PCS
MCID: PRM087
MIFTS: 36

Premature Chromatid Separation Trait (PCS)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Premature Chromatid Separation Trait

MalaCards integrated aliases for Premature Chromatid Separation Trait:

Name: Premature Chromatid Separation Trait 57 75 29 6 73
Pcs 57 75
Total Premature Chromatid Separation Trait 57
Chromatid Separation Trait, Premature 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
individuals with the pcs trait are phenotypically normal
affected females may have increased spontaneous abortions
reduced fertility
possible increase of aneuploidy in offspring
see also the homozygous state, mosaic variegated aneuploidy (mva, )
pcs is a distinct disorder from premature centromere division (pcd, ), which affects only the x chromosome


HPO:

32
premature chromatid separation trait:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 176430
MedGen 42 C1864389
SNOMED-CT via HPO 69 263681008
UMLS 73 C1864389

Summaries for Premature Chromatid Separation Trait

OMIM : 57 Premature chromatid separation consists of separate and splayed chromatids with discernible centromeres and involves all or most chromosomes of a metaphase. It is found in up to 2% of metaphases in cultured lymphocytes from approximately 40% of normal individuals. When PCS is present in 5% or more of cells, it is known as the 'heterozygous PCS trait' and has no obvious phenotypic effect, although some have reported decreased fertility (Gabarron et al., 1986). Inheritance is autosomal codominant (Kajii and Ikeuchi, 2004). See also 158250 for a possible inherited predisposition to nondisjunction, which may be a related phenomenon. (176430)

MalaCards based summary : Premature Chromatid Separation Trait, also known as pcs, is related to mosaic variegated aneuploidy syndrome 1 and pachyonychia congenita 1. An important gene associated with Premature Chromatid Separation Trait is BUB1B (BUB1 Mitotic Checkpoint Serine/Threonine Kinase B). Affiliated tissues include brain, heart and lung, and related phenotype is premature chromatid separation.

UniProtKB/Swiss-Prot : 75 Premature chromatid separation trait: Consists of separate and splayed chromatids with discernible centromeres and involves all or most chromosomes of a metaphase. It is found in up to 2% of metaphases in cultured lymphocytes from approximately 40% of normal individuals. When PCS is present in 5% or more of cells, it is known as the heterozygous PCS trait and has no obvious phenotypic effect, although some have reported decreased fertility. Inheritance is autosomal dominant.

Related Diseases for Premature Chromatid Separation Trait

Diseases related to Premature Chromatid Separation Trait via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 120)
# Related Disease Score Top Affiliating Genes
1 mosaic variegated aneuploidy syndrome 1 29.3 LOC107984763 BUB1B-PAK6 BUB1B
2 pachyonychia congenita 1 12.1
3 pyruvate carboxylase deficiency 12.0
4 pachyonychia congenita 3 11.6
5 prostate cancer 11.4
6 pachyonychia congenita 2 11.3
7 paramyotonia congenita of von eulenburg 11.3
8 pachyonychia congenita 4 11.3
9 thrombophilia due to protein c deficiency, autosomal recessive 11.3
10 dysplastic nevus syndrome 11.2
11 protein c deficiency 11.2
12 nondisjunction 11.0
13 vipoma 11.0
14 pancreatic cholera 11.0
15 lymphomatoid papulosis 11.0
16 wdha syndrome 11.0
17 lung cancer 10.1
18 segmental odontomaxillary dysplasia 10.1
19 breast cancer 10.1
20 ovarian cancer 10.1
21 pheochromocytoma 10.1
22 adenocarcinoma 10.0
23 esterase c 10.0
24 small cell cancer of the lung 10.0
25 myeloma, multiple 10.0
26 depression 10.0
27 pityriasis rubra pilaris 9.9
28 pancreatic cancer 9.9
29 spondyloocular syndrome 9.9
30 myelodysplastic syndrome 9.9
31 brain injury 9.9
32 pemphigus foliaceus 9.9
33 traumatic brain injury 9.9
34 lymphoma 9.9
35 heart disease 9.9
36 squamous cell carcinoma 9.9
37 teratoma 9.9
38 pain - chronic 9.9
39 alzheimer disease 9.7
40 total anomalous pulmonary venous return 1 9.7
41 atherosclerosis susceptibility 9.7
42 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.7
43 esophageal cancer 9.7
44 ichthyosis bullosa of siemens 9.7
45 pulmonary hypertension, primary, 1 9.7
46 rheumatoid arthritis 9.7
47 ring dermoid of cornea 9.7
48 suppressor of tumorigenicity 3 9.7
49 premature centromere division 9.7
50 disorganization, mouse, homolog of 9.7

Graphical network of the top 20 diseases related to Premature Chromatid Separation Trait:



Diseases related to Premature Chromatid Separation Trait

Symptoms & Phenotypes for Premature Chromatid Separation Trait

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
premature chromatid separation (pcs) observed in 5% to 50% cultured lymphocytes during metaphase
pcs shows separate and splayed chromatids with discernible centromeres
pcs involves most of all chromosomes of a metaphase
shortened metaphase


Clinical features from OMIM:

176430

Human phenotypes related to Premature Chromatid Separation Trait:

32
# Description HPO Frequency HPO Source Accession
1 premature chromatid separation 32 HP:0200024

Drugs & Therapeutics for Premature Chromatid Separation Trait

Search Clinical Trials , NIH Clinical Center for Premature Chromatid Separation Trait

Genetic Tests for Premature Chromatid Separation Trait

Genetic tests related to Premature Chromatid Separation Trait:

# Genetic test Affiliating Genes
1 Premature Chromatid Separation Trait 29 BUB1B

Anatomical Context for Premature Chromatid Separation Trait

MalaCards organs/tissues related to Premature Chromatid Separation Trait:

41
Brain, Heart, Lung, Prostate, Kidney, Spinal Cord, T Cells

Publications for Premature Chromatid Separation Trait

Articles related to Premature Chromatid Separation Trait:

(show top 50) (show all 299)
# Title Authors Year
1
Research on mechanism of PCS in damaging vascular endothelial cells and promoting formation of atherosclerosis via TLR4/TREM-1. ( 30468503 )
2018
2
Superior integrin activating capacity and higher adhesion to fibrinogen matrix in buffy coat-derived platelet concentrates (PCs) compared to PRP-PCs. ( 29292029 )
2018
3
Postconcussive symptoms (PCS) following combat-related traumatic brain injury (TBI) in Veterans with posttraumatic stress disorder (PTSD): Influence of TBI, PTSD, and depression on symptoms measured by the Neurobehavioral Symptom Inventory (NSI). ( 29554536 )
2018
4
Two Histidines in an α-Helix: A Rigid Co2+ -Binding Motif for PCS Measurements by NMR Spectroscopy. ( 29624837 )
2018
5
Prenatal diagnosis of premature chromatid separation/mosaic variegated aneuploidy (PCS/MVA) syndrome. ( 29673003 )
2018
6
Development and Validation of an Algorithm to Classify as Equivalent the Procedures in ICD-10-PCS That Differ Only by Laterality. ( 29677065 )
2018
7
mRNA Analysis of Genes Encoded with Phytochelatin Synthase (PCS) in Rice Seedlings Exposed to Chromium: The Role of Phytochelatins in Cr Detoxification. ( 29785647 )
2018
8
Conversion of the Agency for Healthcare Research and Quality's Quality Indicators from ICD-9-CM to ICD-10-CM/PCS: The Process, Results, and Implications for Users. ( 29846001 )
2018
9
New Lanthanide Chelating Tags for PCS NMR Spectroscopy with Reduction Stable, Rigid Linkers for Fast and Irreversible Conjugation to Proteins. ( 30160477 )
2018
10
Investigating the validity and reliability of Electrovestibulography (EVestG) for detecting post-concussion syndrome (PCS) with and without comorbid depression. ( 30262840 )
2018
11
Quantitative EEG Neurometric Analysis-Guided Neurofeedback Treatment in Postconcussion Syndrome (PCS): Forty Cases. How Is Neurometric Analysis Important for the Treatment of PCS and as a Biomarker? ( 27354361 )
2017
12
Overexpression of phytochelatin synthase (pcs) enhances abiotic stress tolerance by altering the proteome of transformed Anabaena sp. PCC 7120. ( 28000119 )
2017
13
PoLA/CFPiP/PCS Guidelines for the Management of Dyslipidaemias for Family Physicians 2016. ( 28144253 )
2017
14
The social benefits of WEEE re-use schemes. A cost benefit analysis for PCs in Spain. ( 28318965 )
2017
15
Extracellular HSP70/HSP70-PCs regulate hepatocarcinoma cell migration and invasion via RhoA. ( 28454219 )
2017
16
The capacity of ICD-10-CM/PCS to characterize surgical care. ( 28538626 )
2017
17
Uncommon combinations of ICD10-PCS or ICD-9-CM operative procedure codes account for most inpatient surgery at half of Texas hospitals. ( 28802614 )
2017
18
Improvements in balance control in individuals with PCS detected following vestibular training: A case study. ( 28822327 )
2017
19
The opinion of Turkish cardiologists on current malpractice system and an alternative patient compensation system proposal: PCS study group. ( 28990944 )
2017
20
Quantifying the potential export flows of used electronic products in Macau: a case study of PCs. ( 29022173 )
2017
21
The Heart of the Matter: ICD-10-PCS Cardiac Coding. ( 29400939 )
2017
22
Achieving Logical Equivalence between SNOMED CT and ICD-10-PCS Surgical Procedures. ( 29854138 )
2017
23
Osteogenic Potential of Human Oral-Periosteal Cells (PCs) Isolated From Different Oral Origin: An In Vitro Study. ( 26206324 )
2016
24
Randomised controlled trial of temoporfin photodynamic therapy plus chemotherapy in nonresectable biliary carcinoma--PCS Nordic study. ( 26415549 )
2016
25
PCR method for the rapid detection and discrimination of Legionella spp. based on the amplification of pcs, pmtA, and 16S rRNA genes. ( 26423783 )
2016
26
The hybrid personal cooling system (PCS) could effectively reduce the heat strain while exercising in a hot and moderate humid environment. ( 26457872 )
2016
27
Evaluation of kojic acid production in a repeated-batch PCS biofilm reactor. ( 26657710 )
2016
28
A method for modeling co-occurrence propensity of clinical codes with application to ICD-10-PCS auto-coding. ( 26911826 )
2016
29
[Formula: see text] Effects of screening for postconcussive syndrome (PCS) on PCS symptom self-report and neuropsychological test performance. ( 26934914 )
2016
30
Exploring the FY 2016 ICD-10-CM/PCS Updates. ( 26939381 )
2016
31
Putting the ICD-10-CM/PCS GEMs into Practice (Updated). ( 27055341 )
2016
32
Ambient-Temperature Synthesis of 2-Phosphathioethynolate, PCS-, and the Ligand Properties of ECX- (E = N, P; X = O, S). ( 27134553 )
2016
33
Finding the New Normal with ICD-10-CM/PCS. ( 27214941 )
2016
34
A fast PC algorithm for high dimensional causal discovery with multi-core PCs. ( 27429444 )
2016
35
Guidelines for Achieving a Compliant ICD-10 PCS Query. ( 27476219 )
2016
36
Dissecting the Operative Report for Accurate ICD-10-PCS Code Assignment. ( 27476220 )
2016
37
Quality Queries for Quality ICD-10-PCS Codes. ( 27476221 )
2016
38
CRISPR-PCS: a powerful new approach to inducing multiple chromosome splitting in Saccharomyces cerevisiae. ( 27530680 )
2016
39
A new carbamidemethyl-linked lanthanoid chelating tag for PCS NMR spectroscopy of proteins in living HeLa cells. ( 27631409 )
2016
40
Ab initio ro-vibronic spectroscopy of the Π2 PCS radical and Σ+1PCS- anion. ( 27984883 )
2016
41
Leveraging Lexical Matching and Ontological Alignment to Map SNOMED CT Surgical Procedures to ICD-10-PCS. ( 28269853 )
2016
42
Back to the Basics on ICD-10-PCS Spinal Fusion Coding. ( 29431968 )
2016
43
FY 2017 Updates to ICD-10-PCS. ( 29437319 )
2016
44
Applying a traumatic stress approach to understanding PCS following pediatric mild TBI. ( 25103672 )
2015
45
Regulation profile of phosphatidylcholines (PCs) and lysophosphatidylcholines (LPCs) components towards UDP-glucuronosyltransferases (UGTs) isoforms. ( 25259654 )
2015
46
Rasch Analysis of the Italian version of Pain Catastrophizing Scale (PCS-I). ( 25408121 )
2015
47
Cultured chondrocyte and porcine cartilage-derived substance (PCS) construct as a possible dorsal augmentation material in rhinoplasty: A preliminary animal study. ( 25735721 )
2015
48
Use of other treatment before hysterectomy for benign conditions: what about PCS and CD10? ( 25757632 )
2015
49
Expression of Caenorhabditis elegans PCS in the AtPCS1-deficient Arabidopsis thaliana cad1-3 mutant separates the metal tolerance and non-host resistance functions of phytochelatin synthases. ( 25764348 )
2015
50
Meta-Analysis of the Associations of p-Cresyl Sulfate (PCS) and Indoxyl Sulfate (IS) with Cardiovascular Events and All-Cause Mortality in Patients with Chronic Renal Failure. ( 26173073 )
2015

Variations for Premature Chromatid Separation Trait

UniProtKB/Swiss-Prot genetic disease variations for Premature Chromatid Separation Trait:

75
# Symbol AA change Variation ID SNP ID
1 BUB1B p.Arg36Gln VAR_028921 rs534297115

ClinVar genetic disease variations for Premature Chromatid Separation Trait:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 BUB1B NM_001211.5(BUB1B): c.580C> T (p.Arg194Ter) single nucleotide variant Pathogenic rs28989186 GRCh37 Chromosome 15, 40468873: 40468873
2 BUB1B NM_001211.5(BUB1B): c.580C> T (p.Arg194Ter) single nucleotide variant Pathogenic rs28989186 GRCh38 Chromosome 15, 40176672: 40176672
3 BUB1B NM_001211.5(BUB1B): c.2530C> T (p.Leu844Phe) single nucleotide variant Pathogenic rs28989181 GRCh37 Chromosome 15, 40504844: 40504844
4 BUB1B NM_001211.5(BUB1B): c.2530C> T (p.Leu844Phe) single nucleotide variant Pathogenic rs28989181 GRCh38 Chromosome 15, 40212643: 40212643
5 BUB1B NM_001211.5(BUB1B): c.2763G> C (p.Gln921His) single nucleotide variant Uncertain significance rs28989183 GRCh37 Chromosome 15, 40509781: 40509781
6 BUB1B NM_001211.5(BUB1B): c.2763G> C (p.Gln921His) single nucleotide variant Uncertain significance rs28989183 GRCh38 Chromosome 15, 40217580: 40217580
7 BUB1B NM_001211.5: c.2208_2211dupGTTA duplication Pathogenic
8 BUB1B NM_001211.5(BUB1B): c.2441G> A (p.Arg814His) single nucleotide variant Uncertain significance rs28989182 GRCh37 Chromosome 15, 40504755: 40504755
9 BUB1B NM_001211.5(BUB1B): c.2441G> A (p.Arg814His) single nucleotide variant Uncertain significance rs28989182 GRCh38 Chromosome 15, 40212554: 40212554
10 BUB1B NM_001211.5(BUB1B): c.3035T> C (p.Leu1012Pro) single nucleotide variant Pathogenic rs28989185 GRCh37 Chromosome 15, 40512842: 40512842
11 BUB1B NM_001211.5(BUB1B): c.3035T> C (p.Leu1012Pro) single nucleotide variant Pathogenic rs28989185 GRCh38 Chromosome 15, 40220641: 40220641
12 BUB1B NM_001211.5(BUB1B): c.1649G> A (p.Arg550Gln) single nucleotide variant Benign rs28989187 GRCh37 Chromosome 15, 40494810: 40494810
13 BUB1B NM_001211.5(BUB1B): c.1649G> A (p.Arg550Gln) single nucleotide variant Benign rs28989187 GRCh38 Chromosome 15, 40202609: 40202609
14 BUB1B NM_001211.5(BUB1B): c.1402-1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 15, 40492444: 40492444
15 BUB1B NM_001211.5(BUB1B): c.1402-1G> T single nucleotide variant Pathogenic GRCh38 Chromosome 15, 40200243: 40200243
16 BUB1B NM_001211.5: c.1833delT deletion Pathogenic
17 BUB1B NM_001211.5(BUB1B): c.1402-5A> G single nucleotide variant Pathogenic GRCh38 Chromosome 15, 40200239: 40200239
18 BUB1B NM_001211.5(BUB1B): c.1402-5A> G single nucleotide variant Pathogenic GRCh37 Chromosome 15, 40492440: 40492440
19 BUB1B NM_001211.5(BUB1B): c.2386-11A> G single nucleotide variant Pathogenic rs751421137 GRCh37 Chromosome 15, 40504689: 40504689
20 BUB1B NM_001211.5(BUB1B): c.2386-11A> G single nucleotide variant Pathogenic rs751421137 GRCh38 Chromosome 15, 40212488: 40212488

Expression for Premature Chromatid Separation Trait

Search GEO for disease gene expression data for Premature Chromatid Separation Trait.

Pathways for Premature Chromatid Separation Trait

GO Terms for Premature Chromatid Separation Trait

Biological processes related to Premature Chromatid Separation Trait according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.16 BUB1B BUB1B-PAK6
2 protein phosphorylation GO:0006468 8.96 BUB1B BUB1B-PAK6
3 mitotic spindle assembly checkpoint GO:0007094 8.62 BUB1B BUB1B-PAK6

Molecular functions related to Premature Chromatid Separation Trait according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 kinase activity GO:0016301 9.16 BUB1B BUB1B-PAK6
2 protein kinase activity GO:0004672 8.96 BUB1B BUB1B-PAK6
3 protein serine/threonine kinase activity GO:0004674 8.62 BUB1B BUB1B-PAK6

Sources for Premature Chromatid Separation Trait

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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