SHANK3 gene related symptoms and diseases
All the information presented here about the SHANK3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SHANK3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Seizures | Very Common - Between 80% and 100% cases |
| Hyperactivity | Very Common - Between 80% and 100% cases |
| Pointed chin | Common - Between 50% and 80% cases |
| Nausea and vomiting | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with SHANK3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Bulbous nose
- Thick eyebrow
- Sleep disturbance
- Full cheeks
- Vesicoureteral reflux
- Dental malocclusion
- Renal dysplasia
- Long eyelashes
And 109 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SHANK3 gene
Here you will find a list of rare diseases related to the SHANK3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SCHIZOPHRENIA 15; SCZD15
Alternate names
SCHIZOPHRENIA 15; SCZD15 Is also known as schizophrenia 15 with or without an affective disorder, schizophrenia susceptibility locus, chromosome 22q13-related
Most common symptoms of SCHIZOPHRENIA 15; SCZD15
- Intellectual disability
- Seizures
- Intellectual disability, mild
- Depressivity
- Hyperactivity
More info about SCHIZOPHRENIA 15; SCZD15
SOURCES: OMIM
MONOSOMY 22Q13
Alternate names
MONOSOMY 22Q13 Is also known as 22q13 deletion, phelan-mcdermid syndrome
Description
Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.
Most common symptoms of MONOSOMY 22Q13
- Intellectual disability
- Seizures
- Global developmental delay
- Hearing impairment
- Strabismus
More info about MONOSOMY 22Q13
SOURCES: ORPHANET
PHELAN-MCDERMID SYNDROME; PHMDS
Alternate names
PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome, telomeric 22q13 monosomy syndrome
Description
Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).
Most common symptoms of PHELAN-MCDERMID SYNDROME; PHMDS
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
More info about PHELAN-MCDERMID SYNDROME; PHMDS
Search interest in SHANK3
Potential gene panels for SHANK3 gene
SHANK3 Sequencing Test Panel
United States.
By Athena Diagnostics Inc
This panel specifically test the SHANK3 gene.
More info about this panel United States.
Syndromic Autism Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Syndromic Autism Panel that also includes the following genes: SCN1A SCN2A BRAF SLC2A1 SLC9A6 SMC1A KDM5C CDKL5 STXBP1 TBR1
More info about this panel United States.
Autism Spectrum Disorders 53-Gene Panel Panel
United States.
By Center for Human Genetics, Inc Autism Spectrum Disorders 53-Gene Panel that also includes the following genes: RPL10 SYN1 SYNGAP1 TSPAN7 PCDH10 CNTNAP2 SH3KBP1 CACNA1H PCDH19 NLGN4X
More info about this panel United States.
Non-Specific Intellectual Disability Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Non-Specific Intellectual Disability Panel that also includes the following genes: RPS6KA3 CLIP1 SCN2A ST3GAL3 SLC16A2 SLC25A1 SLC6A8 SLC9A6 SMARCA4 SMARCB1
More info about this panel United States.
Autism/Intellectual Disability/Multiple Anomalies Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Autism/Intellectual Disability/Multiple Anomalies that also includes the following genes: BDNF RPS6KA3 SCN1A BRAF SLC2A1 SLC6A4 SLC9A6 SMC1A KDM5C SOS1
More info about this panel United States.
AutismNext Panel
United States.
By Ambry Genetics AutismNext that also includes the following genes: SCN2A SLC6A8 SLC9A6 SMC1A CDKL5 SYNGAP1 TBR1 TCF4 MED12 TSC1
More info about this panel United States.
CustomNext: Neuro Panel
United States.
By Ambry Genetics CustomNext: Neuro that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panel United States.
Neurodevelopment-Expanded Panel
United States.
By Ambry Genetics Neurodevelopment-Expanded that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A ST3GAL3 SLC16A2 SLC2A1 SLC35A2
More info about this panel United States.
SHANK3. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SHANK3 gene.
More info about this panel Spain.
Phelan-McDermid syndrome (deletion/duplication analysis of SHANK3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SHANK3 gene.
More info about this panel Portugal.
Schizophrenia 15 (sequence analysis of SHANK3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SHANK3 gene.
More info about this panel Portugal.
Phelan-Mcdermid Syndrome, 22q13 Deletion Syndrome, or Autism Spectrum Disorder via SHANK3 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SHANK3 gene.
More info about this panel United States.
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection that also includes the following genes: BDNF RPS6KA3 SCN2A SCN8A SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMC1A KDM5C
More info about this panel United States.
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.
Phelan-McDermid syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SHANK3 gene.
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.
Autism Spectrum Disorders / Intellectual Disability Disorder Panel
United States.
By Michigan Medical Genetics Laboratories University of Michigan Autism Spectrum Disorders / Intellectual Disability Disorder that also includes the following genes: SLC9A6 CDKL5 TCF4 UBE3A NLGN4X NLGN3 SHANK3 SHANK2 MBD5
More info about this panel United States.
SHANK3 Gene sequencing Panel
United States.
By Michigan Medical Genetics Laboratories University of Michigan
This panel specifically test the SHANK3 gene.
More info about this panel United States.
Autism Spectrum Disorders Panel
Estonia.
By Asper Biogene Asper Biogene LLC Autism Spectrum Disorders that also includes the following genes: RPL10 SCN1A SCN2A BRAF SLC6A4 SLC6A8 CDKL5 MED12 TSC1 TSC2
More info about this panel Estonia.
qChip Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1
More info about this panel Spain.
Autism Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Autism that also includes the following genes: RPL10 SLC25A12 SLC6A4 UBE3A CNTNAP2 FOXP2 CACNA1C CACNA1F CACNA1H PCDH19
More info about this panel Spain.
Rett, Syndrome Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Rett, Syndrome that also includes the following genes: BDNF SCN2A CDKL5 STXBP1 TCF4 UBE3A FOXP2 SHANK3 ARX NTNG1
More info about this panel Spain.
SHANK3 - Gene Sequencing & Del/Dup analysis Panel
Netherlands.
By Genome Diagnostics VU University Medical Center
This panel specifically test the SHANK3 gene.
More info about this panel Netherlands.
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 United States.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
SHANK3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SHANK3 gene.
More info about this panel United States.
Autism Spectrum Disorders Panel Panel
Finland.
By Blueprint Genetics Autism Spectrum Disorders Panel that also includes the following genes: RPL10 TCF20 TRIP12 TSC1 TSC2 BCL11A CACNA1C NSD1 NLGN4X NLGN3
More info about this panel Finland.
Phelan-McDermid syndrome Panel
Spain.
By Bioarray
This panel specifically test the SHANK3 gene.
More info about this panel Spain.
Schizophrenia Panel
Spain.
By Bioarray
This panel specifically test the SHANK3 gene.
More info about this panel Spain.
SPECTRUM AUTISM DISORDER (AUTISM, ASPERGER SYNDROME) Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the SHANK3 gene.
More info about this panel Spain.
Schizophrenia Susceptibility to , Sequencing SHANK3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SHANK3 gene.
More info about this panel Spain.
Rett Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 18 Genes Panel
Spain.
By Reference Laboratory Genetics Rett Syndrome and Related Disorders , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: BDNF SCN2A CDKL5 STXBP1 TCF4 UBE3A FOXP2 SHANK3 ARX NTNG1
More info about this panel Spain.
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 Spain.
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