Details of Disease

General Information of Disease (ID: DISBF447)

Disease Name Neu-Laxova syndrome 2
Synonyms
NLS2; NEU-Laxova syndrome 2; PSAT1 Neu-Laxova syndrome; Neu-Laxova syndrome caused by mutation in PSAT1; Neu-Laxova syndrome type 2; Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency; phosphoserine aminotransferase deficiency, prenatal form; Neu-Laxova syndrome 2
Definition Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PSAT1 gene.
Disease Hierarchy
DISKU3GJ: Neu-Laxova syndrome
DISBF447: Neu-Laxova syndrome 2
Disease Identifiers
MONDO ID
MONDO_0014466
UMLS CUI
C4015019
OMIM ID
616038
MedGen ID
863456
Orphanet ID
583602

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
PSAT1 DEBS17P Moderate Autosomal recessive [1]
PSAT1 DEBS17P Strong Biomarker [2]
------------------------------------------------------------------------------------
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PSAT1 OTVV1YV9 Moderate Autosomal recessive [1]
MFSD2A OTVG1VG0 Strong Genetic Variation [2]
------------------------------------------------------------------------------------

References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 C-terminal region of apoptin affects chicken anemia virus replication and virulence.Virol J. 2017 Feb 21;14(1):38. doi: 10.1186/s12985-017-0713-9.