Rare Infectious Disease News

Disease Profile

Phosphoserine aminotransferase deficiency

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

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ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

PSAT deficiency

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 284417

Definition
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.

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Congenital microcephaly
0011451
Failure to thrive in infancy
Faltering weight in infancy
Weight faltering in infancy

[ more ]

0001531
Hyperglycinemia
Elevated blood glycine levels
0002154
Hyposerinemia
Low blood serine levels
0012279
Inappropriate crying
0030215
Profound global developmental delay
0012736
30%-79% of people have these symptoms
Cerebral white matter hypoplasia
0012430
Hyperreflexia
Increased reflexes
0001347
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Infantile axial hypotonia
0009062
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Thickened nuchal skin fold
Thickened skin folds of neck
Thickened skin over the neck

[ more ]

0000474
5%-29% of people have these symptoms
Ankle flexion contracture
0006466
Bilateral talipes equinovarus
Club foot on both sides
0001776
Cerebellar vermis hypoplasia
0001320
Craniosynostosis
0001363
Cyanotic episode
0200048
Delayed myelination
0012448
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root

[ more ]

0005280
Dilation of lateral ventricles
0006956
EEG with focal sharp waves
0011196
EEG with polyspike wave complexes
0002392
Epileptic spasm
0011097
Gastrostomy tube feeding in infancy
0011471
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Ichthyosis
0008064
Knee flexion contracture
0006380
Lissencephaly
Fewer or absent grooves in brain
0001339
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Myoclonus
0001336
Nasogastric tube feeding
0040288
Paroxysmal involuntary eye movements
0007704
Short neck
Decreased length of neck
0000470
Simplified gyral pattern
0009879
Sloping forehead
Inclined forehead
Receding forehead

[ more ]

0000340
Spastic tetraparesis
0001285
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Feeding difficulties in infancy
0008872
Global developmental delay
0001263
Hypertonia
0001276
Hypoglycinemia
Low blood glycine levels
0012277
Infantile onset
Onset in first year of life
Onset in infancy

[ more ]

0003593
Postnatal microcephaly
0005484
Psychomotor retardation
0025356
Seizure
0001250

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.