NEDSDV
MCID: NRD057
MIFTS: 31

Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects (NEDSDV)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neurodevelopmental Disorder with Spastic Diplegia and Visual...

MalaCards integrated aliases for Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects:

Name: Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects 57 72
Mental Retardation, Autosomal Dominant 19 72 29 13 6 70
Nedsdv 57 72
Mental Retardation, Autosomal Dominant 19, Formerly; Mrd19, Formerly 57
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome 58
Mental Retardation, Autosomal Dominant 19, Formerly 57
Mrd19, Formerly 57
Ctnnb1 Syndrome 58
Mrd19 72

Characteristics:

Orphanet epidemiological data:

58
severe intellectual disability-progressive spastic diplegia syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy


HPO:

31
neurodevelopmental disorder with spastic diplegia and visual defects:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 615075
OMIM Phenotypic Series 57 PS156200
MeSH 44 D008607
ICD10 via Orphanet 33 G80.1
Orphanet 58 ORPHA404473
UMLS 70 C3554449

Summaries for Neurodevelopmental Disorder with Spastic Diplegia and Visual...

OMIM® : 57 Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV) is characterized by global developmental delay, impaired intellectual development, axial hypotonia, and dysmorphic craniofacial features with microcephaly. Many patients have visual abnormalities, ranging from strabismus to optic nerve atrophy and retinal abnormalities. Affected individuals also develop spasticity, particularly of the lower limbs, and may have behavioral abnormalities (summary by Kuechler et al., 2015 and Kharbanda et al., 2017). (615075) (Updated 20-May-2021)

MalaCards based summary : Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects, also known as mental retardation, autosomal dominant 19, is related to severe intellectual disability-progressive spastic diplegia syndrome and autosomal dominant non-syndromic intellectual disability 19. An important gene associated with Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects is CTNNB1 (Catenin Beta 1). Affiliated tissues include eye, and related phenotypes are hypermetropia and optic atrophy

UniProtKB/Swiss-Prot : 72 Neurodevelopmental disorder with spastic diplegia and visual defects: An autosomal dominant disorder characterized by global developmental delay, severe intellectual disability with absent or very limited speech, microcephaly, spasticity, and visual abnormalities.

Related Diseases for Neurodevelopmental Disorder with Spastic Diplegia and Visual...

Diseases related to Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 severe intellectual disability-progressive spastic diplegia syndrome 11.8
2 autosomal dominant non-syndromic intellectual disability 19 11.0
3 microcephaly 9.9
4 spastic diplegia 9.9
5 spasticity 9.9

Graphical network of the top 20 diseases related to Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects:



Diseases related to Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects

Symptoms & Phenotypes for Neurodevelopmental Disorder with Spastic Diplegia and Visual...

Human phenotypes related to Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypermetropia 58 31 very rare (1%) Occasional (29-5%) HP:0000540
2 optic atrophy 31 very rare (1%) HP:0000648
3 generalized hypopigmentation 31 very rare (1%) HP:0007513
4 exudative vitreoretinopathy 31 very rare (1%) HP:0030490
5 intellectual disability 58 31 Very frequent (99-80%) HP:0001249
6 microcephaly 58 31 Very frequent (99-80%) HP:0000252
7 strabismus 58 31 Occasional (29-5%) HP:0000486
8 thin upper lip vermilion 58 31 Occasional (29-5%) HP:0000219
9 long philtrum 58 31 Occasional (29-5%) HP:0000343
10 hypoplasia of the corpus callosum 58 31 Occasional (29-5%) HP:0002079
11 seizures 58 Very rare (<4-1%)
12 spasticity 58 Very frequent (99-80%)
13 neurological speech impairment 31 HP:0002167
14 sleep disturbance 58 Occasional (29-5%)
15 high palate 31 HP:0000218
16 developmental regression 58 Frequent (79-30%)
17 self-injurious behavior 58 Occasional (29-5%)
18 hearing impairment 58 Very rare (<4-1%)
19 global developmental delay 31 HP:0001263
20 behavioral abnormality 58 Frequent (79-30%)
21 abnormal facial shape 58 Very frequent (99-80%)
22 smooth philtrum 58 Occasional (29-5%)
23 myopia 58 Occasional (29-5%)
24 motor delay 58 Very frequent (99-80%)
25 abnormality of the eye 58 Frequent (79-30%)
26 ventriculomegaly 58 Occasional (29-5%)
27 tethered cord 58 Occasional (29-5%)
28 underdeveloped nasal alae 58 Occasional (29-5%)
29 autistic behavior 58 Occasional (29-5%)
30 spastic diplegia 31 HP:0001264
31 syringomyelia 58 Occasional (29-5%)
32 abnormal temper tantrums 58 Occasional (29-5%)
33 aggressive behavior 58 Occasional (29-5%)
34 broad nasal tip 58 Occasional (29-5%)
35 generalized hypotonia 31 HP:0001290
36 muscular hypotonia of the trunk 58 Very frequent (99-80%)
37 poor speech 58 Very frequent (99-80%)
38 delayed cns myelination 58 Occasional (29-5%)
39 low hanging columella 58 Occasional (29-5%)
40 congenital microcephaly 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
intellectual disability
hypoplastic corpus callosum
delayed psychomotor development
speech impairment
spastic diplegia, progressive

Head And Neck Face:
long philtrum

Neurologic Behavioral Psychiatric Manifestations:
autistic features

Head And Neck Nose:
small alae nasi
full nasal tip

Skin Nails Hair Skin:
fair skin (in some patients)

Head And Neck Eyes:
strabismus
hypermetropia (in some patients)
exudative vitreoretinopathy (in some patients)
visual defects
optic nerve atrophy (in some patients)

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

Head And Neck Head:
microcephaly (in some patients)

Muscle Soft Tissue:
hypotonia, axial

Skin Nails Hair Hair:
fine fair hair (in some patients)
unusual hair patterning (in some patients)

Clinical features from OMIM®:

615075 (Updated 20-May-2021)

Drugs & Therapeutics for Neurodevelopmental Disorder with Spastic Diplegia and Visual...

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Neurodevelopmental Data Capture of Patients Diagnosed With CTNNB1 Syndrome With Genotype/Phenotype Gorrelation Recruiting NCT04812119

Search NIH Clinical Center for Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects

Genetic Tests for Neurodevelopmental Disorder with Spastic Diplegia and Visual...

Genetic tests related to Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 19 29 CTNNB1

Anatomical Context for Neurodevelopmental Disorder with Spastic Diplegia and Visual...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects:

40
Eye

Publications for Neurodevelopmental Disorder with Spastic Diplegia and Visual...

Articles related to Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects:

(show all 12)
# Title Authors PMID Year
1
Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. 6 57
28575650 2017
2
Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay: Case report and literature review. 57 6
28514307 2017
3
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 6 57
27915094 2017
4
A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. 6 57
24668549 2014
5
Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features. 57 6
24614104 2014
6
Diagnostic exome sequencing in persons with severe intellectual disability. 57 6
23033978 2012
7
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. 57
25326669 2015
8
[Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass]. 6
2614104 1989
9
Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype. 61
33350591 2021
10
Generation of a human induced pluripotent stem cell line (SBWCHi001-A) from a patient with NEDSDV carrying a pathogenic mutation in CTNNB1 gene. 61
33264726 2020
11
A de novo CTNNB1 Novel Splice Variant in an Adult Female with Severe Intellectual Disability. 61
33116939 2020
12
Case Report: A de novo CTNNB1 Nonsense Mutation Associated With Neurodevelopmental Disorder, Retinal Detachment, Polydactyly. 61
33425807 2020

Variations for Neurodevelopmental Disorder with Spastic Diplegia and Visual...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects:

6 (show all 37)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CTNNB1 NM_001904.4(CTNNB1):c.1268_1271TTCT[1] (p.Ser425fs) Microsatellite Pathogenic 39654 rs398122907 GRCh37: 3:41275102-41275105
GRCh38: 3:41233611-41233614
2 CTNNB1 NM_001904.4(CTNNB1):c.925C>T (p.Gln309Ter) SNV Pathogenic 39656 rs376393123 GRCh37: 3:41267341-41267341
GRCh38: 3:41225850-41225850
3 CTNNB1 NM_001904.4(CTNNB1):c.705dup (p.Gly236fs) Duplication Pathogenic 133315 rs587777412 GRCh37: 3:41267033-41267034
GRCh38: 3:41225542-41225543
4 CTNNB1 NM_001904.4(CTNNB1):c.1672C>T (p.Gln558Ter) SNV Pathogenic 430707 rs1131692181 GRCh37: 3:41275777-41275777
GRCh38: 3:41234286-41234286
5 CTNNB1 NM_001904.4(CTNNB1):c.427_470dup (p.Leu159_Leu160insMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys) Duplication Pathogenic 434868 rs1553630304 GRCh37: 3:41266629-41266630
GRCh38: 3:41225138-41225139
6 CTNNB1 NM_001904.4(CTNNB1):c.865_867delinsCC (p.Thr289fs) Indel Pathogenic 559642 rs1553630507 GRCh37: 3:41267281-41267283
GRCh38: 3:41225790-41225792
7 CTNNB1 NM_001904.4(CTNNB1):c.1297A>T (p.Lys433Ter) SNV Pathogenic 560707 rs1559474364 GRCh37: 3:41275131-41275131
GRCh38: 3:41233640-41233640
8 CTNNB1 NM_001904.4(CTNNB1):c.495+1G>C SNV Pathogenic 560987 rs1559468403 GRCh37: 3:41266699-41266699
GRCh38: 3:41225208-41225208
9 CTNNB1 NM_001904.4(CTNNB1):c.811del (p.Met271fs) Deletion Pathogenic 976203 GRCh37: 3:41267224-41267224
GRCh38: 3:41225733-41225733
10 CTNNB1 NM_001904.4(CTNNB1):c.306del (p.Thr102_Leu103insTer) Deletion Pathogenic 979186 GRCh37: 3:41266509-41266509
GRCh38: 3:41225018-41225018
11 CTNNB1 NM_001904.4(CTNNB1):c.468dup (p.Thr157fs) Duplication Pathogenic 807587 rs1575316657 GRCh37: 3:41266670-41266671
GRCh38: 3:41225179-41225180
12 CTNNB1 NM_001904.4(CTNNB1):c.1900G>T (p.Glu634Ter) SNV Pathogenic 807588 rs1575334103 GRCh37: 3:41277936-41277936
GRCh38: 3:41236445-41236445
13 CTNNB1 NM_001904.4(CTNNB1):c.337C>T (p.Gln113Ter) SNV Pathogenic 451713 rs1553630279 GRCh37: 3:41266540-41266540
GRCh38: 3:41225049-41225049
14 CTNNB1 NM_001904.4(CTNNB1):c.1923_1924AG[1] (p.Glu642fs) Microsatellite Pathogenic 503703 rs1553632361 GRCh37: 3:41277959-41277960
GRCh38: 3:41236468-41236469
15 CTNNB1 NM_001904.4(CTNNB1):c.211dup (p.Ser71fs) Duplication Pathogenic 817214 rs1575315766 GRCh37: 3:41266210-41266211
GRCh38: 3:41224719-41224720
16 CTNNB1 NM_001904.4(CTNNB1):c.198G>A (p.Trp66Ter) SNV Pathogenic 280325 rs886041553 GRCh37: 3:41266201-41266201
GRCh38: 3:41224710-41224710
17 CTNNB1 NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter) SNV Pathogenic 39655 rs397514554 GRCh37: 3:41275648-41275648
GRCh38: 3:41234157-41234157
18 CTNNB1 NM_001904.4(CTNNB1):c.998dup (p.Tyr333Ter) Duplication Pathogenic 279956 rs886041281 GRCh37: 3:41268759-41268760
GRCh38: 3:41227268-41227269
19 CTNNB1 NM_001904.4(CTNNB1):c.268C>T (p.Arg90Ter) SNV Pathogenic 253000 rs1369821061 GRCh37: 3:41266471-41266471
GRCh38: 3:41224980-41224980
20 CTNNB1 NM_001904.4(CTNNB1):c.1434_1435insC (p.Glu479fs) Insertion Pathogenic 225170 rs1057519379 GRCh37: 3:41275268-41275269
GRCh38: 3:41233777-41233778
21 CTNNB1 NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter) SNV Pathogenic 265443 rs775104326 GRCh37: 3:41266486-41266486
GRCh38: 3:41224995-41224995
22 CTNNB1 NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter) SNV Pathogenic 559636 rs1553631860 GRCh37: 3:41275254-41275254
GRCh38: 3:41233763-41233763
23 CTNNB1 NM_001904.4(CTNNB1):c.807del (p.Met271fs) Deletion Pathogenic 930112 GRCh37: 3:41267223-41267223
GRCh38: 3:41225732-41225732
24 CTNNB1 NM_001904.4(CTNNB1):c.1014G>A (p.Trp338Ter) SNV Pathogenic 915357 GRCh37: 3:41268776-41268776
GRCh38: 3:41227285-41227285
25 CTNNB1 NM_001904.4(CTNNB1):c.1588C>T (p.Gln530Ter) SNV Pathogenic 598768 rs1559474966 GRCh37: 3:41275693-41275693
GRCh38: 3:41234202-41234202
26 CTNNB1 NM_001904.4(CTNNB1):c.1603C>T (p.Arg535Ter) SNV Pathogenic 265085 rs886039332 GRCh37: 3:41275708-41275708
GRCh38: 3:41234217-41234217
27 CTNNB1 NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter) SNV Pathogenic 265443 rs775104326 GRCh37: 3:41266486-41266486
GRCh38: 3:41224995-41224995
28 CTNNB1 NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter) SNV Pathogenic/Likely pathogenic 429824 rs748294403 GRCh37: 3:41278105-41278105
GRCh38: 3:41236614-41236614
29 CTNNB1 NM_001904.4(CTNNB1):c.2076G>C (p.Glu692Asp) SNV Likely pathogenic 562195 rs1559477241 GRCh37: 3:41278200-41278200
GRCh38: 3:41236709-41236709
30 CTNNB1 NM_001904.4(CTNNB1):c.1271T>G (p.Leu424Arg) SNV Likely pathogenic 216915 rs863224864 GRCh37: 3:41275105-41275105
GRCh38: 3:41233614-41233614
31 CTNNB1 NM_001904.4(CTNNB1):c.2273del (p.His758fs) Deletion Likely pathogenic 666287 rs1575339920 GRCh37: 3:41280760-41280760
GRCh38: 3:41239269-41239269
32 CTNNB1 NM_001904.4(CTNNB1):c.1016_1025delinsT (p.Thr339_Arg342delinsIle) Indel Likely pathogenic 598752 rs1559470315 GRCh37: 3:41268778-41268787
GRCh38: 3:41227287-41227296
33 CTNNB1 NM_001904.4(CTNNB1):c.1759C>T (p.Arg587Ter) SNV Likely pathogenic 423482 rs1064796453 GRCh37: 3:41277290-41277290
GRCh38: 3:41235799-41235799
34 CTNNB1 NM_001904.4(CTNNB1):c.2099T>C (p.Ile700Thr) SNV Uncertain significance 1029547 GRCh37: 3:41279529-41279529
GRCh38: 3:41238038-41238038
35 CTNNB1 NM_001904.4(CTNNB1):c.1163T>C (p.Leu388Pro) SNV Uncertain significance 560986 rs1559474140 GRCh37: 3:41274913-41274913
GRCh38: 3:41233422-41233422
36 CTNNB1 NM_001904.4(CTNNB1):c.43G>A (p.Glu15Lys) SNV Uncertain significance 635460 rs1575315288 GRCh37: 3:41266046-41266046
GRCh38: 3:41224555-41224555
37 CTNNB1 NM_001904.4(CTNNB1):c.917A>T (p.Tyr306Phe) SNV Uncertain significance 981167 GRCh37: 3:41267333-41267333
GRCh38: 3:41225842-41225842

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

72
# Symbol AA change Variation ID SNP ID
1 CTNNB1 p.Leu388Pro VAR_072282

Expression for Neurodevelopmental Disorder with Spastic Diplegia and Visual...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects.

Pathways for Neurodevelopmental Disorder with Spastic Diplegia and Visual...

GO Terms for Neurodevelopmental Disorder with Spastic Diplegia and Visual...

Sources for Neurodevelopmental Disorder with Spastic Diplegia and Visual...

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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