MCPH18
MCID: MCR322
MIFTS: 34

Microcephaly 18, Primary, Autosomal Dominant (MCPH18)

Categories: Eye diseases, 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 72 29 6
Mcph18 57 12 72
Primary Autosomal Dominant Microcephaly 18 12 15

Characteristics:

OMIM®:

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

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


HPO:

31
microcephaly 18, primary, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070295
OMIM® 57 617520
OMIM Phenotypic Series 57 PS251200
MeSH 44 D008831

Summaries for Microcephaly 18, Primary, Autosomal Dominant

UniProtKB/Swiss-Prot : 72 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 1 and seckel syndrome 2. 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 is Cell Cycle, Mitotic. Affiliated tissues include cortex and brain, and related phenotypes are microcephaly and intellectual disability, mild

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

More information from OMIM: 617520 PS251200

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 seckel syndrome 1 10.0 CEP152 CENPJ
2 seckel syndrome 2 9.9 MCPH1 CEP152 CENPJ
3 seckel syndrome 5 9.9 MCPH1 CEP152 CENPJ
4 band heterotopia 9.9 MCPH1 CENPJ ASPM
5 microcephaly 19, primary, autosomal recessive 9.9 WDFY3 SHISA5 CEP152
6 periventricular nodular heterotopia 9.9 MCPH1 CENPJ ASPM
7 corneal dystrophy, meesmann, 1 9.8 SASS6 CEP152
8 microcephaly 1, primary, autosomal recessive 9.8 MCPH1 CEP152 CENPJ ASPM
9 polyposis syndrome, hereditary mixed, 1 9.8 SASS6 CEP135
10 seckel syndrome 4 9.8 MCPH1 CEP152 CENPJ ASPM
11 microcephaly 8, primary, autosomal recessive 9.7 MCPH1 CEP152 CEP135 CENPJ
12 microcephaly 12, primary, autosomal recessive 9.7 MCPH1 CEP152 CEP135 CENPJ
13 microcephaly 16, primary, autosomal recessive 9.6 ZNF335 MFSD2A ANKLE2
14 microcephalic osteodysplastic primordial dwarfism, type ii 9.5 MCPH1 CEP152 CEP135 CENPJ ASPM
15 microcephaly 11, primary, autosomal recessive 9.5 ZNF335 MCPH1 CEP152 CEP135 CENPJ
16 physical disorder 9.5 MCPH1 CEP152 CEP135 CENPJ ASPM
17 microcephaly 10, primary, autosomal recessive 9.4 ZNF335 CEP152 CEP135 CENPJ ANKLE2
18 microcephaly 9, primary, autosomal recessive 9.4 SASS6 MCPH1 CEP152 CEP135 CENPJ
19 isolated growth hormone deficiency 9.4 SASS6 CEP152 CEP135 CENPJ ASPM
20 microcephaly 4, primary, autosomal recessive 9.3 ZNF335 MCPH1 CEP152 CEP135 CENPJ ASPM
21 microcephaly 5, primary, autosomal recessive 9.3 ZNF335 MCPH1 CEP152 CEP135 CENPJ ASPM
22 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 9.3 ZNF335 MCPH1 CEP152 CEP135 CENPJ ASPM
23 microcephaly 6, primary, autosomal recessive 9.3 ZNF335 MCPH1 CEP152 CEP135 CENPJ ASPM
24 microcephaly 13, primary, autosomal recessive 9.3 ZNF335 MFSD2A MCPH1 CEP152 ANKLE2
25 microcephaly 7, primary, autosomal recessive 9.2 SASS6 MCPH1 CEP152 CEP135 CENPJ ASPM
26 microcephaly 3, primary, autosomal recessive 9.2 SASS6 MCPH1 CEP152 CEP135 CENPJ ASPM
27 joubert syndrome 1 9.2 SASS6 CEP152 CEP135 CENPJ
28 isolated growth hormone deficiency, type ia 9.2 SASS6 MCPH1 CEP152 CEP135 CENPJ ASPM
29 neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities 9.2 ZNF335 SHISA5 MFSD2A CEP152 ANKLE2
30 primary microcephaly 9.2 SASS6 MCPH1 CEP152 CEP135 CENPJ ASPM
31 microcephaly 14, primary, autosomal recessive 9.1 ZNF335 SHISA5 SASS6 CEP152 CENPJ ANKLE2
32 seckel syndrome 9.0 SASS6 MCPH1 CEP152 CEP135 CENPJ ASPM
33 congenital nervous system abnormality 9.0 ZNF335 SASS6 MCPH1 CEP152 CEP135 CENPJ
34 microcephaly 17, primary, autosomal recessive 8.9 ZNF335 MFSD2A MCPH1 CEP152 CENPJ ASPM
35 microcephaly 8.2 ZNF335 WDFY3 SASS6 MFSD2A MCPH1 CEP152
36 primary autosomal recessive microcephaly 8.2 ZNF335 WDFY3 SASS6 MFSD2A MCPH1 CEP152

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

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

31
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 HP:0000252
2 intellectual disability, mild 31 HP:0001256
3 intellectual disability, moderate 31 HP:0002342

Symptoms via clinical synopsis from OMIM®:

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

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:

40
Cortex, Brain

Publications for Microcephaly 18, Primary, Autosomal Dominant

Articles related to Microcephaly 18, Primary, Autosomal Dominant:

# Title Authors PMID Year
1
ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size. 57 6
27008544 2016
2
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
3
Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH). 61
30086807 2018

Variations for Microcephaly 18, Primary, Autosomal Dominant

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

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WDFY3 NM_014991.5(WDFY3):c.7909C>T (p.Arg2637Trp) SNV Pathogenic 446237 rs1553924800 GRCh37: 4:85636503-85636503
GRCh38: 4:84715350-84715350
2 WDFY3 , WDFY3-AS1 NM_014991.6(WDFY3):c.2459_2460del (p.Pro820fs) Deletion Pathogenic 975777 GRCh37: 4:85724590-85724591
GRCh38: 4:84803437-84803438
3 WDFY3 NM_014991.6(WDFY3):c.6739_6740del (p.Cys2247fs) Deletion Pathogenic 1031852 GRCh37: 4:85658354-85658355
GRCh38: 4:84737201-84737202
4 WDFY3 NM_014991.6(WDFY3):c.8287C>T (p.Arg2763Ter) SNV Likely pathogenic 1029337 GRCh37: 4:85626595-85626595
GRCh38: 4:84705442-84705442
5 WDFY3 NM_014991.6(WDFY3):c.1670T>C (p.Leu557Pro) SNV Likely pathogenic 975778 GRCh37: 4:85741261-85741261
GRCh38: 4:84820108-84820108
6 WDFY3 NM_014991.6(WDFY3):c.957-2A>G SNV Likely pathogenic 982381 GRCh37: 4:85748136-85748136
GRCh38: 4:84826983-84826983
7 WDFY3 NM_014991.6(WDFY3):c.1150T>G (p.Phe384Val) SNV Uncertain significance 1027919 GRCh37: 4:85742678-85742678
GRCh38: 4:84821525-84821525
8 WDFY3 NM_014991.6(WDFY3):c.6398C>T (p.Pro2133Leu) SNV Uncertain significance 1027920 GRCh37: 4:85661406-85661406
GRCh38: 4:84740253-84740253
9 WDFY3 NM_014991.6(WDFY3):c.6619C>G (p.Leu2207Val) SNV Uncertain significance 1027921 GRCh37: 4:85658475-85658475
GRCh38: 4:84737322-84737322
10 WDFY3 NM_014991.6(WDFY3):c.7910G>A (p.Arg2637Gln) SNV Uncertain significance 1029336 GRCh37: 4:85636502-85636502
GRCh38: 4:84715349-84715349
11 WDFY3 NM_014991.6(WDFY3):c.6820T>C (p.Ser2274Pro) SNV Uncertain significance 976367 GRCh37: 4:85657418-85657418
GRCh38: 4:84736265-84736265
12 WDFY3 NM_014991.6(WDFY3):c.749A>G (p.Asn250Ser) SNV Uncertain significance 976391 GRCh37: 4:85752586-85752586
GRCh38: 4:84831433-84831433
13 WDFY3 NM_014991.6(WDFY3):c.9347C>A (p.Thr3116Asn) SNV Uncertain significance 1031853 GRCh37: 4:85611675-85611675
GRCh38: 4:84690522-84690522
14 WDFY3 NM_014991.6(WDFY3):c.10486C>T (p.Arg3496Cys) SNV Uncertain significance 1033721 GRCh37: 4:85594116-85594116
GRCh38: 4:84672963-84672963
15 WDFY3 NM_014991.6(WDFY3):c.1153G>A (p.Ala385Thr) SNV Likely benign 977887 GRCh37: 4:85742675-85742675
GRCh38: 4:84821522-84821522

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

72
# Symbol AA change Variation ID SNP ID
1 WDFY3 p.Arg2637Trp VAR_079130 rs155392480

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.18 MCPH1 CEP152 CEP135 CENPJ ANKLE2

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 9.73 SASS6 MCPH1 CEP152 CEP135 CENPJ ASPM
2 microtubule organizing center GO:0005815 9.62 SASS6 MCPH1 CEP152 CENPJ
3 centrosome GO:0005813 9.35 SASS6 CEP152 CEP135 CENPJ ASPM
4 deuterosome GO:0098536 9.16 SASS6 CEP152
5 centriole GO:0005814 8.92 SASS6 CEP152 CEP135 CENPJ

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

# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.63 ZNF335 MFSD2A ASPM
2 G2/M transition of mitotic cell cycle GO:0000086 9.54 CEP152 CEP135 CENPJ
3 positive regulation of neuroblast proliferation GO:0002052 9.43 ZNF335 ASPM
4 ciliary basal body-plasma membrane docking GO:0097711 9.43 CEP152 CEP135 CENPJ
5 neuronal stem cell population maintenance GO:0097150 9.4 MCPH1 ASPM
6 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.33 CEP152 CEP135 CENPJ
7 centrosome duplication GO:0051298 9.32 SASS6 CEP152
8 positive regulation of establishment of protein localization GO:1904951 8.96 CEP135 CENPJ
9 centriole replication GO:0007099 8.92 SASS6 CEP152 CEP135 CENPJ

Sources for Microcephaly 18, Primary, Autosomal Dominant

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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