NEDSEBA
MCID: NRD110
MIFTS: 16

Neurodevelopmental Disorder with Seizures and Brain Atrophy (NEDSEBA)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Seizures and Brain Atrophy

MalaCards integrated aliases for Neurodevelopmental Disorder with Seizures and Brain Atrophy:

Name: Neurodevelopmental Disorder with Seizures and Brain Atrophy 57 6
Nedseba 57

Characteristics:

HPO:

31
neurodevelopmental disorder with seizures and brain atrophy:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Neurodevelopmental Disorder with Seizures and Brain Atrophy

OMIM® : 57 Neurodevelopmental disorder with seizures and brain atrophy (NEDSEBA) is an autosomal recessive disorder with highly variable manifestations and severity of these core features. The most severely affected individuals develop symptoms in utero, which may lead to spontaneous abortion or planned termination. Those that survive may present with severe seizures at birth, have poor overall growth with small head circumference, achieve no developmental progress, and show significant brain atrophy and other brain abnormalities. Patients at the mildest end of the phenotypic spectrum have onset of seizures later in childhood and show developmental delay with mildly impaired intellectual development and minimal brain atrophy (summary by Coulter et al., 2020). (619072) (Updated 05-Mar-2021)

MalaCards based summary : Neurodevelopmental Disorder with Seizures and Brain Atrophy, is also known as nedseba. An important gene associated with Neurodevelopmental Disorder with Seizures and Brain Atrophy is EXOC7 (Exocyst Complex Component 7). Affiliated tissues include brain, and related phenotypes are high palate and global developmental delay

Related Diseases for Neurodevelopmental Disorder with Seizures and Brain Atrophy

Symptoms & Phenotypes for Neurodevelopmental Disorder with Seizures and Brain Atrophy

Human phenotypes related to Neurodevelopmental Disorder with Seizures and Brain Atrophy:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 high palate 31 very rare (1%) HP:0000218
2 global developmental delay 31 very rare (1%) HP:0001263
3 microcephaly 31 very rare (1%) HP:0000252
4 retrognathia 31 very rare (1%) HP:0000278
5 low-set ears 31 very rare (1%) HP:0000369
6 long philtrum 31 very rare (1%) HP:0000343
7 cerebellar hypoplasia 31 very rare (1%) HP:0001321
8 rocker bottom foot 31 very rare (1%) HP:0001838
9 cerebral cortical atrophy 31 HP:0002120
10 arthrogryposis multiplex congenita 31 HP:0002804
11 hypoplasia of the corpus callosum 31 HP:0002079
12 focal-onset seizure 31 HP:0007359
13 hypoplasia of the brainstem 31 HP:0002365
14 decreased thalamic volume 31 HP:0012695
15 simplified gyral pattern 31 HP:0009879
16 myoclonic seizure 31 HP:0032794

Clinical features from OMIM®:

619072 (Updated 05-Mar-2021)

Drugs & Therapeutics for Neurodevelopmental Disorder with Seizures and Brain Atrophy

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Seizures and Brain Atrophy

Genetic Tests for Neurodevelopmental Disorder with Seizures and Brain Atrophy

Anatomical Context for Neurodevelopmental Disorder with Seizures and Brain Atrophy

MalaCards organs/tissues related to Neurodevelopmental Disorder with Seizures and Brain Atrophy:

40
Brain

Publications for Neurodevelopmental Disorder with Seizures and Brain Atrophy

Articles related to Neurodevelopmental Disorder with Seizures and Brain Atrophy:

# Title Authors PMID Year
1
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival. 6 57
32103185 2020

Variations for Neurodevelopmental Disorder with Seizures and Brain Atrophy

ClinVar genetic disease variations for Neurodevelopmental Disorder with Seizures and Brain Atrophy:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EXOC7 NM_001013839.4(EXOC7):c.809-2A>G SNV Pathogenic 983545 17:74087318-74087318 17:76091237-76091237
2 EXOC7 NM_001013839.4(EXOC7):c.1059_1073del (p.Asp353_Leu357del) Deletion Pathogenic 983546 17:74084979-74084993 17:76088898-76088912
3 EXOC7 NM_001013839.4(EXOC7):c.138ATC[1] (p.Ser48del) Microsatellite Pathogenic 983547 17:74097928-74097930 17:76101847-76101849
4 EXOC7 NM_001013839.4(EXOC7):c.1567G>A (p.Ala523Thr) SNV Pathogenic 983548 17:74081807-74081807 17:76085726-76085726

Expression for Neurodevelopmental Disorder with Seizures and Brain Atrophy

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Seizures and Brain Atrophy.

Pathways for Neurodevelopmental Disorder with Seizures and Brain Atrophy

GO Terms for Neurodevelopmental Disorder with Seizures and Brain Atrophy

Sources for Neurodevelopmental Disorder with Seizures and Brain Atrophy

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....