NEDMCMS
MCID: NRD088
MIFTS: 17

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 6
Vandervore-Schot Syndrome 56
Nedmcms 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 56 618730

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 vandervore-schot syndrome. An important gene associated with Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity is TMX2 (Thioredoxin Related Transmembrane Protein 2). Affiliated tissues include brain.

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

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

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
spasticity
hyperreflexia
global developmental delay
spastic tetraplegia
hypoplasia of the corpus callosum
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...

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
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities. 56 6
31735293 2019
2
Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly. 56 6
31586943 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
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
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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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