NEDMCMS
MCID: NRD088
MIFTS: 22

Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity (NEDMCMS)

Categories: Genetic diseases, Neuronal diseases

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

MalaCards integrated aliases for Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity:

Name: Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity 56 73 29 6
Nedmcms 56 73
Vandervore-Schot Syndrome 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
progressive disorder
early death (in some patients)
seizures are usually refractory


HPO:

31
neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Neurodevelopmental Disorder with Microcephaly, Cortical...

OMIM : 56 Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity (NEDMCMS) is an autosomal recessive disorder characterized by severe to profound global developmental delay, early-onset seizures, microcephaly, and polymicrogyria and/or cerebral atrophy on brain imaging. Most affected individuals are unable to walk or speak and have profoundly impaired intellectual development, as well as axial hypotonia and peripheral spasticity. Rare individuals may be less severely affected (summary by Vandervore et al., 2019). (618730)

MalaCards based summary : Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity, is also known as nedmcms. An important gene associated with Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity is TMX2 (Thioredoxin Related Transmembrane Protein 2). Affiliated tissues include brain, and related phenotypes are global developmental delay and microcephaly

UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity: An autosomal recessive neurodevelopmental disorder characterized by developmental delay, severe to profound intellectual disability, congenital microcephaly, cortical polymicrogyria, lissencephaly, reduced central white matter volume, and drug-resistant epilepsy, lack of speech, absent ambulation and a progressive neurodegenerative course in most patients. Early death may occur in some patients.

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

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

Human phenotypes related to Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 microcephaly 31 very rare (1%) HP:0000252
3 spastic tetraplegia 31 very rare (1%) HP:0002510
4 intellectual disability, severe 31 very rare (1%) HP:0010864
5 hyperreflexia 31 very rare (1%) HP:0001347
6 ventriculomegaly 31 very rare (1%) HP:0002119
7 polymicrogyria 31 very rare (1%) HP:0002126
8 pachygyria 31 very rare (1%) HP:0001302
9 cerebellar atrophy 31 very rare (1%) HP:0001272
10 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
11 cerebral atrophy 31 very rare (1%) HP:0002059
12 hypoplasia of the brainstem 31 very rare (1%) HP:0002365
13 bilateral tonic-clonic seizure with generalized onset 31 very rare (1%) HP:0025190
14 cerebral white matter hypoplasia 31 HP:0012430

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
spasticity
spastic tetraplegia
hyperreflexia
pachygyria
more
Head And Neck Head:
microcephaly (down to -6.5 sd)

Muscle Soft Tissue:
axial hypotonia

Head And Neck Face:
dysmorphic features, mild, variable (in some patients)

Clinical features from OMIM:

618730

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

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity

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

Genetic tests related to Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity:

# Genetic test Affiliating Genes
1 Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity 29

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

MalaCards organs/tissues related to Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity:

40
Brain

Publications for Neurodevelopmental Disorder with Microcephaly, Cortical...

Articles related to Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity:

# Title Authors PMID Year
1
Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly. 6 56
31586943 2020
2
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities. 6 56
31735293 2019
3
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development. 56
26395554 2016

Variations for Neurodevelopmental Disorder with Microcephaly, Cortical...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TMX2 NM_015959.4(TMX2):c.164A>C (p.Asp55Ala)SNV Pathogenic 804367 11:57480254-57480254 11:57712782-57712782
2 TMX2 NM_015959.4(TMX2):c.391dup (p.Leu131fs)duplication Pathogenic 804368 11:57505845-57505846 11:57738373-57738374
3 TMX2 NM_015959.4(TMX2):c.757C>T (p.Arg253Ter)SNV Pathogenic 804369 11:57507583-57507583 11:57740111-57740111
4 TMX2 NM_015959.4(TMX2):c.614G>A (p.Arg205Gln)SNV Pathogenic 804370 11:57506511-57506511 11:57739039-57739039
5 TMX2 NM_015959.4(TMX2):c.157C>T (p.Arg53Cys)SNV Pathogenic 804371 11:57480247-57480247 11:57712775-57712775
6 TMX2 NM_015959.4(TMX2):c.609_614+15deldeletion Pathogenic 804372 11:57506505-57506525 11:57739033-57739053
7 TMX2 NM_015959.4(TMX2):c.166G>C (p.Gly56Arg)SNV Pathogenic 804373 11:57480256-57480256 11:57712784-57712784

Expression for Neurodevelopmental Disorder with Microcephaly, Cortical...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity.

Pathways for Neurodevelopmental Disorder with Microcephaly, Cortical...

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

Sources for Neurodevelopmental Disorder with Microcephaly, Cortical...

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
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44 MESH via Orphanet
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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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