MCID: NRD031
MIFTS: 21

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

Categories: Genetic diseases, Neuronal diseases, Eye 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 75 29 6
Necfm 57 75
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:



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 microcephaly and broad nasal tip

UniProtKB/Swiss-Prot : 75 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...

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

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

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

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

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...

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:

75
# Symbol AA change Variation ID SNP ID
1 NACC1 p.Arg298Trp VAR_078808

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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