MCPH15
MCID: MCR269
MIFTS: 33

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 phosphoglycerate dehydrogenase deficiency and microcephaly 9, primary, autosomal recessive. An important gene associated with Microcephaly 15, Primary, Autosomal Recessive is MFSD2A (Major Facilitator Superfamily Domain Containing 2A). Affiliated tissues include brain and cortex, and related phenotypes are global developmental delay and intellectual disability, severe

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 22)
# Related Disease Score Top Affiliating Genes
1 phosphoglycerate dehydrogenase deficiency 9.9 ZNF335 ANKLE2
2 microcephaly 9, primary, autosomal recessive 9.8 ZNF335 CEP152
3 microcephaly 11, primary, autosomal recessive 9.8 ZNF335 CEP152
4 microcephaly 7, primary, autosomal recessive 9.7 RTTN CEP152
5 microcephaly 4, primary, autosomal recessive 9.7 ZNF335 CEP152
6 microcephaly 12, primary, autosomal recessive 9.6 ZNF335 RTTN CEP152
7 microcephaly 3, primary, autosomal recessive 9.6 ZNF335 RTTN CEP152
8 microcephaly 5, primary, autosomal recessive 9.6 ZNF335 RTTN CEP152
9 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 9.5 ZNF335 RTTN CEP152
10 isolated growth hormone deficiency, type ia 9.5 ZNF335 RTTN CEP152
11 seckel syndrome 8 9.5 PGAP2 CEP152
12 congenital nervous system abnormality 9.5 ZNF335 CEP152
13 microcephaly 19, primary, autosomal recessive 9.5 SHISA5 RTTN CEP152
14 microcephaly 17, primary, autosomal recessive 9.4 ZNF335 MFSD2A CEP152 ANKLE2
15 microcephaly 10, primary, autosomal recessive 9.3 ZNF335 RTTN CEP152 ANKLE2
16 microcephaly 18, primary, autosomal dominant 9.3 ZNF335 SHISA5 CEP152 ANKLE2
17 primary microcephaly 9.3 ZNF335 RTTN CEP152 ANKLE2
18 microcephaly 9.1 ZNF335 RTTN MFSD2A CEP152 ANKLE2
19 microcephaly 13, primary, autosomal recessive 9.1 ZNF335 RTTN MFSD2A CEP152 ANKLE2
20 microcephaly 16, primary, autosomal recessive 8.5 ZNF335 RTTN PGAP2 MFSD2A ITGB3BP ANKLE2
21 primary autosomal recessive microcephaly 8.4 ZNF335 RTTN PGAP2 MFSD2A CEP152 ANKLE2
22 microcephaly 14, primary, autosomal recessive 7.9 ZNF335 SHISA5 RTTN PGAP2 ITGB3BP CEP152

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

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
intellectual disability, severe
absent speech
hyperreflexia
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

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

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. 6 56
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 – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301772 2009
5
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features. 61
32572202 2020

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

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 endoplasmic reticulum GO:0005783 9.26 SHISA5 PGAP2 MFSD2A ANKLE2
2 endoplasmic reticulum membrane GO:0005789 8.92 SHISA5 PGAP2 MFSD2A ANKLE2

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

# Name GO ID Score Top Affiliating Genes
1 centriole replication GO:0007099 8.62 RTTN CEP152

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
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
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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