1. Mendelian
  2. Rare Diseases
  3. DOWN SYNDROME

Down Syndrome

Table of contents:

Description

Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.

Genes related to Down Syndrome

  • CXCL8
  • APOE
  • SOD1
  • GATA1
  • RCAN1
  • PRDX6
  • NTF3
  • S100B
  • PRDX2
  • VIP
  • CALCA
  • MTHFR
  • GSTM2
  • SLC19A1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Down Syndrome

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Neoplasm
  • Strabismus
  • Muscular hypotonia
  • Cataract
  • Cognitive impairment

And another 92 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available DOWN SYNDROME have a estimated birth prevalence of 95 per 100k in Europe.
— No data available about the known clinical features onset.

Alternative names

Down Syndrome Is also known as trisomy 21.

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.

Down Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CXCL8.

By Fulgent Genetics Fulgent Genetics (United States).

CXCL8
Specificity
100 %
Genes
8 %
ADmark® ApoE Genotype Analysis and Interpretation (Symptomatic).

By Athena Diagnostics Inc (United States).

APOE
Specificity
100 %
Genes
8 %
Dementia.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SORL1, TARDBP, VCP, FIG4, OPTN, TREM2, CSF1R, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, GRN, ANG, APOE, APP, MAPT, PRNP, PSEN1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
8 %
Apolipoprotein E (APOE) Genotype.

By Molecular Diagnostics Laboratory University of Toledo Medical Center (United States).

APOE
Specificity
100 %
Genes
8 %
APOE.

By Institute for Human Genetics University Clinic Freiburg (Germany).

APOE
Specificity
100 %
Genes
8 %
Alzheimer Disease Risk Factor (APOE).

By GENE Núcleo de Genética Médica de Minas Gerais (Brazil).

APOE
Specificity
100 %
Genes
8 %
Cardiovascular Disease Risk Factor (Apolipoprotein E).

By Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust (United Kingdom).

APOE
Specificity
100 %
Genes
8 %
Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

SAR1B, SLCO1B1, ABCG5, ABCG8, LMF1, SCARB1, APOA5, LDLRAP1, CETP, PCSK9, MYLIP, STAP1, GPIHBP1, CYP27A1, CYP7A1, ANGPTL3, APOC2, APOC3, APOE, LCAT , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
8 %

You can get up to 346 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Search Engine

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