ASXL3 gene related symptoms and diseases
All the information presented here about the ASXL3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ASXL3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Broad nasal tip | Uncommon - Between 30% and 50% cases |
| Wide mouth | Uncommon - Between 30% and 50% cases |
| Prominent nasal bridge | Uncommon - Between 30% and 50% cases |
| Severe global developmental delay | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ASXL3 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Arachnodactyly
- Bulbous nose
- Inability to walk
- Everted lower lip vermilion
- Highly arched eyebrow
- Open mouth
- Pes planus
- Tall stature
And 31 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ASXL3 gene
Here you will find a list of rare diseases related to the ASXL3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SEVERE FEEDING DIFFICULTIES-FAILURE TO THRIVE-MICROCEPHALY DUE TO ASXL3 DEFICIENCY SYNDROME
Alternate names
SEVERE FEEDING DIFFICULTIES-FAILURE TO THRIVE-MICROCEPHALY DUE TO ASXL3 DEFICIENCY SYNDROME Is also known as bainbridge-roppers syndrome
Description
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome is rare, genetic, syndromic intellectual disability disorder with a variable phenotypic presentation typically characterized by microcephaly, severe feeding difficulties, failure to thrive, severe global development delay that frequently results in absent/poor speech, moderate to profound intellectual disability, hypotonia and a distinctive facies that includes prominent forehead, high-arched, thin eyebrows, hypertelorism, downslanting palpebral fissures, long, tubular nose with broad tip and prominent nasal bridge and wide mouth with full, everted lower lip.
More info about SEVERE FEEDING DIFFICULTIES-FAILURE TO THRIVE-MICROCEPHALY DUE TO ASXL3 DEFICIENCY SYNDROME
SOURCES: ORPHANET
BAINBRIDGE-ROPERS SYNDROME; BRPS
Description
Bainbridge-Ropers syndrome (BRPS) is a developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features (summary by Srivastava et al., 2016).
Most common symptoms of BAINBRIDGE-ROPERS SYNDROME; BRPS
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
More info about BAINBRIDGE-ROPERS SYNDROME; BRPS
Search interest in ASXL3
Potential gene panels for ASXL3 gene
Microcephaly Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Microcephaly Sequencing Panel that also includes the following genes: STIL SLC2A1 SLC9A6 PLK4 CDKL5 TCF4 UBE3A WWOX RAB18 CRIPT
More info about this panel United States.
Microcephaly Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Microcephaly Deletion/Duplication Panel that also includes the following genes: STIL SLC1A4 SLC2A1 SLC9A6 SOX11 PLK4 CDKL5 TCF4 UBE3A USP18
More info about this panel United States.
Cornelia de Lange Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cornelia de Lange Seq Analysis that also includes the following genes: SMC1A HDAC8 ASXL1 ANKRD11 SMC3 NIPBL ASXL3 RAD21
More info about this panel United States.
Cornelia de Lange Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cornelia de Lange Seq + Del/Dup Panel that also includes the following genes: SMC1A HDAC8 ASXL1 ANKRD11 SMC3 NIPBL ASXL3 RAD21
More info about this panel United States.
Cornelia de Lange Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Cornelia de Lange Del/Dup Panel that also includes the following genes: SMC1A HDAC8 ASXL1 ANKRD11 SMC3 NIPBL ASXL3 RAD21
More info about this panel United States.
Bainbridge-Ropers syndrome (sequence analysis of ASXL3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the ASXL3 gene.
More info about this panel Portugal.
Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Autism Spectrum Disorders Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN2A SGSH BRAF SLC6A1 SLC9A6 SPAST CDKL5 STXBP1 SYN2
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
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 panel Germany.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
ASXL3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ASXL3 gene.
More info about this panel United States.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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