PCS
MCID: PRM087
MIFTS: 29

Premature Chromatid Separation Trait (PCS)

Categories: Genetic diseases, Immune diseases, Reproductive diseases

Aliases & Classifications for Premature Chromatid Separation Trait

MalaCards integrated aliases for Premature Chromatid Separation Trait:

Name: Premature Chromatid Separation Trait 57 72 29 6 17 70
Pcs 57 72
Total Premature Chromatid Separation Trait 57
Chromatid Separation Trait, Premature 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
premature chromatid separation trait:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 176430
MedGen 41 C1864389
SNOMED-CT via HPO 68 263681008
UMLS 70 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) (Updated 20-May-2021)

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

UniProtKB/Swiss-Prot : 72 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 58)
# Related Disease Score Top Affiliating Genes
1 mosaic variegated aneuploidy syndrome 1 29.6 BUB1B-PAK6 BUB1B
2 mosaic variegated aneuploidy syndrome 29.1 BUB1B-PAK6 BUB1B
3 postcholecystectomy syndrome 10.9
4 nondisjunction 10.9
5 vipoma 10.9
6 pancreatic cholera 10.9
7 traumatic brain injury 10.2
8 cleft palate, isolated 10.2
9 microcephaly 10.2
10 chronic pain 10.2
11 esophageal cancer 10.0
12 autosomal recessive disease 10.0
13 post-traumatic stress disorder 10.0
14 back pain 10.0
15 brain injury 10.0
16 head injury 10.0
17 arteries, anomalies of 9.8
18 atherosclerosis susceptibility 9.8
19 prostate cancer 9.8
20 tobacco addiction 9.8
21 triiodothyronine receptor auxiliary protein 9.8
22 suppressor of tumorigenicity 3 9.8
23 premature centromere division 9.8
24 myeloma, multiple 9.8
25 sarcoma, synovial 9.8
26 cervical cancer 9.8
27 major depressive disorder 9.8
28 legionnaire disease 9.8
29 smoking as a quantitative trait locus 3 9.8
30 helix syndrome 9.8
31 lipoprotein quantitative trait locus 9.8
32 infective endocarditis 9.8
33 autism spectrum disorder 9.8
34 b-lymphoblastic leukemia/lymphoma 9.8
35 urolithiasis 9.8
36 long covid 9.8
37 endocarditis 9.8
38 amnestic disorder 9.8
39 respiratory failure 9.8
40 heart disease 9.8
41 autonomic neuropathy 9.8
42 plica syndrome 9.8
43 mental depression 9.8
44 rectum adenocarcinoma 9.8
45 synovitis 9.8
46 testicular cancer 9.8
47 heart valve disease 9.8
48 acute stress disorder 9.8
49 severe combined immunodeficiency 9.8
50 fibromyalgia 9.8

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

Human phenotypes related to Premature Chromatid Separation Trait:

31
# Description HPO Frequency HPO Source Accession
1 premature chromatid separation 31 HP:0200024

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

40
Brain, Heart, Cervix, Prostate

Publications for Premature Chromatid Separation Trait

Articles related to Premature Chromatid Separation Trait:

(show all 17)
# Title Authors PMID Year
1
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. 57 6
15475955 2004
2
Mosaic variegated aneuploidy with multiple congenital abnormalities: homozygosity for total premature chromatid separation trait. 61 57
9677059 1998
3
Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia. 6
21190457 2010
4
Premature chromatid separation in a woman with carcinoma in situ of the uterine cervix and in her son with keratoacanthoma. 57
17981217 2007
5
Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome. 6
16411201 2006
6
Premature chromatid separation (PCS) vs. premature centromere division (PCD). 57
15098246 2004
7
Prenatal diagnosis of a heterozygous carrier of premature chromatid separation (PCS) trait. 57
15098245 2004
8
Variegated aneuploidy related to premature centromere division (PCD) is expressed in vivo and is a cancer-prone disease. 6
11169558 2001
9
Child with mosaic variegated aneuploidy and embryonal rhabdomyosarcoma. 6
9916837 1999
10
"Premature anaphase" in a couple with recurrent miscarriages. 57
8225320 1993
11
A possible mosaic form of delayed centromere separation and aneuploidy. 57
1740325 1992
12
Parental centromere separation sequence and aneuploidy in the offspring. 57
2964398 1988
13
Premature centromere division (PCD): a dominantly inherited cytogenetic anomaly. 57
3653892 1987
14
Evidence for the repeated primary non-disjunction of chromosome 21 as a result of premature centromere division (PCD). 57
2935477 1986
15
Premature centromere division dominantly inherited in a subfertile family. 57
3780318 1986
16
A dominantly inherited cytogenetic anomaly: a possible cell division mutant. 57
6654324 1983
17
Non-random centromere division: a mechanism of non-disjunction causing aneuploidy? 57
149087 1978

Variations for Premature Chromatid Separation Trait

ClinVar genetic disease variations for Premature Chromatid Separation Trait:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BUB1B NM_001211.5(BUB1B):c.580C>T (p.Arg194Ter) SNV Affects 6760 rs28989186 GRCh37: 15:40468873-40468873
GRCh38: 15:40176672-40176672
2 BUB1B NM_001211.5(BUB1B):c.2530C>T (p.Leu844Phe) SNV Affects 6761 rs28989181 GRCh37: 15:40504844-40504844
GRCh38: 15:40212643-40212643
3 BUB1B , BUB1B-PAK6 NM_001211.5(BUB1B):c.2763G>C (p.Gln921His) SNV Affects 6762 rs28989183 GRCh37: 15:40509781-40509781
GRCh38: 15:40217580-40217580
4 BUB1B NM_001211.5(BUB1B):c.2208_2211dup (p.Ser738fs) Duplication Affects 6763 rs1392909108 GRCh37: 15:40501898-40501899
GRCh38: 15:40209697-40209698
5 BUB1B NM_001211.5(BUB1B):c.2441G>A (p.Arg814His) SNV Affects 6764 rs28989182 GRCh37: 15:40504755-40504755
GRCh38: 15:40212554-40212554
6 BUB1B , BUB1B-PAK6 NM_001128628.2(BUB1B-PAK6):c.-201+2974T>C SNV Affects 6765 rs28989185 GRCh37: 15:40512842-40512842
GRCh38: 15:40220641-40220641
7 BUB1B NM_001211.5(BUB1B):c.1649G>A (p.Arg550Gln) SNV Affects 6766 rs28989187 GRCh37: 15:40494810-40494810
GRCh38: 15:40202609-40202609
8 BUB1B NM_001211.5(BUB1B):c.1402-1G>T SNV Affects 6767 rs1566824774 GRCh37: 15:40492444-40492444
GRCh38: 15:40200243-40200243
9 BUB1B NM_001211.5(BUB1B):c.1833del (p.Phe611fs) Deletion Affects 6768 rs1566826570 GRCh37: 15:40498481-40498481
GRCh38: 15:40206280-40206280
10 BUB1B NM_001211.5(BUB1B):c.1402-5A>G SNV Affects 6769 rs1566824771 GRCh37: 15:40492440-40492440
GRCh38: 15:40200239-40200239
11 BUB1B NM_001211.5(BUB1B):c.2386-11A>G SNV Affects 30279 rs751421137 GRCh37: 15:40504689-40504689
GRCh38: 15:40212488-40212488
12 BUB1B NM_001211.6(BUB1B):c.473G>A (p.Trp158Ter) SNV Likely pathogenic 998296 GRCh37: 15:40468766-40468766
GRCh38: 15:40176565-40176565
13 BUB1B NM_001211.6(BUB1B):c.1043C>T (p.Ala348Val) SNV Uncertain significance 997622 GRCh37: 15:40477828-40477828
GRCh38: 15:40185627-40185627
14 BUB1B NM_001211.5(BUB1B):c.737G>A (p.Gly246Glu) SNV Uncertain significance 533905 rs1407334063 GRCh37: 15:40476070-40476070
GRCh38: 15:40183869-40183869
15 BUB1B NM_001211.5(BUB1B):c.805A>G (p.Asn269Asp) SNV Uncertain significance 133777 rs148159407 GRCh37: 15:40477419-40477419
GRCh38: 15:40185218-40185218
16 BUB1B NM_001211.5(BUB1B):c.1001C>T (p.Pro334Leu) SNV Uncertain significance 133779 rs141953425 GRCh37: 15:40477786-40477786
GRCh38: 15:40185585-40185585
17 BUB1B NM_001211.5(BUB1B):c.1361A>G (p.Lys454Arg) SNV Uncertain significance 533909 rs373256667 GRCh37: 15:40491888-40491888
GRCh38: 15:40199687-40199687
18 BUB1B NM_001211.5(BUB1B):c.1453G>A (p.Glu485Lys) SNV Uncertain significance 403748 rs770704003 GRCh37: 15:40492496-40492496
GRCh38: 15:40200295-40200295
19 BUB1B NM_001211.5(BUB1B):c.1478C>T (p.Thr493Ile) SNV Uncertain significance 133767 rs146795655 GRCh37: 15:40492521-40492521
GRCh38: 15:40200320-40200320
20 BUB1B NM_001211.5(BUB1B):c.1630C>T (p.Pro544Ser) SNV Uncertain significance 238662 rs138332995 GRCh37: 15:40494791-40494791
GRCh38: 15:40202590-40202590

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

72
# Symbol AA change Variation ID SNP ID
1 BUB1B p.Arg36Gln VAR_028921 rs534297115

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 mitotic spindle assembly checkpoint GO:0007094 8.62 BUB1B-PAK6 BUB1B

Sources for Premature Chromatid Separation Trait

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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