MCPH15
MCID: MCR269
MIFTS: 40

Microcephaly 15, Primary, Autosomal Recessive (MCPH15)

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

Aliases & Classifications for Microcephaly 15, Primary, Autosomal Recessive

MalaCards integrated aliases for Microcephaly 15, Primary, Autosomal Recessive:

Name: Microcephaly 15, Primary, Autosomal Recessive 56 73
Primary Autosomal Recessive Microcephaly 15 12 29 6 15
Mcph15 56 12 73
Microcephaly, Type 15, Primary, Autosomal Recessive 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset at birth
three unrelated consanguineous families (libyan, egyptian, and pakistani origin) have been reported (last curated july 2015)
families a and b had a more severe phenotype resulting in death in early childhood
family c had a milder phenotype with survival into adulthood


HPO:

31
microcephaly 15, primary, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive congenital onset


Classifications:



Summaries for Microcephaly 15, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 73 Microcephaly 15, primary, autosomal recessive: 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.

MalaCards based summary : Microcephaly 15, Primary, Autosomal Recessive, also known as primary autosomal recessive microcephaly 15, is related to seckel syndrome 8 and lissencephaly 2. An important gene associated with Microcephaly 15, Primary, Autosomal Recessive is MFSD2A (Major Facilitator Superfamily Domain Containing 2A), and among its related pathways/superpathways is Cell Cycle, Mitotic. Affiliated tissues include brain, cortex and eye, and related phenotypes are seizures and hyperreflexia

Disease Ontology : 12 A primary autosomal recessive microcephaly that has material basis in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34.

More information from OMIM: 616486 PS251200

Related Diseases for Microcephaly 15, 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 Microcephaly 24, Primary, Autosomal Recessive
Microcephaly 25, Primary, Autosomal Recessive Primary Autosomal Recessive Microcephaly
Primary Microcephaly

Diseases related to Microcephaly 15, Primary, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 seckel syndrome 8 10.1 PGAP2 CEP152
2 lissencephaly 2 9.9 WDR62 CEP152
3 microcephaly 16, primary, autosomal recessive 9.9 ZNF335 RTTN PGAP2 ITGB3BP ANKLE2
4 microcephaly 13, primary, autosomal recessive 9.8 ZNF335 WDR62 RTTN ITGB3BP ANKLE2
5 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 9.7 RTTN ASPM
6 seckel syndrome 1 9.7 CEP152 CENPJ
7 seckel syndrome 2 9.7 CEP152 CENPJ CDK5RAP2
8 microcephaly 10, primary, autosomal recessive 9.6 ZNF335 WDR62 PHC1 CEP152 CEP135
9 microcephaly 14, primary, autosomal recessive 9.6 ZNF335 SASS6 RTTN PGAP2 ITGB3BP ANKLE2
10 microcephaly 18, primary, autosomal dominant 9.6 ZNF335 CEP152 CEP135 CENPJ ANKLE2
11 seckel syndrome 5 9.6 MCPH1 CEP152 CENPJ
12 seckel syndrome 4 9.6 MCPH1 CEP152 CENPJ
13 meier-gorlin syndrome 1 9.3 ZNF335 WDR62 SASS6 CEP152 CEP135 CENPJ
14 microcephaly 9, primary, autosomal recessive 9.0 ZNF335 WDR62 STIL KNL1 CEP152 CEP135
15 microcephaly 1, primary, autosomal recessive 9.0 MCPH1 CEP152 CENPJ ASPM
16 joubert syndrome 1 8.9 SASS6 MCPH1 CEP152 CENPJ CDK5RAP2
17 microcephaly 8, primary, autosomal recessive 8.6 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
18 autosomal recessive non-syndromic intellectual disability 8.6 WDR62 STIL PGAP2 MCPH1 CEP152 CEP135
19 microcephaly 11, primary, autosomal recessive 8.6 ZNF335 WDR62 PHC1 MCPH1 CEP152 CEP135
20 microcephalic osteodysplastic primordial dwarfism, type ii 8.2 STIL MCPH1 CEP152 CEP135 CENPJ CDK5RAP2
21 microcephaly 17, primary, autosomal recessive 8.2 WDR62 STIL MCPH1 CEP152 CENPJ CDK5RAP2
22 periventricular nodular heterotopia 8.2 WDR62 STIL RTTN MCPH1 CENPJ CDK5RAP2
23 microcephaly 12, primary, autosomal recessive 8.1 ZNF335 WDR62 STIL MCPH1 KNL1 CEP152
24 microcephaly 6, primary, autosomal recessive 8.0 WDR62 STIL MCPH1 CEP152 CEP135 CENPJ
25 physical disorder 7.9 WDR62 STIL MCPH1 CEP152 CEP135 CENPJ
26 microcephaly 7, primary, autosomal recessive 7.7 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
27 microcephaly 3, primary, autosomal recessive 7.7 WDR62 STIL MCPH1 KNL1 CEP152 CEP135
28 congenital nervous system abnormality 7.5 ZNF335 WDR62 STIL SASS6 MCPH1 CEP152
29 microcephaly 4, primary, autosomal recessive 7.5 ZNF335 WDR62 STIL MCPH1 KNL1 CEP152
30 isolated growth hormone deficiency, type ia 7.3 ZNF335 WDR62 STIL SASS6 RTTN MCPH1
31 microcephaly 5, primary, autosomal recessive 7.3 ZNF335 WDR62 STIL PHC1 MCPH1 KNL1
32 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 7.3 ZNF335 WDR62 STIL PHC1 MCPH1 KNL1
33 seckel syndrome 6.6 WDR62 STIL SASS6 RTTN PHC1 MCPH1
34 primary microcephaly 6.2 ZNF335 WDR62 STIL SASS6 RTTN PHC1
35 microcephaly 6.0 ZNF335 WDR62 STIL SASS6 RTTN PHC1
36 primary autosomal recessive microcephaly 5.8 ZNF335 WDR62 STIL SASS6 RTTN PHC1

Graphical network of the top 20 diseases related to Microcephaly 15, Primary, Autosomal Recessive:



Diseases related to Microcephaly 15, Primary, Autosomal Recessive

Symptoms & Phenotypes for Microcephaly 15, Primary, Autosomal Recessive

Human phenotypes related to Microcephaly 15, Primary, Autosomal Recessive:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 hyperreflexia 31 HP:0001347
3 global developmental delay 31 HP:0001263
4 hypoplasia of the brainstem 31 HP:0002365
5 intellectual disability, severe 31 HP:0010864
6 generalized hypotonia 31 HP:0001290
7 absent speech 31 HP:0001344
8 inability to walk 31 HP:0002540
9 ventriculomegaly 31 HP:0002119
10 talipes equinovarus 31 HP:0001762
11 cerebellar hypoplasia 31 HP:0001321
12 upslanted palpebral fissure 31 HP:0000582
13 hypoplasia of the corpus callosum 31 HP:0002079
14 spastic gait 31 HP:0002064
15 spastic tetraparesis 31 HP:0001285
16 progressive microcephaly 31 HP:0000253

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
intellectual disability, severe
absent speech
dilated ventricles
delayed psychomotor development, severe
more
Head And Neck Eyes:
upslanting palpebral fissures (family c)

Muscle Soft Tissue:
hypotonia (families a and b)

Laboratory Abnormalities:
increased plasma lysophosphatidylcholines (lpcs) containing mono- and polyunsaturated fatty acyl chains

Head And Neck Head:
microcephaly, progressive (up to -6.2 sd)

Skeletal Feet:
talipes equinovarus (families a and b)

Neurologic Behavioral Psychiatric Manifestations:
autistic features (families a and b)

Clinical features from OMIM:

616486

MGI Mouse Phenotypes related to Microcephaly 15, Primary, Autosomal Recessive:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.15 ASPM CDK5RAP2 CDK6 CENPJ CEP135 KNL1
2 cellular MP:0005384 10.1 ASPM CDK5RAP2 CDK6 CENPJ CEP152 KNL1
3 hematopoietic system MP:0005397 10.06 ASPM CDK5RAP2 CDK6 CENPJ KNL1 MCPH1
4 immune system MP:0005387 10 ASPM CDK5RAP2 CDK6 CENPJ KNL1 MCPH1
5 mortality/aging MP:0010768 9.93 ANKLE2 CDK5RAP2 CDK6 CENPJ CEP135 KNL1
6 nervous system MP:0003631 9.73 ASPM CDK5RAP2 CDK6 CENPJ CEP152 KNL1
7 vision/eye MP:0005391 9.23 CDK5RAP2 CDK6 CENPJ CEP135 MCPH1 MFSD2A

Drugs & Therapeutics for Microcephaly 15, Primary, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Microcephaly 15, Primary, Autosomal Recessive

Genetic Tests for Microcephaly 15, Primary, Autosomal Recessive

Genetic tests related to Microcephaly 15, Primary, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Primary Autosomal Recessive Microcephaly 15 29 MFSD2A

Anatomical Context for Microcephaly 15, Primary, Autosomal Recessive

MalaCards organs/tissues related to Microcephaly 15, Primary, Autosomal Recessive:

40
Brain, Cortex, Eye

Publications for Microcephaly 15, Primary, Autosomal Recessive

Articles related to Microcephaly 15, Primary, Autosomal Recessive:

# Title Authors PMID Year
1
A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. 56 6
26005865 2015
2
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. 56 6
26005868 2015
3
Mfsd2a is a transporter for the essential omega-3 fatty acid docosahexaenoic acid. 56
24828044 2014
4
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders 6
20301772 2009

Variations for Microcephaly 15, Primary, Autosomal Recessive

ClinVar genetic disease variations for Microcephaly 15, Primary, Autosomal Recessive:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MFSD2A NM_032793.5(MFSD2A):c.476C>T (p.Thr159Met)SNV Pathogenic 372260 rs1057517688 1:40431005-40431005 1:39965333-39965333
2 MFSD2A NM_032793.5(MFSD2A):c.497C>T (p.Ser166Leu)SNV Pathogenic 372261 rs1057517689 1:40431162-40431162 1:39965490-39965490
3 MFSD2A NM_032793.5(MFSD2A):c.1016C>T (p.Ser339Leu)SNV Pathogenic 372262 rs1057519087 1:40433304-40433304 1:39967632-39967632
4 MFSD2A NM_032793.5(MFSD2A):c.1205C>A (p.Pro402His)SNV Likely pathogenic 522579 rs571640983 1:40433585-40433585 1:39967913-39967913
5 MFSD2A NM_032793.5(MFSD2A):c.661G>A (p.Val221Ile)SNV Uncertain significance 417866 rs1060499570 1:40431633-40431633 1:39965961-39965961

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly 15, Primary, Autosomal Recessive:

73
# Symbol AA change Variation ID SNP ID
1 MFSD2A p.Thr172Met VAR_074624 rs105751768
2 MFSD2A p.Ser179Leu VAR_074625 rs105751768
3 MFSD2A p.Ser352Leu VAR_074626 rs105751908

Expression for Microcephaly 15, Primary, Autosomal Recessive

Search GEO for disease gene expression data for Microcephaly 15, Primary, Autosomal Recessive.

Pathways for Microcephaly 15, Primary, Autosomal Recessive

Pathways related to Microcephaly 15, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.44 MCPH1 KNL1 ITGB3BP CEP152 CEP135 CENPJ

GO Terms for Microcephaly 15, Primary, Autosomal Recessive

Cellular components related to Microcephaly 15, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.9 WDR62 STIL SASS6 RTTN MCPH1 CEP152
2 microtubule organizing center GO:0005815 9.86 WDR62 SASS6 RTTN MCPH1 CEP152 CENPJ
3 centriole GO:0005814 9.5 WDR62 STIL SASS6 RTTN CEP152 CEP135
4 mitotic spindle pole GO:0097431 9.4 CDK5RAP2 ASPM
5 pericentriolar material GO:0000242 9.37 CEP152 CDK5RAP2
6 deuterosome GO:0098536 9.32 SASS6 CEP152
7 centrosome GO:0005813 9.32 WDR62 STIL SASS6 RTTN CEP152 CEP135

Biological processes related to Microcephaly 15, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.88 SASS6 KNL1 ITGB3BP CDK6 ASPM ANKLE2
2 G2/M transition of mitotic cell cycle GO:0000086 9.67 CEP152 CEP135 CENPJ CDK5RAP2
3 cerebral cortex development GO:0021987 9.65 WDR62 MCPH1 ASPM
4 cell division GO:0051301 9.63 KNL1 ITGB3BP CENPJ CDK6 ASPM ANKLE2
5 ciliary basal body-plasma membrane docking GO:0097711 9.62 CEP152 CEP135 CENPJ CDK5RAP2
6 establishment of mitotic spindle orientation GO:0000132 9.56 MCPH1 CDK5RAP2
7 regulation of G2/M transition of mitotic cell cycle GO:0010389 9.56 CEP152 CEP135 CENPJ CDK5RAP2
8 positive regulation of neuroblast proliferation GO:0002052 9.55 ZNF335 ASPM
9 neuronal stem cell population maintenance GO:0097150 9.54 MCPH1 ASPM
10 protein localization to centrosome GO:0071539 9.52 STIL MCPH1
11 centriole-centriole cohesion GO:0010457 9.51 RTTN CEP135
12 regulation of centriole replication GO:0046599 9.49 STIL CENPJ
13 positive regulation of non-motile cilium assembly GO:1902857 9.46 CEP135 CENPJ
14 positive regulation of establishment of protein localization GO:1904951 9.43 CEP135 CENPJ
15 centrosome duplication GO:0051298 9.26 STIL SASS6 CEP152 CENPJ
16 centriole replication GO:0007099 9.17 WDR62 SASS6 RTTN CEP152 CEP135 CENPJ

Molecular functions related to Microcephaly 15, Primary, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.53 ZNF335 WDR62 STIL SASS6 PHC1 PGAP2

Sources for Microcephaly 15, Primary, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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