CDK5RAP2 gene related symptoms and diseases

All the information presented here about the CDK5RAP2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET.

Top 5 symptoms associated to CDK5RAP2 gene



Symptoms // Phenotype % Cases
Autosomal recessive inheritance Very Common - Between 80% and 100% cases
Growth delay Very Common - Between 80% and 100% cases
Small cerebral cortex Very Common - Between 80% and 100% cases
Intellectual disability, moderate Very Common - Between 80% and 100% cases
Sloping forehead Very Common - Between 80% and 100% cases

Other less frequent symptoms

Patients with CDK5RAP2 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases

Microcephaly

Not very common - Between 30% and 50% cases

Global developmental delay

Commonly - More than 50% cases

Short stature

Not very common - Between 30% and 50% cases

Widely spaced teeth Progressive microcephaly Proptosis Muscular hypotonia Sensorineural hearing impairment

And 27 more phenotypes.

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Rare diseases associated to CDK5RAP2 gene

Here you will find a list of rare diseases related to the CDK5RAP2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1

Alternate names

MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1 Is also known as premature chromosome condensation with microcephaly and mental retardation, premature chromosome condensation syndrome, pcc syndrome;mcph; microcephalia vera; microcephaly vera; true microcephaly

Description

Primary microcephaly refers to the clinical finding of a head circumference more than than 3 standard deviations (SD) below the age- and sex-related mean, present at birth. Primary microcephaly is a static developmental anomaly, distinguished from secondary microcephaly, which refers to a progressive neurodegenerative condition. Microcephaly is a disorder of fetal brain growth; individuals with microcephaly have small brains and almost always have mental retardation, although rare individuals with mild microcephaly (-3 SD) and normal intelligence have been reported. Additional clinical features may include short stature or mild seizures. MCPH is associated with a simplification of the cerebral cortical gyral pattern and a slight reduction in the volume of the white matter, consistent with the small size of the brain, but the architecture of the brain in general is normal, with no evidence of a neuronal migration defect (review by Woods et al., 2005).Most cases of primary microcephaly show an autosomal recessive mode of inheritance. Because MCPH directly affects neurogenesis, or neurogenic mitosis, rather than growth of the skull, some prefer the term 'micrencephaly' (Hofman, 1984).MCPH1 in particular is associated with premature chromosome condensation in cell studies (Darvish et al., 2010). Genetic Heterogeneity of Primary MicrocephalyPrimary microcephaly is a genetically heterogeneous disorder. See MCPH2 (OMIM ), caused by mutation in the WDR62 gene (OMIM ) on chromosome 19q13; MCPH3 (OMIM ), caused by mutation in the CDK5RAP2 gene (OMIM ) on 9q33; MCPH4 (OMIM ), caused by mutation in the CASC5 gene (OMIM ) on 15q14; MCPH5 (OMIM ), caused by mutation in the ASPM gene (OMIM ) on 1q; MCPH6 (OMIM ), caused by mutation in the CENPJ gene (OMIM ) on 13q12; MCPH7 (OMIM ), caused by mutation in the STIL gene (OMIM ) on 1p33; MCPH8 (OMIM ), caused by mutation in the CEP135 gene (OMIM ) on 4q12; MCPH9 (OMIM ), caused by mutation in the CEP152 gene (OMIM ) on 15q21; MCPH10 (OMIM ), caused by mutation in the ZNF335 gene (OMIM ) on 20q13; MCPH11 (OMIM ), caused by mutation in the PHC1 gene (OMIM ) on 12p13; MCPH12 (OMIM ), caused by mutation in the CDK6 gene (OMIM ) on 7q21; MCPH13 (OMIM ), caused by mutation in the CENPE gene (OMIM ) on 4q24; MCPH14 (OMIM ), caused by mutation in the SASS6 gene (OMIM ) on 1p21; MCPH15 (OMIM ), caused by mutation in the MFSD2A gene (OMIM ) on 1p34; MCPH16 (OMIM ), caused by mutation in the ANKLE2 gene (OMIM ) on 12q24; MCPH17 (OMIM ), caused by mutation in the CIT gene (OMIM ) on 12q24; MCPH18 (OMIM ), caused by mutation in the WDFY3 gene (OMIM ) on 4q21; and MCPH19 (OMIM ), caused by mutation in the COPB2 gene (OMIM ) on 3q23.

Most common symptoms of MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


More info about MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE; MCPH1

SOURCES: MESH UMLS MONDO OMIM ORPHANET

MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE; MCPH3

Most common symptoms of MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE; MCPH3

  • Autosomal recessive inheritance
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


More info about MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE; MCPH3

SOURCES: MONDO OMIM MESH UMLS

Potential gene panels for CDK5RAP2 gene

NGS Epilepsy/Seizure Panel Panel

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. NGS Epilepsy/Seizure Panel that also includes the following genes: MTHFR UBE3A ADSL SHH POLG SLC25A19 MECP2 LIAS ABAT GAMT

More info about this panel

Comprehensive Brain Malformation Panel Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. Comprehensive Brain Malformation Panel that also includes the following genes: UBE3A PTEN TUBB3 CC2D2A OTX2 TMEM67 NPHP1 CEP290 SHH SLC25A19

More info about this panel

Microcephaly Panel

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. Microcephaly that also includes the following genes: UBE3A TUBB3 SLC25A19 MECP2 SLC9A6 CDKL5 DHCR7 FOXG1 WDR62 NIPBL

More info about this panel

CDK5RAP2 sequencing Panel

By Genetic Services Laboratory University of Chicago in United States.

This panel specifically test the CDK5RAP2 gene.

More info about this panel

Autosomal Recessive Primary Microcephaly Tier 2 panel Panel

By Genetic Services Laboratory University of Chicago in United States. Autosomal Recessive Primary Microcephaly Tier 2 panel that also includes the following genes: SLC25A19 WDR62 MCPH1 ARFGEF2 CENPJ NDE1 STIL PNKP CEP152 CDK5RAP2

More info about this panel

Comprehensive Primordial Dwarfism Panel Panel

By Genetic Services Laboratory University of Chicago in United States. Comprehensive Primordial Dwarfism Panel that also includes the following genes: CENPJ CEP152 CDK5RAP2 PCNT ATR DNA2 TRIM37 RBBP8 LIG4 RTTN

More info about this panel

Microcephaly Sequencing Panel Panel

By Genetic Services Laboratory University of Chicago in United States. Microcephaly Sequencing Panel that also includes the following genes: UBE3A SLC25A19 MECP2 SLC9A6 WWOX CDKL5 FOXG1 SLC2A1 WDR62 NBN

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Microcephaly Deletion/Duplication Panel Panel

By Genetic Services Laboratory University of Chicago in United States. Microcephaly Deletion/Duplication Panel that also includes the following genes: UBE3A SLC25A19 MECP2 SLC9A6 WWOX CDKL5 FOXG1 SLC2A1 WDR62 NBN

More info about this panel

CDK5RAP2 Panel

By Institute for Human Genetics University Clinic Freiburg in Germany.

This panel specifically test the CDK5RAP2 gene.

More info about this panel

Microcephaly 3, primary, AR (sequence analysis of CDK5RAP2 gene) Panel

By CGC Genetics in Portugal.

This panel specifically test the CDK5RAP2 gene.

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Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) Panel

By CGC Genetics in Portugal. Microcephaly and pontocerebellar hypoplasia (NGS panel for 52 genes) that also includes the following genes: SLC25A19 DNM1L RARS2 WDR62 DYNC1H1 VRK1 POMT1 MCPH1 ASPM MBD5

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Primary Microcephaly, Autosomal Recessive, via CDK5RAP2 Gene Sequencing with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States.

This panel specifically test the CDK5RAP2 gene.

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Primary Microcephaly, Autosomal Recessive, Sequencing Panel with CNV Detection Panel

By PreventionGenetics PreventionGenetics in United States. Primary Microcephaly, Autosomal Recessive, Sequencing Panel with CNV Detection that also includes the following genes: WDR62 MCPH1 ASPM CENPJ STIL CEP152 CDK5RAP2 CIT CEP135 KNL1

More info about this panel

Mental retardation - different panels Panel

By Institute of Human Genetics Cologne University in Germany. Mental retardation - different panels that also includes the following genes: FMR1 UBE3A PTEN MCCC1 MCCC2 ACAD9 PC ANKH HLCS ATP7A

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Microcephaly Panel

By Institute of Human Genetics Cologne University in Germany. Microcephaly that also includes the following genes: WDR62 MCPH1 ASPM CENPJ STIL PNKP CEP152 CDK5RAP2 ZNF335 CEP135

More info about this panel

Seckel Syndrome Panel

By Institute of Human Genetics Cologne University in Germany. Seckel Syndrome that also includes the following genes: CENPJ CEP152 CDK5RAP2 ATR DNA2 RBBP8 NIN ATRIP

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Neuronal Migration with Microcephaly Panel

By MGZ Medical Genetics Center in Germany. Neuronal Migration with Microcephaly that also includes the following genes: WDR62 ASPM CENPJ STIL CEP152 CDK5RAP2

More info about this panel

Brain Malformations / Neuronal Migration Disorders Panel

By MGZ Medical Genetics Center in Germany. Brain Malformations / Neuronal Migration Disorders that also includes the following genes: FMR1 UBE3A PTEN APP TUBB3 HSD17B10 HPRT1 PANK2 FH MECP2

More info about this panel

Microcephaly panel Panel

By Centogene AG - the Rare Disease Company in Germany. Microcephaly panel that also includes the following genes: SLC25A19 DNM1L WDR62 POMT1 MCPH1 ASPM CENPJ NDE1 PAFAH1B1 STIL

More info about this panel

Microcephaly 3, primary, autosomal recessive Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the CDK5RAP2 gene.

More info about this panel

AllNeuro panel Panel

By Centogene AG - the Rare Disease Company in Germany. AllNeuro panel that also includes the following genes: F2 F5 FMR1 HTT HFE MTHFR TTR UBE3A VHL PTEN

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CentoICU platinum plus Panel

By Centogene AG - the Rare Disease Company in Germany. CentoICU platinum plus that also includes the following genes: BRCA2 F2 F5 MTHFR UBE3A MCCC1 MCCC2 AARS2 ACAD9 ACADL

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CentoICU platinum Panel

By Centogene AG - the Rare Disease Company in Germany. CentoICU platinum that also includes the following genes: BRCA2 F2 F5 MTHFR UBE3A MCCC1 MCCC2 AARS2 ACAD9 ACADL

More info about this panel

Microcephaly and Pontocerebellar Hypoplasia Panel Panel

By CeGaT GmbH in Germany. Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: SLC25A19 RARS2 WDR62 DYNC1H1 VRK1 MCPH1 ASPM MBD5 CENPJ PQBP1

More info about this panel

Microcephaly and Pontocerebellar Hypoplasia Panel Panel

By CeGaT GmbH in Germany. Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: SLC25A19 RARS2 WDR62 DYNC1H1 VRK1 MCPH1 ASPM MBD5 CENPJ PQBP1

More info about this panel

Single gene testing CDK5RAP2 Panel

By CeGaT GmbH in Germany.

This panel specifically test the CDK5RAP2 gene.

More info about this panel

Microcephaly Panel

By Asper Biogene Asper Biogene LLC in Estonia. Microcephaly that also includes the following genes: SLC25A19 WDR62 POMT1 MCPH1 ASPM CENPJ NDE1 PAFAH1B1 STIL TUBB2B

More info about this panel

Brain malformations Panel

By Asper Biogene Asper Biogene LLC in Estonia. Brain malformations that also includes the following genes: TUBB3 INPP5E CC2D2A ATP6V0A2 SRD5A3 TMEM67 NPHP1 CEP290 DLD SLC25A19

More info about this panel

Microcephaly, primary, autosomal recessive and Seckel syndrome spectrum disorders Panel

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. Microcephaly, primary, autosomal recessive and Seckel syndrome spectrum disorders that also includes the following genes: WDR62 MCPH1 ASPM CENPJ STIL CEP152 CDK5RAP2 ATR RBBP8 CDK6

More info about this panel

Neurology: Sequencing Panel Panel

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. Neurology: Sequencing Panel that also includes the following genes: UBE3A ADSL TUBB3 CC2D2A TMEM67 NPHP1 ADGRV1 CEP290 SHH POLG

More info about this panel

Epilepsy NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Epilepsy NGS Panel that also includes the following genes: MTHFR UBE3A PC ARG1 BTD ATPAF2 BCS1L C12orf65 ADSL PAX6

More info about this panel

Microcephaly NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Microcephaly NGS Panel that also includes the following genes: SLC25A19 DNM1L RARS2 WDR62 MRE11 VRK1 POMT1 MCPH1 CENPJ NDE1

More info about this panel

CDK5RAP2 Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the CDK5RAP2 gene.

More info about this panel

Comprehensive Epilepsy NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Comprehensive Epilepsy NGS Panel that also includes the following genes: MTHFR UBE3A PC ARG1 BTD ATPAF2 AUH BCS1L TWNK C12orf65

More info about this panel

Microcephaly and Pontocerebellar Hypoplasia Panel Panel

By Blueprint Genetics in Finland. Microcephaly and Pontocerebellar Hypoplasia Panel that also includes the following genes: RARS2 GFM1 WDR62 MRE11 PHGDH DYNC1H1 VRK1 POMT1 MCPH1 ASPM

More info about this panel

PRIMARY MICROCEPHALY (AUTOSOMAL RECESSIVE) (VERA MICROCEPHALY) Panel

By Laboratorio de Genetica Clinica SL in Spain. PRIMARY MICROCEPHALY (AUTOSOMAL RECESSIVE) (VERA MICROCEPHALY) that also includes the following genes: WDR62 MCPH1 ASPM CENPJ STIL CEP152 CDK5RAP2 SASS6 PHC1 CDK6

More info about this panel

Autosomal Recessive Primary Microcephaly , Panel Massive Sequencing (NGS) 8 Genes Panel

By Reference Laboratory Genetics in Spain. Autosomal Recessive Primary Microcephaly , Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: WDR62 MCPH1 ASPM CENPJ CDK5RAP2 CDK6 CEP135 KNL1

More info about this panel

Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders: gene sequencing panel Panel

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders: gene sequencing panel that also includes the following genes: WDR62 MCPH1 ASPM CENPJ STIL CEP152 CDK5RAP2 ATR RBBP8 PHC1

More info about this panel


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