MCID: MCR269
MIFTS: 22

Microcephaly 15, Primary, Autosomal Recessive

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Mental 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 75
Primary Autosomal Recessive Microcephaly 15 29 6
Mcph15 57 75
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:
Onset and clinical course congenital onset progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephaly 15, Primary, Autosomal Recessive

UniProtKB/Swiss-Prot : 75 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

Description from OMIM: 616486

Symptoms & Phenotypes for Microcephaly 15, Primary, Autosomal Recessive

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

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 absent speech 32 HP:0001344
6 inability to walk 32 HP:0002540
7 ventriculomegaly 32 HP:0002119
8 cerebellar hypoplasia 32 HP:0001321
9 upslanted palpebral fissure 32 HP:0000582
10 talipes equinovarus 32 HP:0001762
11 spastic gait 32 HP:0002064
12 spastic tetraparesis 32 HP:0001285
13 hypoplasia of the corpus callosum 32 HP:0002079
14 generalized hypotonia 32 HP:0001290
15 progressive microcephaly 32 HP:0000253
16 hypoplasia of the brainstem 32 HP:0002365

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

Variations for Microcephaly 15, Primary, Autosomal Recessive

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

75
# Symbol AA change Variation ID SNP ID
1 MFSD2A p.Thr172Met VAR_074624 rs1057517688Microcephaly
2 MFSD2A p.Ser179Leu VAR_074625 rs1057517689Microcephaly
3 MFSD2A p.Ser352Leu VAR_074626 rs1057519087Microcephaly

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MFSD2A NM_032793.4(MFSD2A): c.476C> T (p.Thr159Met) single nucleotide variant Pathogenic rs1057517688 GRCh38 Chromosome 1, 39965333: 39965333
2 MFSD2A NM_032793.4(MFSD2A): c.476C> T (p.Thr159Met) single nucleotide variant Pathogenic rs1057517688 GRCh37 Chromosome 1, 40431005: 40431005
3 MFSD2A NM_032793.4(MFSD2A): c.497C> T (p.Ser166Leu) single nucleotide variant Pathogenic rs1057517689 GRCh38 Chromosome 1, 39965490: 39965490
4 MFSD2A NM_032793.4(MFSD2A): c.497C> T (p.Ser166Leu) single nucleotide variant Pathogenic rs1057517689 GRCh37 Chromosome 1, 40431162: 40431162
5 MFSD2A NM_032793.4(MFSD2A): c.1016C> T (p.Ser339Leu) single nucleotide variant Pathogenic rs1057519087 GRCh37 Chromosome 1, 40433304: 40433304
6 MFSD2A NM_032793.4(MFSD2A): c.1016C> T (p.Ser339Leu) single nucleotide variant Pathogenic rs1057519087 GRCh38 Chromosome 1, 39967632: 39967632
7 MFSD2A NM_001136493.2(MFSD2A): c.700G> A (p.Val234Ile) single nucleotide variant Uncertain significance rs1060499570 GRCh38 Chromosome 1, 39965961: 39965961
8 MFSD2A NM_001136493.2(MFSD2A): c.700G> A (p.Val234Ile) single nucleotide variant Uncertain significance rs1060499570 GRCh37 Chromosome 1, 40431633: 40431633

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

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74 UMLS via Orphanet
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