NEDASB
MCID: NRD095
MIFTS: 11

Neurodevelopmental Disorder with or Without Autistic Features and/or Structural Brain Abnormalities (NEDASB)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with or Without Autistic Features...

MalaCards integrated aliases for Neurodevelopmental Disorder with or Without Autistic Features and/or Structural Brain Abnormalities:

Name: Neurodevelopmental Disorder with or Without Autistic Features and/or Structural Brain Abnormalities 56 6
Nedasb 56

Classifications:



External Ids:

OMIM 56 618859

Summaries for Neurodevelopmental Disorder with or Without Autistic Features...

OMIM : 56 Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NEDASB) is an early-onset neurologic disorder characterized by global developmental delay, poor or absent speech and language development, and behavioral abnormalities reminiscent of autism spectrum disorder (ASD; 209850) or Angelman syndrome (AS; 105830). Additional features may include poor overall growth with small head circumference, axial hypotonia, spasticity, and seizures. Some patients have abnormal findings on brain imaging, including cerebral atrophy, cerebellar atrophy, and/or thin corpus callosum (summary by Mattioli et al., 2020). (618859)

MalaCards based summary : Neurodevelopmental Disorder with or Without Autistic Features and/or Structural Brain Abnormalities, is also known as nedasb. An important gene associated with Neurodevelopmental Disorder with or Without Autistic Features and/or Structural Brain Abnormalities is NOVA2 (NOVA Alternative Splicing Regulator 2). Affiliated tissues include brain.

Related Diseases for Neurodevelopmental Disorder with or Without Autistic Features...

Symptoms & Phenotypes for Neurodevelopmental Disorder with or Without Autistic Features...

Clinical features from OMIM:

618859

Drugs & Therapeutics for Neurodevelopmental Disorder with or Without Autistic Features...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with or Without Autistic Features and/or Structural Brain Abnormalities

Genetic Tests for Neurodevelopmental Disorder with or Without Autistic Features...

Anatomical Context for Neurodevelopmental Disorder with or Without Autistic Features...

MalaCards organs/tissues related to Neurodevelopmental Disorder with or Without Autistic Features and/or Structural Brain Abnormalities:

40
Brain

Publications for Neurodevelopmental Disorder with or Without Autistic Features...

Articles related to Neurodevelopmental Disorder with or Without Autistic Features and/or Structural Brain Abnormalities:

# Title Authors PMID Year
1
De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder. 56 6
32197073 2020

Variations for Neurodevelopmental Disorder with or Without Autistic Features...

ClinVar genetic disease variations for Neurodevelopmental Disorder with or Without Autistic Features and/or Structural Brain Abnormalities:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NOVA2 NM_002516.4(NOVA2):c.782del (p.Val261fs)deletion Pathogenic 812085 19:46443818-46443818 19:45940560-45940560
2 NOVA2 NM_002516.4(NOVA2):c.708_709TG[3] (p.Leu238fs)short repeat Pathogenic 870455 19:46443888-46443889 19:45940630-45940631
3 NOVA2 NM_002516.4(NOVA2):c.701_720dup (p.Ala241fs)duplication Pathogenic 870456 19:46443879-46443880 19:45940621-45940622
4 NOVA2 NM_002516.4(NOVA2):c.709_748del (p.Val237fs)deletion Pathogenic 870457 19:46443852-46443891 19:45940594-45940633
5 NOVA2 NM_002516.4(NOVA2):c.781del (p.Val261fs)deletion Pathogenic 870458 19:46443819-46443819 19:45940561-45940561
6 NOVA2 NM_002516.4(NOVA2):c.720_721insCCGCGGATGTGCTTCCAGCC (p.Ala241fs)insertion Pathogenic 870459 19:46443879-46443880 19:45940621-45940622

Expression for Neurodevelopmental Disorder with or Without Autistic Features...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with or Without Autistic Features and/or Structural Brain Abnormalities.

Pathways for Neurodevelopmental Disorder with or Without Autistic Features...

GO Terms for Neurodevelopmental Disorder with or Without Autistic Features...

Sources for Neurodevelopmental Disorder with or Without Autistic Features...

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
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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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