MCID: MCR355
MIFTS: 22

Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Microcephaly, Progressive, with Seizures and Cerebral and...

MalaCards integrated aliases for Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy:

Name: Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy 57 75 29 6 73
Microcephaly, Progressive, Seizures, and Cerebral and Cerebellar Atrophy 57 40
Mscca 57 75
Diffuse Cerebral and Cerebellar Atrophy-Intractable Seizures-Progressive Microcephaly Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset at birth or early infancy
dysmorphic features are variable
two unrelated families have been reported (last curated april 2014)


HPO:

32
microcephaly, progressive, with seizures and cerebral and cerebellar atrophy:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephaly, Progressive, with Seizures and Cerebral and...

UniProtKB/Swiss-Prot : 75 Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy: A severe, autosomal recessive, neurodevelopmental and neurodegenerative disorder characterized by progressive microcephaly, severe seizures in infancy, atrophy of the cerebral cortex and cerebellar vermis, and mild atrophy of the cerebellar hemispheres, resulting in profoundly delayed development and hypotonia.

MalaCards based summary : Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy, is also known as microcephaly, progressive, seizures, and cerebral and cerebellar atrophy. An important gene associated with Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy is QARS (Glutaminyl-TRNA Synthetase), and among its related pathways/superpathways is tRNA Aminoacylation. Affiliated tissues include cortex, and related phenotypes are microcephaly and progressive microcephaly

OMIM : 57 Progressive microcephaly with seizures and cerebral and cerebellar atrophy is a severe autosomal recessive neurodevelopmental and neurodegenerative disorder with onset in the first days or months of life. Patients are born with microcephaly and soon develop intractable seizures, resulting in profoundly delayed development and hypotonia (summary by Zhang et al., 2014). (615760)

Related Diseases for Microcephaly, Progressive, with Seizures and Cerebral and...

Symptoms & Phenotypes for Microcephaly, Progressive, with Seizures and Cerebral and...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Head And Neck Head:
sloping forehead
bitemporal narrowing
microcephaly, progressive (-3 to -10 sd)

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
hypotelorism
epicanthal folds
lack of visual contact

Neurologic Central Nervous System:
status epilepticus
cerebral atrophy
hypotonia
enlarged ventricles
hypomyelination
more
Head And Neck Nose:
broad, flat nasal bridge


Clinical features from OMIM:

615760

Human phenotypes related to Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 progressive microcephaly 32 HP:0000253
3 epicanthus 32 HP:0000286
4 sloping forehead 32 HP:0000340
5 narrow forehead 32 HP:0000341
6 posteriorly rotated ears 32 HP:0000358
7 low-set ears 32 HP:0000369
8 hypotelorism 32 HP:0000601
9 global developmental delay 32 HP:0001263
10 generalized hypotonia 32 HP:0001290
11 hyperreflexia 32 occasional (7.5%) HP:0001347
12 cerebral atrophy 32 HP:0002059
13 hypoplasia of the corpus callosum 32 HP:0002079
14 ventriculomegaly 32 HP:0002119
15 status epilepticus 32 HP:0002133
16 cns hypomyelination 32 HP:0003429
17 cerebellar vermis atrophy 32 HP:0006855
18 cortical gyral simplification 32 occasional (7.5%) HP:0009879

Drugs & Therapeutics for Microcephaly, Progressive, with Seizures and Cerebral and...

Search Clinical Trials , NIH Clinical Center for Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy

Genetic Tests for Microcephaly, Progressive, with Seizures and Cerebral and...

Genetic tests related to Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy:

# Genetic test Affiliating Genes
1 Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy 29 QARS

Anatomical Context for Microcephaly, Progressive, with Seizures and Cerebral and...

MalaCards organs/tissues related to Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy:

41
Cortex

Publications for Microcephaly, Progressive, with Seizures and Cerebral and...

Variations for Microcephaly, Progressive, with Seizures and Cerebral and...

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy:

75
# Symbol AA change Variation ID SNP ID
1 QARS p.Gly45Val VAR_071189 rs587777331
2 QARS p.Tyr57His VAR_071190 rs587777333
3 QARS p.Arg403Trp VAR_071191 rs587777332
4 QARS p.Arg515Trp VAR_071192 rs587777334

ClinVar genetic disease variations for Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy:

6
(show top 50) (show all 180)
# Gene Variation Type Significance SNP ID Assembly Location
1 QARS NM_005051.2(QARS): c.134G> T (p.Gly45Val) single nucleotide variant Likely pathogenic rs587777331 GRCh37 Chromosome 3, 49141888: 49141888
2 QARS NM_005051.2(QARS): c.134G> T (p.Gly45Val) single nucleotide variant Likely pathogenic rs587777331 GRCh38 Chromosome 3, 49104455: 49104455
3 QARS NM_005051.2(QARS): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs587777332 GRCh37 Chromosome 3, 49137482: 49137482
4 QARS NM_005051.2(QARS): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs587777332 GRCh38 Chromosome 3, 49100049: 49100049
5 QARS NM_005051.2(QARS): c.169T> C (p.Tyr57His) single nucleotide variant Pathogenic rs587777333 GRCh37 Chromosome 3, 49141853: 49141853
6 QARS NM_005051.2(QARS): c.169T> C (p.Tyr57His) single nucleotide variant Pathogenic rs587777333 GRCh38 Chromosome 3, 49104420: 49104420
7 QARS NM_005051.2(QARS): c.1543C> T (p.Arg515Trp) single nucleotide variant Likely pathogenic rs587777334 GRCh37 Chromosome 3, 49136848: 49136848
8 QARS NM_005051.2(QARS): c.1543C> T (p.Arg515Trp) single nucleotide variant Likely pathogenic rs587777334 GRCh38 Chromosome 3, 49099415: 49099415
9 QARS NM_005051.2(QARS): c.1635A> G (p.Gln545=) single nucleotide variant Benign rs113144521 GRCh37 Chromosome 3, 49136666: 49136666
10 QARS NM_005051.2(QARS): c.1635A> G (p.Gln545=) single nucleotide variant Benign rs113144521 GRCh38 Chromosome 3, 49099233: 49099233
11 QARS NM_005051.2(QARS): c.1453G> C (p.Gly485Arg) single nucleotide variant Uncertain significance rs878854751 GRCh37 Chromosome 3, 49137016: 49137016
12 QARS NM_005051.2(QARS): c.1453G> C (p.Gly485Arg) single nucleotide variant Uncertain significance rs878854751 GRCh38 Chromosome 3, 49099583: 49099583
13 QARS NM_005051.2(QARS): c.933A> G (p.Glu311=) single nucleotide variant Likely benign rs775610674 GRCh37 Chromosome 3, 49138051: 49138051
14 QARS NM_005051.2(QARS): c.933A> G (p.Glu311=) single nucleotide variant Likely benign rs775610674 GRCh38 Chromosome 3, 49100618: 49100618
15 QARS NM_005051.2(QARS): c.117+4C> T single nucleotide variant Uncertain significance rs749708983 GRCh37 Chromosome 3, 49142046: 49142046
16 QARS NM_005051.2(QARS): c.117+4C> T single nucleotide variant Uncertain significance rs749708983 GRCh38 Chromosome 3, 49104613: 49104613
17 QARS NM_005051.2(QARS): c.1426G> A (p.Val476Ile) single nucleotide variant Benign/Likely benign rs144092780 GRCh37 Chromosome 3, 49137043: 49137043
18 QARS NM_005051.2(QARS): c.1426G> A (p.Val476Ile) single nucleotide variant Benign/Likely benign rs144092780 GRCh38 Chromosome 3, 49099610: 49099610
19 QARS NM_005051.2(QARS): c.854A> G (p.Asn285Ser) single nucleotide variant Benign rs11539148 GRCh37 Chromosome 3, 49138810: 49138810
20 QARS NM_005051.2(QARS): c.854A> G (p.Asn285Ser) single nucleotide variant Benign rs11539148 GRCh38 Chromosome 3, 49101377: 49101377
21 QARS NM_005051.2(QARS): c.741A> G (p.Pro247=) single nucleotide variant Likely benign rs779428867 GRCh37 Chromosome 3, 49139101: 49139101
22 QARS NM_005051.2(QARS): c.741A> G (p.Pro247=) single nucleotide variant Likely benign rs779428867 GRCh38 Chromosome 3, 49101668: 49101668
23 QARS NM_005051.2(QARS): c.495C> T (p.Ile165=) single nucleotide variant Likely benign rs375725197 GRCh37 Chromosome 3, 49140799: 49140799
24 QARS NM_005051.2(QARS): c.495C> T (p.Ile165=) single nucleotide variant Likely benign rs375725197 GRCh38 Chromosome 3, 49103366: 49103366
25 QARS NM_005051.2(QARS): c.25C> A (p.Leu9Ile) single nucleotide variant Benign/Likely benign rs62621067 GRCh37 Chromosome 3, 49142142: 49142142
26 QARS NM_005051.2(QARS): c.25C> A (p.Leu9Ile) single nucleotide variant Benign/Likely benign rs62621067 GRCh38 Chromosome 3, 49104709: 49104709
27 QARS NM_005051.2(QARS): c.1957-9C> T single nucleotide variant Likely benign rs367776807 GRCh37 Chromosome 3, 49135922: 49135922
28 QARS NM_005051.2(QARS): c.1957-9C> T single nucleotide variant Likely benign rs367776807 GRCh38 Chromosome 3, 49098489: 49098489
29 QARS NM_005051.2(QARS): c.1671G> T (p.Val557=) single nucleotide variant Benign/Likely benign rs115671018 GRCh38 Chromosome 3, 49099197: 49099197
30 QARS NM_005051.2(QARS): c.1671G> T (p.Val557=) single nucleotide variant Benign/Likely benign rs115671018 GRCh37 Chromosome 3, 49136630: 49136630
31 QARS NM_005051.2(QARS): c.1542A> G (p.Pro514=) single nucleotide variant Likely benign rs370232570 GRCh37 Chromosome 3, 49136849: 49136849
32 QARS NM_005051.2(QARS): c.1542A> G (p.Pro514=) single nucleotide variant Likely benign rs370232570 GRCh38 Chromosome 3, 49099416: 49099416
33 QARS NM_005051.2(QARS): c.1014T> C (p.Tyr338=) single nucleotide variant Benign rs138685078 GRCh37 Chromosome 3, 49137854: 49137854
34 QARS NM_005051.2(QARS): c.1014T> C (p.Tyr338=) single nucleotide variant Benign rs138685078 GRCh38 Chromosome 3, 49100421: 49100421
35 QARS NM_005051.2(QARS): c.1388+7G> A single nucleotide variant Benign/Likely benign rs201234869 GRCh37 Chromosome 3, 49137187: 49137187
36 QARS NM_005051.2(QARS): c.1388+7G> A single nucleotide variant Benign/Likely benign rs201234869 GRCh38 Chromosome 3, 49099754: 49099754
37 QARS NM_005051.2(QARS): c.704-5G> T single nucleotide variant Likely benign rs775662720 GRCh37 Chromosome 3, 49139143: 49139143
38 QARS NM_005051.2(QARS): c.704-5G> T single nucleotide variant Likely benign rs775662720 GRCh38 Chromosome 3, 49101710: 49101710
39 QARS NM_005051.2(QARS): c.2064G> A (p.Glu688=) single nucleotide variant Benign/Likely benign rs144316335 GRCh37 Chromosome 3, 49135806: 49135806
40 QARS NM_005051.2(QARS): c.2064G> A (p.Glu688=) single nucleotide variant Benign/Likely benign rs144316335 GRCh38 Chromosome 3, 49098373: 49098373
41 QARS NM_005051.2(QARS): c.163C> T (p.Leu55=) single nucleotide variant Benign rs58012546 GRCh37 Chromosome 3, 49141859: 49141859
42 QARS NM_005051.2(QARS): c.163C> T (p.Leu55=) single nucleotide variant Benign rs58012546 GRCh38 Chromosome 3, 49104426: 49104426
43 QARS NM_005051.2(QARS): c.2195T> C (p.Val732Ala) single nucleotide variant Uncertain significance rs763741745 GRCh38 Chromosome 3, 49098074: 49098074
44 QARS NM_005051.2(QARS): c.2195T> C (p.Val732Ala) single nucleotide variant Uncertain significance rs763741745 GRCh37 Chromosome 3, 49135507: 49135507
45 QARS NM_005051.2(QARS): c.1760C> T (p.Ser587Phe) single nucleotide variant Uncertain significance rs144563810 GRCh38 Chromosome 3, 49098988: 49098988
46 QARS NM_005051.2(QARS): c.1760C> T (p.Ser587Phe) single nucleotide variant Uncertain significance rs144563810 GRCh37 Chromosome 3, 49136421: 49136421
47 QARS NM_005051.2(QARS): c.1267A> G (p.Thr423Ala) single nucleotide variant Uncertain significance rs746791896 GRCh38 Chromosome 3, 49099989: 49099989
48 QARS NM_005051.2(QARS): c.1267A> G (p.Thr423Ala) single nucleotide variant Uncertain significance rs746791896 GRCh37 Chromosome 3, 49137422: 49137422
49 QARS NM_005051.2(QARS): c.632-9dupT duplication Likely benign rs775642346 GRCh38 Chromosome 3, 49101908: 49101908
50 QARS NM_005051.2(QARS): c.632-9dupT duplication Likely benign rs775642346 GRCh37 Chromosome 3, 49139341: 49139341

Expression for Microcephaly, Progressive, with Seizures and Cerebral and...

Search GEO for disease gene expression data for Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy.

Pathways for Microcephaly, Progressive, with Seizures and Cerebral and...

Pathways related to Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.87 MIR6890 QARS

GO Terms for Microcephaly, Progressive, with Seizures and Cerebral and...

Sources for Microcephaly, Progressive, with Seizures and Cerebral and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
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28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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58 OMIM via Orphanet
62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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