NDHMSR
MCID: NRD041
MIFTS: 22

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 57 74 29 6
Ndhmsr 57 74
Neurodevelopmental Disorder with Hyperkinetic Movements Without Seizures, Autosomal Recessive 6

Characteristics:

OMIM:

57
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:

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


Classifications:



External Ids:

OMIM 57 617820
MeSH 44 D008607

Summaries for Neurodevelopmental Disorder with or Without Hyperkinetic...

OMIM : 57 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 and neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant. 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 : 74 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 11.9
2 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 9.5 LOC105376328 GRIN1

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

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

32 (show all 17)
# Description HPO Frequency HPO Source Accession
1 cerebral cortical atrophy 32 very rare (1%) HP:0002120
2 hypoplasia of the corpus callosum 32 very rare (1%) HP:0002079
3 frontal bossing 32 HP:0002007
4 seizures 32 HP:0001250
5 spasticity 32 HP:0001257
6 self-injurious behavior 32 HP:0100716
7 global developmental delay 32 HP:0001263
8 intellectual disability, severe 32 HP:0010864
9 generalized hypotonia 32 HP:0001290
10 strabismus 32 HP:0000486
11 absent speech 32 HP:0001344
12 dystonia 32 HP:0001332
13 inability to walk 32 HP:0002540
14 epileptic encephalopathy 32 HP:0200134
15 involuntary movements 32 HP:0004305
16 midface retrusion 32 HP:0011800
17 poor eye contact 32 HP:0000817

Symptoms via clinical synopsis from OMIM:

57
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 29 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:

41
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 PMID Year
1
Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy. 8 71
28051072 2017
2
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 8 71
27164704 2016

Variations for Neurodevelopmental Disorder with or Without Hyperkinetic...

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

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

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

74
# Symbol AA change Variation ID SNP ID
1 GRIN1 p.Arg217Trp VAR_079984

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
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
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44 MeSH
45 MESH via Orphanet
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49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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