MCID: SRN001
MIFTS: 21

Serine Deficiency

Categories: Metabolic diseases

Aliases & Classifications for Serine Deficiency

MalaCards integrated aliases for Serine Deficiency:

Name: Serine Deficiency 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:0050721

Summaries for Serine Deficiency

Disease Ontology : 12 An amino acid metabolic disorder that has material basis in defects in the biosynthesis of the amino acid L-serine.

MalaCards based summary : Serine Deficiency is related to phosphoserine aminotransferase deficiency and phosphoserine phosphatase deficiency. An important gene associated with Serine Deficiency is PHGDH (Phosphoglycerate Dehydrogenase), and among its related pathways/superpathways are Viral mRNA Translation and Carbon metabolism. Affiliated tissues include liver and spinal cord, and related phenotype is Decreased interferon-beta reporter expression.

Wikipedia : 76 Serine (symbol Ser or S) is an �?-amino acid that is used in the biosynthesis of proteins. It contains... more...

Related Diseases for Serine Deficiency

Diseases related to Serine Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 phosphoserine aminotransferase deficiency 31.4 PHGDH PSAT1 PSPH
2 phosphoserine phosphatase deficiency 31.3 PHGDH PSPH
3 phosphoglycerate dehydrogenase deficiency 11.1
4 neu-laxova syndrome 1 9.9 PHGDH PSAT1
5 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
6 liver disease 9.7
7 fatty liver disease 9.7
8 microcephaly 9.4 PHGDH PSAT1 SLC1A4 SUOX

Graphical network of the top 20 diseases related to Serine Deficiency:



Diseases related to Serine Deficiency

Symptoms & Phenotypes for Serine Deficiency

GenomeRNAi Phenotypes related to Serine Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased interferon-beta reporter expression GR00307-A 8.62 SLC1A4 SUOX

Drugs & Therapeutics for Serine Deficiency

Search Clinical Trials , NIH Clinical Center for Serine Deficiency

Genetic Tests for Serine Deficiency

Anatomical Context for Serine Deficiency

MalaCards organs/tissues related to Serine Deficiency:

41
Liver, Spinal Cord

Publications for Serine Deficiency

Articles related to Serine Deficiency:

(show all 15)
# Title Authors Year
1
Serine Deficiency in a Child with Neurological Presentation, Hearing Loss, and Multiple Congenital Anomalies. ( 29703746 )
2018
2
Two new cases of serine deficiency disorders treated with l-serine. ( 26610677 )
2016
3
Adaptive response to l-serine deficiency is mediated by p38 MAPK activation via 1-deoxysphinganine in normal fibroblasts. ( 27239443 )
2016
4
L-Serine deficiency elicits intracellular accumulation of cytotoxic deoxy-sphingolipids and lipid body formation. ( 25903138 )
2015
5
Genome-scale metabolic modelling of hepatocytes reveals serine deficiency in patients with non-alcoholic fatty liver disease. ( 24419221 )
2014
6
D-serine deficiency attenuates the behavioral and cellular effects induced by the hallucinogenic 5-HT2A receptor agonist DOI. ( 24269270 )
2014
7
An update on serine deficiency disorders. ( 23463425 )
2013
8
L-serine deficiency caused by genetic Phgdh deletion leads to robust induction of 4E-BP1 and subsequent repression of translation initiation in the developing central nervous system. ( 23350942 )
2013
9
L-serine synthesis in the central nervous system: a review on serine deficiency disorders. ( 19963421 )
2010
10
Fatal cerebral edema associated with serine deficiency in CSF. ( 20300853 )
2010
11
Impaired neurogenesis in embryonic spinal cord of Phgdh knockout mice, a serine deficiency disorder model. ( 19114063 )
2009
12
Inactivation of the 3-phosphoglycerate dehydrogenase gene in mice: changes in gene expression and associated regulatory networks resulting from serine deficiency. ( 18228065 )
2008
13
Treatment with amino acids in serine deficiency disorders. ( 16763900 )
2006
14
Serine-deficiency syndromes. ( 15021249 )
2004
15
Continuing education in neurometabolic disorders--serine deficiency disorders. ( 10222452 )
1999

Variations for Serine Deficiency

Expression for Serine Deficiency

Search GEO for disease gene expression data for Serine Deficiency.

Pathways for Serine Deficiency

Pathways related to Serine Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.03 PHGDH PSAT1 PSPH SUOX
2
Show member pathways
11.76 PHGDH PSAT1 PSPH
3
Show member pathways
11.48 PHGDH PSAT1 PSPH
4
Show member pathways
10.85 PHGDH PSAT1 PSPH
5
Show member pathways
10.41 PHGDH PSAT1 PSPH

GO Terms for Serine Deficiency

Biological processes related to Serine Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 L-serine metabolic process GO:0006563 9.16 PHGDH PSPH
2 cellular amino acid biosynthetic process GO:0008652 9.13 PHGDH PSAT1 PSPH
3 L-serine biosynthetic process GO:0006564 8.8 PHGDH PSAT1 PSPH

Sources for Serine Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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