MGRISCE2
MCID: MCR365
MIFTS: 27

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 57 72 29 6
Mgrisce2 57 72
Congenital Multiple Cafe-Au-Lait Macules-Increased Sister Chromatid Exchange Syndrome 58

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero


HPO:

31
microcephaly, growth restriction, and increased sister chromatid exchange 2:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare skin diseases


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

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2, also known as mgrisce2, is related to rapadilino syndrome and baller-gerold syndrome. 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 skeletal muscle, and related phenotypes are global developmental delay and gastroesophageal reflux

UniProtKB/Swiss-Prot : 72 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...

Diseases related to Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 rapadilino syndrome 9.7 TOP3A RMI2
2 baller-gerold syndrome 9.7 TOP3A RMI2
3 rothmund-thomson syndrome, type 2 9.6 TOP3A RMI2
4 bloom syndrome 9.6 TOP3A RMI2
5 fanconi anemia, complementation group a 9.5 TOP3A RMI2

Graphical network of the top 20 diseases related to Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2:



Diseases related to Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2

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

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

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 gastroesophageal reflux 31 very rare (1%) HP:0002020
3 dilated cardiomyopathy 31 very rare (1%) HP:0001644
4 recurrent infections 31 very rare (1%) HP:0002719
5 microcephaly 31 HP:0000252
6 short stature 31 HP:0004322
7 intrauterine growth retardation 31 HP:0001511
8 decreased body weight 31 HP:0004325
9 cafe-au-lait spot 31 HP:0000957
10 reduced subcutaneous adipose tissue 31 HP:0003758

Symptoms via clinical synopsis from OMIM®:

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

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...

Genetic tests related to Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2:

# Genetic test Affiliating Genes
1 Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 29 TOP3A

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

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

40
Skeletal Muscle

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

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

# Title Authors PMID Year
1
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. 57 6
30057030 2018

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TOP3A NM_004618.5(TOP3A):c.2718del (p.Thr907fs) Deletion Pathogenic 560202 rs1288928564 GRCh37: 17:18181098-18181098
GRCh38: 17:18277784-18277784
2 TOP3A NM_004618.5(TOP3A):c.2271dup (p.Arg758fs) Duplication Pathogenic 560203 rs752838075 GRCh37: 17:18181544-18181545
GRCh38: 17:18278230-18278231
3 TOP3A NM_004618.5(TOP3A):c.2428del (p.Ser810fs) Deletion Pathogenic 560204 rs1555568139 GRCh37: 17:18181388-18181388
GRCh38: 17:18278074-18278074
4 TOP3A NM_004618.5(TOP3A):c.2989del (p.Cys997fs) Deletion Pathogenic 1034100 GRCh37: 17:18178133-18178133
GRCh38: 17:18274819-18274819
5 TOP3A NM_004618.5(TOP3A):c.2056C>T (p.Arg686Cys) SNV Uncertain significance 1028283 GRCh37: 17:18183938-18183938
GRCh38: 17:18280624-18280624

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

72
# Symbol AA change Variation ID SNP ID
1 TOP3A p.Ala176Val VAR_081107

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 TOP3A RMI2
2
Show member pathways
12.14 TOP3A RMI2
3
Show member pathways
11.83 TOP3A RMI2
4
Show member pathways
11.45 TOP3A RMI2
5
Show member pathways
11.13 TOP3A RMI2
6 10.59 TOP3A RMI2

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 8.96 TOP3A RMI2
2 regulation of signal transduction by p53 class mediator GO:1901796 8.62 TOP3A RMI2

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

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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