MCPH13
MCID: MCR236
MIFTS: 32

Microcephaly 13, Primary, Autosomal Recessive (MCPH13)

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

Aliases & Classifications for Microcephaly 13, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 13, Primary, Autosomal Recessive:

Name: Microcephaly 13, Primary, Autosomal Recessive 57 75 73
Primary Autosomal Recessive Microcephaly 13 12 29 6 15
Mcph13 57 12 75
Microcephaly, Type 13, Primary, Autosomal Recessive 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
two sibs have been reported (last curated october 2014)


HPO:

32
microcephaly 13, primary, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephaly 13, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 Microcephaly 13, primary, autosomal recessive: A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small.

MalaCards based summary : Microcephaly 13, Primary, Autosomal Recessive, also known as primary autosomal recessive microcephaly 13, is related to microcephaly 17, primary, autosomal recessive and microcephaly 12, primary, autosomal recessive. An important gene associated with Microcephaly 13, Primary, Autosomal Recessive is CENPE (Centromere Protein E), and among its related pathways/superpathways is DNA Damage. Affiliated tissues include brain and cortex, and related phenotypes are seizures and microcephaly

Disease Ontology : 12 A primary autosomal recessive microcephaly that has material basis in homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24.

Description from OMIM: 616051

Related Diseases for Microcephaly 13, Primary, Autosomal Recessive

Diseases in the Microcephaly family:

Microcephaly, Autosomal Dominant Microcephaly 1, Primary, Autosomal Recessive
Microcephaly 4, Primary, Autosomal Recessive Microcephaly 3, Primary, Autosomal Recessive
Microcephaly 6, Primary, Autosomal Recessive Microcephaly 5, Primary, Autosomal Recessive
Microcephaly 7, Primary, Autosomal Recessive Microcephaly 8, Primary, Autosomal Recessive
Microcephaly 9, Primary, Autosomal Recessive Microcephaly 10, Primary, Autosomal Recessive
Microcephaly 11, Primary, Autosomal Recessive Microcephaly 13, Primary, Autosomal Recessive
Microcephaly 12, Primary, Autosomal Recessive Microcephaly 14, Primary, Autosomal Recessive
Microcephaly 15, Primary, Autosomal Recessive Microcephaly 16, Primary, Autosomal Recessive
Microcephaly 17, Primary, Autosomal Recessive Microcephaly 18, Primary, Autosomal Dominant
Microcephaly 19, Primary, Autosomal Recessive Microcephaly 20, Primary, Autosomal Recessive
Microcephaly 21, Primary, Autosomal Recessive Microcephaly 22, Primary, Autosomal Recessive
Microcephaly 23, Primary, Autosomal Recessive Primary Autosomal Recessive Microcephaly
Primary Microcephaly

Diseases related to Microcephaly 13, Primary, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 microcephaly 17, primary, autosomal recessive 10.0 MCPH1 WDR62
2 microcephaly 12, primary, autosomal recessive 9.9 MCPH1 WDR62
3 microcephaly 5, primary, autosomal recessive 9.9 MCPH1 WDR62
4 microcephaly 7, primary, autosomal recessive 9.9 MCPH1 WDR62
5 primary autosomal recessive microcephaly 9.9 MCPH1 WDR62
6 congenital nervous system abnormality 9.9 MCPH1 WDR62
7 physical disorder 9.9 MCPH1 WDR62
8 primary microcephaly 9.8 MCPH1 WDR62
9 neuronal migration disorders 9.8 ADGRG1 WDR62
10 seckel syndrome 9.8 CENPE MCPH1
11 microcephaly 9.8 CENPE MCPH1 WDR62
12 microcephaly 18, primary, autosomal dominant 9.8 CENPE MCPH1 WDR62
13 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 9.7 ADGRG1 MCPH1 WDR62

Graphical network of the top 20 diseases related to Microcephaly 13, Primary, Autosomal Recessive:



Diseases related to Microcephaly 13, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 13, Primary, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
micrognathia
round face
sloping forehead
low forehead

Skeletal Hands:
small hands

Growth Other:
intrauterine growth retardation (iugr)

Growth Height:
short stature (in 1 of 2 sibs)

Head And Neck Head:
microcephaly (-7 to -9 sd)

Head And Neck Eyes:
nystagmus, intermittent (1 of 2 sibs)

Chest Ribs Sternum Clavicles And Scapulae:
widening of the ribs, mild (in 1 of 2 sibs)

Head And Neck Nose:
prominent nose

Skeletal Feet:
small feet

Neurologic Central Nervous System:
delayed psychomotor development, moderate to severe
seizures (in 1 of 2 sibs)
simplified gyral pattern (in 1 of 2 sibs)
partial agenesis of the corpus callosum (in 1 of 2 sibs)
cerebellar hypoplasia (in 1 of 2 sibs)

Growth Weight:
low weight due to poor growth

Head And Neck Ears:
large appearing ears

Cardiovascular Heart:
congenital restrictive cardiomyopathy (in 1 of 2 sibs)

Skeletal Limbs:
metaphyseal sclerosis, mild (in 1 of 2 sibs)


Clinical features from OMIM:

616051

Human phenotypes related to Microcephaly 13, Primary, Autosomal Recessive:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 microcephaly 32 HP:0000252
3 short stature 32 HP:0004322
4 micrognathia 32 HP:0000347
5 short foot 32 HP:0001773
6 intrauterine growth retardation 32 HP:0001511
7 cerebellar hypoplasia 32 HP:0001321
8 small hand 32 HP:0200055
9 round face 32 HP:0000311
10 partial agenesis of the corpus callosum 32 HP:0001338
11 sloping forehead 32 HP:0000340
12 prominent nose 32 HP:0000448
13 metaphyseal sclerosis 32 HP:0004979
14 cortical gyral simplification 32 HP:0009879

MGI Mouse Phenotypes related to Microcephaly 13, Primary, Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 8.92 ADGRG1 CENPE MCPH1 WDR62

Drugs & Therapeutics for Microcephaly 13, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 13, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 13, Primary, Autosomal Recessive

Genetic tests related to Microcephaly 13, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Primary Autosomal Recessive Microcephaly 13 29 CENPE

Anatomical Context for Microcephaly 13, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 13, Primary, Autosomal Recessive:

41
Brain, Cortex

Publications for Microcephaly 13, Primary, Autosomal Recessive

Variations for Microcephaly 13, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 13, Primary, Autosomal Recessive:

75
# Symbol AA change Variation ID SNP ID
1 CENPE p.Asp933Asn VAR_072429 rs144716013
2 CENPE p.Lys1355Glu VAR_072430 rs141488085

ClinVar genetic disease variations for Microcephaly 13, Primary, Autosomal Recessive:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CENPE NM_001813.2(CENPE): c.2797G> A (p.Asp933Asn) single nucleotide variant Likely pathogenic rs144716013 GRCh38 Chromosome 4, 103158691: 103158691
2 CENPE NM_001813.2(CENPE): c.2797G> A (p.Asp933Asn) single nucleotide variant Likely pathogenic rs144716013 GRCh37 Chromosome 4, 104079848: 104079848
3 CENPE NM_001813.2(CENPE): c.4063A> G (p.Lys1355Glu) single nucleotide variant Pathogenic rs141488085 GRCh38 Chromosome 4, 103147427: 103147427
4 CENPE NM_001813.2(CENPE): c.4063A> G (p.Lys1355Glu) single nucleotide variant Pathogenic rs141488085 GRCh37 Chromosome 4, 104068584: 104068584

Expression for Microcephaly 13, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 13, Primary, Autosomal Recessive.

Pathways for Microcephaly 13, Primary, Autosomal Recessive

Pathways related to Microcephaly 13, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.09 CENPE MCPH1

GO Terms for Microcephaly 13, Primary, Autosomal Recessive

Cellular components related to Microcephaly 13, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 8.8 CENPE MCPH1 WDR62

Biological processes related to Microcephaly 13, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cerebral cortex development GO:0021987 8.96 MCPH1 WDR62
2 mitotic spindle organization GO:0007052 8.62 CENPE WDR62

Sources for Microcephaly 13, Primary, Autosomal Recessive

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
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