Phosphoserine Aminotransferase Deficiency
Description
Phosphoserine aminotransferase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically in the two reported cases to date by acquired microcephaly, psychomotor retardation, intractable seizures and hypertonia.
Clinical Features
Top most frequent phenotypes and symptoms related to Phosphoserine Aminotransferase Deficiency
- Seizures
- Global developmental delay
- Microcephaly
- Feeding difficulties
- Hypertonia
- Myoclonus
- Feeding difficulties in infancy
- Cerebellar vermis hypoplasia
- Postnatal microcephaly
- Hyposerinemia
And another 1 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Phosphoserine Aminotransferase Deficiency Is also known as psat deficiency.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Phosphoserine Aminotransferase Deficiency Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Epilepsy Panel - Comprehensive.
By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina).
SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SLC6A8, SLC9A6, SPTAN1, CDKL5, STXBP1, SUOX, SYNGAP1, TCF4, TSC1, TSC2, UBE3A, CNTNAP2, CERS1, PCDH19 , (...)
View the complete list with 49 more genes
Specificity
2 %
Genes
100 % |
Phosphoserine aminotransferase deficiency (sequence analysis of PSAT1 gene).
By CGC Genetics (Portugal).
PSAT1
Specificity
100 %
Genes
100 % |
Hereditary ichthyosis (NGS panel of 53 genes).
By CGC Genetics (Portugal).
SLC27A4, SNAP29, ST14, STIM1, STS, TGM1, TGM5, SHOC2, SPINK5, SLURP1, RIN2, PSAT1, POMP, VIPAS39, SUMF1, PNPLA1, SRD5A3, PIGL
Specificity
6 %
Genes
100 % |
Hereditary ichthyosis (NGS panel of 53 genes).
By CGC Genetics (Portugal).
SLC27A4, SNAP29, ST14, STIM1, STS, TGM1, TGM5, SHOC2, SPINK5, SLURP1, RIN2, PSAT1, POMP, VIPAS39, SUMF1, PNPLA1, SRD5A3, PIGL
Specificity
6 %
Genes
100 % |
Neu-Laxova syndrome NGS panel.
By Connective Tissue Gene Tests (United States).
PSAT1, PHGDH
Specificity
50 %
Genes
100 % |
Neu-Laxova syndrome Comprehensive panel.
By Connective Tissue Gene Tests (United States).
PSAT1, PHGDH
Specificity
50 %
Genes
100 % |
Neu-Laxova syndrome Deletion / Duplication panel.
By Connective Tissue Gene Tests (United States).
PSAT1, PHGDH
Specificity
50 %
Genes
100 % |
Neurogenetic Disorders - panels.
By MGZ Medical Genetics Center (Germany).
BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)
View the complete list with 572 more genes
Specificity
1 %
Genes
100 % |
You can get up to 11 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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