NEDISHM
MCID: NRD066
MIFTS: 17

Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements (NEDISHM)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic...

MalaCards integrated aliases for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements:

Name: Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements 57 74 6
Nedishm 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


Classifications:



External Ids:

OMIM 57 618425
MeSH 44 D065886
MedGen 42 CN258385

Summaries for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic...

OMIM : 57 Neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM) is an autosomal recessive disorder characterized by global developmental delay apparent in infancy. Most patients have mildly delayed walking, speech and language delay, and a hyperkinetic movement disorder with dystonia, tremor, ataxia, or chorea. Some may develop seizures that tend to abate (summary by Khan et al., 2019). (618425)

MalaCards based summary : Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements, is also known as nedishm. An important gene associated with Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements is ZNF142 (Zinc Finger Protein 142). Affiliated tissues include brain.

UniProtKB/Swiss-Prot : 74 Neurodevelopmental disorder with impaired speech and hyperkinetic movements: An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, delayed walking, poor or absent speech, and a hyperkinetic movement disorder with dystonia, tremor, ataxia, or chorea. Some patients develop seizures.

Related Diseases for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic...

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
tremor
chorea
global developmental delay
dystonia
more
Head And Neck Neck:
torticollis

Head And Neck Head:
dolichocephaly

Head And Neck Face:
facial dyskinesia

Clinical features from OMIM:

618425

Drugs & Therapeutics for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements

Genetic Tests for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic...

Anatomical Context for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements:

41
Brain

Publications for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic...

Articles related to Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements:

# Title Authors PMID Year
1
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. 8 71
31036918 2019

Variations for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ZNF142 NM_001105537.3(ZNF142): c.1292delG (p.Cys431Leufs) deletion Pathogenic/Likely pathogenic 2:219511053-219511053 2:218646330-218646330
2 ZNF142 NM_001105537.3(ZNF142): c.817_818delAA (p.Lys273Glufs) deletion Pathogenic/Likely pathogenic 2:219513813-219513814 2:218649090-218649091
3 ZNF142 NM_001105537.3(ZNF142): c.3175C> T (p.Arg1059Ter) single nucleotide variant Pathogenic/Likely pathogenic 2:219508064-219508064 2:218643341-218643341
4 ZNF142 NM_001105537.3(ZNF142): c.4498C> T (p.Arg1500Trp) single nucleotide variant Conflicting interpretations of pathogenicity 2:219505483-219505483 2:218640760-218640760
5 ZNF142 NM_001105537.3(ZNF142): c.3698G> T (p.Cys1233Phe) single nucleotide variant Conflicting interpretations of pathogenicity 2:219507541-219507541 2:218642818-218642818
6 ZNF142 NM_001105537.3(ZNF142): c.4185G> A (p.Leu1395=) single nucleotide variant no interpretation for the single variant 2:219507054-219507054 2:218642331-218642331
7 ZNF142 NM_001105537.3(ZNF142): c.4183delC (p.Leu1395Trpfs) deletion no interpretation for the single variant 2:219507056-219507056 2:218642333-218642333

Expression for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements.

Pathways for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic...

GO Terms for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic...

Sources for Neurodevelopmental Disorder with Impaired Speech and 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
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
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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