MCID: PRM087
MIFTS: 25

Premature Chromatid Separation Trait

Categories: Genetic 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). 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 79)
# Related Disease Score Top Affiliating Genes
1 mosaic variegated aneuploidy syndrome 1 27.5 BUB1B BUB1B-PAK6 LOC107984763
2 pachyonychia congenita 1 11.9
3 pyruvate carboxylase deficiency 11.9
4 prostate cancer 11.3
5 pachyonychia congenita 2 11.2
6 paramyotonia congenita of von eulenburg 11.2
7 pachyonychia congenita 3 11.2
8 pachyonychia congenita 4 11.2
9 thrombophilia due to protein c deficiency, autosomal recessive 11.1
10 dysplastic nevus syndrome 11.0
11 protein c deficiency 11.0
12 nondisjunction 10.9
13 prostatitis 10.3
14 breast cancer 10.0
15 thyroiditis 10.0
16 lung cancer 10.0
17 ovarian cancer 9.9
18 pheochromocytoma 9.9
19 small cell cancer of the lung 9.9
20 myeloma, multiple 9.9
21 lymphoma 9.9
22 endotheliitis 9.9
23 pancreatic cancer 9.8
24 suppression of tumorigenicity 12 9.8
25 myelodysplastic syndrome 9.8
26 esophagitis 9.8
27 squamous cell carcinoma 9.8
28 adenocarcinoma 9.8
29 teratoma 9.8
30 laryngitis 9.8
31 pancreatitis 9.8
32 alzheimer disease 9.6
33 total anomalous pulmonary venous return 1 9.6
34 esophageal cancer 9.6
35 premature centromere division 9.6
36 lymphoma, hodgkin, classic 9.6
37 hydrocephalus, normal-pressure 9.6
38 mycosis fungoides 9.6
39 retinitis pigmentosa 9.6
40 asthma 9.6
41 leber congenital amaurosis 4 9.6
42 endometrial cancer 9.6
43 peripheral vascular disease 9.6
44 b-cell lymphomas 9.6
45 hydrocephalus 9.6
46 phaeochromocytoma 9.6
47 infective endocarditis 9.6
48 aphasia 9.6
49 cutaneous t cell lymphoma 9.6
50 estrogen-receptor negative breast cancer 9.6

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

Publications for Premature Chromatid Separation Trait

Articles related to Premature Chromatid Separation Trait:

# Title Authors Year
1
Mosaic variegated aneuploidy with multiple congenital abnormalities: homozygosity for total premature chromatid separation trait. ( 9677059 )
1998

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 11)
# 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 BUB1B, 4-BP INS, 2211GTTA insertion Pathogenic
6 BUB1B NM_001211.5(BUB1B): c.3035T> C (p.Leu1012Pro) single nucleotide variant Pathogenic rs28989185 GRCh37 Chromosome 15, 40512842: 40512842
7 BUB1B NM_001211.5(BUB1B): c.3035T> C (p.Leu1012Pro) single nucleotide variant Pathogenic rs28989185 GRCh38 Chromosome 15, 40220641: 40220641
8 BUB1B BUB1B, IVS10, G-T, -1 single nucleotide variant Pathogenic
9 BUB1B BUB1B, 1-BP DEL, 1833T deletion Pathogenic
10 BUB1B BUB1B, IVS10AS, A-G, -5 single nucleotide variant Pathogenic
11 BUB1B BUB1B, IVS18AS, A-G, -11 single nucleotide variant Pathogenic

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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