NEDAUS
MCID: NRD118
MIFTS: 16

Neurodevelopmental Disorder with or Without Autism or Seizures (NEDAUS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with or Without Autism or Seizures

MalaCards integrated aliases for Neurodevelopmental Disorder with or Without Autism or Seizures:

Name: Neurodevelopmental Disorder with or Without Autism or Seizures 57
Neurodevelopmental Disorder with Autism Without Seizures 6
Neurodevelopmental Disorder Without Autism with Seizures 6
Neurodevelopmental Disorder Without Autism or Seizures 6
Nedaus 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation
variable severity and phenotype


Classifications:



External Ids:

OMIM® 57 619239

Summaries for Neurodevelopmental Disorder with or Without Autism or Seizures

OMIM® : 57 Neurodevelopmental disorder with or without autism or seizures (NEDAUS) is characterized by global developmental delay apparent in infancy, impaired intellectual development, and speech delay. Some patients develop seizures, and may show regression after onset of seizures. Others have autistic features or behavioral abnormalities. Additional variable systemic features may also be present, such as cardiac defects, failure to thrive, or brain imaging anomalies (summary by Nakashima et al., 2020). (619239) (Updated 05-Apr-2021)

MalaCards based summary : Neurodevelopmental Disorder with or Without Autism or Seizures, is also known as neurodevelopmental disorder with autism without seizures. An important gene associated with Neurodevelopmental Disorder with or Without Autism or Seizures is CUL3 (Cullin 3). Affiliated tissues include brain.

Related Diseases for Neurodevelopmental Disorder with or Without Autism or Seizures

Symptoms & Phenotypes for Neurodevelopmental Disorder with or Without Autism or Seizures

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
autism spectrum disorder

Head And Neck Head:
microcephaly (in some patients)

Head And Neck Eyes:
poor visual contact (in some patients)

Neurologic Central Nervous System:
global developmental delay
status epilepticus
poor speech
seizures (in some patients)
delayed walking
more
Abdomen Gastrointestinal:
poor feeding

Cardiovascular Heart:
septal defects (in some patients)

Clinical features from OMIM®:

619239 (Updated 05-Apr-2021)

Drugs & Therapeutics for Neurodevelopmental Disorder with or Without Autism or Seizures

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with or Without Autism or Seizures

Genetic Tests for Neurodevelopmental Disorder with or Without Autism or Seizures

Anatomical Context for Neurodevelopmental Disorder with or Without Autism or Seizures

MalaCards organs/tissues related to Neurodevelopmental Disorder with or Without Autism or Seizures:

40
Brain

Publications for Neurodevelopmental Disorder with or Without Autism or Seizures

Articles related to Neurodevelopmental Disorder with or Without Autism or Seizures:

# Title Authors PMID Year
1
De novo variants in CUL3 are associated with global developmental delays with or without infantile spasms. 6 57
32341456 2020
2
Meta-Analyses Support Previous and Novel Autism Candidate Genes: Outcomes of an Unexplored Brazilian Cohort. 57 6
31696658 2020
3
On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing. 57 6
30311385 2018
4
A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder. 57
33097317 2021
5
CUL3 Deficiency Causes Social Deficits and Anxiety-like Behaviors by Impairing Excitation-Inhibition Balance through the Promotion of Cap-Dependent Translation. 57
31780330 2020
6
Rate of de novo mutations and the importance of father's age to disease risk. 57
22914163 2012

Variations for Neurodevelopmental Disorder with or Without Autism or Seizures

ClinVar genetic disease variations for Neurodevelopmental Disorder with or Without Autism or Seizures:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CUL3 NM_003590.5(CUL3):c.173A>G (p.Tyr58Cys) SNV Pathogenic 559557 rs1553535841 GRCh37: 2:225422467-225422467
GRCh38: 2:224557750-224557750
2 CUL3 NM_003590.5(CUL3):c.596C>G (p.Ser199Ter) SNV Pathogenic 1048101 GRCh37: 2:225378299-225378299
GRCh38: 2:224513582-224513582
3 CUL3 NM_003590.5(CUL3):c.854T>C (p.Val285Ala) SNV Pathogenic 1048102 GRCh37: 2:225376100-225376100
GRCh38: 2:224511383-224511383
4 CUL3 NM_003590.5(CUL3):c.137del (p.Arg46fs) Deletion Pathogenic 1048103 GRCh37: 2:225422503-225422503
GRCh38: 2:224557786-224557786
5 CUL3 NM_003590.5(CUL3):c.1239del (p.Asp413fs) Deletion Pathogenic 1048104 GRCh37: 2:225368507-225368507
GRCh38: 2:224503790-224503790

Expression for Neurodevelopmental Disorder with or Without Autism or Seizures

Search GEO for disease gene expression data for Neurodevelopmental Disorder with or Without Autism or Seizures.

Pathways for Neurodevelopmental Disorder with or Without Autism or Seizures

GO Terms for Neurodevelopmental Disorder with or Without Autism or Seizures

Sources for Neurodevelopmental Disorder with or Without Autism or Seizures

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....