MGRISCE2
MCID: MCR365
MIFTS: 22

Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 (MGRISCE2)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Microcephaly, Growth Restriction, and Increased Sister Chromatid...

MalaCards integrated aliases for Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2:

Name: Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 58 76 6
Mgrisce2 58 76
Congenital Multiple Café-Au-Lait Macules-Increased Sister Chromatid Exchange Syndrome 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 618097
MeSH 45 D049914
Orphanet 60 ORPHA508512
MedGen 43 CN253708

Summaries for Microcephaly, Growth Restriction, and Increased Sister Chromatid...

OMIM : 58 MGRISCE2 is an autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies. The disorder results from defective DNA decatenation. The pathogenesis of the disorder is similar to that of Bloom syndrome (BLM; 210900), but patients with mutations in the TOP3A gene do not have a malar rash (summary by Martin et al., 2018). For a discussion of genetic heterogeneity of MGRISCE, see Bloom syndrome (BLM; MGRISCE1; 210900) (618097)

MalaCards based summary : Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2, is also known as mgrisce2. An important gene associated with Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 is TOP3A (DNA Topoisomerase III Alpha), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Regulation of TP53 Activity. Affiliated tissues include skin and skeletal muscle, and related phenotypes are intrauterine growth retardation and cafe-au-lait spot

UniProtKB/Swiss-Prot : 76 Microcephaly, growth restriction, and increased sister chromatid exchange 2: An autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies.

Related Diseases for Microcephaly, Growth Restriction, and Increased Sister Chromatid...

Symptoms & Phenotypes for Microcephaly, Growth Restriction, and Increased Sister Chromatid...

Human phenotypes related to Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2:

33
# Description HPO Frequency HPO Source Accession
1 intrauterine growth retardation 33 HP:0001511
2 cafe-au-lait spot 33 HP:0000957

Symptoms via clinical synopsis from OMIM:

58
Growth Height:
short stature

Muscle Soft Tissue:
decreased subcutaneous fat

Immunology:
recurrent infections (in some patients)

Abdomen Gastrointestinal:
gastroesophageal reflux (in some patients)

Head And Neck Head:
microcephaly (up to -5.7 sd)

Neurologic Central Nervous System:
delayed development, mild (in some patients)

Growth Other:
intrauterine growth retardation
poor overall growth

Growth Weight:
low weight

Skin Nails Hair Skin:
cafe au lait spots
no malar rash

Cardiovascular Heart:
dilated cardiomyopathy (in some patients)

Head And Neck Face:
dysmorphic facial features, progeroid-like

Laboratory Abnormalities:
skeletal muscle biopsy from 1 patient showed mitochondrial dna depletion
patient cells show increased number of sister chromatid exchanges (sces)

Clinical features from OMIM:

618097

GenomeRNAi Phenotypes related to Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 8.62 RMI2 TOP3A

Drugs & Therapeutics for Microcephaly, Growth Restriction, and Increased Sister Chromatid...

Search Clinical Trials , NIH Clinical Center for Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2

Genetic Tests for Microcephaly, Growth Restriction, and Increased Sister Chromatid...

Anatomical Context for Microcephaly, Growth Restriction, and Increased Sister Chromatid...

MalaCards organs/tissues related to Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2:

42
Skin, Skeletal Muscle

Publications for Microcephaly, Growth Restriction, and Increased Sister Chromatid...

Variations for Microcephaly, Growth Restriction, and Increased Sister Chromatid...

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2:

76
# Symbol AA change Variation ID SNP ID
1 TOP3A p.Ala176Val VAR_081107

ClinVar genetic disease variations for Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TOP3A NM_004618.4(TOP3A): c.2718del (p.Thr907Leufs) deletion Pathogenic rs1288928564 GRCh38 Chromosome 17, 18277784: 18277784
2 TOP3A NM_004618.4(TOP3A): c.2718del (p.Thr907Leufs) deletion Pathogenic rs1288928564 GRCh37 Chromosome 17, 18181098: 18181098
3 TOP3A NM_004618.4(TOP3A): c.2271dup (p.Arg758Glnfs) duplication Pathogenic rs752838075 GRCh38 Chromosome 17, 18278231: 18278231
4 TOP3A NM_004618.4(TOP3A): c.2271dup (p.Arg758Glnfs) duplication Pathogenic rs752838075 GRCh37 Chromosome 17, 18181545: 18181545
5 TOP3A NM_004618.4(TOP3A): c.2428del (p.Ser810Leufs) deletion Pathogenic rs1555568139 GRCh38 Chromosome 17, 18278074: 18278074
6 TOP3A NM_004618.4(TOP3A): c.2428del (p.Ser810Leufs) deletion Pathogenic rs1555568139 GRCh37 Chromosome 17, 18181388: 18181388

Expression for Microcephaly, Growth Restriction, and Increased Sister Chromatid...

Search GEO for disease gene expression data for Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2.

Pathways for Microcephaly, Growth Restriction, and Increased Sister Chromatid...

Pathways related to Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.37 RMI2 TOP3A
2
Show member pathways
12.14 RMI2 TOP3A
3
Show member pathways
11.83 RMI2 TOP3A
4
Show member pathways
11.45 RMI2 TOP3A
5
Show member pathways
11.14 RMI2 TOP3A
6 10.6 RMI2 TOP3A

GO Terms for Microcephaly, Growth Restriction, and Increased Sister Chromatid...

Biological processes related to Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 8.62 RMI2 TOP3A

Sources for Microcephaly, Growth Restriction, and Increased Sister Chromatid...

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75 UMLS via Orphanet
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