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 global developmental delay and feeding difficulties in infancy

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 32, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
3 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
4 irritability 58 31 hallmark (90%) Very frequent (99-80%) HP:0000737
5 infantile muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008947
6 stereotypical hand wringing 58 31 hallmark (90%) Very frequent (99-80%) HP:0012171
7 seizure 31 hallmark (90%) HP:0001250
8 sleep disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0002360
9 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
10 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
11 intellectual disability, profound 58 31 frequent (33%) Frequent (79-30%) HP:0002187
12 hypsarrhythmia 58 31 frequent (33%) Frequent (79-30%) HP:0002521
13 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
14 developmental regression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002376
15 flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0001371
16 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
17 cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002059
18 broad nasal tip 58 31 occasional (7.5%) Occasional (29-5%) HP:0000455
19 juvenile cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0001118
20 cerebral white matter hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012430
21 apneic episodes in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0005949
22 delayed myelination 58 31 occasional (7.5%) Occasional (29-5%) HP:0012448
23 nasogastric tube feeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0040288
24 cataract 31 HP:0000518
25 intellectual disability 31 HP:0001249
26 seizures 58 Very frequent (99-80%)
27 stereotypy 31 HP:0000733
28 feeding difficulties 31 HP:0011968
29 absent speech 31 HP:0001344
30 poor head control 31 HP:0002421
31 generalized hypotonia 31 HP:0001290
32 difficulty walking 31 HP:0002355

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
cerebral atrophy
difficulty walking
delayed myelination
sleep disorder
more
Growth Other:
failure to thrive

Head And Neck Nose:
broad nasal tip

Head And Neck Eyes:
cataracts
poor or absent visual tracking

Skeletal:
contractures (in 1 older patient)

Head And Neck Head:
microcephaly
poor head control

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

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 NACC1

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
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
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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