MCPH15
MCID: MCR269
MIFTS: 24

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 57 74
Primary Autosomal Recessive Microcephaly 15 12 29 6
Mcph15 57 12 74
Microcephaly, Type 15, Primary, Autosomal Recessive 40

Characteristics:

OMIM:

57
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:

32
microcephaly 15, primary, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0070277
MeSH 44 D008831

Summaries for Microcephaly 15, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 74 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, is also known as primary autosomal recessive microcephaly 15. 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 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

Symptoms & Phenotypes for Microcephaly 15, Primary, Autosomal Recessive

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

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 hyperreflexia 32 HP:0001347
3 global developmental delay 32 HP:0001263
4 intellectual disability, severe 32 HP:0010864
5 generalized hypotonia 32 HP:0001290
6 absent speech 32 HP:0001344
7 inability to walk 32 HP:0002540
8 ventriculomegaly 32 HP:0002119
9 talipes equinovarus 32 HP:0001762
10 cerebellar hypoplasia 32 HP:0001321
11 upslanted palpebral fissure 32 HP:0000582
12 spastic gait 32 HP:0002064
13 hypoplasia of the corpus callosum 32 HP:0002079
14 spastic tetraparesis 32 HP:0001285
15 progressive microcephaly 32 HP:0000253
16 hypoplasia of the brainstem 32 HP:0002365

Symptoms via clinical synopsis from OMIM:

57
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

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:

41
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. 8 71
26005865 2015
2
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. 8 71
26005868 2015
3
Mfsd2a is a transporter for the essential omega-3 fatty acid docosahexaenoic acid. 8
24828044 2014
4
Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders 71
20301772 2009

Variations for Microcephaly 15, Primary, Autosomal Recessive

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MFSD2A NM_001136493.3(MFSD2A): c.515C> T (p.Thr172Met) single nucleotide variant Pathogenic rs1057517688 1:40431005-40431005 1:39965333-39965333
2 MFSD2A NM_001136493.3(MFSD2A): c.536C> T (p.Ser179Leu) single nucleotide variant Pathogenic rs1057517689 1:40431162-40431162 1:39965490-39965490
3 MFSD2A NM_001136493.3(MFSD2A): c.1055C> T (p.Ser352Leu) single nucleotide variant Pathogenic rs1057519087 1:40433304-40433304 1:39967632-39967632
4 MFSD2A NM_001136493.3(MFSD2A): c.1244C> A (p.Pro415His) single nucleotide variant Likely pathogenic 1:40433585-40433585 1:39967913-39967913
5 MFSD2A NM_001136493.3(MFSD2A): c.700G> A (p.Val234Ile) single nucleotide variant Uncertain significance rs1060499570 1:40431633-40431633 1:39965961-39965961

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

74
# 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

Sources for Microcephaly 15, Primary, Autosomal Recessive

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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28 GO
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30 HGMD
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34 ICD10 via Orphanet
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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