NDHMSD
MCID: NRD034
MIFTS: 29

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 57 72 29 6 17
Mental Retardation, Autosomal Dominant 8 72 13 70
Ndhmsd 57 72
Mental Retardation, Autosomal Dominant 8, Formerly; Mrd8, Formerly 57
Mental Retardation, Autosomal Dominant 8, Formerly 57
Mrd8, Formerly 57
Mrd8 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Neurodevelopmental Disorder with or Without Hyperkinetic...

UniProtKB/Swiss-Prot : 72 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-related neurodevelopmental disorder 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 microcephaly and polymicrogyria

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) (Updated 20-May-2021)

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-related neurodevelopmental disorder 11.7
2 autosomal dominant non-syndromic intellectual disability 8 11.0

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

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

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 microcephaly 31 very rare (1%) HP:0000252
2 polymicrogyria 31 very rare (1%) HP:0002126
3 cerebral visual impairment 31 very rare (1%) HP:0100704
4 seizure 31 very rare (1%) HP:0001250
5 intellectual disability 31 HP:0001249
6 spasticity 31 HP:0001257
7 hyperreflexia 31 HP:0001347
8 eeg abnormality 31 HP:0002353
9 scoliosis 31 HP:0002650
10 constipation 31 HP:0002019
11 chorea 31 HP:0002072
12 self-injurious behavior 31 HP:0100716
13 dyskinesia 31 HP:0100660
14 intellectual disability, severe 31 HP:0010864
15 myoclonus 31 HP:0001336
16 absent speech 31 HP:0001344
17 severe muscular hypotonia 31 HP:0006829
18 hypoplasia of the corpus callosum 31 HP:0002079
19 feeding difficulties 31 HP:0011968
20 cerebral atrophy 31 HP:0002059
21 inability to walk 31 HP:0002540
22 hyperkinetic movements 31 HP:0002487
23 oculogyric crisis 31 HP:0010553

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
chorea
dyskinesia
intellectual disability, severe
more
Abdomen Gastrointestinal:
constipation
poor feeding

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

Muscle Soft Tissue:
hypotonia, severe

Skeletal Spine:
scoliosis

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

Head And Neck Head:
microcephaly (in some patients)

Clinical features from OMIM®:

614254 (Updated 20-May-2021)

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...

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

(show all 11)
# Title Authors PMID Year
1
GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function. 6 57
28228639 2017
2
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 57 6
27164704 2016
3
GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders. 6 57
25864721 2015
4
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. 6 57
21376300 2011
5
Gene mutational analysis in a cohort of Chinese children with unexplained epilepsy: Identification of a new KCND3 phenotype and novel genes causing Dravet syndrome. 6
30776697 2019
6
Electroclinical history of a five-year-old girl with GRIN1-related early-onset epileptic encephalopathy: a video-case study. 6
30355546 2018
7
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. 57
29365063 2018
8
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
9
Clinical application of whole-exome sequencing across clinical indications. 6
26633542 2016
10
Whole exome sequencing in patients with white matter abnormalities. 6
27159321 2016
11
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015

Variations for Neurodevelopmental Disorder with or Without Hyperkinetic...

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

6 (show top 50) (show all 182)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GRIN1 NM_007327.4(GRIN1):c.1984G>A (p.Glu662Lys) SNV Pathogenic 29725 rs387906635 GRCh37: 9:140057162-140057162
GRCh38: 9:137162710-137162710
2 GRIN1 NM_007327.4(GRIN1):c.1679_1681dup (p.Ser560dup) Duplication Pathogenic 29726 rs1554770064 GRCh37: 9:140056668-140056669
GRCh38: 9:137162216-137162217
3 GRIN1 NM_007327.4(GRIN1):c.1854_1859dup (p.Ile619_Gly620dup) Duplication Pathogenic 397504 rs1554770185 GRCh37: 9:140056954-140056955
GRCh38: 9:137162502-137162503
4 GRIN1 NM_007327.4(GRIN1):c.1950C>G (p.Asn650Lys) SNV Pathogenic 487502 rs771610568 GRCh37: 9:140057128-140057128
GRCh38: 9:137162676-137162676
5 GRIN1 NM_007327.4(GRIN1):c.1656C>G (p.Asp552Glu) SNV Pathogenic 487500 rs1554770054 GRCh37: 9:140056647-140056647
GRCh38: 9:137162195-137162195
6 GRIN1 NM_007327.4(GRIN1):c.2449T>C (p.Phe817Leu) SNV Pathogenic 487504 rs1554770624 GRCh37: 9:140058216-140058216
GRCh38: 9:137163764-137163764
7 GRIN1 NM_007327.4(GRIN1):c.1656C>A (p.Asp552Glu) SNV Pathogenic 487501 rs1554770054 GRCh37: 9:140056647-140056647
GRCh38: 9:137162195-137162195
8 GRIN1 NM_007327.4(GRIN1):c.1961T>G (p.Phe654Cys) SNV Pathogenic 559643 rs1554770262 GRCh37: 9:140057139-140057139
GRCh38: 9:137162687-137162687
9 GRIN1 NM_007327.4(GRIN1):c.1933G>T (p.Ala645Ser) SNV Pathogenic 917873 GRCh37: 9:140057111-140057111
GRCh38: 9:137162659-137162659
10 GRIN1 NM_007327.4(GRIN1):c.1923G>A (p.Met641Ile) SNV Pathogenic 403957 rs1060500046 GRCh37: 9:140057101-140057101
GRCh38: 9:137162649-137162649
11 GRIN1 NM_007327.4(GRIN1):c.1853G>T (p.Gly618Val) SNV Pathogenic 987514 GRCh37: 9:140056957-140056957
GRCh38: 9:137162505-137162505
12 GRIN1 NM_007327.4(GRIN1):c.1342del (p.Arg448fs) Deletion Pathogenic 807609 rs1588727276 GRCh37: 9:140055648-140055648
GRCh38: 9:137161196-137161196
13 GRIN1 NM_007327.4(GRIN1):c.1858G>A (p.Gly620Arg) SNV Pathogenic/Likely pathogenic 487508 rs797045047 GRCh37: 9:140056962-140056962
GRCh38: 9:137162510-137162510
14 GRIN1 NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys) SNV Pathogenic/Likely pathogenic 521354 rs1554770667 GRCh37: 9:140058297-140058297
GRCh38: 9:137163845-137163845
15 GRIN1 NM_007327.4(GRIN1):c.679G>C (p.Asp227His) SNV Likely pathogenic 224815 GRCh37: 9:140051128-140051128
GRCh38: 9:137156676-137156676
16 GRIN1 NM_007327.4(GRIN1):c.679G>C (p.Asp227His) SNV Likely pathogenic 224815 GRCh37: 9:140051128-140051128
GRCh38: 9:137156676-137156676
17 GRIN1 NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys) SNV Likely pathogenic 521354 rs1554770667 GRCh37: 9:140058297-140058297
GRCh38: 9:137163845-137163845
18 GRIN1 NM_007327.4(GRIN1):c.1667A>G (p.Gln556Arg) SNV Likely pathogenic 976358 GRCh37: 9:140056658-140056658
GRCh38: 9:137162206-137162206
19 GRIN1 NM_007327.4(GRIN1):c.2381G>A (p.Arg794Gln) SNV Likely pathogenic 435376 rs781053477 GRCh37: 9:140058058-140058058
GRCh38: 9:137163606-137163606
20 GRIN1 NM_007327.4(GRIN1):c.1922T>C (p.Met641Thr) SNV Likely pathogenic 828036 rs1588732344 GRCh37: 9:140057100-140057100
GRCh38: 9:137162648-137162648
21 GRIN1 NM_007327.4(GRIN1):c.2231G>A (p.Cys744Tyr) SNV Likely pathogenic 539840 rs1554770444 GRCh37: 9:140057680-140057680
GRCh38: 9:137163228-137163228
22 GRIN1 NM_007327.4(GRIN1):c.1939T>C (p.Tyr647His) SNV Likely pathogenic 917874 GRCh37: 9:140057117-140057117
GRCh38: 9:137162665-137162665
23 GRIN1 NM_007327.4(GRIN1):c.2452A>C (p.Met818Leu) SNV Likely pathogenic 472576 rs1554770628 GRCh37: 9:140058219-140058219
GRCh38: 9:137163767-137163767
24 GRIN1 NM_007327.4(GRIN1):c.1847A>G (p.Asn616Ser) SNV Likely pathogenic 567084 rs1564363665 GRCh37: 9:140056951-140056951
GRCh38: 9:137162499-137162499
25 GRIN1 NM_007327.4(GRIN1):c.2417C>A (p.Ala806Glu) SNV Likely pathogenic 522682 rs1554770589 GRCh37: 9:140058094-140058094
GRCh38: 9:137163642-137163642
26 GRIN1 NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg) SNV Likely pathogenic 209159 rs797045047 GRCh37: 9:140056962-140056962
GRCh38: 9:137162510-137162510
27 GRIN1 NM_007327.4(GRIN1):c.352G>A (p.Val118Met) SNV Likely pathogenic 807608 rs1588686286 GRCh37: 9:140036558-140036558
GRCh38: 9:137142106-137142106
28 GRIN1 NM_007327.4(GRIN1):c.448G>A (p.Val150Met) SNV Conflicting interpretations of pathogenicity 953936 GRCh37: 9:140040232-140040232
GRCh38: 9:137145780-137145780
29 GRIN1 NM_007327.4(GRIN1):c.2500G>C (p.Glu834Gln) SNV Conflicting interpretations of pathogenicity 691274 rs1588735834 GRCh37: 9:140058267-140058267
GRCh38: 9:137163815-137163815
30 GRIN1 NM_007327.4(GRIN1):c.2589+6G>T SNV Uncertain significance 388106 rs200395927 GRCh37: 9:140058362-140058362
GRCh38: 9:137163910-137163910
31 GRIN1 NM_007327.4(GRIN1):c.387G>A (p.Ser129=) SNV Uncertain significance 508906 rs199799811 GRCh37: 9:140036593-140036593
GRCh38: 9:137142141-137142141
32 GRIN1 NM_007327.4(GRIN1):c.1359G>C (p.Gln453His) SNV Uncertain significance 849166 GRCh37: 9:140055760-140055760
GRCh38: 9:137161308-137161308
33 GRIN1 NM_007327.4(GRIN1):c.2334-10C>A SNV Uncertain significance 949070 GRCh37: 9:140058001-140058001
GRCh38: 9:137163549-137163549
34 GRIN1 NM_007327.4(GRIN1):c.989A>G (p.Tyr330Cys) SNV Uncertain significance 950808 GRCh37: 9:140052851-140052851
GRCh38: 9:137158399-137158399
35 GRIN1 NM_007327.4(GRIN1):c.344G>A (p.Arg115His) SNV Uncertain significance 951511 GRCh37: 9:140036550-140036550
GRCh38: 9:137142098-137142098
36 GRIN1 NM_007327.4(GRIN1):c.2531G>T (p.Arg844Leu) SNV Uncertain significance 598966 rs1564365418 GRCh37: 9:140058298-140058298
GRCh38: 9:137163846-137163846
37 GRIN1 NM_007327.4(GRIN1):c.570G>A (p.Lys190=) SNV Uncertain significance 967814 GRCh37: 9:140040354-140040354
GRCh38: 9:137145902-137145902
38 GRIN1 NM_007327.4(GRIN1):c.505G>A (p.Asp169Asn) SNV Uncertain significance 265555 rs886039622 GRCh37: 9:140040289-140040289
GRCh38: 9:137145837-137145837
39 GRIN1 NM_007327.4(GRIN1):c.1961T>C (p.Phe654Ser) SNV Uncertain significance 1016952 GRCh37: 9:140057139-140057139
GRCh38: 9:137162687-137162687
40 GRIN1 NM_007327.4(GRIN1):c.1076G>A (p.Arg359His) SNV Uncertain significance 513769 rs141704101 GRCh37: 9:140052938-140052938
GRCh38: 9:137158486-137158486
41 GRIN1 NM_007327.4(GRIN1):c.1452C>A (p.Phe484Leu) SNV Uncertain significance 1020777 GRCh37: 9:140055853-140055853
GRCh38: 9:137161401-137161401
42 GRIN1 NM_007327.4(GRIN1):c.1382A>G (p.Asp461Gly) SNV Uncertain significance 521271 rs955781126 GRCh37: 9:140055783-140055783
GRCh38: 9:137161331-137161331
43 GRIN1 NM_007327.4(GRIN1):c.2414C>T (p.Pro805Leu) SNV Uncertain significance 658023 rs1588735247 GRCh37: 9:140058091-140058091
GRCh38: 9:137163639-137163639
44 GRIN1 NM_007327.4(GRIN1):c.2172-5G>A SNV Uncertain significance 660969 rs1588734042 GRCh37: 9:140057616-140057616
GRCh38: 9:137163164-137163164
45 GRIN1 NM_007327.4(GRIN1):c.1255A>G (p.Thr419Ala) SNV Uncertain significance 943488 GRCh37: 9:140055565-140055565
GRCh38: 9:137161113-137161113
46 GRIN1 NM_007327.4(GRIN1):c.2805T>A (p.His935Gln) SNV Uncertain significance 958578 GRCh37: 9:140061967-140061967
GRCh38: 9:137167515-137167515
47 GRIN1 NM_007327.4(GRIN1):c.35T>C (p.Leu12Pro) SNV Uncertain significance 959066 GRCh37: 9:140033973-140033973
GRCh38: 9:137139521-137139521
48 GRIN1 NM_007327.4(GRIN1):c.1979C>T (p.Pro660Leu) SNV Uncertain significance 813929 rs1328780843 GRCh37: 9:140057157-140057157
GRCh38: 9:137162705-137162705
49 GRIN1 NM_007327.4(GRIN1):c.1339+15C>T SNV Uncertain significance 1031213 GRCh37: 9:140055664-140055664
GRCh38: 9:137161212-137161212
50 GRIN1 NM_007327.4(GRIN1):c.794-11T>A SNV Uncertain significance 1031214 GRCh37: 9:140051304-140051304
GRCh38: 9:137156852-137156852

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

72 (show all 12)
# Symbol AA change Variation ID SNP ID
1 GRIN1 p.Glu662Lys VAR_066598 rs387906635
2 GRIN1 p.Asp552Glu VAR_079989 rs155477005
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 rs155477062
11 GRIN1 p.Gly827Arg VAR_080002 rs145123005
12 GRIN1 p.Arg844Cys VAR_080003 rs155477066

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
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
Content
Loading form....