Gracile Syndrome
Description
GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).
Clinical Features
Top most frequent phenotypes and symptoms related to Gracile Syndrome
- Hearing impairment
- Growth delay
- Intrauterine growth retardation
- Acidosis
- Neonatal hypotonia
- Lactic acidosis
- Cirrhosis
- Hepatic steatosis
- Aciduria
- Hepatitis
And another 10 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Gracile Syndrome Is also known as growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome, growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome, lactic acidosis, finnish, with hepatic hemosiderosis, fellman syndrome.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Gracile Syndrome Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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BCS1L Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
BCS1L
Specificity
100 %
Genes
100 % |
BCS1L Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
BCS1L
Specificity
100 %
Genes
100 % |
BCS1L Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
BCS1L
Specificity
100 %
Genes
100 % |
BCS1L Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
BCS1L
Specificity
100 %
Genes
100 % |
MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
GeneAware Complete Panel Version 2 (Female).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)
View the complete list with 139 more genes
Specificity
1 %
Genes
100 % |
GeneAware Complete Panel Version 2 (Male).
By Baylor Miraca Genetics Laboratories (United States).
RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)
View the complete list with 129 more genes
Specificity
1 %
Genes
100 % |
Hearing Loss Advanced Sequencing and CNV Evaluation.
By Athena Diagnostics Inc (United States).
BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)
View the complete list with 149 more genes
Specificity
1 %
Genes
100 % |
You can get up to 68 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET MESH OMIM Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VAN MALDERGEM SYNDROME 2; VMLDS2 RUSSELL-SILVER SYNDROME, X-LINKED CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3 C1q DEFICIENCY; C1QD ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS; HANAC KRABBE DISEASE MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A