NEDMEHM
MCID: NRD063
MIFTS: 10

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 58 6
Nedmehm 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 58 618367

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

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).

Description from OMIM: 618367

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

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

Symptoms via clinical synopsis from OMIM:

58
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...

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

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

# Title Authors Year
1
5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. ( 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 Assembly Location
1 MTHFS NM_006441.3(MTHFS): c.484C> T (p.Gln162Ter) single nucleotide variant Uncertain significance rs771379232 GRCh37 Chromosome 15, 80137680: 80137680
2 MTHFS NM_006441.3(MTHFS): c.484C> T (p.Gln162Ter) single nucleotide variant Uncertain significance rs771379232 GRCh38 Chromosome 15, 79845338: 79845338
3 MTHFS NM_006441.3(MTHFS): c.434G> A (p.Arg145Gln) single nucleotide variant Uncertain significance rs753635972 GRCh38 Chromosome 15, 79845388: 79845388
4 MTHFS NM_006441.3(MTHFS): c.434G> A (p.Arg145Gln) single nucleotide variant Uncertain significance rs753635972 GRCh37 Chromosome 15, 80137730: 80137730
5 MTHFS NM_006441.3(MTHFS): c.107T> C (p.Leu36Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 15, 79896882: 79896882
6 MTHFS NM_006441.3(MTHFS): c.107T> C (p.Leu36Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 15, 80189224: 80189224

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...

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

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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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31 HGMD
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35 ICD10 via Orphanet
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63 PubMed
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70 SNOMED-CT via HPO
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72 TGDB
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75 UMLS via Orphanet
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