PHC1 gene related symptoms and diseases
All the information presented here about the PHC1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PHC1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Short stature | Very Common - Between 80% and 100% cases |
| Microcephaly | Very Common - Between 80% and 100% cases |
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Unilateral renal agenesis | Uncommon - Between 30% and 50% cases |
| Sloping forehead | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with PHC1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Spastic tetraplegia
- Heterotopia
- Pachygyria
- Hypergonadotropic hypogonadism
- Mild microcephaly
- Chromosome breakage
- Tetraplegia
- Abnormal cortical bone morphology
And 20 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PHC1 gene
Here you will find a list of rare diseases related to the PHC1. 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
MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE; MCPH11
Most common symptoms of MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE; MCPH11
- Short stature
- Microcephaly
More info about MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE; MCPH11
SOURCES: OMIM
Search interest in PHC1
Potential gene panels for PHC1 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 United States.
Microcephaly Sequencing Panel Panel
United States.
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 panel United States.
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 United States.
PHC1 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the PHC1 gene.
More info about this panel Germany.
Microcephaly, autosomal recessive type 11 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PHC1 gene.
More info about this panel Germany.
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 Spain.
PRIMARY MICROCEPHALY (AUTOSOMAL RECESSIVE) (VERA MICROCEPHALY) Panel
Spain.
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 panel Spain.
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders: gene sequencing panel Panel
Canada.
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
More info about this panel Canada.
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