GRACILE
MCID: GRC001
MIFTS: 48

Gracile Syndrome (GRACILE)

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

Aliases & Classifications for Gracile Syndrome

MalaCards integrated aliases for Gracile Syndrome:

Name: Gracile Syndrome 57 12 73 20 43 58 72 36 29 13 54 6 15 39 70
Finnish Lethal Neonatal Metabolic Syndrome 57 12 20 43 44
Growth Retardation, Amino Aciduria, Cholestasis, Iron Overload, Lactic Acidosis, and Early Death 57 12 43
Growth Restriction-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome 12 20 58
Finnish Lactic Acidosis with Hepatic Hemosiderosis 12 20 43
Fellman Syndrome 57 20 43
Fellman Disease 12 20 58
Flnms 57 12 20
Growth Delay-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome 12 20
Growth Retardation, Aminoaciduria, Cholestasis, Iron Overload, Lactic Acidosis and Early Death 20
Lactic Acidosis, Finnish, with Hepatic Hemosiderosis 57
Finnish Lethal Neonatal Metabolic Syndrome; Flnms 57
Gracile 72

Characteristics:

Orphanet epidemiological data:

58
gracile syndrome
Inheritance: Autosomal recessive; Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
death in early infancy
gracile - growth retardation, aminoaciduria, cholestasis, iron overload, lacticacidosis, and early death


HPO:

31
gracile syndrome:
Onset and clinical course death in early adulthood
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111455
OMIM® 57 603358
KEGG 36 H02007
MeSH 44 C537934
SNOMED-CT 67 703388005
MESH via Orphanet 45 C537934
ICD10 via Orphanet 33 E88.8
UMLS via Orphanet 71 C1864002
Orphanet 58 ORPHA53693
MedGen 41 C1864002
UMLS 70 C1864002

Summaries for Gracile Syndrome

MedlinePlus Genetics : 43 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.In GRACILE syndrome, growth before birth is slow (intrauterine growth retardation). Affected newborns are smaller than average and have an inability to grow and gain weight at the expected rate (failure to thrive). A characteristic of GRACILE syndrome is excess iron in the liver, which likely begins before birth. Iron levels may begin to improve after birth, although they typically remain elevated. Within the first day of life, infants with GRACILE syndrome have a buildup of a chemical called lactic acid in the body (lactic acidosis). They also have kidney problems that lead to an excess of molecules called amino acids in the urine (aminoaciduria). Babies with GRACILE syndrome have cholestasis, which is a reduced ability to produce and release a digestive fluid called bile. Cholestasis leads to irreversible liver disease (cirrhosis) in the first few months of life.Because of the severe health problems caused by GRACILE syndrome, infants with this condition do not survive for more than a few months, and about half die within a few days of birth.

MalaCards based summary : Gracile Syndrome, also known as finnish lethal neonatal metabolic syndrome, is related to bjornstad syndrome and mitochondrial complex iii deficiency, nuclear type 1. An important gene associated with Gracile Syndrome is BCS1L (BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include liver, bone and pancreas, and related phenotypes are hearing impairment and intrauterine growth retardation

Disease Ontology : 12 A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has material basis in homozygous or compound heterozygous mutation in BCS1L on chromosome 2q35.

GARD : 20 GRACILE syndrome is an inherited metabolic 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.

KEGG : 36 GRACILE (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death) syndrome is a rare autosomal recessive disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism. It has been described mostly in newborn infants with parents of Finnish origin. It is caused by mutations in BCS1L. The BCS1L gene encodes a chaperone responsible for assembly of mitochondrial respiratory chain complex III.

UniProtKB/Swiss-Prot : 72 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 : 73 GRACILE syndrome is a very rare lethal autosomal recessive genetic disorder, one of the Finnish heritage... more...

More information from OMIM: 603358

Related Diseases for Gracile Syndrome

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

(show top 50) (show all 107)
# Related Disease Score Top Affiliating Genes
1 bjornstad syndrome 31.6 UQCRB BCS1L
2 mitochondrial complex iii deficiency, nuclear type 1 29.5 UQCRQ UQCRB TTC19 BCS1L
3 lactic acidosis 29.3 UQCRFS1 UQCRC2 UQCRB UQCC2 MT-CYB LYRM7
4 mitochondrial disorders 29.1 SCO1 DGUOK BCS1L
5 mitochondrial complex iii deficiency 28.0 UQCRQ UQCRFS1 UQCRC2 UQCRB UQCC2 TTC19
6 gracile bone dysplasia 11.7
7 spondyloepimetaphyseal dysplasia with joint laxity, type 3 11.1
8 atransferrinemia 11.0
9 hydrops fetalis, nonimmune, with gracile bones and dysmorphism 11.0
10 hemosiderosis 10.2
11 cholestasis 10.2
12 aminoaciduria 10.2
13 rare hereditary hemochromatosis 10.2
14 combined oxidative phosphorylation deficiency 4 10.2 TTC19 LYRM7
15 infantile cerebellar-retinal degeneration 10.2 TTC19 LYRM7
16 neuroaxonal dystrophy 10.2
17 cholera 10.1
18 mitochondrial dna depletion syndrome 1 10.1 UQCC2 MPV17
19 osteochondrodysplasia 10.1
20 mitochondrial dna depletion syndrome 11 10.1 UQCC2 MPV17
21 myoclonic epilepsy associated with ragged-red fibers 10.1 MT-CYB CYC1 BCS1L
22 mitochondrial dna depletion syndrome 2 10.0 UQCC2 DGUOK
23 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 10.0 UQCRB MT-CYB
24 autosomal recessive disease 10.0
25 hypoglycemia 10.0
26 ataxia and polyneuropathy, adult-onset 10.0
27 mitochondrial dna maintenance defects 10.0 MPV17 DGUOK
28 craniosynostosis 1 9.9
29 cystic fibrosis 9.9
30 spastic paraplegia 79, autosomal recessive 9.9
31 microcephaly 9.9
32 biliary atresia 9.9
33 sensory peripheral neuropathy 9.9
34 dwarfism 9.9
35 tremor 9.9
36 mitochondrial dna depletion syndrome 7 9.9 MPV17 DGUOK
37 mitochondrial encephalomyopathy 9.9 MT-CYB DGUOK BCS1L
38 mitochondrial dna depletion syndrome 6 9.9 MPV17 IMMT DGUOK
39 mitochondrial dna depletion syndrome 9.9 MPV17 IMMT DGUOK
40 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 9.9 MPV17 IMMT DGUOK
41 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 9.9 MPV17 IMMT DGUOK
42 mitochondrial dna depletion syndrome 3 9.9 MPV17 DGUOK
43 mitochondrial complex v deficiency, mitochondrial type 1 9.9 UQCRQ UQCC2 TTC19 LYRM7
44 combined oxidative phosphorylation deficiency 22 9.9 UQCRQ UQCC2 TTC19 LYRM7
45 mitochondrial dna depletion syndrome 5 9.9 UQCRFS1 MPV17 DGUOK
46 pili torti, early-onset 9.9
47 abdominal obesity-metabolic syndrome 1 9.9
48 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
49 sensorineural hearing loss 9.9
50 pili torti 9.9

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:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
2 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
3 hepatic steatosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001397
4 cirrhosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001394
5 cholestasis 58 31 very rare (1%) Very frequent (99-80%) HP:0001396
6 lactic acidosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003128
7 elevated hepatic iron concentration 58 31 hallmark (90%) Very frequent (99-80%) HP:0012465
8 renal fanconi syndrome 58 31 hallmark (90%) Very frequent (99-80%) HP:0001994
9 decreased transferrin saturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0012464
10 increased circulating ferritin concentration 31 hallmark (90%) HP:0003281
11 neonatal hypotonia 31 very rare (1%) HP:0001319
12 aminoaciduria 31 very rare (1%) HP:0003355
13 death in early adulthood 58 Frequent (79-30%)
14 increased serum pyruvate 31 HP:0003542
15 increased serum ferritin 58 Very frequent (99-80%)
16 increased serum iron 31 HP:0003452
17 chronic lactic acidosis 31 HP:0004925

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Laboratory Abnormalities:
aminoaciduria
lactic acidosis
high serum ferritin
low serum iron
high transferrin saturation

Neurologic Central Nervous System:
seizures (in 1 patient)
hypotonia (in some patients)

Growth Weight:
low birth weight (range 1310-2020g)

Abdomen Liver:
cholestasis
hemosiderosis of the liver
high liver iron content

Growth Height:
birth length less than 48 cm (range 40-48cm)

Head And Neck Head:
head circumference less than 32 cm (range 30-32cm)

Clinical features from OMIM®:

603358 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Gracile Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 9.1 CYC1 DGUOK UQCRB UQCRC2 UQCRFS1 UQCRQ

Drugs & Therapeutics for Gracile Syndrome

Search Clinical Trials , NIH Clinical Center for Gracile Syndrome

Cochrane evidence based reviews: finnish lethal neonatal metabolic syndrome

Genetic Tests for Gracile Syndrome

Genetic tests related to Gracile Syndrome:

# Genetic test Affiliating Genes
1 Gracile Syndrome 29 BCS1L

Anatomical Context for Gracile Syndrome

MalaCards organs/tissues related to Gracile Syndrome:

40
Liver, Bone, Pancreas

Publications for Gracile Syndrome

Articles related to Gracile Syndrome:

(show all 44)
# Title Authors PMID Year
1
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. 54 6 57 61
12215968 2002
2
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. 6 57
11528392 2001
3
Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome. 61 54 6
17314340 2007
4
BCS1L gene mutation causing GRACILE syndrome: case report. 61 6
24655110 2014
5
BCS1L gene mutation presenting with GRACILE-like syndrome and complex III deficiency. 61 6
22277166 2012
6
The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy. 61 6
21274865 2011
7
Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency. 61 6
20518024 2010
8
ABCB6 (MTABC3) excluded as the causative gene for the growth retardation syndrome with aminoaciduria, cholestasis, iron overload, and lactacidosis. 57 61
11977179 2002
9
Novel heterozygous deletion mutation c.821delC in the AAA domain of BCS1L underlies Björnstad syndrome. 6
28105683 2017
10
Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. 6
26489029 2016
11
Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis. 6
25895478 2015
12
Nuclear gene mutations as the cause of mitochondrial complex III deficiency. 6
25914718 2015
13
A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene. 6
24236502 2014
14
Severe renal tubulopathy in a newborn due to BCS1L gene mutation: effects of different treatment modalities on the clinical course. 6
23892085 2013
15
Functional analysis of yeast bcs1 mutants highlights the role of Bcs1p-specific amino acids in the AAA domain. 6
19285991 2009
16
Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene. 6
12910490 2003
17
Mitochondrial ABC transporters. 57
11421280 2001
18
MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis. 57
10837493 2000
19
Exogenous apotransferrin and exchange transfusions in hereditary iron overload disease. 57
10654962 2000
20
Assignment of the locus for a new lethal neonatal metabolic syndrome to 2q33-37. 57
9792866 1998
21
Iron-overload disease in infants involving fetal growth retardation, lactic acidosis, liver haemosiderosis, and aminoaciduria. 57
9482441 1998
22
Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain. 57
7577396 1995
23
Disease gene mapping in isolated human populations: the example of Finland. 57
8230163 1993
24
Hereditary diseases in Finland; rare flora in rare soul. 57
4584134 1973
25
Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause. 61 54
18386115 2008
26
Fasting reveals largely intact systemic lipid mobilization mechanisms in respiratory chain complex III deficient mice. 61
31672551 2020
27
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease. 61
31435670 2019
28
Impaired Mitochondrial ATP Production Downregulates Wnt Signaling via ER Stress Induction. 61
31433973 2019
29
Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships. 61
30582773 2019
30
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings. 61
28322498 2017
31
Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model. 61
28427446 2017
32
Effect of High-Carbohydrate Diet on Plasma Metabolome in Mice with Mitochondrial Respiratory Chain Complex III Deficiency. 61
27809283 2016
33
A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly. 61
26563427 2016
34
A Turkish BCS1L mutation causes GRACILE-like disorder. 61
29090881 2016
35
A NEONATE PRESENTING WITH GRACILE SYNDROME AND BJORNSTAD PHENOTYPE ASSOCIATED WITH BCS1L MUTATION. 61
30226971 2016
36
Clinical and biochemical features associated with BCS1L mutation. 61
22991165 2013
37
[GRACILE syndrome--a severe neonatal mitochondrial disorder]. 61
22970607 2012
38
Metabolite profiles reveal energy failure and impaired beta-oxidation in liver of mice with complex III deficiency due to a BCS1L mutation. 61
22829922 2012
39
Mitochondrial hepatopathies in the newborn period. 61
21680270 2011
40
Metabolic disorders of fetal life: glycogenoses and mitochondrial defects of the mitochondrial respiratory chain. 61
21620786 2011
41
Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation. 61
20580947 2010
42
[Genetics of hereditary iron overload]. 61
15506716 2004
43
The GRACILE syndrome, a neonatal lethal metabolic disorder with iron overload. 61
12547234 2002
44
Antenatal diagnosis of hereditary fetal growth retardation with aminoaciduria, cholestasis, iron overload, and lactic acidosis in the newborn infant. 61
12027811 2002

Variations for Gracile Syndrome

ClinVar genetic disease variations for Gracile Syndrome:

6 (show top 50) (show all 78)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BCS1L NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly) SNV Pathogenic 6167 rs28937590 GRCh37: 2:219525942-219525942
GRCh38: 2:218661219-218661219
2 BCS1L NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly) SNV Pathogenic 6167 rs28937590 GRCh37: 2:219525942-219525942
GRCh38: 2:218661219-218661219
3 BCS1L NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) SNV Pathogenic 6169 rs121908576 GRCh37: 2:219525876-219525876
GRCh38: 2:218661153-218661153
4 BCS1L NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) SNV Pathogenic 6169 rs121908576 GRCh37: 2:219525876-219525876
GRCh38: 2:218661153-218661153
5 BCS1L NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter) SNV Pathogenic/Likely pathogenic 214162 rs201454788 GRCh37: 2:219527384-219527384
GRCh38: 2:218662661-218662661
6 BCS1L NM_001079866.2(BCS1L):c.320+1G>T SNV Likely pathogenic 56412 rs386833856 GRCh37: 2:219526031-219526031
GRCh38: 2:218661308-218661308
7 BCS1L NM_001079866.2(BCS1L):c.889+1G>T SNV Likely pathogenic 370247 rs1057516346 GRCh37: 2:219527403-219527403
GRCh38: 2:218662680-218662680
8 BCS1L NM_001079866.2(BCS1L):c.245C>A (p.Ser82Ter) SNV Likely pathogenic 371015 rs749196764 GRCh37: 2:219525955-219525955
GRCh38: 2:218661232-218661232
9 BCS1L NM_001079866.2(BCS1L):c.349C>T (p.Arg117Ter) SNV Likely pathogenic 370387 rs777735526 GRCh37: 2:219526157-219526157
GRCh38: 2:218661434-218661434
10 BCS1L NM_001079866.2(BCS1L):c.431G>A (p.Arg144Gln) SNV Likely pathogenic 56413 rs386833857 GRCh37: 2:219526239-219526239
GRCh38: 2:218661516-218661516
11 BCS1L NM_001079866.2(BCS1L):c.980T>C (p.Val327Ala) SNV Likely pathogenic 56414 rs386833858 GRCh37: 2:219527696-219527696
GRCh38: 2:218662973-218662973
12 BCS1L NM_001079866.2(BCS1L):c.418del (p.Leu140fs) Deletion Likely pathogenic 371616 rs1057517412 GRCh37: 2:219526224-219526224
GRCh38: 2:218661501-218661501
13 BCS1L NM_001079866.2(BCS1L):c.556C>T (p.Arg186Ter) SNV Likely pathogenic 371250 rs779331797 GRCh37: 2:219526577-219526577
GRCh38: 2:218661854-218661854
14 BCS1L NM_001079866.2(BCS1L):c.460+2T>C SNV Likely pathogenic 371035 rs1057516954 GRCh37: 2:219526270-219526270
GRCh38: 2:218661547-218661547
15 BCS1L NM_001079866.2(BCS1L):c.607dup (p.Arg203fs) Duplication Likely pathogenic 370128 rs1057516255 GRCh37: 2:219526627-219526628
GRCh38: 2:218661904-218661905
16 BCS1L NM_001079866.2(BCS1L):c.655+1G>A SNV Likely pathogenic 370831 rs1057516802 GRCh37: 2:219526677-219526677
GRCh38: 2:218661954-218661954
17 BCS1L NM_001079866.2(BCS1L):c.1244_1245del (p.Glu415fs) Deletion Likely pathogenic 370811 rs1057516786 GRCh37: 2:219528092-219528093
GRCh38: 2:218663369-218663370
18 BCS1L NM_001079866.2(BCS1L):c.973dup (p.Arg325fs) Duplication Likely pathogenic 370478 rs1057516518 GRCh37: 2:219527686-219527687
GRCh38: 2:218662963-218662964
19 BCS1L NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu) SNV Likely pathogenic 6164 rs121908572 GRCh37: 2:219526006-219526006
GRCh38: 2:218661283-218661283
20 BCS1L NM_001079866.2(BCS1L):c.889+1G>A SNV Likely pathogenic 550817 rs1057516346 GRCh37: 2:219527403-219527403
GRCh38: 2:218662680-218662680
21 BCS1L NM_001079866.2(BCS1L):c.1007+2_1007+5del Deletion Likely pathogenic 550864 rs1553597934 GRCh37: 2:219527722-219527725
GRCh38: 2:218662999-218663002
22 BCS1L NM_001079866.2(BCS1L):c.1036C>T (p.Arg346Ter) SNV Likely pathogenic 554448 rs550497120 GRCh37: 2:219527885-219527885
GRCh38: 2:218663162-218663162
23 BCS1L NM_001079866.2(BCS1L):c.53del (p.Ala18fs) Deletion Likely pathogenic 554718 rs1553595997 GRCh37: 2:219525763-219525763
GRCh38: 2:218661040-218661040
24 BCS1L NM_001079866.2(BCS1L):c.772del (p.Asp258fs) Deletion Likely pathogenic 554756 rs1363475546 GRCh37: 2:219527284-219527284
GRCh38: 2:218662561-218662561
25 BCS1L NM_001079866.2(BCS1L):c.821del (p.Pro274fs) Deletion Likely pathogenic 555982 rs760559534 GRCh37: 2:219527331-219527331
GRCh38: 2:218662608-218662608
26 BCS1L NM_001079866.2(BCS1L):c.1127T>A (p.Leu376Ter) SNV Likely pathogenic 558216 rs1553598145 GRCh37: 2:219527976-219527976
GRCh38: 2:218663253-218663253
27 BCS1L NM_001079866.2(BCS1L):c.472del (p.Ala158fs) Deletion Likely pathogenic 558346 rs1553596929 GRCh37: 2:219526493-219526493
GRCh38: 2:218661770-218661770
28 BCS1L NM_001079866.2(BCS1L):c.534del (p.Phe179fs) Deletion Likely pathogenic 558347 rs1553596996 GRCh37: 2:219526553-219526553
GRCh38: 2:218661830-218661830
29 BCS1L NM_001079866.2(BCS1L):c.-50+388C>G SNV Likely pathogenic 801896 rs1006907254 GRCh37: 2:219524854-219524854
GRCh38: 2:218660131-218660131
30 BCS1L NM_001079866.2(BCS1L):c.460+1G>A SNV Likely pathogenic 557129 rs1553596761 GRCh37: 2:219526269-219526269
GRCh38: 2:218661546-218661546
31 BCS1L NM_001079866.2(BCS1L):c.372dup (p.Asp125fs) Duplication Likely pathogenic 557160 rs1553596638 GRCh37: 2:219526179-219526180
GRCh38: 2:218661456-218661457
32 BCS1L NM_001079866.2(BCS1L):c.-50+405A>G SNV Conflicting interpretations of pathogenicity 553134 rs898301590 GRCh37: 2:219524871-219524871
GRCh38: 2:218660148-218660148
33 BCS1L NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys) SNV Uncertain significance 6171 rs121908578 GRCh37: 2:219526571-219526571
GRCh38: 2:218661848-218661848
34 BCS1L NM_001079866.2(BCS1L):c.1000G>A (p.Val334Ile) SNV Uncertain significance 666656 rs146731467 GRCh37: 2:219527716-219527716
GRCh38: 2:218662993-218662993
35 BCS1L NM_001079866.2(BCS1L):c.-53G>T SNV Uncertain significance 334352 rs886055624 GRCh37: 2:219524463-219524463
GRCh38: 2:218659740-218659740
36 BCS1L NM_001079866.2(BCS1L):c.703G>A (p.Gly235Arg) SNV Uncertain significance 265046 rs368486097 GRCh37: 2:219526967-219526967
GRCh38: 2:218662244-218662244
37 BCS1L NM_001079866.2(BCS1L):c.771G>A (p.Thr257=) SNV Uncertain significance 384871 rs148302981 GRCh37: 2:219527284-219527284
GRCh38: 2:218662561-218662561
38 BCS1L NM_001079866.2(BCS1L):c.566A>G (p.Asn189Ser) SNV Uncertain significance 895700 GRCh37: 2:219526587-219526587
GRCh38: 2:218661864-218661864
39 BCS1L NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys) SNV Uncertain significance 214160 rs377025174 GRCh37: 2:219525915-219525915
GRCh38: 2:218661192-218661192
40 BCS1L NM_001079866.2(BCS1L):c.822G>A (p.Pro274=) SNV Uncertain significance 334360 rs112329020 GRCh37: 2:219527335-219527335
GRCh38: 2:218662612-218662612
41 BCS1L NM_001079866.2(BCS1L):c.126A>G (p.Ala42=) SNV Uncertain significance 214156 rs144200704 GRCh37: 2:219525836-219525836
GRCh38: 2:218661113-218661113
42 BCS1L NM_001079866.2(BCS1L):c.171C>T (p.Asp57=) SNV Uncertain significance 380986 rs756932413 GRCh37: 2:219525881-219525881
GRCh38: 2:218661158-218661158
43 BCS1L NM_001079866.2(BCS1L):c.-85G>A SNV Uncertain significance 898620 GRCh37: 2:219524431-219524431
GRCh38: 2:218659708-218659708
44 BCS1L NM_001079866.2(BCS1L):c.201C>T (p.Leu67=) SNV Uncertain significance 290322 rs142540289 GRCh37: 2:219525911-219525911
GRCh38: 2:218661188-218661188
45 BCS1L NM_001079866.2(BCS1L):c.-49-539T>A SNV Uncertain significance 56411 rs386833855 GRCh37: 2:219525123-219525123
GRCh38: 2:218660400-218660400
46 BCS1L NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys) SNV Uncertain significance 554974 rs140812286 GRCh37: 2:219525927-219525927
GRCh38: 2:218661204-218661204
47 BCS1L NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys) SNV Uncertain significance 6174 rs144885874 GRCh37: 2:219526568-219526568
GRCh38: 2:218661845-218661845
48 BCS1L NM_001079866.2(BCS1L):c.-50+425T>C SNV Uncertain significance 334353 rs886055625 GRCh37: 2:219524891-219524891
GRCh38: 2:218660168-218660168
49 BCS1L NM_001079866.2(BCS1L):c.258T>C (p.His86=) SNV Uncertain significance 334357 rs886055627 GRCh37: 2:219525968-219525968
GRCh38: 2:218661245-218661245
50 BCS1L NM_001079866.2(BCS1L):c.-14G>A SNV Uncertain significance 334355 rs367721351 GRCh37: 2:219525697-219525697
GRCh38: 2:218660974-218660974

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

72
# 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

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 membrane GO:0016020 10.18 UQCRQ UQCRFS1 UQCRC2 UQCRB UQCR11 UQCC2
2 mitochondrial respiratory chain complex III GO:0005750 9.8 UQCRQ UQCRFS1 UQCRC2 UQCRB MT-CYB CYC1
3 mitochondrial inner membrane GO:0005743 9.77 UQCRQ UQCRFS1 UQCRC2 UQCRB UQCR11 UQCC2
4 respiratory chain GO:0070469 9.76 UQCRQ UQCRFS1 UQCRC2 UQCRB UQCR11 TTC19
5 mitochondrion GO:0005739 9.5 UQCRQ UQCRFS1 UQCRC2 UQCRB UQCR11 UQCC2
6 integral component of mitochondrial inner membrane GO:0031305 9.4 SCO1 MT-CYB
7 mitochondrial respiratory chain complex IV GO:0005751 9.32 UQCRFS1 UQCRC2

Biological processes related to Gracile Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.76 UQCRQ UQCRFS1 UQCRC2 UQCRB UQCR11 TTC19
2 aerobic respiration GO:0009060 9.43 UQCRC2 UQCRB
3 oxidative phosphorylation GO:0006119 9.4 UQCRC2 UQCRB
4 mitochondrial respiratory chain complex IV assembly GO:0033617 9.37 SCO1 BCS1L
5 mitochondrial respiratory chain complex III assembly GO:0034551 9.35 UQCRFS1 UQCC2 TTC19 LYRM7 BCS1L
6 respiratory electron transport chain GO:0022904 9.32 UQCRFS1 MT-CYB
7 response to glucagon GO:0033762 9.26 MT-CYB CYC1
8 mitochondrial electron transport, ubiquinol to cytochrome c GO:0006122 9.17 UQCRQ UQCRFS1 UQCRC2 UQCRB UQCR11 MT-CYB

Molecular functions related to Gracile Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 electron transfer activity GO:0009055 9.13 UQCR11 MT-CYB CYC1
2 ubiquinol-cytochrome-c reductase activity GO:0008121 8.92 UQCRQ UQCRFS1 UQCR11 MT-CYB

Sources for Gracile Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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