ASPM gene related symptoms and diseases
All the information presented here about the ASPM gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ASPM gene
Symptoms // Phenotype | % Cases |
---|---|
Agenesis of corpus callosum | Common - Between 50% and 80% cases |
Growth delay | Common - Between 50% and 80% cases |
Sloping forehead | Common - Between 50% and 80% cases |
Intellectual disability | Common - Between 50% and 80% cases |
Seizures | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with ASPM gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Small cerebral cortex
- Microcephaly
- Short stature
- Delayed speech and language development
- Ventriculomegaly
- Intellectual disability, severe
- Intellectual disability, moderate
- Hypoplasia of the frontal lobes
And 69 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ASPM gene
Here you will find a list of rare diseases related to the ASPM. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
POLYCYSTIC OVARY SYNDROME 1; PCOS1
Alternate names
POLYCYSTIC OVARY SYNDROME 1; PCOS1 Is also known as pco, pco1, hyperandrogenemia, stein-leventhal syndrome, pcos
Description
a health problem that can affect a woman's menstrual cycle, fertility, hormones, insulin production, heart, blood vessels, and appearance
Most common symptoms of POLYCYSTIC OVARY SYNDROME 1; PCOS1
- Neoplasm
- Abnormality of metabolism/homeostasis
- Obesity
- Diabetes mellitus
- Apnea
More info about POLYCYSTIC OVARY SYNDROME 1; PCOS1
MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5
Description
Autosomal recessive primary microcephaly-5 (MCPH5) is characterized by decreased occipitofrontal circumference (OFC), usually less than 3 standard deviations (SD) of the mean, present at birth and associated with mental retardation and speech delay. Other features may include short stature or mild seizures. MCPH5 is associated with a simplification of the cerebral cortical gyral pattern in some cases, which is considered within the phenotypic spectrum of primary microcephaly (review by Woods et al., 2005; Saadi et al., 2009; Passemard et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of primary microcephaly (MCPH), see MCPH1 (OMIM ).
Most common symptoms of MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5
- Intellectual disability
- Seizures
- Short stature
- Hearing impairment
- Microcephaly
More info about MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE; MCPH5
AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY
Alternate names
AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY Is also known as mcph, premature chromosome condensation with microcephaly and mental retardation, pcc syndrome, true microcephaly, premature chromosome condensation syndrome, microcephalia vera, microcephaly vera
Description
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.
Most common symptoms of AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Microcephaly
More info about AUTOSOMAL RECESSIVE PRIMARY MICROCEPHALY
Search interest in ASPM
Potential gene panels for ASPM gene
Primary Microcephaly Sequencing Evaluation Panel
By Athena Diagnostics Inc Primary Microcephaly Sequencing Evaluation that also includes the following genes: ASPM WDR62 MCPH1
More info about this panelASPM Sequencing Test Panel
By Athena Diagnostics Inc
This panel specifically test the ASPM gene.
More info about this panelEpilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies Panel
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN9A ST3GAL5 SLC2A1 SLC35A2 SLC6A1
More info about this panelEpilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations Panel
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations that also includes the following genes: SHH STIL SIX3 TUBA8 SLC25A19 DEAF1 ARFGEF2 RAB3GAP1 CENPJ NDE1
More info about this panelEpilepsy Advanced Sequencing and CNV Evaluation Panel
By Athena Diagnostics Inc Epilepsy Advanced Sequencing and CNV Evaluation that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5
More info about this panelNGS Epilepsy/Seizure Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Epilepsy/Seizure Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN5A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panelComprehensive Brain Malformation Panel Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Brain Malformation Panel that also includes the following genes: SHH STIL SIX3 SLC9A6 SOX2 CDKL5 TGIF1 MED12 CEP41 TUBA8
More info about this panelEpilepsy/Seizure Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Epilepsy/Seizure that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 BTD SPTAN1
More info about this panelMicrocephaly Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Microcephaly that also includes the following genes: STIL SLC9A6 CDKL5 TCF4 UBE3A RAB18 SLC25A19 ZEB2 CASK PCNT
More info about this panelASPM sequencing Panel
By Genetic Services Laboratory University of Chicago
This panel specifically test the ASPM gene.
More info about this panelASPM deletion/duplication analysis Panel
By Genetic Services Laboratory University of Chicago
This panel specifically test the ASPM gene.
More info about this panelMicrocephaly Sequencing Panel Panel
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 panelMicrocephaly Deletion/Duplication Panel Panel
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 panelASPM Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the ASPM gene.
More info about this panelAutism/Intellectual Disability/Multiple Anomalies Panel
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 panelASPM mutation analysis Panel
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the ASPM gene.
More info about this panelASPM. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the ASPM gene.
More info about this panelMicrocephaly, primary AR (deletion/duplication analysis of ASPM gene) Panel
By CGC Genetics
This panel specifically test the ASPM gene.
More info about this panelPrimary Autosomal Recessive Microcephaly type 5 (sequence analysis of ASPM gene) Panel
By CGC Genetics
This panel specifically test the ASPM gene.
More info about this panelMicrocephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) Panel
By CGC Genetics Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT
More info about this panelPrimary Microcephaly, Autosomal Recessive, via ASPM Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the ASPM gene.
More info about this panelPrimary Microcephaly, Autosomal Recessive, Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Primary Microcephaly, Autosomal Recessive, Sequencing Panel with CNV Detection that also includes the following genes: STIL CENPJ CDK5RAP2 ASPM CIT KNL1 WDR62 CEP135 CEP152 MCPH1
More info about this panelMicrocephaly Panel
By Institute of Human Genetics Uniklinik RWTH Aachen Microcephaly that also includes the following genes: STIL ZNF335 CENPJ CDK5RAP2 ASPM KNL1 WDR62 CEP63 CEP135 CEP152
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 panelNeuronal Migration with Microcephaly Panel
By MGZ Medical Genetics Center Neuronal Migration with Microcephaly that also includes the following genes: STIL CENPJ CDK5RAP2 ASPM WDR62 CEP152
More info about this panelBrain Malformations / Neuronal Migration Disorders Panel
By MGZ Medical Genetics Center Brain Malformations / Neuronal Migration Disorders that also includes the following genes: RPL10 RPS6KA3 SCN1A SCN1B SCN2A SCN8A SGCE SGSH STIL SLC16A2
More info about this panelMicrocephaly, primary, autosomal recessive type 5 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ASPM gene.
More info about this panelMicrocephaly panel Panel
By Centogene AG - the Rare Disease Company Microcephaly panel that also includes the following genes: MSMO1 STIL SLC25A19 CASK PCNT CENPJ NDE1 TUBGCP6 IER3IP1 CDK5RAP2
More info about this panelAllNeuro panel Panel
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 panelCentoICU platinum plus Panel
By Centogene AG - the Rare Disease Company CentoICU platinum plus that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelNew Born testing (CentoICU) Panel
By Centogene AG - the Rare Disease Company New Born testing (CentoICU) that also includes the following genes: RMRP BCS1L BDNF RPS19 RPS6KA3 SALL1 SCN1A SCN2A SFTPB SFTPC
More info about this panelMicrocephaly and Pontocerebellar Hypoplasia Panel Panel
By CeGaT GmbH Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT
More info about this panelMicrocephaly and Pontocerebellar Hypoplasia Panel Panel
By CeGaT GmbH Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL BUB1B TUBG1 VRK1 SLC25A19 NIN CASK TSEN34 ZNF335 PCNT
More info about this panelSingle gene testing ASPM Panel
By CeGaT GmbH
This panel specifically test the ASPM gene.
More info about this panelPrimary Autosomal Recessive Microcephaly Type 5 Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the ASPM gene.
More info about this panelMicrocephaly 5, primary, autosomal recessive (MCPH5, ASPM) Panel
By MVZ Dortmund Dr. Eberhard & Partner
This panel specifically test the ASPM gene.
More info about this panelMicrocephaly Panel
By Asper Biogene Asper Biogene LLC Microcephaly that also includes the following genes: STIL SLC25A19 CASK PCNT CENPJ NDE1 TUBGCP6 IER3IP1 CDK5RAP2 ASPM
More info about this panelBrain malformations Panel
By Asper Biogene Asper Biogene LLC Brain malformations that also includes the following genes: STIL SLC12A6 SNAP29 TCF4 CEP41 TUBB2A TUBG1 VLDLR VRK1 ACTB
More info about this panelMicrocephaly 5, Primary autosomal recessive: ASPM gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the ASPM gene.
More info about this panelMicrocephaly, primary, autosomal recessive and Seckel syndrome spectrum disorders Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Microcephaly, primary, autosomal recessive and Seckel syndrome spectrum disorders that also includes the following genes: STIL CENPJ CDK6 CDK5RAP2 ASPM KNL1 WDR62 CEP63 CEP135 CEP152
More info about this panelEpilepsy and Seizure Disorders: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panelNeurology: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neurology: Sequencing Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL SIX3
More info about this panelEpilepsy and Seizure Disorders: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Epilepsy and Seizure Disorders: Deletion/Duplication Panel that also includes the following genes: SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SHH ST3GAL3 ST3GAL5 STIL
More info about this panelEpilepsy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Epilepsy NGS Panel that also includes the following genes: BCS1L SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B SCN5A
More info about this panelIntellectual Disability NGS Panel Panel
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 panelASPM Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ASPM gene.
More info about this panelComprehensive Epilepsy NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Comprehensive Epilepsy NGS Panel that also includes the following genes: BCS1L RYR3 SCN10A SCN1A SCN1B SCN2A SCN2B SCN3A SCN4A SCN4B
More info about this panelMicrocephaly and Pontocerebellar Hypoplasia Panel Panel
By Blueprint Genetics Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: STIL PLK4 VRK1 XRCC4 GFM1 CASK PCNT TUBGCP4 STAMBP CENPJ
More info about this panelMicrocephaly 5, primary, autosomal recessive Panel
By Bioarray
This panel specifically test the ASPM gene.
More info about this panelMicrocephaly primary autosomal recessive Panel
By Laboratorio de Genetica Clinica SL Microcephaly primary autosomal recessive that also includes the following genes: STIL CENPJ CDK6 CDK5RAP2 ASPM CIT KNL1 WDR62 SASS6 CEP63
More info about this panelPRIMARY MICROCEPHALY (AUTOSOMAL RECESSIVE) (VERA MICROCEPHALY) Panel
By Laboratorio de Genetica Clinica SL PRIMARY MICROCEPHALY (AUTOSOMAL RECESSIVE) (VERA MICROCEPHALY) that also includes the following genes: STIL CENPJ CDK6 CDK5RAP2 ASPM KNL1 WDR62 SASS6 CEP63 CEP135
More info about this panelAutosomal Recessive Primary Microcephaly Type 5 , Sequencing ASPM Gene Panel
By Reference Laboratory Genetics
This panel specifically test the ASPM gene.
More info about this panelAutosomal Recessive Primary Microcephaly Type 5 , Deletions-Duplications (MLPA) ASPM Gene Panel
By Reference Laboratory Genetics
This panel specifically test the ASPM gene.
More info about this panelAutosomal Recessive Primary Microcephaly , Panel Massive Sequencing (NGS) 8 Genes Panel
By Reference Laboratory Genetics Autosomal Recessive Primary Microcephaly , Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: CENPJ CDK6 CDK5RAP2 ASPM KNL1 WDR62 CEP135 MCPH1
More info about this panelMalformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes Panel
By Reference Laboratory Genetics Malformations of Cortical Development , Panel Massive Sequencing (NGS) 38 Genes that also includes the following genes: TUBA8 VLDLR ACTB ACTG1 CASK ARFGEF2 NDE1 FKRP ARX ASPM
More info about this panelPrimary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders: gene sequencing panel that also includes the following genes: STIL NIN CENPJ CDK6 CDK5RAP2 ASPM KNL1 WDR62 CEP63 CEP135
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