NEDMEHM
MCID: NRD063
MIFTS: 19

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 57 74 6
Nedmehm 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 618367
MeSH 44 D065886
MedGen 42 CN258265

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

UniProtKB/Swiss-Prot : 74 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:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 cerebral visual impairment 32 very rare (1%) HP:0100704
2 seizures 32 HP:0001250
3 spasticity 32 HP:0001257
4 global developmental delay 32 HP:0001263
5 microcephaly 32 HP:0000252
6 short stature 32 HP:0004322
7 feeding difficulties 32 HP:0011968
8 ventriculomegaly 32 HP:0002119
9 exaggerated startle response 32 HP:0002267
10 cerebellar atrophy 32 HP:0001272
11 poor speech 32 HP:0002465
12 delayed myelination 32 HP:0012448
13 cns hypomyelination 32 HP:0003429

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
spasticity
global developmental delay
exaggerated startle response
cerebellar atrophy
more
Growth Height:
short stature

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

Head And Neck Head:
microcephaly

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...

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

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

41
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. 8 71
30031689 2018

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

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MTHFS NM_001199758.1(MTHFS): c.-55+279T> C single nucleotide variant Pathogenic 15:80189224-80189224 15:79896882-79896882
2 MTHFS NM_001199758.1(MTHFS): c.313C> T (p.Gln105Ter) single nucleotide variant Likely pathogenic rs771379232 15:80137680-80137680 15:79845338-79845338
3 MTHFS NM_001199758.1(MTHFS): c.263G> A (p.Arg88Gln) single nucleotide variant Likely pathogenic rs753635972 15:80137730-80137730 15:79845388-79845388

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...

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....