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.

Click here to know more about Mendelian.

Incidence and onset information

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Hypotonia-cystinuria Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®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 %

We have 45 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THYROID DYSHORMONOGENESIS 2A; TDH2A RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY; FBP1D BREAST CANCER

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more