PSPH gene related symptoms and diseases
All the information presented here about the PSPH 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 PSPH gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Seizures | Very Common - Between 80% and 100% cases |
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Microcephaly | Very Common - Between 80% and 100% cases |
| Growth delay | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with PSPH gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Failure to thrive
- Intrauterine growth retardation
- Hypertonia
- Cerebral atrophy
- Postnatal growth retardation
- Brain atrophy
- Absence seizures
Rare diseases associated to PSPH gene
Here you will find a list of rare diseases related to the PSPH. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
3-PHOSPHOSERINE PHOSPHATASE DEFICIENCY
Description
3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).
Most common symptoms of 3-PHOSPHOSERINE PHOSPHATASE DEFICIENCY
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Growth delay
More info about 3-PHOSPHOSERINE PHOSPHATASE DEFICIENCY
Search interest in PSPH
Potential gene panels for PSPH gene
Epilepsy/Seizure Panel
United States.
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 panel United States.
Epilepsy Panel - Comprehensive Panel
Argentina.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" Epilepsy Panel - Comprehensive that also includes the following genes: SCN1A SCN1B SCN2A SCN8A SCN9A SLC2A1 SLC6A8 SLC9A6 SPTAN1 CDKL5
More info about this panel Argentina.
Phosphoserine phosphatase deficiency (sequence analysis of PSPH gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the PSPH gene.
More info about this panel Portugal.
Phosphoserine phosphatase deficiency (PSPH) Panel
Netherlands.
By VU University Medical Center Metabolic Unit, PX 1X 009
This panel specifically test the PSPH gene.
More info about this panel Netherlands.
PSP Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the PSPH gene.
More info about this panel Netherlands.
Serine synthesis defect panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Serine synthesis defect panel that also includes the following genes: PSAT1 PHGDH PSPH
More info about this panel Netherlands.
CentoICU platinum plus Panel
Germany.
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 panel Germany.
New Born testing (CentoICU) Panel
Germany.
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 panel Germany.
Phosphoserine phosphatase deficiency Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PSPH gene.
More info about this panel Germany.
Invitae Disorders of Serine Biosynthesis Panel Panel
United States.
By Invitae Invitae Disorders of Serine Biosynthesis Panel that also includes the following genes: PSAT1 PHGDH PSPH
More info about this panel United States.
Invitae Neurotransmitter Disorders Panel Panel
United States.
By Invitae Invitae Neurotransmitter Disorders Panel that also includes the following genes: SLC6A3 SLC6A5 SPR TH ARHGEF9 GPHN PSAT1 SLC25A22 ABAT DBH
More info about this panel United States.
Invitae Treatable Neurometabolic Disorders Panel Panel
United States.
By Invitae Invitae Treatable Neurometabolic Disorders Panel that also includes the following genes: SGSH SLC25A13 SLC25A15 SLC2A1 SLC6A8 BTD SPR TAT TH NPC2
More info about this panel United States.
PSPH Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PSPH gene.
More info about this panel United States.
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