MCID: SRN001
MIFTS: 27

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 Metabolism and Viral mRNA Translation. Affiliated tissues include liver and spinal cord, and related phenotype is nervous system.

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

Related Diseases for Serine Deficiency

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



Diseases related to Serine Deficiency

Symptoms & Phenotypes for Serine Deficiency

MGI Mouse Phenotypes related to Serine Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.28 DDC GLUL NDE1 PHGDH PSAT1 PSPH

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:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 BCAT1 DDC GLUL PHGDH PSAT1 PSPH
2
Show member pathways
13.52 BCAT1 DDC GLUL PHGDH PSAT1 PSPH
3 12.33 DDC SLC1A4 SRR SYP
4 12.14 BCAT1 GLUL PHGDH SHMT1 SLC2A1
5
Show member pathways
11.77 PHGDH PSAT1 PSPH SHMT1
6 11.59 BCAT1 DDC GLUL
7 11.52 BCAT1 SHMT1 SLC2A1
8
Show member pathways
11.49 BCAT1 GLUL PHGDH PSAT1 PSPH SHMT1
9
Show member pathways
11.07 GLUL PHGDH PSAT1 PSPH
10
Show member pathways
11.07 PHGDH PSAT1 PSPH SHMT1 SRR
11 10.97 GLUL SHMT1
12 10.68 SLC2A1 TALDO1
13
Show member pathways
10.25 SHMT1 SRR

GO Terms for Serine Deficiency

Cellular components related to Serine Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.7 BCAT1 DDC FSCN1 GLUL NDE1 PHGDH
2 myelin sheath GO:0043209 9.33 FSCN1 GLUL PHGDH
3 extracellular exosome GO:0070062 9.28 DDC FSCN1 GLUL PHGDH PSAT1 SHMT1

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

# Name GO ID Score Top Affiliating Genes
1 cell proliferation GO:0008283 9.62 BCAT1 ELN FSCN1 GLUL
2 cellular amino acid biosynthetic process GO:0008652 9.35 BCAT1 GLUL PHGDH PSAT1 PSPH
3 L-serine biosynthetic process GO:0006564 9.33 PHGDH PSAT1 PSPH
4 glycine metabolic process GO:0006544 9.26 PHGDH SHMT1
5 L-serine metabolic process GO:0006563 8.92 PHGDH PSPH SHMT1 SRR

Molecular functions related to Serine Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 magnesium ion binding GO:0000287 9.58 GLUL PSPH SRR
2 lyase activity GO:0016829 9.54 DDC GLUL SRR
3 catalytic activity GO:0003824 9.46 BCAT1 GLUL SHMT1 SRR
4 identical protein binding GO:0042802 9.43 BCAT1 GLUL NDE1 SHMT1 SLC2A1 SYP
5 transaminase activity GO:0008483 9.32 BCAT1 PSAT1
6 amino acid binding GO:0016597 9.26 DDC SHMT1
7 pyridoxal phosphate binding GO:0030170 8.8 DDC SHMT1 SRR

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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