NEDVIBA
MCID: NRD073
MIFTS: 17

Neurodevelopmental Disorder with Visual Defects and Brain Anomalies (NEDVIBA)

Categories: Eye diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Visual Defects and Brain...

MalaCards integrated aliases for Neurodevelopmental Disorder with Visual Defects and Brain Anomalies:

Name: Neurodevelopmental Disorder with Visual Defects and Brain Anomalies 56 73 6
Nedviba 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
onset in infancy
de novo mutation


Classifications:



External Ids:

OMIM 56 618547
MeSH 43 D008607
MedGen 41 CN262197

Summaries for Neurodevelopmental Disorder with Visual Defects and Brain...

OMIM : 56 Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) is characterized by global developmental delay with impaired intellectual development and speech delay, variable visual defects, including retinitis pigmentosa and optic atrophy, hypotonia or hypertonia, and variable structural brain abnormalities. Other nonspecific features may be found (summary by Okur et al., 2019). (618547)

MalaCards based summary : Neurodevelopmental Disorder with Visual Defects and Brain Anomalies, is also known as nedviba. An important gene associated with Neurodevelopmental Disorder with Visual Defects and Brain Anomalies is HK1 (Hexokinase 1). Affiliated tissues include brain and eye.

UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder with visual defects and brain anomalies: A disorder characterized by global developmental delay, speech delay, intellectual disability, structural brain abnormalities, and visual impairments including retinitis pigmentosa and optic atrophy.

Related Diseases for Neurodevelopmental Disorder with Visual Defects and Brain...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Visual Defects and Brain...

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis

Neurologic Central Nervous System:
ataxia
global developmental delay
cerebellar atrophy
cerebral atrophy
enlarged ventricles
more
Head And Neck Neck:
torticollis (in some patients)

Muscle Soft Tissue:
hypotonia, axial
hypertonia, limb

Head And Neck Eyes:
nystagmus
visual impairment
optic atrophy
strabismus
astigmatism
more
Skeletal Feet:
foot deformities

Abdomen Gastrointestinal:
feeding difficulties (in some patients)

Head And Neck Face:
dysmorphic facial features, variable (in some patients)

Clinical features from OMIM:

618547

Drugs & Therapeutics for Neurodevelopmental Disorder with Visual Defects and Brain...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Visual Defects and Brain Anomalies

Genetic Tests for Neurodevelopmental Disorder with Visual Defects and Brain...

Anatomical Context for Neurodevelopmental Disorder with Visual Defects and Brain...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Visual Defects and Brain Anomalies:

40
Brain, Eye

Publications for Neurodevelopmental Disorder with Visual Defects and Brain...

Articles related to Neurodevelopmental Disorder with Visual Defects and Brain Anomalies:

# Title Authors PMID Year
1
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment. 56 6
30778173 2019

Variations for Neurodevelopmental Disorder with Visual Defects and Brain...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Visual Defects and Brain Anomalies:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HK1 NM_033500.2(HK1):c.1298C>T (p.Ser433Leu)SNV Pathogenic 421007 rs1064794848 10:71142311-71142311 10:69382555-69382555
2 HK1 NM_033500.2(HK1):c.1334C>T (p.Thr445Met)SNV Pathogenic/Likely pathogenic 372693 rs1057517928 10:71142347-71142347 10:69382591-69382591
3 HK1 NM_033500.2(HK1):c.1205G>A (p.Gly402Glu)SNV Likely pathogenic 421464 rs1064795154 10:71139827-71139827 10:69380071-69380071
4 HK1 NM_033500.2(HK1):c.1216A>G (p.Lys406Glu)SNV Likely pathogenic 599646 rs1564557037 10:71139838-71139838 10:69380082-69380082

Expression for Neurodevelopmental Disorder with Visual Defects and Brain...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Visual Defects and Brain Anomalies.

Pathways for Neurodevelopmental Disorder with Visual Defects and Brain...

GO Terms for Neurodevelopmental Disorder with Visual Defects and Brain...

Sources for Neurodevelopmental Disorder with Visual Defects and Brain...

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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