MCPH13
MCID: MCR236
MIFTS: 33

Microcephaly 13, Primary, Autosomal Recessive (MCPH13)

Categories: Eye diseases, 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 72 70
Primary Autosomal Recessive Microcephaly 13 12 29 6 15
Mcph13 57 12 72
Microcephaly, Type 13, Primary, Autosomal Recessive 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
microcephaly 13, primary, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephaly 13, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 72 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 seckel syndrome 2 and microcephaly 1, primary, autosomal recessive. An important gene associated with Microcephaly 13, Primary, Autosomal Recessive is CENPE (Centromere Protein E). Affiliated tissues include cortex, and related phenotypes are nystagmus 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.

More information from OMIM: 616051 PS251200

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 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
Microcephaly 24, Primary, Autosomal Recessive Microcephaly 25, Primary, Autosomal Recessive
Microcephaly 26, Primary, Autosomal Dominant Microcephaly 27, Primary, Autosomal Dominant
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 35)
# Related Disease Score Top Affiliating Genes
1 seckel syndrome 2 10.0 MCPH1 CEP152
2 microcephaly 1, primary, autosomal recessive 10.0 MCPH1 CEP152
3 microcephalic osteodysplastic primordial dwarfism, type ii 10.0 MCPH1 CEP152
4 seckel syndrome 5 9.9 MCPH1 CEP152
5 seckel syndrome 4 9.9 MCPH1 CEP152
6 mosaic variegated aneuploidy syndrome 9.9 CEP152 CENPE
7 microcephaly 19, primary, autosomal recessive 9.9 RTTN CEP152
8 miller-dieker lissencephaly syndrome 9.8 WDR62 MCPH1
9 microcephaly 8, primary, autosomal recessive 9.8 WDR62 MCPH1 CEP152
10 microcephaly 12, primary, autosomal recessive 9.8 WDR62 MCPH1 CEP152
11 microcephaly 9, primary, autosomal recessive 9.8 WDR62 MCPH1 CEP152
12 microcephaly 7, primary, autosomal recessive 9.8 WDR62 MCPH1 CEP152
13 physical disorder 9.8 WDR62 MCPH1 CEP152
14 band heterotopia 9.7 WDR62 MCPH1
15 periventricular nodular heterotopia 9.7 WDR62 RTTN MCPH1
16 isolated growth hormone deficiency 9.7 WDR62 RTTN CEP152
17 autosomal recessive non-syndromic intellectual disability 9.6 WDR62 MCPH1 CEP152
18 microcephaly 10, primary, autosomal recessive 9.6 ZNF335 WDR62 CEP152 ANKLE2
19 microcephaly 11, primary, autosomal recessive 9.6 ZNF335 WDR62 MCPH1 CEP152
20 microcephaly 4, primary, autosomal recessive 9.6 ZNF335 WDR62 MCPH1 CEP152
21 congenital nervous system abnormality 9.6 ZNF335 WDR62 MCPH1 CEP152
22 microcephaly 16, primary, autosomal recessive 9.6 ZNF335 RTTN MFSD2A ANKLE2
23 microcephaly 3, primary, autosomal recessive 9.5 WDR62 RTTN MCPH1 CEP152
24 isolated growth hormone deficiency, type ia 9.4 WDR62 RTTN MCPH1 CEP152
25 primary microcephaly 9.4 WDR62 RTTN MCPH1 CEP152
26 microcephaly 18, primary, autosomal dominant 9.4 ZNF335 MFSD2A MCPH1 CEP152 ANKLE2
27 microcephaly 14, primary, autosomal recessive 9.3 ZNF335 WDR62 RTTN CEP152 ANKLE2
28 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities 9.3 ZNF335 RTTN MFSD2A CEP152 ANKLE2
29 microcephaly 5, primary, autosomal recessive 9.3 ZNF335 WDR62 RTTN MCPH1 CEP152
30 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 9.3 ZNF335 WDR62 RTTN MCPH1 CEP152
31 microcephaly 6, primary, autosomal recessive 9.3 ZNF335 WDR62 RTTN MCPH1 CEP152
32 microcephaly 17, primary, autosomal recessive 9.2 ZNF335 WDR62 MFSD2A MCPH1 CEP152 ANKLE2
33 seckel syndrome 9.1 WDR62 RTTN MCPH1 CEP152 CENPE ANKLE2
34 microcephaly 8.6 ZNF335 WDR62 RTTN MFSD2A MCPH1 CEP152
35 primary autosomal recessive microcephaly 8.2 ZNF335 WDR62 RTTN MFSD2A MCPH1 FRRS1

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

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

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 microcephaly 31 HP:0000252
3 short stature 31 HP:0004322
4 intrauterine growth retardation 31 HP:0001511
5 micrognathia 31 HP:0000347
6 round face 31 HP:0000311
7 small hand 31 HP:0200055
8 cerebellar hypoplasia 31 HP:0001321
9 partial agenesis of the corpus callosum 31 HP:0001338
10 short foot 31 HP:0001773
11 sloping forehead 31 HP:0000340
12 cardiomyopathy 31 HP:0001638
13 prominent nose 31 HP:0000448
14 metaphyseal sclerosis 31 HP:0004979
15 simplified gyral pattern 31 HP:0009879
16 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 ANKLE2 CENPE MCPH1 MFSD2A RTTN 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:

40
Cortex

Publications for Microcephaly 13, Primary, Autosomal Recessive

Articles related to Microcephaly 13, Primary, Autosomal Recessive:

# Title Authors PMID Year
1
Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. 6 57
24748105 2014
2
CENPE Inhibition Leads to Mitotic Catastrophe and DNA Damage in Medulloblastoma Cells. 61
33804489 2021
3
A novel mutation of WDR62 gene associated with severe phenotype including infantile spasm, microcephaly, and intellectual disability. 61
28756000 2018

Variations for Microcephaly 13, Primary, Autosomal Recessive

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CENPE NM_001813.3(CENPE):c.4063A>G (p.Lys1355Glu) SNV Pathogenic 157498 rs141488085 GRCh37: 4:104068584-104068584
GRCh38: 4:103147427-103147427
2 CENPE NM_001813.3(CENPE):c.2132-1G>C SNV Likely pathogenic 932106 GRCh37: 4:104081937-104081937
GRCh38: 4:103160780-103160780
3 CENPE NM_001813.3(CENPE):c.2797G>A (p.Asp933Asn) SNV Likely pathogenic 157497 rs144716013 GRCh37: 4:104079848-104079848
GRCh38: 4:103158691-103158691
4 CENPE NM_001813.3(CENPE):c.1722+5G>A SNV Uncertain significance 1030480 GRCh37: 4:104084631-104084631
GRCh38: 4:103163474-103163474
5 CENPE NM_001813.3(CENPE):c.5035G>A (p.Glu1679Lys) SNV Uncertain significance 1030481 GRCh37: 4:104065598-104065598
GRCh38: 4:103144441-103144441
6 CENPE NM_001813.3(CENPE):c.304C>T (p.His102Tyr) SNV Uncertain significance 434697 rs758681737 GRCh37: 4:104117130-104117130
GRCh38: 4:103195973-103195973
7 CENPE NM_001813.3(CENPE):c.7187G>A (p.Ser2396Asn) SNV Uncertain significance 1032006 GRCh37: 4:104041447-104041447
GRCh38: 4:103120290-103120290

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

72
# Symbol AA change Variation ID SNP ID
1 CENPE p.Asp933Asn VAR_072429 rs144716013
2 CENPE p.Lys1355Glu VAR_072430 rs141488085

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

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 9.55 WDR62 RTTN MCPH1 CEP152 CENPE
2 centriole GO:0005814 9.13 WDR62 RTTN CEP152
3 microtubule organizing center GO:0005815 8.92 WDR62 RTTN MCPH1 CEP152

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 9.16 WDR62 MCPH1
2 mitotic spindle organization GO:0007052 8.96 WDR62 CENPE
3 centriole replication GO:0007099 8.8 WDR62 RTTN CEP152

Sources for Microcephaly 13, Primary, Autosomal Recessive

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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