NEDVIBA
MCID: NRD073
MIFTS: 21

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 57 73 6 39
Nedviba 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
onset in infancy
de novo mutation


HPO:

31
neurodevelopmental disorder with visual defects and brain anomalies:
Inheritance autosomal dominant inheritance


Classifications:



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

OMIM® : 57 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) (Updated 05-Mar-2021)

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 related phenotypes are intellectual disability and frontal bossing

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...

Human phenotypes related to Neurodevelopmental Disorder with Visual Defects and Brain Anomalies:

31 (show all 38)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 frontal bossing 31 very rare (1%) HP:0002007
3 scoliosis 31 very rare (1%) HP:0002650
4 nystagmus 31 very rare (1%) HP:0000639
5 ataxia 31 very rare (1%) HP:0001251
6 hearing impairment 31 very rare (1%) HP:0000365
7 global developmental delay 31 very rare (1%) HP:0001263
8 widely spaced teeth 31 very rare (1%) HP:0000687
9 delayed speech and language development 31 very rare (1%) HP:0000750
10 pes planus 31 very rare (1%) HP:0001763
11 anteverted nares 31 very rare (1%) HP:0000463
12 optic atrophy 31 very rare (1%) HP:0000648
13 short stature 31 very rare (1%) HP:0004322
14 strabismus 31 very rare (1%) HP:0000486
15 epicanthus 31 very rare (1%) HP:0000286
16 thin upper lip vermilion 31 very rare (1%) HP:0000219
17 ventriculomegaly 31 very rare (1%) HP:0002119
18 hip dislocation 31 very rare (1%) HP:0002827
19 flat occiput 31 very rare (1%) HP:0005469
20 bulbous nose 31 very rare (1%) HP:0000414
21 infantile spasms 31 very rare (1%) HP:0012469
22 rod-cone dystrophy 31 very rare (1%) HP:0000510
23 preauricular pit 31 very rare (1%) HP:0004467
24 astigmatism 31 very rare (1%) HP:0000483
25 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
26 feeding difficulties 31 very rare (1%) HP:0011968
27 torticollis 31 very rare (1%) HP:0000473
28 cerebellar atrophy 31 very rare (1%) HP:0001272
29 respiratory tract infection 31 very rare (1%) HP:0011947
30 muscular hypotonia of the trunk 31 very rare (1%) HP:0008936
31 periventricular leukomalacia 31 very rare (1%) HP:0006970
32 cerebral visual impairment 31 very rare (1%) HP:0100704
33 laryngotracheomalacia 31 very rare (1%) HP:0008755
34 limb hypertonia 31 very rare (1%) HP:0002509
35 bulbar palsy 31 very rare (1%) HP:0001283
36 delayed ability to sit 31 very rare (1%) HP:0025336
37 delayed ability to walk 31 very rare (1%) HP:0031936
38 unilateral facial palsy 31 very rare (1%) HP:0012799

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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

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. 57 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_000188.3(HK1):c.1241G>A (p.Gly414Glu) SNV Pathogenic 421464 rs1064795154 10:71139827-71139827 10:69380071-69380071
2 HK1 NM_000188.3(HK1):c.1252A>G (p.Lys418Glu) SNV Pathogenic 599646 rs1564557037 10:71139838-71139838 10:69380082-69380082
3 HK1 NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) SNV Pathogenic 421007 rs1064794848 10:71142311-71142311 10:69382555-69382555
4 HK1 NM_000188.3(HK1):c.1370C>T (p.Thr457Met) SNV Pathogenic 372693 rs1057517928 10:71142347-71142347 10:69382591-69382591
5 HK1 NM_000188.3(HK1):c.1393G>A (p.Glu465Lys) SNV Likely pathogenic 915369 10:71142370-71142370 10:69382614-69382614

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Visual Defects and Brain Anomalies:

73
# Symbol AA change Variation ID SNP ID
1 HK1 p.Gly414Glu VAR_083222 rs106479515
2 HK1 p.Lys418Glu VAR_083223 rs156455703
3 HK1 p.Ser445Leu VAR_083224 rs106479484
4 HK1 p.Thr457Met VAR_083225 rs105751792

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
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
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