NDHMSR
MCID: NRD041
MIFTS: 21

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

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 Recessive:

Name: Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive 58 76 30 6
Ndhmsr 58 76
Neurodevelopmental Disorder with Hyperkinetic Movements Without Seizures, Autosomal Recessive 6

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset in early infancy
one family (family a) had lethal early infantile epileptic encephalopathy associated with a homozygous truncating mutation
three unrelated consanguineous families have been reported (last curated december 2017)


HPO:

33
neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Neurodevelopmental Disorder with or Without Hyperkinetic...

OMIM : 58 NDHMSR is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development, severe intellectual disability, and involuntary movements, including stereotypic movements, spasticity, and dystonia. Affected individuals are are usually unable to walk independently and have poor or absent speech. Some patients have intractable seizures (summary by Lemke et al., 2016). (617820)

MalaCards based summary : Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive, also known as ndhmsr, is related to grin1-associated disorders. An important gene associated with Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive is GRIN1 (Glutamate Ionotropic Receptor NMDA Type Subunit 1). Affiliated tissues include eye, and related phenotypes are cerebral cortical atrophy and hypoplasia of the corpus callosum

UniProtKB/Swiss-Prot : 76 Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive: An autosomal recessive neurodevelopmental disorder characterized by severe mental retardation and psychomotor developmental delay, involuntary and stereotypic movements, spasticity, and inability to walk without support. Intractable seizures manifest in some patients.

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 Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 grin1-associated disorders 11.8

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

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

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 cerebral cortical atrophy 33 very rare (1%) HP:0002120
2 hypoplasia of the corpus callosum 33 very rare (1%) HP:0002079
3 seizures 33 HP:0001250
4 spasticity 33 HP:0001257
5 self-injurious behavior 33 HP:0100716
6 global developmental delay 33 HP:0001263
7 intellectual disability, severe 33 HP:0010864
8 strabismus 33 HP:0000486
9 absent speech 33 HP:0001344
10 dystonia 33 HP:0001332
11 inability to walk 33 HP:0002540
12 epileptic encephalopathy 33 HP:0200134
13 involuntary movements 33 HP:0004305
14 poor eye contact 33 HP:0000817

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
frontal bossing

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

Muscle Soft Tissue:
hypotonia

Neurologic Central Nervous System:
spasticity
intellectual disability, severe
dystonia
involuntary movements
delayed psychomotor development, severe
more
Head And Neck Eyes:
strabismus
poor eye contact

Head And Neck Face:
midface hypoplasia, mild

Clinical features from OMIM:

617820

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 Recessive

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

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

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

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

MalaCards organs/tissues related to Neurodevelopmental Disorder with or Without Hyperkinetic Movements and Seizures, Autosomal Recessive:

42
Eye

Publications for Neurodevelopmental Disorder with or Without Hyperkinetic...

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

# Title Authors Year
1
Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. ( 28051072 )
2017
2
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. ( 27164704 )
2016

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 Recessive:

76
# Symbol AA change Variation ID SNP ID
1 GRIN1 p.Arg217Trp VAR_079984

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GRIN1 NM_007327.4(GRIN1): c.679G> C (p.Asp227His) single nucleotide variant Likely pathogenic rs869312865 GRCh37 Chromosome 9, 140051128: 140051128
2 GRIN1 NM_007327.4(GRIN1): c.679G> C (p.Asp227His) single nucleotide variant Likely pathogenic rs869312865 GRCh38 Chromosome 9, 137156676: 137156676
3 GRIN1 NM_007327.3(GRIN1): c.649C> T (p.Arg217Trp) single nucleotide variant Pathogenic rs200777850 GRCh38 Chromosome 9, 137149087: 137149087
4 GRIN1 NM_007327.3(GRIN1): c.649C> T (p.Arg217Trp) single nucleotide variant Pathogenic rs200777850 GRCh37 Chromosome 9, 140043539: 140043539
5 GRIN1 NM_007327.3(GRIN1): c.1666C> T (p.Gln556Ter) single nucleotide variant Pathogenic rs1554770057 GRCh37 Chromosome 9, 140056657: 140056657
6 GRIN1 NM_007327.3(GRIN1): c.1666C> T (p.Gln556Ter) single nucleotide variant Pathogenic rs1554770057 GRCh38 Chromosome 9, 137162205: 137162205
7 GRIN1 NM_007327.3(GRIN1): c.2530C> T (p.Arg844Cys) single nucleotide variant Pathogenic/Likely pathogenic rs1554770667 GRCh37 Chromosome 9, 140058297: 140058297
8 GRIN1 NM_007327.3(GRIN1): c.2530C> T (p.Arg844Cys) single nucleotide variant Pathogenic/Likely pathogenic rs1554770667 GRCh38 Chromosome 9, 137163845: 137163845

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 Recessive.

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
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10 dbSNP
11 DGIdb
17 EFO
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20 FMA
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31 HGMD
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33 HPO
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35 ICD10 via Orphanet
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50 NCI
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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
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