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 58 76 30 6
Necfm 58 76
Severe Neurodevelopmental Disorder with Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract 60

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination:
Inheritance autosomal dominant inheritance


Classifications:



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

OMIM : 58 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 intellectual disability and seizures

UniProtKB/Swiss-Prot : 76 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:

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 seizures 33 HP:0001250
3 spasticity 33 HP:0001257
4 failure to thrive 33 HP:0001508
5 scoliosis 33 HP:0002650
6 cataract 33 HP:0000518
7 global developmental delay 33 HP:0001263
8 microcephaly 33 HP:0000252
9 flexion contracture 33 HP:0001371
10 stereotypy 33 HP:0000733
11 irritability 33 HP:0000737
12 feeding difficulties 33 HP:0011968
13 absent speech 33 HP:0001344
14 broad nasal tip 33 HP:0000455
15 difficulty walking 33 HP:0002355
16 generalized hypotonia 33 HP:0001290
17 cerebral atrophy 33 HP:0002059
18 poor head control 33 HP:0002421
19 delayed myelination 33 HP:0012448

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
difficulty walking
cerebral atrophy
delayed myelination
sleep disorder
more
Head And Neck Head:
microcephaly
poor head control

Head And Neck Nose:
broad nasal tip

Head And Neck Eyes:
cataracts
poor or absent visual tracking

Skeletal:
contractures (in 1 older patient)

Growth Other:
failure to thrive

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 30 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:

42
Brain, Eye

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

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

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

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

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

76
# Symbol AA change Variation ID SNP ID
1 NACC1 p.Arg298Trp VAR_078808 rs106050504

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NACC1 NM_052876.3(NACC1): c.892C> T (p.Arg298Trp) single nucleotide variant Pathogenic/Likely pathogenic rs1060505041 GRCh37 Chromosome 19, 13246913: 13246913
2 NACC1 NM_052876.3(NACC1): c.892C> T (p.Arg298Trp) single nucleotide variant Pathogenic/Likely pathogenic rs1060505041 GRCh38 Chromosome 19, 13136099: 13136099

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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