MCPH1 gene related symptoms and diseases
All the information presented here about the MCPH1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to MCPH1 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Craniosynostosis | Very Common - Between 80% and 100% cases |
Small cerebral cortex | Very Common - Between 80% and 100% cases |
Hypoplasia of the frontal lobes | Very Common - Between 80% and 100% cases |
Bird-like facies | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with MCPH1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Abnormal cortical bone morphology
- Mild microcephaly
- Chromosome breakage
- Unilateral renal agenesis
- Hypergonadotropic hypogonadism
- Pachygyria
- Heterotopia
- Spastic tetraplegia
And 20 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to MCPH1 gene
Here you will find a list of rare diseases related to the MCPH1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
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 MCPH1
Potential gene panels for MCPH1 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 panelMCPH1 Sequencing Test Panel
By Athena Diagnostics Inc
This panel specifically test the MCPH1 gene.
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 panelMCPH1 sequencing Panel
By Genetic Services Laboratory University of Chicago
This panel specifically test the MCPH1 gene.
More info about this panelAutosomal Recessive Primary Microcephaly Tier 2 panel Panel
By Genetic Services Laboratory University of Chicago Autosomal Recessive Primary Microcephaly Tier 2 panel that also includes the following genes: STIL SLC25A19 ZNF335 ARFGEF2 STAMBP CENPJ NDE1 CDK6 CENPE CENPF
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 panelMCPH1 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the MCPH1 gene.
More info about this panelMCPH1 mutation analysis Panel
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the MCPH1 gene.
More info about this panelMCPH1. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the MCPH1 gene.
More info about this panelPrimary Autosomal Recessive Microcephaly type 1 (sequence analysis of MCPH1 gene) Panel
By CGC Genetics
This panel specifically test the MCPH1 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 MCPH1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the MCPH1 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 panelMicrocephaly, primary, autosomal recessive type I Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the MCPH1 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 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, 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 panelMicrocephaly NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Microcephaly NGS Panel that also includes the following genes: MSMO1 STIL BUB1B VRK1 SLC25A19 CASK TSEN34 PCNT CENPJ NDE1
More info about this panelMCPH1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the MCPH1 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 panelAutosomal recessive primary microcephaly type 1 Panel
By Bioarray
This panel specifically test the MCPH1 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 1 , Sequencing MCPH1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the MCPH1 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 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
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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