NEDCPMD
MCID: NRD062
MIFTS: 21

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 56 73 6
Nedcpmd 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
onset in early infancy


HPO:

31
neurodevelopmental disorder with central and peripheral motor dysfunction:
Inheritance autosomal recessive inheritance


Classifications:



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

OMIM : 56 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 feeding difficulties

UniProtKB/Swiss-Prot : 73 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:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 seizures 31 very rare (1%) HP:0001250
2 feeding difficulties 31 very rare (1%) HP:0011968
3 microcephaly 31 very rare (1%) HP:0000252
4 decreased fetal movement 31 very rare (1%) HP:0001558
5 cerebellar atrophy 31 very rare (1%) HP:0001272
6 11 pairs of ribs 31 very rare (1%) HP:0000878
7 hypertelorism 31 HP:0000316
8 hyperreflexia 31 HP:0001347
9 failure to thrive 31 HP:0001508
10 dysarthria 31 HP:0001260
11 respiratory insufficiency 31 HP:0002093
12 global developmental delay 31 HP:0001263
13 wide nasal bridge 31 HP:0000431
14 hypertonia 31 HP:0001276
15 myoclonus 31 HP:0001336
16 glossoptosis 31 HP:0000162
17 cleft palate 31 HP:0000175
18 generalized hypotonia 31 HP:0001290
19 decreased nerve conduction velocity 31 HP:0000762
20 anxiety 31 HP:0000739
21 babinski sign 31 HP:0003487
22 dysmetria 31 HP:0001310
23 intention tremor 31 HP:0002080
24 prominent nasal bridge 31 HP:0000426
25 hyperextensibility of the finger joints 31 HP:0001187
26 aggressive behavior 31 HP:0000718
27 hyporeflexia 31 HP:0001265
28 dysdiadochokinesis 31 HP:0002075
29 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM:

56
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:
hyperreflexia
ataxia
dysarthria
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:

40
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. 56 6
30850329 2019
2
Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia. 56 6
30124836 2018
3
Expanding the genetic heterogeneity of intellectual disability. 56 6
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. 56
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NFASC NM_001005388.2(NFASC):c.1076G>C (p.Arg359Pro)SNV Pathogenic 620655 rs767453033 1:204939816-204939816 1:204970688-204970688
2 NFASC NM_001005388.2(NFASC):c.2470+2039C>TSNV Pathogenic 620656 rs755160624 1:204953187-204953187 1:204984059-204984059
3 NFASC NM_001005388.2(NFASC):c.3365T>A (p.Val1122Glu)SNV Pathogenic 620657 rs754724304 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 HMDB
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32 ICD10
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43 MeSH
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48 NCI
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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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