NEDHAHM
MCID: NRD090
MIFTS: 18

Neurodevelopmental Disorder with Hypotonia and Autistic Features with or Without Hyperkinetic Movements (NEDHAHM)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Hypotonia and Autistic Features...

MalaCards integrated aliases for Neurodevelopmental Disorder with Hypotonia and Autistic Features with or Without Hyperkinetic Movements:

Name: Neurodevelopmental Disorder with Hypotonia and Autistic Features with or Without Hyperkinetic Movements 56 73 6
Nedhahm 56 73
Neurodevelopmental Disorder, Hypotonia and Autistic Features with/without Hyperkinetic Movements 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
variable severity
de novo mutation
five unrelated patients have been reported (last curated january 2020)


HPO:

31
neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Neurodevelopmental Disorder with Hypotonia and Autistic Features...

OMIM : 56 Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements (NEDHAHM) is characterized by axial hypotonia apparent from birth, global developmental delay with impaired intellectual development and poor or absent language acquisition, and behavioral abnormalities, including autistic features, poor social interaction, and hang-wringing. Most patients have childhood-onset seizures that are usually responsive to medication, and a subset of patients develop cortical visual impairment and involuntary hyperkinetic movements, including chorea and dystonia. Some of the features are reminiscent of Rett syndrome (RTT; 312750) (summary by Salpietro et al., 2019). (618760)

MalaCards based summary : Neurodevelopmental Disorder with Hypotonia and Autistic Features with or Without Hyperkinetic Movements, is also known as nedhahm. An important gene associated with Neurodevelopmental Disorder with Hypotonia and Autistic Features with or Without Hyperkinetic Movements is VAMP2 (Vesicle Associated Membrane Protein 2). Related phenotypes are intellectual disability and global developmental delay

UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements: An autosomal dominant disorder characterized by axial hypotonia apparent at birth, global developmental delay, intellectual disability, seizures, and autistic features. Involuntary hyperkinetic movements are present in some patients.

Related Diseases for Neurodevelopmental Disorder with Hypotonia and Autistic Features...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Hypotonia and Autistic Features...

Human phenotypes related to Neurodevelopmental Disorder with Hypotonia and Autistic Features with or Without Hyperkinetic Movements:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 global developmental delay 31 very rare (1%) HP:0001263
3 eeg abnormality 31 very rare (1%) HP:0002353
4 self-injurious behavior 31 very rare (1%) HP:0100716
5 dystonia 31 very rare (1%) HP:0001332
6 chorea 31 very rare (1%) HP:0002072
7 hypoplasia of the corpus callosum 31 very rare (1%) HP:0002079
8 autistic behavior 31 very rare (1%) HP:0000729
9 focal-onset seizure 31 very rare (1%) HP:0007359
10 muscular hypotonia of the trunk 31 very rare (1%) HP:0008936
11 inability to walk 31 very rare (1%) HP:0002540
12 cerebral visual impairment 31 very rare (1%) HP:0100704
13 stereotypical hand wringing 31 very rare (1%) HP:0012171
14 convulsive status epilepticus 31 very rare (1%) HP:0032660

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
delayed speech and language development
seizures
dystonia
chorea
more
Head And Neck Eyes:
poor visual fixation
cortical visual impairment (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
self-injurious behavior
autism spectrum disorder
poor social communication
repetitive stereotypic movement
hang-wringing
more
Muscle Soft Tissue:
hypotonia, axial

Clinical features from OMIM:

618760

Drugs & Therapeutics for Neurodevelopmental Disorder with Hypotonia and Autistic Features...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Hypotonia and Autistic Features with or Without Hyperkinetic Movements

Genetic Tests for Neurodevelopmental Disorder with Hypotonia and Autistic Features...

Anatomical Context for Neurodevelopmental Disorder with Hypotonia and Autistic Features...

Publications for Neurodevelopmental Disorder with Hypotonia and Autistic Features...

Articles related to Neurodevelopmental Disorder with Hypotonia and Autistic Features with or Without Hyperkinetic Movements:

# Title Authors PMID Year
1
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment. 6 56
30929742 2019
2
Synaptobrevin is essential for fast synaptic-vesicle endocytosis. 56
15475946 2004

Variations for Neurodevelopmental Disorder with Hypotonia and Autistic Features...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Hypotonia and Autistic Features with or Without Hyperkinetic Movements:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 VAMP2 NM_014232.3(VAMP2):c.223T>C (p.Ser75Pro)SNV Pathogenic 810675 17:8064985-8064985 17:8161667-8161667
2 VAMP2 NM_014232.3(VAMP2):c.233A>C (p.Glu78Ala)SNV Pathogenic 810676 17:8064975-8064975 17:8161657-8161657
3 VAMP2 NM_014232.3(VAMP2):c.230T>C (p.Phe77Ser)SNV Pathogenic 810677 17:8064978-8064978 17:8161660-8161660
4 VAMP2 NM_014232.3:c.128_130deldeletion Pathogenic 810678
5 VAMP2 NM_014232.3:c.135_137delshort repeat Pathogenic 810679 17:8065071-8065073 17:8161753-8161755

Expression for Neurodevelopmental Disorder with Hypotonia and Autistic Features...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Hypotonia and Autistic Features with or Without Hyperkinetic Movements.

Pathways for Neurodevelopmental Disorder with Hypotonia and Autistic Features...

GO Terms for Neurodevelopmental Disorder with Hypotonia and Autistic Features...

Sources for Neurodevelopmental Disorder with Hypotonia and Autistic Features...

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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