NECFM
MCID: NRD031
MIFTS: 19

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 57 74 29 6
Necfm 57 74
Severe Neurodevelopmental Disorder with Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract 59

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 617393
MeSH 44 D065886
Orphanet 59 ORPHA500545

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

OMIM : 57 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 : 74 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:

32 (showing 19, show less)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 spasticity 32 HP:0001257
4 failure to thrive 32 HP:0001508
5 scoliosis 32 HP:0002650
6 cataract 32 HP:0000518
7 global developmental delay 32 HP:0001263
8 microcephaly 32 HP:0000252
9 flexion contracture 32 HP:0001371
10 stereotypy 32 HP:0000733
11 broad nasal tip 32 HP:0000455
12 generalized hypotonia 32 HP:0001290
13 feeding difficulties 32 HP:0011968
14 irritability 32 HP:0000737
15 absent speech 32 HP:0001344
16 difficulty walking 32 HP:0002355
17 poor head control 32 HP:0002421
18 cerebral atrophy 32 HP:0002059
19 delayed myelination 32 HP:0012448

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
difficulty walking
cerebral atrophy
delayed myelination
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 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:

41
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. 8 71
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 Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NACC1 NM_052876.3(NACC1): c.892C> T (p.Arg298Trp) single nucleotide variant Pathogenic/Likely pathogenic 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:

74 (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 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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