NDHMSR
MCID: NRD041
MIFTS: 23

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

Categories: Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare 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 56 73 29 6
Ndhmsr 56 73
Neurodevelopmental Disorder with Hyperkinetic Movements Without Seizures, Autosomal Recessive 6

Characteristics:

OMIM:

56
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:

31
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 : 56 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 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 : 73 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 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 11.9

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

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

31 (show all 17)
# Description HPO Frequency HPO Source Accession
1 cerebral cortical atrophy 31 very rare (1%) HP:0002120
2 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
3 frontal bossing 31 HP:0002007
4 seizures 31 HP:0001250
5 spasticity 31 HP:0001257
6 self-injurious behavior 31 HP:0100716
7 global developmental delay 31 HP:0001263
8 midface retrusion 31 HP:0011800
9 intellectual disability, severe 31 HP:0010864
10 generalized hypotonia 31 HP:0001290
11 strabismus 31 HP:0000486
12 absent speech 31 HP:0001344
13 dystonia 31 HP:0001332
14 inability to walk 31 HP:0002540
15 epileptic encephalopathy 31 HP:0200134
16 involuntary movements 31 HP:0004305
17 poor eye contact 31 HP:0000817

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 56 6
28051072 2017
2
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. 56 6
27164704 2016
3
GRIN1-Related Neurodevelopmental Disorder 6
31219694 2019

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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GRIN1 NM_007327.4(GRIN1):c.649C>T (p.Arg217Trp)SNV Pathogenic 487505 rs200777850 9:140043539-140043539 9:137149087-137149087
2 GRIN1 NM_007327.4(GRIN1):c.1666C>T (p.Gln556Ter)SNV Pathogenic 487506 rs1554770057 9:140056657-140056657 9:137162205-137162205
3 GRIN1 NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys)SNV Pathogenic/Likely pathogenic 521354 rs1554770667 9:140058297-140058297 9:137163845-137163845
4 GRIN1 NM_007327.4(GRIN1):c.679G>C (p.Asp227His)SNV Likely pathogenic 224815 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:

73
# 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....