NEDBASS
MCID: NRD099
MIFTS: 18

Neurodevelopmental Disorder and Structural Brain Anomalies with or Without Seizures and Spasticity (NEDBASS)

Categories: Eye diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder and Structural Brain Anomalies with...

MalaCards integrated aliases for Neurodevelopmental Disorder and Structural Brain Anomalies with or Without Seizures and Spasticity:

Name: Neurodevelopmental Disorder and Structural Brain Anomalies with or Without Seizures and Spasticity 56 6
Nedbass 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset at birth or early infancy
death in childhood (in some patients)
seizures are often refractory to treatment


Classifications:



External Ids:

OMIM 56 618890

Summaries for Neurodevelopmental Disorder and Structural Brain Anomalies with...

OMIM : 56 Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity (NEDBASS) is an autosomal recessive neurologic disorder characterized by global developmental delay apparent from early infancy, poor overall growth often with microcephaly, impaired intellectual development with delayed or absent speech, axial hypotonia, and peripheral spasticity. Additional common but variable features include early-onset seizures, optic atrophy with poor visual fixation, and dysmorphic facial features. Brain imaging shows cerebral atrophy, poor or absent myelination with loss of white matter volume, and often hypoplasia of the corpus callosum and/or cerebellum. Early death may occur (summary by Bend et al., 2020). (618890)

MalaCards based summary : Neurodevelopmental Disorder and Structural Brain Anomalies with or Without Seizures and Spasticity, is also known as nedbass. An important gene associated with Neurodevelopmental Disorder and Structural Brain Anomalies with or Without Seizures and Spasticity is PTPN23 (Protein Tyrosine Phosphatase Non-Receptor Type 23). Affiliated tissues include brain, cerebellum and eye.

Related Diseases for Neurodevelopmental Disorder and Structural Brain Anomalies with...

Symptoms & Phenotypes for Neurodevelopmental Disorder and Structural Brain Anomalies with...

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
spasticity
tremor
cerebellar hypoplasia
encephalopathy
more
Head And Neck Head:
microcephaly
brachycephaly

Head And Neck Eyes:
optic atrophy
strabismus
synophrys
poor vision
abnormal eyebrows
more
Abdomen Gastrointestinal:
feeding difficulties
tube feeding (in some patients)

Head And Neck Mouth:
high-arched palate
thin lips
broad mouth
full lips

Skeletal:
contractures

Skeletal Spine:
scoliosis

Head And Neck Face:
smooth philtrum
prominent forehead
micrognathia
long face
long philtrum
more
Growth Other:
failure to thrive
intrauterine growth retardation
poor overall growth

Head And Neck Ears:
low-set ears
prominent ears

Head And Neck Nose:
prominent nasal root

Clinical features from OMIM:

618890

Drugs & Therapeutics for Neurodevelopmental Disorder and Structural Brain Anomalies with...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder and Structural Brain Anomalies with or Without Seizures and Spasticity

Genetic Tests for Neurodevelopmental Disorder and Structural Brain Anomalies with...

Anatomical Context for Neurodevelopmental Disorder and Structural Brain Anomalies with...

MalaCards organs/tissues related to Neurodevelopmental Disorder and Structural Brain Anomalies with or Without Seizures and Spasticity:

40
Brain, Cerebellum, Eye

Publications for Neurodevelopmental Disorder and Structural Brain Anomalies with...

Articles related to Neurodevelopmental Disorder and Structural Brain Anomalies with or Without Seizures and Spasticity:

# Title Authors PMID Year
1
Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities. 56 6
31395947 2020
2
Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs. 56 6
29899372 2018
3
Mutations of PTPN23 in developmental and epileptic encephalopathy. 6 56
29090338 2017
4
Clinical exome sequencing: results from 2819 samples reflecting 1000 families. 56 6
27848944 2017
5
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 56 6
25558065 2015

Variations for Neurodevelopmental Disorder and Structural Brain Anomalies with...

ClinVar genetic disease variations for Neurodevelopmental Disorder and Structural Brain Anomalies with or Without Seizures and Spasticity:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PTPN23 NM_015466.4(PTPN23):c.904A>G (p.Met302Val)SNV Pathogenic 915882 3:47448838-47448838 3:47407348-47407348
2 PTPN23 NM_015466.4(PTPN23):c.3586C>T (p.Arg1196Ter)SNV Pathogenic 915883 3:47452874-47452874 3:47411384-47411384
3 PTPN23 NM_015466.4(PTPN23):c.1595C>T (p.Pro532Leu)SNV Pathogenic 915884 3:47450530-47450530 3:47409040-47409040
4 PTPN23 NM_015466.4(PTPN23):c.2974del (p.Leu992fs)deletion Pathogenic 915885 3:47452261-47452261 3:47410771-47410771
5 PTPN23 NM_015466.4(PTPN23):c.1902C>G (p.Asn634Lys)SNV Pathogenic 915886 3:47451011-47451011 3:47409521-47409521
6 PTPN23 NM_015466.4(PTPN23):c.3995G>T (p.Arg1332Leu)SNV Pathogenic/Likely pathogenic 183326 rs730882229 3:47453379-47453379 3:47411889-47411889
7 PTPN23 NM_015466.4(PTPN23):c.2568_2594del (p.Val857_Pro865del)deletion Pathogenic/Likely pathogenic 636319 3:47451846-47451872 3:47410356-47410382
8 PTPN23 NM_015466.4(PTPN23):c.3886_3888del (p.Lys1296del)deletion Pathogenic/Likely pathogenic 636320 3:47453172-47453174 3:47411682-47411684
9 PTPN23 NM_015466.4(PTPN23):c.4651_4652dup (p.Leu1552fs)duplication Pathogenic/Likely pathogenic 636321 3:47454412-47454413 3:47412922-47412923

Expression for Neurodevelopmental Disorder and Structural Brain Anomalies with...

Search GEO for disease gene expression data for Neurodevelopmental Disorder and Structural Brain Anomalies with or Without Seizures and Spasticity.

Pathways for Neurodevelopmental Disorder and Structural Brain Anomalies with...

GO Terms for Neurodevelopmental Disorder and Structural Brain Anomalies with...

Sources for Neurodevelopmental Disorder and Structural Brain Anomalies with...

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
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
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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