ARID2 gene related symptoms and diseases
All the information presented here about the ARID2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ARID2 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Coarse facial features | Very Common - Between 80% and 100% cases |
Hernia | Very Common - Between 80% and 100% cases |
Wide mouth | Very Common - Between 80% and 100% cases |
Short philtrum | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with ARID2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hypoplasia of the corpus callosum
- Intrauterine growth retardation
- Short distal phalanx of finger
- Epicanthus
- Depressed nasal bridge
- Dandy-Walker malformation
- Seizures
- Cleft palate
And 110 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ARID2 gene
Here you will find a list of rare diseases related to the ARID2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
COFFIN-SIRIS SYNDROME
Alternate names
COFFIN-SIRIS SYNDROME Is also known as css
Description
Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.
Most common symptoms of COFFIN-SIRIS SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
More info about COFFIN-SIRIS SYNDROME
SOURCES: ORPHANET
COFFIN-SIRIS SYNDROME 6; CSS6
Description
Coffin-Siris syndrome-6 is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies. Some patients have fifth digit clinodactyly with small nails. Other congenital anomalies and seizures may be present. This description is based on reports of 7 unrelated patients (Shang et al., 2015; Van Paemel et al., 2017; Bramswig et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).
Most common symptoms of COFFIN-SIRIS SYNDROME 6; CSS6
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about COFFIN-SIRIS SYNDROME 6; CSS6
SOURCES: OMIM
Search interest in ARID2
Potential gene panels for ARID2 gene
Coffin-Siris Syndrome Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Coffin-Siris Syndrome Panel that also includes the following genes: SMARCA2 SMARCA4 SMARCB1 SMARCE1 ARID1A SMC1A SOX11 BTD HDAC8 ADNP
More info about this panelMental retardation - different panels Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panelARID2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ARID2 gene.
More info about this panelFoundationOne® Heme Panel
By Foundation Medicine, Inc. FoundationOne® Heme that also includes the following genes: BCL6 BCL7A ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1
More info about this panelNeoTYPE® Discovery Profile for Solid Tumors Panel
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. NeoTYPE® Discovery Profile for Solid Tumors that also includes the following genes: BCL6 ROS1 RUNX1 BLM SDHA SDHB SDHC SDHD SF3B1 FOXL2
More info about this panelCaris MI TumorSeek 592-Gene NGS Panel Panel
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panelProvidence Personalized Medicine Panel - Solid Tumor Panel
By Providence Regional Laboratories Providence Health and Services Providence Personalized Medicine Panel - Solid Tumor that also includes the following genes: BCR ROS1 RUNX1 SDHA SDHB SDHC SDHD SF3B1 SRSF2 FOXL2
More info about this panelTempus xT assay Panel
By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
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