NEDSOSB
MCID: NRD082
MIFTS: 20

Neurodevelopmental Disorder with Spastic Quadriplegia, Optic Atrophy, Seizures, and Structural Brain Anomalies (NEDSOSB)

Categories: Eye diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Spastic Quadriplegia, Optic...

MalaCards integrated aliases for Neurodevelopmental Disorder with Spastic Quadriplegia, Optic Atrophy, Seizures, and Structural Brain Anomalies:

Name: Neurodevelopmental Disorder with Spastic Quadriplegia, Optic Atrophy, Seizures, and Structural Brain Anomalies 57 72 6 17
Nedsosb 57 72

Characteristics:

OMIM®:

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

Miscellaneous:
onset in utero
death in early childhood
two sibs from a consanguineous bedouin family have been reported (last curated november 2019)


HPO:

31
neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies:
Inheritance autosomal recessive inheritance
Onset and clinical course death in childhood


Classifications:



Summaries for Neurodevelopmental Disorder with Spastic Quadriplegia, Optic...

UniProtKB/Swiss-Prot : 72 Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies: An autosomal recessive, congenital neurodevelopmental disorder characterized by intrauterine growth retardation, microcephaly, marked developmental delay, spastic quadriplegia with profound contractures, pseudobulbar palsy with recurrent aspirations, epilepsy, dysmorphism, neurosensory deafness, optic nerve atrophy with no eye fixation, and death in early childhood. Brain imaging shows semilobar holoprosencephaly and agenesis of corpus callosum.

MalaCards based summary : Neurodevelopmental Disorder with Spastic Quadriplegia, Optic Atrophy, Seizures, and Structural Brain Anomalies, is also known as nedsosb. An important gene associated with Neurodevelopmental Disorder with Spastic Quadriplegia, Optic Atrophy, Seizures, and Structural Brain Anomalies is SEC31A (SEC31 Homolog A, COPII Coat Complex Component). Affiliated tissues include brain and eye, and related phenotypes are agenesis of corpus callosum and hyperreflexia

More information from OMIM: 618651

Related Diseases for Neurodevelopmental Disorder with Spastic Quadriplegia, Optic...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Spastic Quadriplegia, Optic...

Human phenotypes related to Neurodevelopmental Disorder with Spastic Quadriplegia, Optic Atrophy, Seizures, and Structural Brain Anomalies:

31 (showing 29, show less)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 31 very rare (1%) HP:0001274
2 hyperreflexia 31 very rare (1%) HP:0001347
3 failure to thrive 31 very rare (1%) HP:0001508
4 high palate 31 very rare (1%) HP:0000218
5 hearing impairment 31 very rare (1%) HP:0000365
6 inguinal hernia 31 very rare (1%) HP:0000023
7 umbilical hernia 31 very rare (1%) HP:0001537
8 thick vermilion border 31 very rare (1%) HP:0012471
9 optic atrophy 31 very rare (1%) HP:0000648
10 flexion contracture 31 very rare (1%) HP:0001371
11 gastroesophageal reflux 31 very rare (1%) HP:0002020
12 spastic tetraplegia 31 very rare (1%) HP:0002510
13 intrauterine growth retardation 31 very rare (1%) HP:0001511
14 micrognathia 31 very rare (1%) HP:0000347
15 talipes equinovarus 31 very rare (1%) HP:0001762
16 ventriculomegaly 31 very rare (1%) HP:0002119
17 hip dislocation 31 very rare (1%) HP:0002827
18 congenital diaphragmatic hernia 31 very rare (1%) HP:0000776
19 triangular face 31 very rare (1%) HP:0000325
20 long eyelashes 31 very rare (1%) HP:0000527
21 colpocephaly 31 very rare (1%) HP:0030048
22 focal-onset seizure 31 very rare (1%) HP:0007359
23 generalized-onset seizure 31 very rare (1%) HP:0002197
24 inability to walk 31 very rare (1%) HP:0002540
25 developmental cataract 31 very rare (1%) HP:0000519
26 aspiration 31 very rare (1%) HP:0002835
27 pseudobulbar paralysis 31 very rare (1%) HP:0007024
28 perimembranous ventricular septal defect 31 very rare (1%) HP:0011682
29 semilobar holoprosencephaly 31 very rare (1%) HP:0002507

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
seizures
hyperreflexia
colpocephaly
inability to walk
absent corpus callosum
more
Head And Neck Ears:
hearing impairment

Head And Neck Eyes:
visual impairment
optic atrophy
long eyelashes
cataracts, congenital
lack of fixation

Abdomen Gastrointestinal:
gastroesophageal reflux

Skeletal Pelvis:
hip dislocation

Chest Diaphragm:
diaphragmatic hernia (patient a)

Cardiovascular Heart:
perimembranous ventricular septal defect (patient a)

Skeletal Skull:
skull deformities

Growth Other:
failure to thrive
intrauterine growth retardation

Head And Neck Head:
microcephaly

Muscle Soft Tissue:
hypertonia
umbilical hernia (patient a)
inguinal hernia (patient a)

Head And Neck Face:
micrognathia
triangular face
pointed face

Skeletal:
contractures

Head And Neck Mouth:
high-arched palate thick lips

Respiratory:
recurrent aspiration

Skeletal Feet:
clubfoot (patient a)

Clinical features from OMIM®:

618651 (Updated 05-Apr-2021)

Drugs & Therapeutics for Neurodevelopmental Disorder with Spastic Quadriplegia, Optic...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Spastic Quadriplegia, Optic Atrophy, Seizures, and Structural Brain Anomalies

Genetic Tests for Neurodevelopmental Disorder with Spastic Quadriplegia, Optic...

Anatomical Context for Neurodevelopmental Disorder with Spastic Quadriplegia, Optic...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Spastic Quadriplegia, Optic Atrophy, Seizures, and Structural Brain Anomalies:

40
Brain, Eye

Publications for Neurodevelopmental Disorder with Spastic Quadriplegia, Optic...

Articles related to Neurodevelopmental Disorder with Spastic Quadriplegia, Optic Atrophy, Seizures, and Structural Brain Anomalies:

(showing 1, show less)
# Title Authors PMID Year
1
SEC31A mutation affects ER homeostasis, causing a neurological syndrome. 6 57
30464055 2019

Variations for Neurodevelopmental Disorder with Spastic Quadriplegia, Optic...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Spastic Quadriplegia, Optic Atrophy, Seizures, and Structural Brain Anomalies:

6 (showing 2, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SEC31A NM_001077207.4(SEC31A):c.2776_2777dup (p.Ala927fs) Duplication Pathogenic 694295 rs1578188501 GRCh37: 4:83763483-83763484
GRCh38: 4:82842330-82842331
2 SEC31A NM_001077207.4(SEC31A):c.1374C>G (p.Cys458Trp) SNV Uncertain significance 1028501 GRCh37: 4:83785575-83785575
GRCh38: 4:82864422-82864422

Expression for Neurodevelopmental Disorder with Spastic Quadriplegia, Optic...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Spastic Quadriplegia, Optic Atrophy, Seizures, and Structural Brain Anomalies.

Pathways for Neurodevelopmental Disorder with Spastic Quadriplegia, Optic...

GO Terms for Neurodevelopmental Disorder with Spastic Quadriplegia, Optic...

Sources for Neurodevelopmental Disorder with Spastic Quadriplegia, Optic...

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
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