MCID: MCR365
MIFTS: 12

Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2

Categories: Genetic 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 6
Mgrisce2 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero


Classifications:



External Ids:

OMIM 57 618097

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)

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). Affiliated tissues include skeletal muscle, and related phenotypes are intrauterine growth retardation and cafe-au-lait spot

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

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 intrauterine growth retardation 32 HP:0001511
2 cafe-au-lait spot 32 HP:0000957

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:

41
Skeletal Muscle

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

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

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

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

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
Content
Loading form....