NEDBSS
MCID: NRD092
MIFTS: 19

Neurodevelopmental Disorder with Brain Anomalies, Seizures, and Scoliosis (NEDBSS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Brain Anomalies, Seizures, and...

MalaCards integrated aliases for Neurodevelopmental Disorder with Brain Anomalies, Seizures, and Scoliosis:

Name: Neurodevelopmental Disorder with Brain Anomalies, Seizures, and Scoliosis 56 73
Glycosylphosphatidylinositol Biosynthesis Defect 21 56 73 29 6 17
Gpibd21 56 73
Nedbss 56 73
Glycosylphosphatidylinositol Biosynthesis Defect 21; Gpibd21 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity
seizures may be intractable in some patients and partially controlled in others


Classifications:



External Ids:

OMIM 56 618590
MeSH 43 D008607
MedGen 41 CN262319

Summaries for Neurodevelopmental Disorder with Brain Anomalies, Seizures, and...

OMIM : 56 Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis (NEDBSS) is an autosomal recessive disorder characterized by severely impaired psychomotor development, hypotonia, seizures, and structural brain anomalies, including thin corpus callosum and cerebellar atrophy. Other features include scoliosis, dysmorphic facies, and visual impairment. Affected individuals are usually unable to walk or speak and may require tube feeding in severe cases. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Knaus et al., 2019). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293). (618590)

MalaCards based summary : Neurodevelopmental Disorder with Brain Anomalies, Seizures, and Scoliosis, is also known as glycosylphosphatidylinositol biosynthesis defect 21. An important gene associated with Neurodevelopmental Disorder with Brain Anomalies, Seizures, and Scoliosis is PIGU (Phosphatidylinositol Glycan Anchor Biosynthesis Class U). Affiliated tissues include brain and eye.

UniProtKB/Swiss-Prot : 73 Glycosylphosphatidylinositol biosynthesis defect 21: An autosomal recessive disorder characterized by global developmental delay, severe-to-profound intellectual disability, muscular hypotonia, seizures, brain anomalies, including thin corpus callosum and cerebellar atrophy, scoliosis, and mild facial dysmorphism.

Related Diseases for Neurodevelopmental Disorder with Brain Anomalies, Seizures, and...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Brain Anomalies, Seizures, and...

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
seizures
cerebral atrophy
delayed myelination
myoclonic seizures
more
Skeletal Spine:
scoliosis

Head And Neck Eyes:
strabismus
poor eye contact
epicanthal folds
optic atrophy (1 patient)
cortical visual impairment
more
Head And Neck Head:
poor head control

Muscle Soft Tissue:
hypotonia

Abdomen Gastrointestinal:
tube feeding (in some patients)

Head And Neck Nose:
depressed nasal bridge

Head And Neck Face:
smooth philtrum
long face
malar flattening
high forehead
bitemporal narrowing
more
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Head And Neck Mouth:
thin upper lip
high-arched palate
large mouth

Laboratory Abnormalities:
normal serum alkaline phosphatase

Cardiovascular Heart:
supraventricular tachycardia (1 patient)

Clinical features from OMIM:

618590

Drugs & Therapeutics for Neurodevelopmental Disorder with Brain Anomalies, Seizures, and...

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

Genetic Tests for Neurodevelopmental Disorder with Brain Anomalies, Seizures, and...

Genetic tests related to Neurodevelopmental Disorder with Brain Anomalies, Seizures, and Scoliosis:

# Genetic test Affiliating Genes
1 Glycosylphosphatidylinositol Biosynthesis Defect 21 29

Anatomical Context for Neurodevelopmental Disorder with Brain Anomalies, Seizures, and...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Brain Anomalies, Seizures, and Scoliosis:

40
Brain, Eye

Publications for Neurodevelopmental Disorder with Brain Anomalies, Seizures, and...

Articles related to Neurodevelopmental Disorder with Brain Anomalies, Seizures, and Scoliosis:

# Title Authors PMID Year
1
Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies. 6 56
31353022 2019

Variations for Neurodevelopmental Disorder with Brain Anomalies, Seizures, and...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Brain Anomalies, Seizures, and Scoliosis:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PIGU NM_080476.4(PIGU):c.209T>A (p.Ile70Lys)SNV Pathogenic 689723 20:33233125-33233125 20:34645321-34645321
2 PIGU NM_080476.4(PIGU):c.1149C>A (p.Asn383Lys)SNV Pathogenic 689724 20:33162953-33162953 20:34575149-34575149

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Brain Anomalies, Seizures, and Scoliosis:

73
# Symbol AA change Variation ID SNP ID
1 PIGU p.Ile70Lys VAR_083263
2 PIGU p.Asn383Lys VAR_083264

Expression for Neurodevelopmental Disorder with Brain Anomalies, Seizures, and...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Brain Anomalies, Seizures, and Scoliosis.

Pathways for Neurodevelopmental Disorder with Brain Anomalies, Seizures, and...

GO Terms for Neurodevelopmental Disorder with Brain Anomalies, Seizures, and...

Sources for Neurodevelopmental Disorder with Brain Anomalies, Seizures, and...

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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