NEDSOSB
MCID: NRD082
MIFTS: 13

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 56 6
Nedsosb 56

Characteristics:

OMIM:

56
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)


Classifications:



External Ids:

OMIM 56 618651

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

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.

More information from OMIM: 618651

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

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

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
hyperreflexia
inability to walk
colpocephaly
absent corpus callosum
more
Head And Neck Ears:
hearing impairment

Head And Neck Head:
microcephaly

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

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 Face:
micrognathia
triangular face
pointed face

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

Abdomen Gastrointestinal:
gastroesophageal reflux

Skeletal:
contractures

Head And Neck Mouth:
high-arched palate thick lips

Respiratory:
recurrent aspiration

Skeletal Feet:
clubfoot (patient a)

Clinical features from OMIM:

618651

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

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

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

# Title Authors PMID Year
1
SEC31A mutation affects ER homeostasis, causing a neurological syndrome. 6 56
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 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SEC31A NM_001077207.4(SEC31A):c.2776_2777dup (p.Ala927fs)duplication Pathogenic 694295 4:83763483-83763484 4:82842330-82842331

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
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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