NEDISHM
MCID: NRD066
MIFTS: 19

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 56 73 6
Nedishm 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

31
neurodevelopmental disorder with impaired speech and hyperkinetic movements:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



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

OMIM : 56 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, and related phenotypes are bilateral tonic-clonic seizure and global developmental delay

UniProtKB/Swiss-Prot : 73 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...

Human phenotypes related to Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 bilateral tonic-clonic seizure 31 very rare (1%) HP:0002069
2 global developmental delay 31 HP:0001263
3 delayed speech and language development 31 HP:0000750
4 ataxia 31 HP:0001251
5 tremor 31 HP:0001337
6 dolichocephaly 31 HP:0000268
7 chorea 31 HP:0002072
8 torticollis 31 HP:0000473
9 hyperkinetic movements 31 HP:0002487

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
ataxia
tremor
dystonia
chorea
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:

40
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. 56 6
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 Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZNF142 NM_001105537.4(ZNF142):c.1292del (p.Cys431fs)deletion Pathogenic 627542 rs1559296368 2:219511053-219511053 2:218646330-218646330
2 ZNF142 NM_001105537.4(ZNF142):c.817_818del (p.Lys273fs)deletion Pathogenic 627543 rs1447313633 2:219513813-219513814 2:218649090-218649091
3 ZNF142 NM_001105537.4(ZNF142):c.3175C>T (p.Arg1059Ter)SNV Likely pathogenic 627545 rs546151500 2:219508064-219508064 2:218643341-218643341
4 ZNF142 NM_001105537.4(ZNF142):c.4654C>T (p.Arg1552Cys)SNV Likely pathogenic 807526 2:219503472-219503472 2:218638749-218638749
5 ZNF142 NM_001105537.4(ZNF142):c.3698G>T (p.Cys1233Phe)SNV Conflicting interpretations of pathogenicity 627547 rs1275959058 2:219507541-219507541 2:218642818-218642818
6 ZNF142 NM_001105537.4(ZNF142):c.4498C>T (p.Arg1500Trp)SNV Conflicting interpretations of pathogenicity 627544 rs367658234 2:219505483-219505483 2:218640760-218640760
7 ZNF142 NM_001105537.4(ZNF142):c.4183del (p.Leu1395fs)deletion no interpretation for the single variant 631475 rs776031837 2:219507056-219507056 2:218642333-218642333
8 ZNF142 NM_001105537.4(ZNF142):c.4185G>A (p.Leu1395=)SNV no interpretation for the single variant 631476 rs748323893 2:219507054-219507054 2:218642331-218642331

UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements:

73
# Symbol AA change Variation ID SNP ID
1 ZNF142 p.Cys1233Phe VAR_082095 rs127595905
2 ZNF142 p.Arg1500Thr VAR_082097

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 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
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