MCID: MCR236
MIFTS: 22

Microcephaly 13, Primary, Autosomal Recessive

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Mental 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 29 6
Mcph13 57 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, is also known as primary autosomal recessive microcephaly 13. An important gene associated with Microcephaly 13, Primary, Autosomal Recessive is CENPE (Centromere Protein E). Affiliated tissues include brain and cortex, and related phenotypes are seizures and microcephaly

Description from OMIM: 616051

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

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

GO Terms for Microcephaly 13, Primary, Autosomal Recessive

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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