MCID: NRD062
MIFTS: 8

Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Central and Peripheral Motor...

MalaCards integrated aliases for Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction:

Name: Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction 58 6
Nedcpmd 58

Classifications:



External Ids:

OMIM 58 618356

Summaries for Neurodevelopmental Disorder with Central and Peripheral Motor...

OMIM : 58 Neurodevelopmental disorder with central and peripheral motor dysfunction (NEDCPMD) is an autosomal recessive neurologic disorder with a highly variable phenotype. At the severe end of the spectrum, patients may have hypotonia apparent from birth, necessitating mechanical respiration and tube-feeding, and global developmental delay with absence of reaction to touch and no eye contact. At the mild end of the spectrum, patients may present with infantile-onset progressive ataxia and demyelinating peripheral neuropathy. The disorder is caused by mutation in the NFASC gene, which has several neuronal- and glial-specific transcripts. The variable clinical phenotype may be caused by several factors, including the severity of the mutation, the selective involvement of distinct isoforms by pathogenic variants, and the presence of genetic modifiers (summary by Monfrini et al., 2019). (618356)

MalaCards based summary : Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction, is also known as nedcpmd. An important gene associated with Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction is NFASC (Neurofascin). Affiliated tissues include eye.

Related Diseases for Neurodevelopmental Disorder with Central and Peripheral Motor...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Central and Peripheral Motor...

Clinical features from OMIM:

618356

Drugs & Therapeutics for Neurodevelopmental Disorder with Central and Peripheral Motor...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction

Genetic Tests for Neurodevelopmental Disorder with Central and Peripheral Motor...

Anatomical Context for Neurodevelopmental Disorder with Central and Peripheral Motor...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction:

42
Eye

Publications for Neurodevelopmental Disorder with Central and Peripheral Motor...

Variations for Neurodevelopmental Disorder with Central and Peripheral Motor...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NFASC NM_001005388.2(NFASC): c.1076G> C (p.Arg359Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 204970688: 204970688
2 NFASC NM_001005388.2(NFASC): c.1076G> C (p.Arg359Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 204939816: 204939816
3 NFASC NM_001160331.1(NFASC): c.2536C> T (p.Arg846Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 204984059: 204984059
4 NFASC NM_001160331.1(NFASC): c.2536C> T (p.Arg846Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 204953187: 204953187
5 NFASC NM_001005388.2(NFASC): c.3365T> A (p.Val1122Glu) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 204978760: 204978760
6 NFASC NM_001005388.2(NFASC): c.3365T> A (p.Val1122Glu) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 205009632: 205009632

Expression for Neurodevelopmental Disorder with Central and Peripheral Motor...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction.

Pathways for Neurodevelopmental Disorder with Central and Peripheral Motor...

GO Terms for Neurodevelopmental Disorder with Central and Peripheral Motor...

Sources for Neurodevelopmental Disorder with Central and Peripheral Motor...

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