NEDHND
MCID: NRD051
MIFTS: 23

Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness (NEDHND)

Categories: Ear diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Neurodevelopmental Disorder with Hypotonia, Neuropathy, and...

MalaCards integrated aliases for Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness:

Name: Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness 56 73
Myopathy, Congenital, with Neuropathy and Deafness 56 73 6
Nedhnd 56 73
Cmnd 56 73
Myopathy, Congenital, with Neuropathy and Deafness; Cmnd 56

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

31
neurodevelopmental disorder with hypotonia, neuropathy, and deafness:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Neurodevelopmental Disorder with Hypotonia, Neuropathy, and...

UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder with hypotonia, neuropathy, and deafness: An autosomal recessive disorder characterized by congenital myopathy with hypotonia and muscle weakness manifesting after birth and progressing to generalized muscle atrophy, central deafness with absent brainstem-evoked potentials, and a combined axonal and demyelinating motor neuropathy.

MalaCards based summary : Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness, is also known as myopathy, congenital, with neuropathy and deafness. An important gene associated with Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness is SPTBN4 (Spectrin Beta, Non-Erythrocytic 4). Affiliated tissues include testes and temporal lobe, and related phenotypes are seizures and scoliosis

More information from OMIM: 617519

Related Diseases for Neurodevelopmental Disorder with Hypotonia, Neuropathy, and...

Symptoms & Phenotypes for Neurodevelopmental Disorder with Hypotonia, Neuropathy, and...

Human phenotypes related to Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 seizures 31 very rare (1%) HP:0001250
2 scoliosis 31 HP:0002650
3 facial palsy 31 HP:0010628
4 high palate 31 HP:0000218
5 global developmental delay 31 HP:0001263
6 feeding difficulties 31 HP:0011968
7 areflexia 31 HP:0001284
8 absent speech 31 HP:0001344
9 severe muscular hypotonia 31 HP:0006829
10 myopathic facies 31 HP:0002058
11 distal amyotrophy 31 HP:0003693
12 generalized amyotrophy 31 HP:0003700
13 cerebral visual impairment 31 HP:0100704
14 demyelinating peripheral neuropathy 31 HP:0007108
15 ankle flexion contracture 31 HP:0006466

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis

Neurologic Peripheral Nervous System:
areflexia
axonal and demyelinating peripheral neuropathy

Head And Neck Face:
myopathic facies
facial weakness

Head And Neck Ears:
auditory neuropathy
deafness, central
absent brainstem evoked potentials

Muscle Soft Tissue:
hypotonia, severe
generalized muscle atrophy
type 1 fiber atrophy
neurogenic pattern seen on emg
denervation atrophy

Head And Neck Eyes:
cortical visual impairment

Abdomen Gastrointestinal:
feeding difficulties

Neurologic Central Nervous System:
absent speech
seizures (in some patients)
delayed psychomotor development, profound
hypotonia, profound
inability to sit or stand

Head And Neck Mouth:
high-arched palate

Laboratory Abnormalities:
normal serum creatine kinase

Skeletal Feet:
ankle contractures

Head And Neck Head:
absent head control

Clinical features from OMIM:

617519

Drugs & Therapeutics for Neurodevelopmental Disorder with Hypotonia, Neuropathy, and...

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness

Genetic Tests for Neurodevelopmental Disorder with Hypotonia, Neuropathy, and...

Anatomical Context for Neurodevelopmental Disorder with Hypotonia, Neuropathy, and...

MalaCards organs/tissues related to Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness:

40
Testes, Temporal Lobe

Publications for Neurodevelopmental Disorder with Hypotonia, Neuropathy, and...

Articles related to Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness:

(show all 17)
# Title Authors PMID Year
1
βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy. 56 6
29861105 2018
2
A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness. 56 6
28540413 2017
3
Mutant beta-spectrin 4 causes auditory and motor neuropathies in quivering mice. 56
11528393 2001
4
The quivering mutant mouse: hereditary deafness of central origin. 56
6637453 1983
5
Genetic deafness of central origin. 56
24010186 1983
6
Sensorimotor synchronization in patients with mechanical neck disorders. 61
31116625 2019
7
Report on the accident at Windscale No. 1 Pile on 10 October 1957. 61
28854153 2017
8
Prediction of neuromotor outcome in infants born preterm at 11 years of age using volumetric neonatal magnetic resonance imaging and neurological examinations. 61
27307195 2016
9
Neonatal fatty acid status and neurodevelopmental outcome at 9 years. 61
26231619 2015
10
Trail Making Test error analysis in classic motor neuron disease. 61
23161259 2013
11
Radioactive waste policy and legislation: 50 years on from the 1960 Act. 61
21865612 2011
12
Minor neurological dysfunction and IQ in 9-year-old children born at term. 61
21401578 2011
13
A multifunctional nano device as non-viral vector for gene delivery: in vitro characteristics and transfection. 61
17321625 2007
14
Cognitive change in motor neurone disease/amyotrophic lateral sclerosis (MND/ALS). 61
11090859 2000
15
Medial temporal lobe metabolic impairment in dementia associated with motor neuron disease. 61
10526199 1999
16
Frontal lobe dementia and motor neuron disease. 61
8841960 1996
17
Inter-relation between "classic" motor neuron disease and frontotemporal dementia: neuropsychological and single photon emission computed tomography study. 61
7745399 1995

Variations for Neurodevelopmental Disorder with Hypotonia, Neuropathy, and...

ClinVar genetic disease variations for Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SPTBN4 NM_020971.3(SPTBN4):c.1597C>T (p.Gln533Ter)SNV Pathogenic 375254 rs1114167445 19:41009971-41009971 19:40504064-40504064
2 SPTBN4 NM_020971.3(SPTBN4):c.3820G>T (p.Glu1274Ter)SNV Pathogenic 559545 rs1555818396 19:41029509-41029509 19:40523602-40523602
3 SPTBN4 NM_020971.3(SPTBN4):c.1511G>A (p.Arg504Gln)SNV Pathogenic 559547 rs765087147 19:41009885-41009885 19:40503978-40503978
4 SPTBN4 NM_020971.3(SPTBN4):c.7303C>T (p.Arg2435Cys)SNV Pathogenic 559548 rs777273785 19:41076618-41076618 19:40570712-40570712
5 SPTBN4 NM_020971.3(SPTBN4):c.7453del (p.Ala2485fs)deletion Pathogenic 559549 rs1555721549 19:41078057-41078057 19:40572151-40572151
6 SPTBN4 NM_020971.3(SPTBN4):c.4584+1G>TSNV Likely pathogenic 800778 19:41055320-41055320 19:40549414-40549414
7 SPTBN4 NM_020971.3(SPTBN4):c.2709G>A (p.Trp903Ter)SNV Uncertain significance 218783 rs864309618 19:41019405-41019405 19:40513498-40513498

Expression for Neurodevelopmental Disorder with Hypotonia, Neuropathy, and...

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Hypotonia, Neuropathy, and Deafness.

Pathways for Neurodevelopmental Disorder with Hypotonia, Neuropathy, and...

GO Terms for Neurodevelopmental Disorder with Hypotonia, Neuropathy, and...

Sources for Neurodevelopmental Disorder with Hypotonia, Neuropathy, and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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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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