NEDMEHM
MCID: NRD063
MIFTS: 22

Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination (NEDMEHM)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Microcephaly, Epilepsy, and...

MalaCards integrated aliases for Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination:

Name: Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination 56 73 29 6
Nedmehm 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth or early infancy
two unrelated patients have been reported (last curated march 2019)


HPO:

31
neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Neurodevelopmental Disorder with Microcephaly, Epilepsy, and...

UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination: An autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy, and characterized by microcephaly, short stature, severe global developmental delay, progressive spasticity, and epilepsy. Brain imaging shows delayed myelination, hypomyelination, enlarged ventricles, and cerebellar atrophy.

MalaCards based summary : Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination, is also known as nedmehm. An important gene associated with Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination is MTHFS (Methenyltetrahydrofolate Synthetase), and among its related pathways/superpathways is One carbon pool by folate. Affiliated tissues include brain, and related phenotypes are cerebral visual impairment and seizures

More information from OMIM: 618367

Related Diseases for Neurodevelopmental Disorder with Microcephaly, Epilepsy, and...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Microcephaly, Epilepsy, and...

Human phenotypes related to Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 cerebral visual impairment 31 very rare (1%) HP:0100704
2 seizures 31 HP:0001250
3 spasticity 31 HP:0001257
4 global developmental delay 31 HP:0001263
5 short stature 31 HP:0004322
6 feeding difficulties 31 HP:0011968
7 microcephaly 31 HP:0000252
8 ventriculomegaly 31 HP:0002119
9 poor speech 31 HP:0002465
10 exaggerated startle response 31 HP:0002267
11 cerebellar atrophy 31 HP:0001272
12 delayed myelination 31 HP:0012448
13 cns hypomyelination 31 HP:0003429

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
spasticity
global developmental delay
poor speech
exaggerated startle response
more
Head And Neck Head:
microcephaly

Head And Neck Eyes:
cortical visual impairment (1 patient)

Growth Height:
short stature

Abdomen Gastrointestinal:
poor feeding
tube feeding

Laboratory Abnormalities:
low-normal csf levels of 5-methyl-tetrahydrofolate (5-mthf)

Clinical features from OMIM:

618367

Drugs & Therapeutics for Neurodevelopmental Disorder with Microcephaly, Epilepsy, and...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination

Genetic Tests for Neurodevelopmental Disorder with Microcephaly, Epilepsy, and...

Genetic tests related to Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination:

# Genetic test Affiliating Genes
1 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination 29 MTHFS

Anatomical Context for Neurodevelopmental Disorder with Microcephaly, Epilepsy, and...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination:

40
Brain

Publications for Neurodevelopmental Disorder with Microcephaly, Epilepsy, and...

Articles related to Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination:

# Title Authors PMID Year
1
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. 56 6
30031689 2018

Variations for Neurodevelopmental Disorder with Microcephaly, Epilepsy, and...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MTHFS NM_001199758.1(MTHFS):c.-55+279T>CSNV Pathogenic 624594 rs1349638340 15:80189224-80189224 15:79896882-79896882
2 MTHFS NM_001199758.1(MTHFS):c.313C>T (p.Gln105Ter)SNV Likely pathogenic 522830 rs771379232 15:80137680-80137680 15:79845338-79845338
3 MTHFS NM_001199758.1(MTHFS):c.263G>A (p.Arg88Gln)SNV Likely pathogenic 522831 rs753635972 15:80137730-80137730 15:79845388-79845388

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination:

73
# Symbol AA change Variation ID SNP ID
1 MTHFS p.Leu36Pro VAR_082088
2 MTHFS p.Arg145Gln VAR_082089 rs753635972

Expression for Neurodevelopmental Disorder with Microcephaly, Epilepsy, and...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination.

Pathways for Neurodevelopmental Disorder with Microcephaly, Epilepsy, and...

Pathways related to Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.78 ST20-MTHFS MTHFS

GO Terms for Neurodevelopmental Disorder with Microcephaly, Epilepsy, and...

Cellular components related to Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.62 ST20-MTHFS MTHFS

Biological processes related to Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tetrahydrofolate interconversion GO:0035999 8.96 ST20-MTHFS MTHFS
2 folic acid-containing compound biosynthetic process GO:0009396 8.62 ST20-MTHFS MTHFS

Molecular functions related to Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 8.96 ST20-MTHFS MTHFS
2 5-formyltetrahydrofolate cyclo-ligase activity GO:0030272 8.62 ST20-MTHFS MTHFS

Sources for Neurodevelopmental Disorder with Microcephaly, Epilepsy, and...

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
41 MedGen
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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