MCID: GRC001
MIFTS: 32

Gracile Syndrome

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

Aliases & Classifications for Gracile Syndrome

MalaCards integrated aliases for Gracile Syndrome:

Name: Gracile Syndrome 54 50 24 25 56 71 29 13 52 69
Finnish Lactic Acidosis with Hepatic Hemosiderosis 50 25
Finnish Lethal Neonatal Metabolic Syndrome 50 25
Fellman Syndrome 50 25
Growth Retardation, Amino Aciduria, Cholestasis, Iron Overload, Lactic Acidosis, and Early Death 25
Growth Restriction-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome 56
Growth Retardation, Aminoaciduria, Cholestasis, Iron Overload, Lactic Acidosis and Early Death 50
Growth Delay-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome 56
Fellman Disease 56
Gracile 71
Flnms 50

Characteristics:

Orphanet epidemiological data:

56
gracile syndrome
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile;

HPO:

32
gracile syndrome:
Mortality/Aging death in early adulthood


Classifications:



Summaries for Gracile Syndrome

NIH Rare Diseases : 50 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 lactic acidosis with hepatic hemosiderosis, is related to bjornstad syndrome and gracile bone dysplasia, and has symptoms including intrauterine growth retardation, lactic acidosis and cirrhosis. An important gene associated with Gracile Syndrome is BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone). Affiliated tissues include liver.

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.

Genetics Home Reference : 25 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.

Description from OMIM: 603358

Related Diseases for Gracile Syndrome

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

id Related Disease Score Top Affiliating Genes
1 bjornstad syndrome 30.5 BCS1L IMMT
2 gracile bone dysplasia 12.4
3 atransferrinemia 10.8
4 pulmonary hypertension, familial primary, 1, with or without hht 9.2 BCS1L IMMT

Symptoms & Phenotypes for Gracile Syndrome

Clinical features from OMIM:

603358

Human phenotypes related to Gracile Syndrome:

56 32 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intrauterine growth retardation 56 32 hallmark (90%) Very frequent (99-80%) HP:0001511
2 lactic acidosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0003128
3 cirrhosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001394
4 increased serum ferritin 56 32 hallmark (90%) Very frequent (99-80%) HP:0003281
5 hepatic steatosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001397
6 cholestasis 56 32 very rare (1%) Very frequent (99-80%) HP:0001396
7 hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000365
8 renal fanconi syndrome 56 32 hallmark (90%) Very frequent (99-80%) HP:0001994
9 decreased transferrin saturation 56 32 hallmark (90%) Very frequent (99-80%) HP:0012464
10 elevated hepatic iron concentration 56 32 hallmark (90%) Very frequent (99-80%) HP:0012465
11 aminoaciduria 32 very rare (1%) HP:0003355
12 neonatal hypotonia 32 very rare (1%) HP:0001319
13 increased serum iron 32 HP:0003452
14 increased serum pyruvate 32 HP:0003542
15 death in early adulthood 56 Frequent (79-30%)
16 chronic lactic acidosis 32 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:

id Genetic test Affiliating Genes
1 Gracile Syndrome 29 24 BCS1L

Anatomical Context for Gracile Syndrome

MalaCards organs/tissues related to Gracile Syndrome:

39
Liver

Publications for Gracile Syndrome

Articles related to Gracile Syndrome:

id 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
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. ( 12215968 )
2002
4
The GRACILE syndrome, a neonatal lethal metabolic disorder with iron overload. ( 12547234 )
2002

Variations for Gracile Syndrome

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

71
id 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 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 BCS1L NM_001257342.1(BCS1L): c.232A> G (p.Ser78Gly) single nucleotide variant Pathogenic rs28937590 GRCh37 Chromosome 2, 219525942: 219525942
2 BCS1L NM_004328.4(BCS1L): c.-50+155T> A single nucleotide variant Likely pathogenic rs386833855 GRCh37 Chromosome 2, 219525123: 219525123
3 BCS1L NM_004328.4(BCS1L): c.320+1G> T single nucleotide variant Likely pathogenic rs386833856 GRCh37 Chromosome 2, 219526031: 219526031
4 BCS1L NM_004328.4(BCS1L): c.431G> A (p.Arg144Gln) single nucleotide variant Likely pathogenic rs386833857 GRCh37 Chromosome 2, 219526239: 219526239
5 BCS1L NM_004328.4(BCS1L): c.980T> C (p.Val327Ala) single nucleotide variant Likely pathogenic rs386833858 GRCh37 Chromosome 2, 219527696: 219527696
6 BCS1L NM_004328.4(BCS1L): c.245C> A (p.Ser82Ter) single nucleotide variant Likely pathogenic rs749196764 GRCh37 Chromosome 2, 219525955: 219525955
7 BCS1L NM_004328.4(BCS1L): c.349C> T (p.Arg117Ter) single nucleotide variant Likely pathogenic rs777735526 GRCh37 Chromosome 2, 219526157: 219526157
8 BCS1L NM_004328.4(BCS1L): c.418delC (p.Leu140Trpfs) deletion Likely pathogenic rs1057517412 GRCh38 Chromosome 2, 218661503: 218661503
9 BCS1L NM_004328.4(BCS1L): c.460+2T> C single nucleotide variant Likely pathogenic rs1057516954 GRCh37 Chromosome 2, 219526270: 219526270
10 BCS1L NM_004328.4(BCS1L): c.556C> T (p.Arg186Ter) single nucleotide variant Likely pathogenic rs779331797 GRCh37 Chromosome 2, 219526577: 219526577
11 BCS1L NM_004328.4(BCS1L): c.607dupA (p.Arg203Lysfs) duplication Likely pathogenic rs1057516255 GRCh37 Chromosome 2, 219526628: 219526628
12 BCS1L NM_004328.4(BCS1L): c.655+1G> A single nucleotide variant Likely pathogenic rs1057516802 GRCh37 Chromosome 2, 219526677: 219526677
13 BCS1L NM_004328.4(BCS1L): c.889+1G> T single nucleotide variant Likely pathogenic rs1057516346 GRCh37 Chromosome 2, 219527403: 219527403
14 BCS1L NM_004328.4(BCS1L): c.973dupC (p.Arg325Profs) duplication Likely pathogenic rs1057516518 GRCh37 Chromosome 2, 219527689: 219527689
15 BCS1L NM_004328.4(BCS1L): c.1244_1245delAG (p.Glu415Valfs) deletion Likely pathogenic rs1057516786 GRCh37 Chromosome 2, 219528093: 219528094

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:

id 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
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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
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28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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