PCS
MCID: PRM087
MIFTS: 30

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 56 73 29 6 17 71
Pcs 56 73
Total Premature Chromatid Separation Trait 56
Chromatid Separation Trait, Premature 39

Characteristics:

OMIM:

56
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 56 176430
MedGen 41 C1864389
SNOMED-CT via HPO 68 263681008
UMLS 71 C1864389

Summaries for Premature Chromatid Separation Trait

OMIM : 56 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 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 cervix, and related phenotype is premature chromatid separation.

UniProtKB/Swiss-Prot : 73 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 410)
# Related Disease Score Top Affiliating Genes
1 mosaic variegated aneuploidy syndrome 1 29.0 BUB1B-PAK6 BUB1B
2 mosaic variegated aneuploidy syndrome 28.8 BUB1B-PAK6 BUB1B
3 pachyonychia congenita 1 12.2
4 pyruvate carboxylase deficiency 12.2
5 pachyonychia congenita 3 11.8
6 paramyotonia congenita of von eulenburg 11.8
7 prostate cancer 11.6
8 pachyonychia congenita 2 11.5
9 pachyonychia congenita 4 11.5
10 postcholecystectomy syndrome 11.5
11 thrombophilia due to protein c deficiency, autosomal recessive 11.4
12 dysplastic nevus syndrome 11.3
13 parathyroid carcinoma 11.3
14 protein c deficiency 11.2
15 nondisjunction 11.1
16 vipoma 11.1
17 pancreatic cholera 11.1
18 lymphomatoid papulosis 11.1
19 pheochromocytoma 10.5
20 adrenal gland pheochromocytoma 10.5
21 pancreatic cancer 10.2
22 cataract 10.2
23 breast cancer 10.2
24 ovarian cancer 10.1
25 lung cancer 10.1
26 cleft palate, isolated 10.1
27 wilms tumor 5 10.1
28 microcephaly 10.1
29 hydrocephalus 10.1
30 suppression of tumorigenicity 12 10.1
31 cutaneous t cell lymphoma 10.1
32 adenocarcinoma 10.1
33 teratoma 10.1
34 traumatic brain injury 10.1
35 rapidly involuting congenital hemangioma 10.1
36 colorectal cancer 10.0
37 cervical cancer 10.0
38 anxiety 10.0
39 suppression amblyopia 10.0
40 amblyopia 10.0
41 neutropenia 10.0
42 skin disease 10.0
43 glioma 10.0
44 glial tumor 10.0
45 vitiligo-associated multiple autoimmune disease susceptibility 6 10.0
46 lymphoma, hodgkin, classic 10.0
47 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0
48 infant gynecomastia 10.0
49 gynecomastia 10.0
50 severe combined immunodeficiency 10.0

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:

56
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

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
Cervix

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. 6 56
15475955 2004
2
Mosaic variegated aneuploidy with multiple congenital abnormalities: homozygosity for total premature chromatid separation trait. 56 61
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. 56
17981217 2007
5
Monoallelic BUB1B mutations and defective mitotic-spindle checkpoint in seven families with premature chromatid separation (PCS) syndrome. 6
16411201 2006
6
Prenatal diagnosis of a heterozygous carrier of premature chromatid separation (PCS) trait. 56
15098245 2004
7
Premature chromatid separation (PCS) vs. premature centromere division (PCD). 56
15098246 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. 56
8225320 1993
11
A possible mosaic form of delayed centromere separation and aneuploidy. 56
1740325 1992
12
Parental centromere separation sequence and aneuploidy in the offspring. 56
2964398 1988
13
Premature centromere division (PCD): a dominantly inherited cytogenetic anomaly. 56
3653892 1987
14
Premature centromere division dominantly inherited in a subfertile family. 56
3780318 1986
15
Evidence for the repeated primary non-disjunction of chromosome 21 as a result of premature centromere division (PCD). 56
2935477 1986
16
A dominantly inherited cytogenetic anomaly: a possible cell division mutant. 56
6654324 1983
17
Non-random centromere division: a mechanism of non-disjunction causing aneuploidy? 56
149087 1978

Variations for Premature Chromatid Separation Trait

ClinVar genetic disease variations for Premature Chromatid Separation Trait:

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

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

73
# 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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