E88.8
UMLS via Orphanet 75 C1864002
Orphanet 60 ORPHA53693
MedGen 43 C1864002
UMLS 74 C1864002

Summaries for Gracile Syndrome

NIH Rare Diseases : 54 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.

MalaCards based summary : Gracile Syndrome, also known as finnish lethal neonatal metabolic syndrome, is related to bjornstad syndrome and gracile bone dysplasia. An important gene associated with Gracile Syndrome is BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone). Affiliated tissues include liver and bone, and related phenotypes are hearing impairment and intrauterine growth retardation

Genetics Home Reference : 26 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 : 76 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.

Wikipedia : 77 GRACILE syndrome is a very rare lethal autosomal recessive genetic disorder, one of the Finnish heritage... more...

Description from OMIM: 603358

Related Diseases for Gracile Syndrome

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



Diseases related to Gracile Syndrome

Symptoms & Phenotypes for Gracile Syndrome

Human phenotypes related to Gracile Syndrome:

60 33 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000365
2 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
3 hepatic steatosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001397
4 cirrhosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001394
5 lactic acidosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0003128
6 cholestasis 60 33 very rare (1%) Very frequent (99-80%) HP:0001396
7 increased serum ferritin 60 33 hallmark (90%) Very frequent (99-80%) HP:0003281
8 renal fanconi syndrome 60 33 hallmark (90%) Very frequent (99-80%) HP:0001994
9 elevated hepatic iron concentration 60 33 hallmark (90%) Very frequent (99-80%) HP:0012465
10 decreased transferrin saturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0012464
11 neonatal hypotonia 33 very rare (1%) HP:0001319
12 aminoaciduria 33 very rare (1%) HP:0003355
13 death in early adulthood 60 Frequent (79-30%)
14 increased serum pyruvate 33 HP:0003542
15 increased serum iron 33 HP:0003452
16 chronic lactic acidosis 33 HP:0004925

Clinical features from OMIM:

603358

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 30 BCS1L

Anatomical Context for Gracile Syndrome

MalaCards organs/tissues related to Gracile Syndrome:

42
Liver, Bone

Publications for Gracile Syndrome

Articles related to Gracile Syndrome:

# Title Authors Year
1
A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION. ( 30226971 )
2016
2
BCS1L gene mutation causing GRACILE syndrome: case report. ( 24655110 )
2014
3
Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation. ( 20580947 )
2010
4
The GRACILE syndrome, a neonatal lethal metabolic disorder with iron overload. ( 12547234 )
2002
5
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. ( 12215968 )
2002
6
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. ( 11528392 )
2001

Variations for Gracile Syndrome

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

76
# 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 top 50) (show all 122)
# Gene Variation Type Significance SNP ID Assembly Location
1 BCS1L NM_004328.4(BCS1L): c.296C> T (p.Pro99Leu) single nucleotide variant Likely pathogenic rs121908572 GRCh37 Chromosome 2, 219526006: 219526006
2 BCS1L NM_004328.4(BCS1L): c.296C> T (p.Pro99Leu) single nucleotide variant Likely pathogenic rs121908572 GRCh38 Chromosome 2, 218661283: 218661283
3 BCS1L NM_001257342.1(BCS1L): c.232A> G (p.Ser78Gly) single nucleotide variant Pathogenic rs28937590 GRCh37 Chromosome 2, 219525942: 219525942
4 BCS1L NM_001257342.1(BCS1L): c.232A> G (p.Ser78Gly) single nucleotide variant Pathogenic rs28937590 GRCh38 Chromosome 2, 218661219: 218661219
5 BCS1L NM_004328.4(BCS1L): c.166C> T (p.Arg56Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908576 GRCh37 Chromosome 2, 219525876: 219525876
6 BCS1L NM_004328.4(BCS1L): c.166C> T (p.Arg56Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908576 GRCh38 Chromosome 2, 218661153: 218661153
7 BCS1L NM_004328.4(BCS1L): c.547C> T (p.Arg183Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs144885874 GRCh37 Chromosome 2, 219526568: 219526568
8 BCS1L NM_004328.4(BCS1L): c.547C> T (p.Arg183Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs144885874 GRCh38 Chromosome 2, 218661845: 218661845
9 BCS1L NM_004328.4(BCS1L): c.-50+155T> A single nucleotide variant Uncertain significance rs386833855 GRCh37 Chromosome 2, 219525123: 219525123
10 BCS1L NM_004328.4(BCS1L): c.-50+155T> A single nucleotide variant Uncertain significance rs386833855 GRCh38 Chromosome 2, 218660400: 218660400
11 BCS1L NM_004328.4(BCS1L): c.320+1G> T single nucleotide variant Likely pathogenic rs386833856 GRCh37 Chromosome 2, 219526031: 219526031
12 BCS1L NM_004328.4(BCS1L): c.320+1G> T single nucleotide variant Likely pathogenic rs386833856 GRCh38 Chromosome 2, 218661308: 218661308
13 BCS1L NM_004328.4(BCS1L): c.431G> A (p.Arg144Gln) single nucleotide variant Likely pathogenic rs386833857 GRCh37 Chromosome 2, 219526239: 219526239
14 BCS1L NM_004328.4(BCS1L): c.431G> A (p.Arg144Gln) single nucleotide variant Likely pathogenic rs386833857 GRCh38 Chromosome 2, 218661516: 218661516
15 BCS1L NM_004328.4(BCS1L): c.980T> C (p.Val327Ala) single nucleotide variant Likely pathogenic rs386833858 GRCh37 Chromosome 2, 219527696: 219527696
16 BCS1L NM_004328.4(BCS1L): c.980T> C (p.Val327Ala) single nucleotide variant Likely pathogenic rs386833858 GRCh38 Chromosome 2, 218662973: 218662973
17 BCS1L NM_004328.4(BCS1L): c.628G> A (p.Asp210Asn) single nucleotide variant Benign/Likely benign rs58447305 GRCh37 Chromosome 2, 219526649: 219526649
18 BCS1L NM_004328.4(BCS1L): c.628G> A (p.Asp210Asn) single nucleotide variant Benign/Likely benign rs58447305 GRCh38 Chromosome 2, 218661926: 218661926
19 BCS1L NM_004328.4(BCS1L): c.996C> T (p.Asn332=) single nucleotide variant Benign/Likely benign rs33946522 GRCh37 Chromosome 2, 219527712: 219527712
20 BCS1L NM_004328.4(BCS1L): c.996C> T (p.Asn332=) single nucleotide variant Benign/Likely benign rs33946522 GRCh38 Chromosome 2, 218662989: 218662989
21 BCS1L NM_004328.4(BCS1L): c.1017T> C (p.Pro339=) single nucleotide variant Benign/Likely benign rs35843327 GRCh37 Chromosome 2, 219527866: 219527866
22 BCS1L NM_004328.4(BCS1L): c.1017T> C (p.Pro339=) single nucleotide variant Benign/Likely benign rs35843327 GRCh38 Chromosome 2, 218663143: 218663143
23 BCS1L NM_004328.4(BCS1L): c.-43G> A single nucleotide variant Conflicting interpretations of pathogenicity rs145989550 GRCh37 Chromosome 2, 219525668: 219525668
24 BCS1L NM_004328.4(BCS1L): c.-43G> A single nucleotide variant Conflicting interpretations of pathogenicity rs145989550 GRCh38 Chromosome 2, 218660945: 218660945
25 BCS1L NM_004328.4(BCS1L): c.205C> T (p.Arg69Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs377025174 GRCh37 Chromosome 2, 219525915: 219525915
26 BCS1L NM_004328.4(BCS1L): c.205C> T (p.Arg69Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs377025174 GRCh38 Chromosome 2, 218661192: 218661192
27 BCS1L NM_004328.4(BCS1L): c.269G> A (p.Arg90His) single nucleotide variant Conflicting interpretations of pathogenicity rs747956412 GRCh37 Chromosome 2, 219525979: 219525979
28 BCS1L NM_004328.4(BCS1L): c.269G> A (p.Arg90His) single nucleotide variant Conflicting interpretations of pathogenicity rs747956412 GRCh38 Chromosome 2, 218661256: 218661256
29 BCS1L NM_004328.4(BCS1L): c.871C> T (p.Arg291Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs201454788 GRCh37 Chromosome 2, 219527384: 219527384
30 BCS1L NM_004328.4(BCS1L): c.871C> T (p.Arg291Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs201454788 GRCh38 Chromosome 2, 218662661: 218662661
31 BCS1L NM_004328.4(BCS1L): c.703G> A (p.Gly235Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs368486097 GRCh37 Chromosome 2, 219526967: 219526967
32 BCS1L NM_004328.4(BCS1L): c.703G> A (p.Gly235Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs368486097 GRCh38 Chromosome 2, 218662244: 218662244
33 BCS1L NM_004328.4(BCS1L): c.201C> T (p.Leu67=) single nucleotide variant Uncertain significance rs142540289 GRCh37 Chromosome 2, 219525911: 219525911
34 BCS1L NM_004328.4(BCS1L): c.201C> T (p.Leu67=) single nucleotide variant Uncertain significance rs142540289 GRCh38 Chromosome 2, 218661188: 218661188
35 BCS1L NM_004328.4(BCS1L): c.321-12G> A single nucleotide variant Uncertain significance rs776363896 GRCh38 Chromosome 2, 218661394: 218661394
36 BCS1L NM_004328.4(BCS1L): c.321-12G> A single nucleotide variant Uncertain significance rs776363896 GRCh37 Chromosome 2, 219526117: 219526117
37 BCS1L NM_004328.4(BCS1L): c.-262G> T single nucleotide variant Uncertain significance rs886055624 GRCh38 Chromosome 2, 218659740: 218659740
38 BCS1L NM_004328.4(BCS1L): c.-262G> T single nucleotide variant Uncertain significance rs886055624 GRCh37 Chromosome 2, 219524463: 219524463
39 BCS1L NM_004328.4(BCS1L): c.-94T> G single nucleotide variant Uncertain significance rs188224298 GRCh38 Chromosome 2, 218660201: 218660201
40 BCS1L NM_004328.4(BCS1L): c.-94T> G single nucleotide variant Uncertain significance rs188224298 GRCh37 Chromosome 2, 219524924: 219524924
41 BCS1L NM_004328.4(BCS1L): c.258T> C (p.His86=) single nucleotide variant Uncertain significance rs886055627 GRCh38 Chromosome 2, 218661245: 218661245
42 BCS1L NM_004328.4(BCS1L): c.258T> C (p.His86=) single nucleotide variant Uncertain significance rs886055627 GRCh37 Chromosome 2, 219525968: 219525968
43 BCS1L NM_004328.4(BCS1L): c.-14G> A single nucleotide variant Conflicting interpretations of pathogenicity rs367721351 GRCh38 Chromosome 2, 218660974: 218660974
44 BCS1L NM_004328.4(BCS1L): c.-14G> A single nucleotide variant Conflicting interpretations of pathogenicity rs367721351 GRCh37 Chromosome 2, 219525697: 219525697
45 BCS1L NM_004328.4(BCS1L): c.112C> G (p.Leu38Val) single nucleotide variant Uncertain significance rs886055626 GRCh38 Chromosome 2, 218661099: 218661099
46 BCS1L NM_004328.4(BCS1L): c.112C> G (p.Leu38Val) single nucleotide variant Uncertain significance rs886055626 GRCh37 Chromosome 2, 219525822: 219525822
47 BCS1L NM_004328.4(BCS1L): c.768C> G (p.Leu256=) single nucleotide variant Uncertain significance rs781666793 GRCh38 Chromosome 2, 218662558: 218662558
48 BCS1L NM_004328.4(BCS1L): c.768C> G (p.Leu256=) single nucleotide variant Uncertain significance rs781666793 GRCh37 Chromosome 2, 219527281: 219527281
49 BCS1L NM_004328.4(BCS1L): c.-127T> C single nucleotide variant Uncertain significance rs886055625 GRCh38 Chromosome 2, 218660168: 218660168
50 BCS1L NM_004328.4(BCS1L): c.-127T> C single nucleotide variant Uncertain significance rs886055625 GRCh37 Chromosome 2, 219524891: 219524891

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 mitochondrial inner membrane GO:0005743 8.62 BCS1L IMMT

Sources for Gracile Syndrome

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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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