MCPH18
MCID: MCR322
MIFTS: 36

Microcephaly 18, Primary, Autosomal Dominant (MCPH18)

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

Aliases & Classifications for Microcephaly 18, Primary, Autosomal Dominant

MalaCards integrated aliases for Microcephaly 18, Primary, Autosomal Dominant:

Name: Microcephaly 18, Primary, Autosomal Dominant 57 75 29 6
Mcph18 57 12 75
Primary Autosomal Dominant Microcephaly 18 12 15

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
one family has been reported (last curated june 2017)


Classifications:



External Ids:

OMIM 57 617520
Disease Ontology 12 DOID:0070295
MeSH 44 D008831
SNOMED-CT via HPO 69 228156007 247578003 91138005

Summaries for Microcephaly 18, Primary, Autosomal Dominant

UniProtKB/Swiss-Prot : 75 Microcephaly 18, primary, autosomal dominant: A form of microcephaly, a disease defined as a head circumference more than 3 standard deviations below the age, sex and ethnically matched mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. MCPH18 affected individuals manifest microcephaly with mild to moderate intellectual disability.

MalaCards based summary : Microcephaly 18, Primary, Autosomal Dominant, also known as mcph18, is related to seckel syndrome 5 and microcephalic osteodysplastic primordial dwarfism, type ii. An important gene associated with Microcephaly 18, Primary, Autosomal Dominant is WDFY3 (WD Repeat And FYVE Domain Containing 3), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Cell Cycle, Mitotic. Affiliated tissues include brain and cortex, and related phenotypes are intellectual disability and cellular

Disease Ontology : 12 A primary microcephaly that has material basis in heterozygous mutation in the WDFY3 gene on chromosome 4q21.

Description from OMIM: 617520

Related Diseases for Microcephaly 18, Primary, Autosomal Dominant

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 18, Primary, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 seckel syndrome 5 10.1 CENPJ CEP152
2 microcephalic osteodysplastic primordial dwarfism, type ii 10.0 CDK5RAP2 CENPJ
3 seckel syndrome 1 10.0 CENPJ CEP152
4 microcephaly 11, primary, autosomal recessive 10.0 MCPH1 PHC1
5 microcephaly 8, primary, autosomal recessive 10.0 CEP135 CEP63
6 seckel syndrome 2 9.9 CENPJ CEP152
7 microcephaly 16, primary, autosomal recessive 9.9 ANKLE2 CEP63
8 microcephaly 13, primary, autosomal recessive 9.9 CENPE MCPH1 WDR62
9 microcephaly 3, primary, autosomal recessive 9.5 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1
10 physical disorder 9.4 CDK5RAP2 CENPJ CEP63 MCPH1 WDR62
11 seckel syndrome 9.4 CENPE CENPJ CEP152 CEP63 MCPH1
12 primary autosomal recessive microcephaly 9.4 CDK5RAP2 CENPJ CEP152 MCPH1 STIL WDR62
13 microcephaly 6, primary, autosomal recessive 9.3 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
14 microcephaly 17, primary, autosomal recessive 9.2 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
15 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 9.2 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
16 microcephaly 4, primary, autosomal recessive 9.2 CDK5RAP2 CENPJ CEP152 CEP63 KNL1 MCPH1
17 microcephaly 5, primary, autosomal recessive 9.2 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
18 microcephaly 7, primary, autosomal recessive 9.2 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
19 congenital nervous system abnormality 9.2 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 STIL
20 microcephaly 12, primary, autosomal recessive 8.6 CDK5RAP2 CDK6 CENPJ CEP135 CEP152 CEP63
21 primary microcephaly 8.6 CDK5RAP2 CDK6 CENPJ CEP135 CEP152 CEP63
22 microcephaly 8.0 ANKLE2 CDK5RAP2 CDK6 CENPE CENPJ CEP135

Graphical network of the top 20 diseases related to Microcephaly 18, Primary, Autosomal Dominant:



Diseases related to Microcephaly 18, Primary, Autosomal Dominant

Symptoms & Phenotypes for Microcephaly 18, Primary, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability, mild to moderate
no structural brain abnormalities

Head And Neck Head:
microcephaly (<3 sd below mean per age)


Clinical features from OMIM:

617520

Human phenotypes related to Microcephaly 18, Primary, Autosomal Dominant:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249

MGI Mouse Phenotypes related to Microcephaly 18, Primary, Autosomal Dominant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.9 CDK5RAP2 CDK6 CENPE CENPJ CEP152 CEP63
2 mortality/aging MP:0010768 9.7 CDK5RAP2 CDK6 CENPE CENPJ KNL1 MCPH1
3 nervous system MP:0003631 9.32 CDK5RAP2 CENPJ CEP152 CEP63 MCPH1 MFSD2A

Drugs & Therapeutics for Microcephaly 18, Primary, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Microcephaly 18, Primary, Autosomal Dominant

Genetic Tests for Microcephaly 18, Primary, Autosomal Dominant

Genetic tests related to Microcephaly 18, Primary, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Microcephaly 18, Primary, Autosomal Dominant 29 WDFY3

Anatomical Context for Microcephaly 18, Primary, Autosomal Dominant

MalaCards organs/tissues related to Microcephaly 18, Primary, Autosomal Dominant:

41
Brain, Cortex

Publications for Microcephaly 18, Primary, Autosomal Dominant

Variations for Microcephaly 18, Primary, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 18, Primary, Autosomal Dominant:

75
# Symbol AA change Variation ID SNP ID
1 WDFY3 p.Arg2637Trp VAR_079130

ClinVar genetic disease variations for Microcephaly 18, Primary, Autosomal Dominant:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WDFY3 NM_014991.4(WDFY3): c.7909C> T (p.Arg2637Trp) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 84715350: 84715350
2 WDFY3 NM_014991.4(WDFY3): c.7909C> T (p.Arg2637Trp) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 85636503: 85636503

Expression for Microcephaly 18, Primary, Autosomal Dominant

Search GEO for disease gene expression data for Microcephaly 18, Primary, Autosomal Dominant.

Pathways for Microcephaly 18, Primary, Autosomal Dominant

GO Terms for Microcephaly 18, Primary, Autosomal Dominant

Cellular components related to Microcephaly 18, Primary, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.9 CDK5RAP2 CDK6 CENPE CENPJ CEP135 CEP152
2 microtubule organizing center GO:0005815 9.86 CDK5RAP2 CDK6 CENPJ CEP152 CEP63 MCPH1
3 centrosome GO:0005813 9.61 CDK5RAP2 CDK6 CENPJ CEP135 CEP152 CEP63
4 spindle pole GO:0000922 9.58 CDK5RAP2 CEP63 WDR62
5 pericentriolar material GO:0000242 9.43 CDK5RAP2 CEP152
6 deuterosome GO:0098536 9.32 CEP152 SASS6
7 centriole GO:0005814 9.17 CENPJ CEP135 CEP152 CEP63 SASS6 STIL
8 cytoplasm GO:0005737 10.23 CDK5RAP2 CDK6 CENPE CENPJ CEP135 CEP152
9 cytosol GO:0005829 10.15 CDK5RAP2 CDK6 CENPE CENPJ CEP135 CEP152

Biological processes related to Microcephaly 18, Primary, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.88 ANKLE2 CDK6 CENPE CEP63 KNL1 SASS6
2 cell division GO:0051301 9.85 ANKLE2 CDK6 CENPE CENPJ CEP63 KNL1
3 G2/M transition of mitotic cell cycle GO:0000086 9.72 CDK5RAP2 CENPJ CEP135 CEP152 CEP63
4 chromosome segregation GO:0007059 9.7 CDK5RAP2 CENPE KNL1
5 ciliary basal body-plasma membrane docking GO:0097711 9.65 CDK5RAP2 CENPJ CEP135 CEP152 CEP63
6 mitotic spindle organization GO:0007052 9.61 CENPE STIL WDR62
7 establishment of mitotic spindle orientation GO:0000132 9.55 CDK5RAP2 MCPH1
8 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.55 CDK5RAP2 CENPJ CEP135 CEP152 CEP63
9 protein localization to centrosome GO:0071539 9.54 MCPH1 STIL
10 positive regulation of non-motile cilium assembly GO:1902857 9.51 CENPJ CEP135
11 regulation of centriole replication GO:0046599 9.49 CENPJ STIL
12 de novo centriole assembly involved in multi-ciliated epithelial cell differentiation GO:0098535 9.48 CEP152 CEP63
13 positive regulation of establishment of protein localization GO:1904951 9.46 CENPJ CEP135
14 centrosome duplication GO:0051298 9.26 CENPJ CEP152 SASS6 STIL
15 centriole replication GO:0007099 9.17 CDK5RAP2 CENPJ CEP135 CEP152 CEP63 SASS6

Molecular functions related to Microcephaly 18, Primary, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.53 ANKLE2 CDK5RAP2 CDK6 CENPE CENPJ CEP135

Sources for Microcephaly 18, Primary, Autosomal Dominant

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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