CIT gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to CIT gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Agenesis of corpus callosum Very Common - Between 80% and 100% cases
Ventriculomegaly Very Common - Between 80% and 100% cases
Sloping forehead Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with CIT gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Hyperreflexia
  • Growth delay
  • Microcephaly
  • Short stature
  • Global developmental delay
  • Not very common - Between 30% and 50% cases

  • Failure to thrive
  • Abnormal facial shape
  • Spasticity

And 43 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CIT gene

Here you will find a list of rare diseases related to the CIT. 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

SOURCES: MESH OMIM ORPHANET

MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE; MCPH17


Description

Autosomal recessive primary microcephaly-17 (MCPH17) is a severe neurologic disorder characterized by very small head circumference that is apparent at birth and worsens over time (up to -12 SD). Affected individuals have delayed psychomotor development, intellectual disability, spasticity, axial hypotonia, and dysmorphic features. Brain imaging shows a simplified gyral pattern; more severe cases have lissencephaly with hypoplasia of the brainstem and cerebellum (summary by Harding et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Most common symptoms of MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE; MCPH17

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


More info about MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE; MCPH17

SOURCES: OMIM


Potential gene panels for CIT gene

Autosomal Recessive Primary Microcephaly Tier 2 panel Panel

United States.

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 panel

Microcephaly Deletion/Duplication Panel Panel

United States.

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 panel

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

United States.

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 panel

CIT Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CIT gene.

More info about this panel

Microcephaly primary autosomal recessive Panel

Spain.

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 panel


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