NEDMISBA
MCID: NRD102
MIFTS: 33

Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities (NEDMISBA)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Progressive Microcephaly,...

MalaCards integrated aliases for Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities:

Name: Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities 57 12
Primary Autosomal Recessive Microcephaly 15 12 29 6 15
Mcph15 57 12 73
Microcephaly 15, Primary, Autosomal Recessive 57 73
Nedmisba 57 12
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Abnormalities 57
Microcephaly 15, Primary, Autosomal Recessive; Mcph15 57
Microcephaly, Type 15, Primary, Autosomal Recessive 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset at birth
variable phenotype and severity


HPO:

31
neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive congenital onset


Classifications:



Summaries for Neurodevelopmental Disorder with Progressive Microcephaly,...

OMIM® : 57 Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities (NEDMISBA) is an autosomal recessive disorder characterized by a spectrum of neurologic abnormalities apparent from early infancy. Affected individuals have impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity. Brain imaging usually shows abnormalities, including enlarged ventricles, white matter defects, and atrophy or hypoplasia of brain tissue. Some patients have a more severe phenotype with seizures, lack of developmental milestones, and early death (summary by Harel et al., 2018). (616486) (Updated 05-Mar-2021)

MalaCards based summary : Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities, also known as primary autosomal recessive microcephaly 15, is related to seckel syndrome 8 and microcephaly 18, primary, autosomal dominant. An important gene associated with Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities is MFSD2A (Major Facilitator Superfamily Domain Containing 2A). Affiliated tissues include brain and cortex, and related phenotypes are hyperreflexia and global developmental delay

Disease Ontology : 12 A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has material basis in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34.

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.

Related Diseases for Neurodevelopmental Disorder with Progressive Microcephaly,...

Diseases related to Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 seckel syndrome 8 9.9 PGAP2 CEP152
2 microcephaly 18, primary, autosomal dominant 9.8 ZNF335 CEP152 ANKLE2
3 microcephaly 10, primary, autosomal recessive 9.8 ZNF335 CEP152 ANKLE2
4 microcephaly 8, primary, autosomal recessive 9.7 STIL CEP152
5 microcephaly 12, primary, autosomal recessive 9.7 STIL CEP152
6 microcephaly 19, primary, autosomal recessive 9.7 SHISA5 RTTN CEP152
7 microcephaly 9, primary, autosomal recessive 9.7 STIL CEP152
8 microcephaly 6, primary, autosomal recessive 9.7 STIL CEP152
9 microcephaly 7, primary, autosomal recessive 9.6 STIL CEP152
10 microcephalic osteodysplastic primordial dwarfism, type ii 9.6 STIL CEP152
11 microcephaly 4, primary, autosomal recessive 9.5 ZNF335 STIL CEP152
12 physical disorder 9.5 STIL CEP152
13 congenital nervous system abnormality 9.5 ZNF335 STIL CEP152
14 periventricular nodular heterotopia 9.5 STIL RTTN
15 microcephaly 3, primary, autosomal recessive 9.5 STIL RTTN CEP152
16 isolated growth hormone deficiency, type ia 9.5 STIL RTTN CEP152
17 isolated growth hormone deficiency 9.5 STIL RTTN CEP152
18 primary microcephaly 9.5 STIL RTTN CEP152
19 seckel syndrome 9.4 STIL RTTN CEP152
20 microcephaly 16, primary, autosomal recessive 9.4 ZNF335 RTTN PGAP2 MFSD2A ANKLE2
21 microcephaly 13, primary, autosomal recessive 9.4 ZNF335 RTTN MFSD2A CEP152 ANKLE2
22 microcephaly 5, primary, autosomal recessive 9.3 ZNF335 STIL RTTN CEP152
23 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 9.3 ZNF335 STIL RTTN CEP152
24 autosomal recessive non-syndromic intellectual disability 9.3 STIL PGAP2 CEP152
25 microcephaly 17, primary, autosomal recessive 9.2 ZNF335 STIL MFSD2A CEP152 ANKLE2
26 microcephaly 8.9 ZNF335 STIL RTTN MFSD2A CEP152 ANKLE2
27 microcephaly 14, primary, autosomal recessive 8.8 ZNF335 STIL SHISA5 RTTN CEP152 ANKLE2
28 primary autosomal recessive microcephaly 8.6 ZNF335 STIL RTTN PGAP2 MFSD2A CEP152

Graphical network of the top 20 diseases related to Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities:



Diseases related to Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities

Symptoms & Phenotypes for Neurodevelopmental Disorder with Progressive Microcephaly,...

Human phenotypes related to Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 31 HP:0001347
2 global developmental delay 31 HP:0001263
3 intellectual disability, severe 31 HP:0010864
4 absent speech 31 HP:0001344
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®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
hyperreflexia
intellectual disability, severe
dystonia
cerebellar hypoplasia
spastic gait
more
Head And Neck Eyes:
upslanting palpebral fissures
esotropic strabismus

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

Skeletal Feet:
talipes equinovarus

Head And Neck Face:
dysmorphic features, mild

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

Clinical features from OMIM®:

616486 (Updated 05-Mar-2021)

Drugs & Therapeutics for Neurodevelopmental Disorder with Progressive Microcephaly,...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities

Genetic Tests for Neurodevelopmental Disorder with Progressive Microcephaly,...

Genetic tests related to Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities:

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

Anatomical Context for Neurodevelopmental Disorder with Progressive Microcephaly,...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities:

40
Brain, Cortex

Publications for Neurodevelopmental Disorder with Progressive Microcephaly,...

Articles related to Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities:

# Title Authors PMID Year
1
Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination. 6 57
30043326 2018
2
Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome. 57 6
26005868 2015
3
A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome. 57
26005865 2015
4
Mfsd2a is a transporter for the essential omega-3 fatty acid docosahexaenoic acid. 57
24828044 2014
5
Novel neuroclinical findings of autosomal recessive primary microcephaly 15 in a consanguineous Iranian family. 61
33186761 2020
6
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features. 61
32572202 2020

Variations for Neurodevelopmental Disorder with Progressive Microcephaly,...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MFSD2A NM_032793.5(MFSD2A):c.1016C>T (p.Ser339Leu) SNV Pathogenic 372262 rs1057519087 1:40433304-40433304 1:39967632-39967632
2 MFSD2A NM_032793.5(MFSD2A):c.476C>T (p.Thr159Met) SNV Pathogenic 372260 rs1057517688 1:40431005-40431005 1:39965333-39965333
3 MFSD2A NM_032793.5(MFSD2A):c.497C>T (p.Ser166Leu) SNV Pathogenic 372261 rs1057517689 1:40431162-40431162 1:39965490-39965490
4 MFSD2A NM_032793.5(MFSD2A):c.1205C>A (p.Pro402His) SNV Pathogenic/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 Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities:

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 Neurodevelopmental Disorder with Progressive Microcephaly,...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities.

Pathways for Neurodevelopmental Disorder with Progressive Microcephaly,...

GO Terms for Neurodevelopmental Disorder with Progressive Microcephaly,...

Cellular components related to Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.33 STIL RTTN CEP152
2 endoplasmic reticulum membrane GO:0005789 9.26 SHISA5 PGAP2 MFSD2A ANKLE2
3 centriole GO:0005814 8.8 STIL RTTN CEP152

Biological processes related to Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Imaging Abnormalities according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 determination of left/right symmetry GO:0007368 9.16 RTTN STIL
2 centriole replication GO:0007099 8.96 CEP152 RTTN
3 centrosome duplication GO:0051298 8.62 CEP152 STIL

Sources for Neurodevelopmental Disorder with Progressive Microcephaly,...

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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