NECFM
MCID: NRD031
MIFTS: 21

Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination (NECFM)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding...

MalaCards integrated aliases for Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination:

Name: Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 56 73 29 6
Necfm 56 73
Severe Neurodevelopmental Disorder with Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract 58

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
onset in first months of life
seizures are variably controlled


HPO:

31
neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases


Summaries for Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding...

OMIM : 56 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by Schoch et al., 2017). (617393)

MalaCards based summary : Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination, is also known as necfm. An important gene associated with Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination is NACC1 (Nucleus Accumbens Associated 1). Affiliated tissues include brain and eye, and related phenotypes are seizures and spasticity

UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination: A neurodevelopmental disorder characterized by microcephaly, profound developmental delay, intellectual disability, cataracts, severe epilepsy including infantile spasms, irritability, failure to thrive, and stereotypic hand movements. Brain imaging reveals delayed myelination and cerebral atrophy.

Related Diseases for Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding...

Human phenotypes related to Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination:

58 31 (showing 31, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 58 31 Very frequent (99-80%) HP:0001250
2 spasticity 58 31 Occasional (29-5%) HP:0001257
3 failure to thrive 58 31 Very frequent (99-80%) HP:0001508
4 scoliosis 58 31 Occasional (29-5%) HP:0002650
5 global developmental delay 58 31 Very frequent (99-80%) HP:0001263
6 microcephaly 58 31 Frequent (79-30%) HP:0000252
7 flexion contracture 58 31 Occasional (29-5%) HP:0001371
8 broad nasal tip 58 31 Occasional (29-5%) HP:0000455
9 irritability 58 31 Very frequent (99-80%) HP:0000737
10 delayed myelination 58 31 Occasional (29-5%) HP:0012448
11 cerebral atrophy 58 31 Occasional (29-5%) HP:0002059
12 intellectual disability 31 HP:0001249
13 sleep disturbance 58 Frequent (79-30%)
14 developmental regression 58 Occasional (29-5%)
15 cataract 31 HP:0000518
16 feeding difficulties 31 HP:0011968
17 feeding difficulties in infancy 58 Very frequent (99-80%)
18 stereotypy 31 HP:0000733
19 intellectual disability, severe 58 Frequent (79-30%)
20 generalized hypotonia 31 HP:0001290
21 nasogastric tube feeding 58 Occasional (29-5%)
22 absent speech 31 HP:0001344
23 apneic episodes in infancy 58 Occasional (29-5%)
24 infantile muscular hypotonia 58 Very frequent (99-80%)
25 hypsarrhythmia 58 Frequent (79-30%)
26 difficulty walking 31 HP:0002355
27 poor head control 31 HP:0002421
28 cerebral white matter hypoplasia 58 Occasional (29-5%)
29 intellectual disability, profound 58 Frequent (79-30%)
30 juvenile cataract 58 Occasional (29-5%)
31 stereotypical hand wringing 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
difficulty walking
delayed myelination
cerebral atrophy
sleep disorder
more
Head And Neck Head:
microcephaly
poor head control

Neurologic Behavioral Psychiatric Manifestations:
irritability
autistic features
stereotypic movements
repetitive movements
hand-flapping

Head And Neck Eyes:
cataracts
poor or absent visual tracking

Skeletal:
contractures (in 1 older patient)

Growth Other:
failure to thrive

Head And Neck Nose:
broad nasal tip

Muscle Soft Tissue:
hypotonia

Abdomen Gastrointestinal:
feeding difficulties, severe

Skeletal Spine:
scoliosis (in 1 older patient)

Clinical features from OMIM:

617393

Drugs & Therapeutics for Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination

Genetic Tests for Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding...

Genetic tests related to Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination:

# Genetic test Affiliating Genes
1 Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination 29

Anatomical Context for Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination:

40
Brain, Eye

Publications for Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding...

Articles related to Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination:

(showing 1, show less)
# Title Authors PMID Year
1
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay. 56 6
28132692 2017

Variations for Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination:

6 (showing 1, show less) ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NACC1 NM_052876.4(NACC1):c.892C>T (p.Arg298Trp)SNV Pathogenic/Likely pathogenic 417784 rs1060505041 19:13246913-13246913 19:13136099-13136099

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination:

73 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 NACC1 p.Arg298Trp VAR_078808 rs106050504

Expression for Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination.

Pathways for Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding...

GO Terms for Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding...

Sources for Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
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43 MeSH
44 MESH via Orphanet
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48 NCI
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50 NDF-RT
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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