Hypotonia-cystinuria Syndrome
Description
Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.
Clinical Features
Top most frequent phenotypes and symptoms related to Hypotonia-cystinuria Syndrome
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Growth delay
- Failure to thrive
- Muscle weakness
- Abnormal facial shape
- Muscular hypotonia
- Ptosis
And another 35 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
Hypotonia-cystinuria Syndrome Is also known as cystinuria with mitochondrial disease, hcs, homozygous 2p16 deletion syndrome, formerly.
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.Hypotonia-cystinuria Syndrome Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
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
50 % |
Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication).
By ARUP Laboratories, Molecular Genetics and Genomics (United States).
BCS1L, SCO1, SCO2, SDHB, SDHC, SDHD, SLC22A5, SLC25A13, SLC25A15, SLC25A3, SLC25A4, SLC3A1, SPG7, SUCLA2, SUCLG1, SUOX, SURF1, TAZ, TWNK, TIMM8A , (...)
View the complete list with 130 more genes
Specificity
2 %
Genes
100 % |
SLC3A1. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
SLC3A1
Specificity
100 %
Genes
50 % |
SLC3A1, SLC7A9. NextGeneDx. Complete sequencing by NGS.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
SLC3A1, SLC7A9
Specificity
50 %
Genes
50 % |
Cystinuria (sequence analysis of SLC3A1 gene).
By CGC Genetics (Portugal).
SLC3A1
Specificity
100 %
Genes
50 % |
Hypotonia-cystinuria syndrome (deletion/duplication analysis of PREPL, SLC3A1 and SLC7A9 genes).
By CGC Genetics (Portugal).
SLC3A1, SLC7A9, PREPL
Specificity
67 %
Genes
100 % |
Hypotonia-cystinuria syndrome (deletion/duplication analysis of PREPL, SLC3A1 and SLC7A9 genes).
By CGC Genetics (Portugal).
SLC3A1, SLC7A9, PREPL
Specificity
67 %
Genes
100 % |
Cystinuria.
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders (Germany).
SLC3A1, SLC7A9
Specificity
50 %
Genes
50 % |
You can get up to 45 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT5 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1 EPISODIC PAIN SYNDROME, FAMILIAL, 2; FEPS2