AUTS2 gene related symptoms and diseases

All the information presented here about the AUTS2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to AUTS2 gene

Symptoms // Phenotype % Cases
Intellectual disability Uncommon - Between 30% and 50% cases
Arthrogryposis multiplex congenita Uncommon - Between 30% and 50% cases
Brachycephaly Uncommon - Between 30% and 50% cases
Hyperactivity Uncommon - Between 30% and 50% cases
Autism Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with AUTS2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Narrow mouth
  • Autistic behavior
  • Wide mouth
  • Short philtrum
  • Small for gestational age
  • Poor speech
  • Hypertonia
  • Thick eyebrow

And 30 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to AUTS2 gene

Here you will find a list of rare diseases related to the AUTS2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY


Alternate names

AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY Is also known as asd due to auts2 deficiency, auts2 syndrome

Description

Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.

Most common symptoms of AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY

SOURCES: ORPHANET OMIM

PRECURSOR B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA


Alternate names

PRECURSOR B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA Is also known as b-all, precursor b-cell acute lymphocytic leukemia, precursor b-cell acute lymphocytic leukemia/lymphoma, precursor b-cell acute lymphoblastic leukemia/lymphoma


More info about PRECURSOR B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA

SOURCES: ORPHANET


Potential gene panels for AUTS2 gene

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

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

Epileptic syndromes with epilepsy and intellectual disability panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Epileptic syndromes with epilepsy and intellectual disability panel that also includes the following genes: SLC6A8 SLC9A6 SMC1A KDM5C SMS CDKL5 STXBP1 SYNGAP1 SYP TCF4

More info about this panel

Autism NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Autism NGS Panel that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN

More info about this panel

AUTS2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AUTS2 gene.

More info about this panel

Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes Panel

Spain.

By Reference Laboratory Genetics Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN

More info about this panel


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