MCID: NRD034
MIFTS: 20

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

Categories: Genetic diseases, Neuronal diseases, Mental 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 57 75 29 6
Mental Retardation, Autosomal Dominant 8 75 13 73
Ndhmsd 57 75
Mental Retardation, Autosomal Dominant 8, Formerly; Mrd8, Formerly 57
Mental Retardation, Autosomal Dominant 8, Formerly 57
Mental Retardation, Autosomal Dominant, Type 8 40
Mrd8, Formerly 57
Mrd8 75

Characteristics:

OMIM:

57
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:

32
neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614254
MedGen 42 C3280282
MeSH 44 D008607
UMLS 73 C3280282

Summaries for Neurodevelopmental Disorder with or Without Hyperkinetic...

UniProtKB/Swiss-Prot : 75 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 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 phenotype is intellectual disability.

OMIM : 57 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 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 autosomal dominant non-syndromic intellectual disability 8 10.9

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249

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 29 GRIN1

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

Publications for Neurodevelopmental Disorder with or Without Hyperkinetic...

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:

75 (show all 12)
# Symbol AA change Variation ID SNP ID
1 GRIN1 p.Glu662Lys VAR_066598 rs387906635
2 GRIN1 p.Arg217Trp VAR_079984
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
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 118)
# 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 GRCh38 Chromosome 9, 137162218: 137162220
4 GRIN1 NM_007327.3(GRIN1): c.1679_1681dup (p.Ser560_Thr561insSer) duplication Pathogenic GRCh37 Chromosome 9, 140056670: 140056672
5 GRIN1 NM_007327.3(GRIN1): c.1858G> C (p.Gly620Arg) single nucleotide variant Pathogenic/Likely pathogenic rs797045047 GRCh37 Chromosome 9, 140056962: 140056962
6 GRIN1 NM_007327.3(GRIN1): c.1858G> C (p.Gly620Arg) single nucleotide variant Pathogenic/Likely pathogenic rs797045047 GRCh38 Chromosome 9, 137162510: 137162510
7 GRIN1 NM_007327.3(GRIN1): c.768G> C (p.Gly256=) single nucleotide variant Conflicting interpretations of pathogenicity rs141473515 GRCh37 Chromosome 9, 140051217: 140051217
8 GRIN1 NM_007327.3(GRIN1): c.768G> C (p.Gly256=) single nucleotide variant Conflicting interpretations of pathogenicity rs141473515 GRCh38 Chromosome 9, 137156765: 137156765
9 GRIN1 NM_007327.3(GRIN1): c.1005T> C (p.Thr335=) single nucleotide variant Conflicting interpretations of pathogenicity rs145176345 GRCh37 Chromosome 9, 140052867: 140052867
10 GRIN1 NM_007327.3(GRIN1): c.1005T> C (p.Thr335=) single nucleotide variant Conflicting interpretations of pathogenicity rs145176345 GRCh38 Chromosome 9, 137158415: 137158415
11 GRIN1 NM_007327.3(GRIN1): c.2499C> T (p.Ile833=) single nucleotide variant Conflicting interpretations of pathogenicity rs146086141 GRCh37 Chromosome 9, 140058266: 140058266
12 GRIN1 NM_007327.3(GRIN1): c.2499C> T (p.Ile833=) single nucleotide variant Conflicting interpretations of pathogenicity rs146086141 GRCh38 Chromosome 9, 137163814: 137163814
13 GRIN1 NM_007327.3(GRIN1): c.679G> C (p.Asp227His) single nucleotide variant Likely pathogenic rs869312865 GRCh37 Chromosome 9, 140051128: 140051128
14 GRIN1 NM_007327.3(GRIN1): c.679G> C (p.Asp227His) single nucleotide variant Likely pathogenic rs869312865 GRCh38 Chromosome 9, 137156676: 137156676
15 GRIN1 NM_007327.3(GRIN1): c.246C> T (p.Leu82=) single nucleotide variant Benign rs192006771 GRCh38 Chromosome 9, 137139732: 137139732
16 GRIN1 NM_007327.3(GRIN1): c.246C> T (p.Leu82=) single nucleotide variant Benign rs192006771 GRCh37 Chromosome 9, 140034184: 140034184
17 GRIN1 NM_007327.3(GRIN1): c.525G> A (p.Ala175=) single nucleotide variant Benign rs77812749 GRCh37 Chromosome 9, 140040309: 140040309
18 GRIN1 NM_007327.3(GRIN1): c.525G> A (p.Ala175=) single nucleotide variant Benign rs77812749 GRCh38 Chromosome 9, 137145857: 137145857
19 GRIN1 NM_007327.3(GRIN1): c.2333+9C> A single nucleotide variant Conflicting interpretations of pathogenicity rs201316377 GRCh38 Chromosome 9, 137163339: 137163339
20 GRIN1 NM_007327.3(GRIN1): c.2333+9C> A single nucleotide variant Conflicting interpretations of pathogenicity rs201316377 GRCh37 Chromosome 9, 140057791: 140057791
21 GRIN1 NM_007327.3(GRIN1): c.780C> T (p.Arg260=) single nucleotide variant Likely benign rs3181450 GRCh37 Chromosome 9, 140051229: 140051229
22 GRIN1 NM_007327.3(GRIN1): c.780C> T (p.Arg260=) single nucleotide variant Likely benign rs3181450 GRCh38 Chromosome 9, 137156777: 137156777
23 GRIN1 NM_007327.3(GRIN1): c.570+10G> A single nucleotide variant Benign/Likely benign rs200924771 GRCh37 Chromosome 9, 140040364: 140040364
24 GRIN1 NM_007327.3(GRIN1): c.570+10G> A single nucleotide variant Benign/Likely benign rs200924771 GRCh38 Chromosome 9, 137145912: 137145912
25 GRIN1 NM_007327.3(GRIN1): c.693A> C (p.Val231=) single nucleotide variant Benign/Likely benign rs201818201 GRCh37 Chromosome 9, 140051142: 140051142
26 GRIN1 NM_007327.3(GRIN1): c.693A> C (p.Val231=) single nucleotide variant Benign/Likely benign rs201818201 GRCh38 Chromosome 9, 137156690: 137156690
27 GRIN1 NM_007327.3(GRIN1): c.696C> T (p.Tyr232=) single nucleotide variant Likely benign rs200390848 GRCh37 Chromosome 9, 140051145: 140051145
28 GRIN1 NM_007327.3(GRIN1): c.696C> T (p.Tyr232=) single nucleotide variant Likely benign rs200390848 GRCh38 Chromosome 9, 137156693: 137156693
29 GRIN1 NM_007327.3(GRIN1): c.1513C> T (p.Leu505=) single nucleotide variant Benign/Likely benign rs139637382 GRCh37 Chromosome 9, 140056421: 140056421
30 GRIN1 NM_007327.3(GRIN1): c.1513C> T (p.Leu505=) single nucleotide variant Benign/Likely benign rs139637382 GRCh38 Chromosome 9, 137161969: 137161969
31 GRIN1 NM_007327.3(GRIN1): c.1548G> A (p.Pro516=) single nucleotide variant Benign rs75783429 GRCh37 Chromosome 9, 140056456: 140056456
32 GRIN1 NM_007327.3(GRIN1): c.1548G> A (p.Pro516=) single nucleotide variant Benign rs75783429 GRCh38 Chromosome 9, 137162004: 137162004
33 GRIN1 NM_007327.3(GRIN1): c.1584G> A (p.Glu528=) single nucleotide variant Benign/Likely benign rs116006955 GRCh37 Chromosome 9, 140056492: 140056492
34 GRIN1 NM_007327.3(GRIN1): c.1584G> A (p.Glu528=) single nucleotide variant Benign/Likely benign rs116006955 GRCh38 Chromosome 9, 137162040: 137162040
35 GRIN1 NM_007327.3(GRIN1): c.2412C> G (p.Ala804=) single nucleotide variant Likely benign rs149053552 GRCh37 Chromosome 9, 140058089: 140058089
36 GRIN1 NM_007327.3(GRIN1): c.2412C> G (p.Ala804=) single nucleotide variant Likely benign rs149053552 GRCh38 Chromosome 9, 137163637: 137163637
37 GRIN1 NM_007327.3(GRIN1): c.1044C> T (p.Phe348=) single nucleotide variant Benign rs143483243 GRCh37 Chromosome 9, 140052906: 140052906
38 GRIN1 NM_007327.3(GRIN1): c.1044C> T (p.Phe348=) single nucleotide variant Benign rs143483243 GRCh38 Chromosome 9, 137158454: 137158454
39 GRIN1 NM_007327.3(GRIN1): c.2799C> T (p.Ser933=) single nucleotide variant Likely benign rs201012245 GRCh37 Chromosome 9, 140061961: 140061961
40 GRIN1 NM_007327.3(GRIN1): c.2799C> T (p.Ser933=) single nucleotide variant Likely benign rs201012245 GRCh38 Chromosome 9, 137167509: 137167509
41 GRIN1 NM_007327.3(GRIN1): c.1854_1859dupCATCGG (p.Gly620_Glu621insIleGly) duplication Pathogenic GRCh37 Chromosome 9, 140056958: 140056963
42 GRIN1 NM_007327.3(GRIN1): c.1854_1859dupCATCGG (p.Gly620_Glu621insIleGly) duplication Pathogenic GRCh38 Chromosome 9, 137162506: 137162511
43 GRIN1 NM_007327.3(GRIN1): c.1340C> A (p.Pro447His) single nucleotide variant Uncertain significance rs587780348 GRCh37 Chromosome 9, 140055741: 140055741
44 GRIN1 NM_007327.3(GRIN1): c.1340C> A (p.Pro447His) single nucleotide variant Uncertain significance rs587780348 GRCh38 Chromosome 9, 137161289: 137161289
45 GRIN1 NM_007327.3(GRIN1): c.2442C> T (p.Ala814=) single nucleotide variant Uncertain significance rs773708731 GRCh38 Chromosome 9, 137163667: 137163667
46 GRIN1 NM_007327.3(GRIN1): c.2442C> T (p.Ala814=) single nucleotide variant Uncertain significance rs773708731 GRCh37 Chromosome 9, 140058119: 140058119
47 GRIN1 NM_007327.3(GRIN1): c.2595A> G (p.Arg865=) single nucleotide variant Likely benign rs770728444 GRCh38 Chromosome 9, 137165191: 137165191
48 GRIN1 NM_007327.3(GRIN1): c.2595A> G (p.Arg865=) single nucleotide variant Likely benign rs770728444 GRCh37 Chromosome 9, 140059643: 140059643
49 GRIN1 NM_007327.3(GRIN1): c.2700+8G> T single nucleotide variant Uncertain significance rs201887636 GRCh38 Chromosome 9, 137165304: 137165304
50 GRIN1 NM_007327.3(GRIN1): c.2700+8G> T single nucleotide variant Uncertain significance rs201887636 GRCh37 Chromosome 9, 140059756: 140059756

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...

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