NDHMSD
MCID: NRD034
MIFTS: 26

Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant (NDHMSD)

Categories: Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with or Without Hyperkinetic...

MalaCards integrated aliases for Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant:

Name: Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant 58 76 30 6 17
Mental Retardation, Autosomal Dominant 8 76 13 74
Ndhmsd 58 76
Mental Retardation, Autosomal Dominant 8, Formerly; Mrd8, Formerly 58
Mental Retardation, Autosomal Dominant 8, Formerly 58
Mental Retardation, Autosomal Dominant, Type 8 41
Mrd8, Formerly 58
Mrd8 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation
seizure onset ranges from infancy to 11 years
seizures are refractory in some patients, but can be controlled in others
patients are severely disabled


HPO:

33
neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Neurodevelopmental Disorder with or Without Hyperkinetic...

UniProtKB/Swiss-Prot : 76 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant: An autosomal dominant neurodevelopmental disorder characterized by severe mental retardation and developmental delay, absent speech, muscular hypotonia, dyskinesia, and hyperkinetic movements. Cortical blindness, cerebral atrophy, and seizures are present in some patients.

MalaCards based summary : Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant, also known as mental retardation, autosomal dominant 8, is related to grin1-associated disorders and autosomal dominant non-syndromic intellectual disability 8. An important gene associated with Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant is GRIN1 (Glutamate Ionotropic Receptor NMDA Type Subunit 1). Related phenotypes are seizures and polymicrogyria

OMIM : 58 NDHMSD is a severe neurodevelopmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder. Additional features may include cortical blindness, generalized cerebral atrophy, and seizures (summary by Lemke et al., 2016). (614254)

Related Diseases for Neurodevelopmental Disorder with or Without Hyperkinetic...

Diseases in the Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant family:

Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive

Diseases related to Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 grin1-associated disorders 11.8
2 autosomal dominant non-syndromic intellectual disability 8 11.1

Symptoms & Phenotypes for Neurodevelopmental Disorder with or Without Hyperkinetic...

Human phenotypes related to Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant:

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 seizures 33 very rare (1%) HP:0001250
2 polymicrogyria 33 very rare (1%) HP:0002126
3 cerebral visual impairment 33 very rare (1%) HP:0100704
4 intellectual disability 33 HP:0001249
5 spasticity 33 HP:0001257
6 hyperreflexia 33 HP:0001347
7 constipation 33 HP:0002019
8 chorea 33 HP:0002072
9 eeg abnormality 33 HP:0002353
10 self-injurious behavior 33 HP:0100716
11 dyskinesia 33 HP:0100660
12 intellectual disability, severe 33 HP:0010864
13 feeding difficulties 33 HP:0011968
14 myoclonus 33 HP:0001336
15 absent speech 33 HP:0001344
16 inability to walk 33 HP:0002540
17 hypoplasia of the corpus callosum 33 HP:0002079
18 cerebral atrophy 33 HP:0002059
19 oculogyric crisis 33 HP:0010553

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
spasticity
hyperreflexia
chorea
dyskinesia
intellectual disability, severe
more
Skeletal Spine:
scoliosis

Head And Neck Eyes:
oculogyric crisis
poor visual contact
cortical blindness (in some patients)

Muscle Soft Tissue:
hypotonia, severe

Abdomen Gastrointestinal:
constipation
poor feeding

Neurologic Behavioral Psychiatric Manifestations:
self-injurious behavior
autistic features
stereotypic movements

Head And Neck Head:
microcephaly (in some patients)

Clinical features from OMIM:

614254

Drugs & Therapeutics for Neurodevelopmental Disorder with or Without Hyperkinetic...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant

Genetic Tests for Neurodevelopmental Disorder with or Without Hyperkinetic...

Genetic tests related to Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant 30 GRIN1

Anatomical Context for Neurodevelopmental Disorder with or Without Hyperkinetic...

Publications for Neurodevelopmental Disorder with or Without Hyperkinetic...

Articles related to Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant:

# Title Authors Year
1
GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function. ( 28228639 )
2017
2
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. ( 27164704 )
2016
3
GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders. ( 25864721 )
2015
4
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. ( 21376300 )
2011

Variations for Neurodevelopmental Disorder with or Without Hyperkinetic...

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant:

76 (show all 12)
# Symbol AA change Variation ID SNP ID
1 GRIN1 p.Glu662Lys VAR_066598 rs387906635
2 GRIN1 p.Asp552Glu VAR_079989
3 GRIN1 p.Pro557Arg VAR_079991 rs878853143
4 GRIN1 p.Gly618Arg VAR_079992
5 GRIN1 p.Gly620Arg VAR_079993 rs797045047
6 GRIN1 p.Tyr647Ser VAR_079996
7 GRIN1 p.Ser688Tyr VAR_079998
8 GRIN1 p.Gly815Arg VAR_079999 rs797044925
9 GRIN1 p.Gly815Val VAR_080000
10 GRIN1 p.Phe817Leu VAR_080001
11 GRIN1 p.Gly827Arg VAR_080002 rs145123005
12 GRIN1 p.Arg844Cys VAR_080003

ClinVar genetic disease variations for Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant:

6 (show top 50) (show all 148)
# Gene Variation Type Significance SNP ID Assembly Location
1 GRIN1 NM_007327.3(GRIN1): c.1984G> A (p.Glu662Lys) single nucleotide variant Pathogenic rs387906635 GRCh37 Chromosome 9, 140057162: 140057162
2 GRIN1 NM_007327.3(GRIN1): c.1984G> A (p.Glu662Lys) single nucleotide variant Pathogenic rs387906635 GRCh38 Chromosome 9, 137162710: 137162710
3 GRIN1 NM_007327.3(GRIN1): c.1679_1681dup (p.Ser560_Thr561insSer) duplication Pathogenic rs1554770064 GRCh38 Chromosome 9, 137162218: 137162220
4 GRIN1 NM_007327.3(GRIN1): c.1679_1681dup (p.Ser560_Thr561insSer) duplication Pathogenic rs1554770064 GRCh37 Chromosome 9, 140056670: 140056672
5 GRIN1 NM_007327.3(GRIN1): c.2241G> C (p.Val747=) single nucleotide variant Benign rs116354349 GRCh37 Chromosome 9, 140057690: 140057690
6 GRIN1 NM_007327.3(GRIN1): c.2241G> C (p.Val747=) single nucleotide variant Benign rs116354349 GRCh38 Chromosome 9, 137163238: 137163238
7 GRIN1 NM_007327.3(GRIN1): c.2244G> C (p.Thr748=) single nucleotide variant Benign rs79570612 GRCh37 Chromosome 9, 140057693: 140057693
8 GRIN1 NM_007327.3(GRIN1): c.2244G> C (p.Thr748=) single nucleotide variant Benign rs79570612 GRCh38 Chromosome 9, 137163241: 137163241
9 GRIN1 NM_007327.3(GRIN1): c.1858G> C (p.Gly620Arg) single nucleotide variant Pathogenic/Likely pathogenic rs797045047 GRCh37 Chromosome 9, 140056962: 140056962
10 GRIN1 NM_007327.3(GRIN1): c.1858G> C (p.Gly620Arg) single nucleotide variant Pathogenic/Likely pathogenic rs797045047 GRCh38 Chromosome 9, 137162510: 137162510
11 GRIN1 NM_007327.3(GRIN1): c.768G> C (p.Gly256=) single nucleotide variant Conflicting interpretations of pathogenicity rs141473515 GRCh37 Chromosome 9, 140051217: 140051217
12 GRIN1 NM_007327.3(GRIN1): c.768G> C (p.Gly256=) single nucleotide variant Conflicting interpretations of pathogenicity rs141473515 GRCh38 Chromosome 9, 137156765: 137156765
13 GRIN1 NM_007327.3(GRIN1): c.1005T> C (p.Thr335=) single nucleotide variant Conflicting interpretations of pathogenicity rs145176345 GRCh37 Chromosome 9, 140052867: 140052867
14 GRIN1 NM_007327.3(GRIN1): c.1005T> C (p.Thr335=) single nucleotide variant Conflicting interpretations of pathogenicity rs145176345 GRCh38 Chromosome 9, 137158415: 137158415
15 GRIN1 NM_007327.3(GRIN1): c.2499C> T (p.Ile833=) single nucleotide variant Conflicting interpretations of pathogenicity rs146086141 GRCh37 Chromosome 9, 140058266: 140058266
16 GRIN1 NM_007327.3(GRIN1): c.2499C> T (p.Ile833=) single nucleotide variant Conflicting interpretations of pathogenicity rs146086141 GRCh38 Chromosome 9, 137163814: 137163814
17 GRIN1 NM_007327.4(GRIN1): c.679G> C (p.Asp227His) single nucleotide variant Likely pathogenic rs869312865 GRCh37 Chromosome 9, 140051128: 140051128
18 GRIN1 NM_007327.4(GRIN1): c.679G> C (p.Asp227His) single nucleotide variant Likely pathogenic rs869312865 GRCh38 Chromosome 9, 137156676: 137156676
19 GRIN1 NM_007327.3(GRIN1): c.246C> T (p.Leu82=) single nucleotide variant Benign rs192006771 GRCh38 Chromosome 9, 137139732: 137139732
20 GRIN1 NM_007327.3(GRIN1): c.246C> T (p.Leu82=) single nucleotide variant Benign rs192006771 GRCh37 Chromosome 9, 140034184: 140034184
21 GRIN1 NM_007327.3(GRIN1): c.525G> A (p.Ala175=) single nucleotide variant Benign/Likely benign rs77812749 GRCh37 Chromosome 9, 140040309: 140040309
22 GRIN1 NM_007327.3(GRIN1): c.525G> A (p.Ala175=) single nucleotide variant Benign/Likely benign rs77812749 GRCh38 Chromosome 9, 137145857: 137145857
23 GRIN1 NM_007327.3(GRIN1): c.2333+9C> A single nucleotide variant Conflicting interpretations of pathogenicity rs201316377 GRCh38 Chromosome 9, 137163339: 137163339
24 GRIN1 NM_007327.3(GRIN1): c.2333+9C> A single nucleotide variant Conflicting interpretations of pathogenicity rs201316377 GRCh37 Chromosome 9, 140057791: 140057791
25 GRIN1 NM_007327.3(GRIN1): c.780C> T (p.Arg260=) single nucleotide variant Conflicting interpretations of pathogenicity rs3181450 GRCh37 Chromosome 9, 140051229: 140051229
26 GRIN1 NM_007327.3(GRIN1): c.780C> T (p.Arg260=) single nucleotide variant Conflicting interpretations of pathogenicity rs3181450 GRCh38 Chromosome 9, 137156777: 137156777
27 GRIN1 NM_007327.3(GRIN1): c.570+10G> A single nucleotide variant Benign/Likely benign rs200924771 GRCh37 Chromosome 9, 140040364: 140040364
28 GRIN1 NM_007327.3(GRIN1): c.570+10G> A single nucleotide variant Benign/Likely benign rs200924771 GRCh38 Chromosome 9, 137145912: 137145912
29 GRIN1 NM_007327.3(GRIN1): c.693A> C (p.Val231=) single nucleotide variant Benign/Likely benign rs201818201 GRCh37 Chromosome 9, 140051142: 140051142
30 GRIN1 NM_007327.3(GRIN1): c.693A> C (p.Val231=) single nucleotide variant Benign/Likely benign rs201818201 GRCh38 Chromosome 9, 137156690: 137156690
31 GRIN1 NM_007327.3(GRIN1): c.696C> T (p.Tyr232=) single nucleotide variant Likely benign rs200390848 GRCh37 Chromosome 9, 140051145: 140051145
32 GRIN1 NM_007327.3(GRIN1): c.696C> T (p.Tyr232=) single nucleotide variant Likely benign rs200390848 GRCh38 Chromosome 9, 137156693: 137156693
33 GRIN1 NM_007327.3(GRIN1): c.1513C> T (p.Leu505=) single nucleotide variant Benign/Likely benign rs139637382 GRCh37 Chromosome 9, 140056421: 140056421
34 GRIN1 NM_007327.3(GRIN1): c.1513C> T (p.Leu505=) single nucleotide variant Benign/Likely benign rs139637382 GRCh38 Chromosome 9, 137161969: 137161969
35 GRIN1 NM_007327.3(GRIN1): c.1548G> A (p.Pro516=) single nucleotide variant Benign rs75783429 GRCh37 Chromosome 9, 140056456: 140056456
36 GRIN1 NM_007327.3(GRIN1): c.1548G> A (p.Pro516=) single nucleotide variant Benign rs75783429 GRCh38 Chromosome 9, 137162004: 137162004
37 GRIN1 NM_007327.3(GRIN1): c.1584G> A (p.Glu528=) single nucleotide variant Benign/Likely benign rs116006955 GRCh37 Chromosome 9, 140056492: 140056492
38 GRIN1 NM_007327.3(GRIN1): c.1584G> A (p.Glu528=) single nucleotide variant Benign/Likely benign rs116006955 GRCh38 Chromosome 9, 137162040: 137162040
39 GRIN1 NM_007327.3(GRIN1): c.2412C> G (p.Ala804=) single nucleotide variant Likely benign rs149053552 GRCh37 Chromosome 9, 140058089: 140058089
40 GRIN1 NM_007327.3(GRIN1): c.2412C> G (p.Ala804=) single nucleotide variant Likely benign rs149053552 GRCh38 Chromosome 9, 137163637: 137163637
41 GRIN1 NM_007327.3(GRIN1): c.1044C> T (p.Phe348=) single nucleotide variant Benign/Likely benign rs143483243 GRCh37 Chromosome 9, 140052906: 140052906
42 GRIN1 NM_007327.3(GRIN1): c.1044C> T (p.Phe348=) single nucleotide variant Benign/Likely benign rs143483243 GRCh38 Chromosome 9, 137158454: 137158454
43 GRIN1 NM_007327.3(GRIN1): c.2799C> T (p.Ser933=) single nucleotide variant Likely benign rs201012245 GRCh37 Chromosome 9, 140061961: 140061961
44 GRIN1 NM_007327.3(GRIN1): c.2799C> T (p.Ser933=) single nucleotide variant Likely benign rs201012245 GRCh38 Chromosome 9, 137167509: 137167509
45 GRIN1 NM_007327.3(GRIN1): c.1854_1859dup (p.Gly620_Glu621insIleGly) duplication Pathogenic rs1554770185 GRCh37 Chromosome 9, 140056958: 140056963
46 GRIN1 NM_007327.3(GRIN1): c.1854_1859dup (p.Gly620_Glu621insIleGly) duplication Pathogenic rs1554770185 GRCh38 Chromosome 9, 137162506: 137162511
47 GRIN1 NM_007327.3(GRIN1): c.1340C> A (p.Pro447His) single nucleotide variant Uncertain significance rs587780348 GRCh37 Chromosome 9, 140055741: 140055741
48 GRIN1 NM_007327.3(GRIN1): c.1340C> A (p.Pro447His) single nucleotide variant Uncertain significance rs587780348 GRCh38 Chromosome 9, 137161289: 137161289
49 GRIN1 NM_007327.3(GRIN1): c.2442C> T (p.Ala814=) single nucleotide variant Uncertain significance rs773708731 GRCh38 Chromosome 9, 137163667: 137163667
50 GRIN1 NM_007327.3(GRIN1): c.2442C> T (p.Ala814=) single nucleotide variant Uncertain significance rs773708731 GRCh37 Chromosome 9, 140058119: 140058119

Expression for Neurodevelopmental Disorder with or Without Hyperkinetic...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Dominant.

Pathways for Neurodevelopmental Disorder with or Without Hyperkinetic...

GO Terms for Neurodevelopmental Disorder with or Without Hyperkinetic...

Sources for Neurodevelopmental Disorder with or Without Hyperkinetic...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....