NEDCPMD
MCID: NRD062
MIFTS: 19

Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction (NEDCPMD)

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 57 74 6
Nedcpmd 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
onset in early infancy


HPO:

32
neurodevelopmental disorder with central and peripheral motor dysfunction:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 618356
MedGen 42 CN258246

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

OMIM : 57 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, and related phenotypes are seizures and microcephaly

UniProtKB/Swiss-Prot : 74 Neurodevelopmental disorder with central and peripheral motor dysfunction: An autosomal recessive neurodevelopmental disorder with early onset and a highly variable phenotype. Disease features include hypotonia apparent from birth, poor feeding, global developmental delay with absence of reaction to touch and no eye contact, infantile-onset progressive ataxia and demyelinating peripheral neuropathy.

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

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

Human phenotypes related to Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction:

32 (show all 29)
# Description HPO Frequency HPO Source Accession
1 seizures 32 very rare (1%) HP:0001250
2 microcephaly 32 very rare (1%) HP:0000252
3 feeding difficulties 32 very rare (1%) HP:0011968
4 decreased fetal movement 32 very rare (1%) HP:0001558
5 cerebellar atrophy 32 very rare (1%) HP:0001272
6 11 pairs of ribs 32 very rare (1%) HP:0000878
7 hypertelorism 32 HP:0000316
8 dysarthria 32 HP:0001260
9 hyperreflexia 32 HP:0001347
10 failure to thrive 32 HP:0001508
11 respiratory insufficiency 32 HP:0002093
12 global developmental delay 32 HP:0001263
13 wide nasal bridge 32 HP:0000431
14 hypertonia 32 HP:0001276
15 glossoptosis 32 HP:0000162
16 cleft palate 32 HP:0000175
17 generalized hypotonia 32 HP:0001290
18 decreased nerve conduction velocity 32 HP:0000762
19 myoclonus 32 HP:0001336
20 anxiety 32 HP:0000739
21 babinski sign 32 HP:0003487
22 dysmetria 32 HP:0001310
23 intention tremor 32 HP:0002080
24 prominent nasal bridge 32 HP:0000426
25 aggressive behavior 32 HP:0000718
26 dysdiadochokinesis 32 HP:0002075
27 hyporeflexia 32 HP:0001265
28 hyperextensibility of the finger joints 32 HP:0001187
29 delayed ability to walk 32 HP:0031936

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
saccadic pursuit
poor or absent eye contact (in some patients)

Growth Other:
failure to thrive
poor overall growth

Head And Neck Nose:
wide nasal bridge
high nasal bridge

Head And Neck Mouth:
glossoptosis
cleft palate

Neurologic Peripheral Nervous System:
hyporeflexia
decreased nerve conduction velocities
demyelinating sensorimotor polyneuropathy (in some patients)

Prenatal Manifestations Movement:
decreased fetal movements (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
11 pairs of ribs (in some patients)

Head And Neck Face:
dysmorphic facial features (in some patients) micrognathia

Neurologic Central Nervous System:
ataxia
dysarthria
hyperreflexia
global developmental delay
dysmetria
more
Respiratory:
respiratory insufficiency

Muscle Soft Tissue:
hypertonia
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
anxiety
aggression

Skeletal Hands:
hyperextensible fingers
long thin fingers

Abdomen Gastrointestinal:
poor feeding (in some patients)
tube feeding (in some patients)

Head And Neck Head:
small head circumference (in some patients)

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:

41
Eye

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

Articles related to Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction:

# Title Authors PMID Year
1
Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy. 8 71
30850329 2019
2
Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia. 8 71
30124836 2018
3
Expanding the genetic heterogeneity of intellectual disability. 8 71
28940097 2017
4
Spatiotemporal ablation of myelinating glia-specific neurofascin (Nfasc NF155) in mice reveals gradual loss of paranodal axoglial junctions and concomitant disorganization of axonal domains. 8
19185024 2009

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 GRCh37 Pos GRCh38 Pos
1 NFASC NM_001005388.2(NFASC): c.1076G> C (p.Arg359Pro) single nucleotide variant Pathogenic 1:204939816-204939816 1:204970688-204970688
2 NFASC NM_001005388.2(NFASC): c.2470+2039C> T single nucleotide variant Pathogenic 1:204953187-204953187 1:204984059-204984059
3 NFASC NM_001005388.2(NFASC): c.3365T> A (p.Val1122Glu) single nucleotide variant Pathogenic 1:204978760-204978760 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...

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
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