MRD19
MCID: NRD057
MIFTS: 26

Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects (MRD19)

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 58
Mental Retardation, Autosomal Dominant 19 76 30 13 6
Mental Retardation, Autosomal Dominant 19, Formerly; Mrd19, Formerly 58
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome 60
Mental Retardation, Autosomal Dominant 19, Formerly 58
Mental Retardation, Autosomal Dominant, Type 19 41
Mrd19, Formerly 58
Nedsdv 58
Mrd19 76

Characteristics:

Orphanet epidemiological data:

60
severe intellectual disability-progressive spastic diplegia syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy


HPO:

33
neurodevelopmental disorder with spastic diplegia and visual defects:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



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

OMIM : 58 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)

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 skin and eye, and related phenotypes are hypermetropia and exudative vitreoretinopathy

UniProtKB/Swiss-Prot : 76 Mental retardation, autosomal dominant 19: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD19 features include severe intellectual disability with absent or very limited speech, microcephaly, and spasticity which severely impaired the ability to walk.

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:

(showing 2, show less)
# Related Disease Score Top Affiliating Genes
1 severe intellectual disability-progressive spastic diplegia syndrome 12.6
2 autosomal dominant non-syndromic intellectual disability 19 11.1

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

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

33 (showing 12, show less)
# Description HPO Frequency HPO Source Accession
1 hypermetropia 33 very rare (1%) HP:0000540
2 exudative vitreoretinopathy 33 very rare (1%) HP:0030490
3 intellectual disability 33 HP:0001249
4 neurological speech impairment 33 HP:0002167
5 global developmental delay 33 HP:0001263
6 microcephaly 33 HP:0000252
7 long philtrum 33 HP:0000343
8 strabismus 33 HP:0000486
9 thin upper lip vermilion 33 HP:0000219
10 generalized hypotonia 33 HP:0001290
11 hypoplasia of the corpus callosum 33 HP:0002079
12 spastic diplegia 33 HP:0001264

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
intellectual disability
hypoplastic corpus callosum
delayed psychomotor development
speech impairment
spastic diplegia, progressive

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

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 Face:
long philtrum

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

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

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

Search Clinical Trials , 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 30 CTNNB1

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

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

42
Skin, Eye

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

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

(showing 5, show less)
# Title Authors Year
1
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. ( 28514307 )
2017
2
Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. ( 28575650 )
2017
3
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. ( 27915094 )
2017
4
Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features. ( 24614104 )
2014
5
Diagnostic exome sequencing in persons with severe intellectual disability. ( 23033978 )
2012

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

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

76 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 CTNNB1 p.Leu388Pro VAR_072282

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

6 (showing 40, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 CTNNB1 NM_001904.3(CTNNB1): c.1543C> T (p.Arg515Ter) single nucleotide variant Pathogenic rs397514554 GRCh37 Chromosome 3, 41275648: 41275648
2 CTNNB1 NM_001904.3(CTNNB1): c.1543C> T (p.Arg515Ter) single nucleotide variant Pathogenic rs397514554 GRCh38 Chromosome 3, 41234157: 41234157
3 CTNNB1 NM_001904.3(CTNNB1): c.925C> T (p.Gln309Ter) single nucleotide variant Pathogenic rs376393123 GRCh37 Chromosome 3, 41267341: 41267341
4 CTNNB1 NM_001904.3(CTNNB1): c.1272_1275delTTCT (p.Ser425Thrfs) deletion Pathogenic rs398122907 GRCh37 Chromosome 3, 41275106: 41275109
5 CTNNB1 NM_001904.3(CTNNB1): c.1272_1275delTTCT (p.Ser425Thrfs) deletion Pathogenic rs398122907 GRCh38 Chromosome 3, 41233615: 41233618
6 CTNNB1 NM_001904.3(CTNNB1): c.925C> T (p.Gln309Ter) single nucleotide variant Pathogenic rs376393123 GRCh38 Chromosome 3, 41225850: 41225850
7 CTNNB1 NM_001904.3(CTNNB1): c.705dup (p.Gly236Argfs) duplication Pathogenic rs587777412 GRCh37 Chromosome 3, 41267034: 41267034
8 CTNNB1 NM_001904.3(CTNNB1): c.705dup (p.Gly236Argfs) duplication Pathogenic rs587777412 GRCh38 Chromosome 3, 41225543: 41225543
9 CTNNB1 NM_001904.3(CTNNB1): c.1271T> G (p.Leu424Arg) single nucleotide variant Likely pathogenic rs863224864 GRCh37 Chromosome 3, 41275105: 41275105
10 CTNNB1 NM_001904.3(CTNNB1): c.1271T> G (p.Leu424Arg) single nucleotide variant Likely pathogenic rs863224864 GRCh38 Chromosome 3, 41233614: 41233614
11 CTNNB1 NM_001904.3(CTNNB1): c.1434_1435insC (p.Glu479Argfs) insertion Pathogenic rs1057519379 GRCh38 Chromosome 3, 41233777: 41233778
12 CTNNB1 NM_001904.3(CTNNB1): c.1434_1435insC (p.Glu479Argfs) insertion Pathogenic rs1057519379 GRCh37 Chromosome 3, 41275268: 41275269
13 CTNNB1 NM_001904.3(CTNNB1): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs1369821061 GRCh37 Chromosome 3, 41266471: 41266471
14 CTNNB1 NM_001904.3(CTNNB1): c.268C> T (p.Arg90Ter) single nucleotide variant Pathogenic rs1369821061 GRCh38 Chromosome 3, 41224980: 41224980
15 CTNNB1 NM_001904.3(CTNNB1): c.283C> T (p.Arg95Ter) single nucleotide variant Pathogenic rs775104326 GRCh37 Chromosome 3, 41266486: 41266486
16 CTNNB1 NM_001904.3(CTNNB1): c.283C> T (p.Arg95Ter) single nucleotide variant Pathogenic rs775104326 GRCh38 Chromosome 3, 41224995: 41224995
17 CTNNB1 NM_001904.3(CTNNB1): c.1603C> T (p.Arg535Ter) single nucleotide variant Pathogenic rs886039332 GRCh37 Chromosome 3, 41275708: 41275708
18 CTNNB1 NM_001904.3(CTNNB1): c.1603C> T (p.Arg535Ter) single nucleotide variant Pathogenic rs886039332 GRCh38 Chromosome 3, 41234217: 41234217
19 CTNNB1 NM_001904.3(CTNNB1): c.1672C> T (p.Gln558Ter) single nucleotide variant Pathogenic rs1131692181 GRCh37 Chromosome 3, 41275777: 41275777
20 CTNNB1 NM_001904.3(CTNNB1): c.1672C> T (p.Gln558Ter) single nucleotide variant Pathogenic rs1131692181 GRCh38 Chromosome 3, 41234286: 41234286
21 CTNNB1 NM_001904.3(CTNNB1): c.427_470dup (p.Leu159Metfs) duplication Pathogenic rs1553630304 GRCh38 Chromosome 3, 41225139: 41225182
22 CTNNB1 NM_001904.3(CTNNB1): c.427_470dup (p.Leu159Metfs) duplication Pathogenic rs1553630304 GRCh37 Chromosome 3, 41266630: 41266673
23 CTNNB1 NM_001904.3(CTNNB1): c.337C> T (p.Gln113Ter) single nucleotide variant Pathogenic rs1553630279 GRCh37 Chromosome 3, 41266540: 41266540
24 CTNNB1 NM_001904.3(CTNNB1): c.337C> T (p.Gln113Ter) single nucleotide variant Pathogenic rs1553630279 GRCh38 Chromosome 3, 41225049: 41225049
25 CTNNB1 NM_001904.3(CTNNB1): c.865_867delACAinsCC (p.Thr289Profs) indel Pathogenic rs1553630507 GRCh38 Chromosome 3, 41225790: 41225792
26 CTNNB1 NM_001904.3(CTNNB1): c.865_867delACAinsCC (p.Thr289Profs) indel Pathogenic rs1553630507 GRCh37 Chromosome 3, 41267281: 41267283
27 CTNNB1 NM_001904.3(CTNNB1): c.1420C> T (p.Arg474Ter) single nucleotide variant Pathogenic rs1553631860 GRCh38 Chromosome 3, 41233763: 41233763
28 CTNNB1 NM_001904.3(CTNNB1): c.1420C> T (p.Arg474Ter) single nucleotide variant Pathogenic rs1553631860 GRCh37 Chromosome 3, 41275254: 41275254
29 CTNNB1 NM_001904.3(CTNNB1): c.1297A> T (p.Lys433Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 41233640: 41233640
30 CTNNB1 NM_001904.3(CTNNB1): c.1297A> T (p.Lys433Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 41275131: 41275131
31 CTNNB1 NM_001904.3(CTNNB1): c.495+1G> C single nucleotide variant Pathogenic GRCh37 Chromosome 3, 41266699: 41266699
32 CTNNB1 NM_001904.3(CTNNB1): c.495+1G> C single nucleotide variant Pathogenic GRCh38 Chromosome 3, 41225208: 41225208
33 CTNNB1 NM_001904.3(CTNNB1): c.1163T> C (p.Leu388Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 41274913: 41274913
34 CTNNB1 NM_001904.3(CTNNB1): c.1163T> C (p.Leu388Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 41233422: 41233422
35 CTNNB1 NM_001904.3(CTNNB1): c.2076G> C (p.Glu692Asp) single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 41278200: 41278200
36 CTNNB1 NM_001904.3(CTNNB1): c.2076G> C (p.Glu692Asp) single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 41236709: 41236709
37 CTNNB1 NM_001904.4(CTNNB1): c.1016_1025delCCACAAGCAGinsT (p.Thr339_Arg342delinsIle) indel Likely pathogenic GRCh37 Chromosome 3, 41268778: 41268787
38 CTNNB1 NM_001904.4(CTNNB1): c.1016_1025delCCACAAGCAGinsT (p.Thr339_Arg342delinsIle) indel Likely pathogenic GRCh38 Chromosome 3, 41227287: 41227296
39 CTNNB1 NM_001904.4(CTNNB1): c.1588C> T (p.Gln530Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 41275693: 41275693
40 CTNNB1 NM_001904.4(CTNNB1): c.1588C> T (p.Gln530Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 41234202: 41234202

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...

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