MCID: MCR226
MIFTS: 21

Microcephaly, Progressive, Seizures, and Cerebral and Cerebellar Atrophy

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

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

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

Name: Microcephaly, Progressive, Seizures, and Cerebral and Cerebellar Atrophy 54 24
Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy 71 29 69
Mscca 24 71
Diffuse Cerebral and Cerebellar Atrophy-Intractable Seizures-Progressive Microcephaly Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
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, seizures, and cerebral and cerebellar atrophy:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 71 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, Seizures, and Cerebral and Cerebellar Atrophy, is also known as microcephaly, progressive, with seizures and cerebral and cerebellar atrophy, and has symptoms including ventriculomegaly, hyperreflexia and cerebral atrophy. An important gene associated with Microcephaly, Progressive, Seizures, and Cerebral and Cerebellar Atrophy is QARS (Glutaminyl-TRNA Synthetase). Affiliated tissues include cortex.

OMIM : 54
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, Seizures, and Cerebral and Cerebellar...

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

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hypotonia
thin corpus callosum
hypomyelination
cerebral atrophy
delayed psychomotor development, profound
more
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:
epicanthal folds
hypotelorism
lack of visual contact

Head And Neck- Nose:
broad, flat nasal bridge


Clinical features from OMIM:

615760

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

32 (show all 17)
id Description HPO Frequency HPO Source Accession
1 ventriculomegaly 32 HP:0002119
2 hyperreflexia 32 occasional (7.5%) HP:0001347
3 cerebral atrophy 32 HP:0002059
4 low-set ears 32 HP:0000369
5 sloping forehead 32 HP:0000340
6 posteriorly rotated ears 32 HP:0000358
7 global developmental delay 32 HP:0001263
8 hypoplasia of the corpus callosum 32 HP:0002079
9 narrow forehead 32 HP:0000341
10 hypotelorism 32 HP:0000601
11 status epilepticus 32 HP:0002133
12 epicanthus 32 HP:0000286
13 muscular hypotonia 32 HP:0001252
14 cortical gyral simplification 32 occasional (7.5%) HP:0009879
15 cerebellar vermis atrophy 32 HP:0006855
16 progressive microcephaly 32 HP:0000253
17 cns hypomyelination 32 HP:0003429

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

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

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

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

id Genetic test Affiliating Genes
1 Microcephaly, Progressive, with Seizures and Cerebral and Cerebellar Atrophy 29
2 Microcephaly, Progressive, Seizures, and Cerebral and Cerebellar Atrophy 24 QARS

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

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

39
Cortex

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

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

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

71
id 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, Seizures, and Cerebral and Cerebellar Atrophy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 QARS NM_005051.2(QARS): c.134G> T (p.Gly45Val) single nucleotide variant Pathogenic/Likely pathogenic rs587777331 GRCh37 Chromosome 3, 49141888: 49141888
2 QARS NM_005051.2(QARS): c.1207C> T (p.Arg403Trp) single nucleotide variant Pathogenic rs587777332 GRCh37 Chromosome 3, 49137482: 49137482
3 QARS NM_005051.2(QARS): c.169T> C (p.Tyr57His) single nucleotide variant Pathogenic rs587777333 GRCh37 Chromosome 3, 49141853: 49141853
4 QARS NM_005051.2(QARS): c.1543C> T (p.Arg515Trp) single nucleotide variant Pathogenic/Likely pathogenic rs587777334 GRCh37 Chromosome 3, 49136848: 49136848

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

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

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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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42 MeSH
43 MESH via Orphanet
44 MGI
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51 NINDS
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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