Down Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Click here to know more about Mendelian.

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 Panel complete gene list SORL1, TARDBP, VCP, FIG4, OPTN, TREM2, CSF1R, CHMP2B, DCTN1, C9orf72, FUS, ALS2, SETX, GRN, ANG, APOE, APP, MAPT, PRNP, PSEN1, PSEN2 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 Panel complete gene list SAR1B, SLCO1B1, ABCG5, ABCG8, LMF1, SCARB1, APOA5, LDLRAP1, CETP, PCSK9, MYLIP, STAP1, GPIHBP1, CYP27A1, CYP7A1, ANGPTL3, APOC2, APOC3, APOE, LCAT, LDLR, LIPA, LIPC, LIPG, MTTP Specificity 4 % Genes 8 %

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

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1; ANFH1 ARTHROGRYPOSIS, DISTAL, TYPE 3; DA3 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E; CMTDIE MICROTIA-ANOTIA PSEUDO-TORCH SYNDROME 2; PTORCH2 FRONTORHINY