MCID: SPT025
MIFTS: 10

Sptbn4 Disorder

Categories: Ear diseases, Neuronal diseases

Aliases & Classifications for Sptbn4 Disorder

MalaCards integrated aliases for Sptbn4 Disorder:

Name: Sptbn4 Disorder 25
Neurodevelopmental Disorder with Hypotonia, Neuropathy, Deafness 25
Nedhnd 25

Classifications:



Summaries for Sptbn4 Disorder

MalaCards based summary : Sptbn4 Disorder, also known as neurodevelopmental disorder with hypotonia, neuropathy, deafness, is related to neurodevelopmental disorder with hypotonia, neuropathy, and deafness and 3-methylglutaconic aciduria, type iii. An important gene associated with Sptbn4 Disorder is SPTBN4 (Spectrin Beta, Non-Erythrocytic 4).

GeneReviews: NBK559435

Related Diseases for Sptbn4 Disorder

Diseases related to Sptbn4 Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 neurodevelopmental disorder with hypotonia, neuropathy, and deafness 11.2
2 3-methylglutaconic aciduria, type iii 10.0
3 alacrima, achalasia, and mental retardation syndrome 10.0
4 constipation 10.0
5 auditory neuropathy spectrum disorder 10.0
6 hypertonia 10.0
7 hypotonia 10.0
8 spasticity 10.0
9 cerebral visual impairment 10.0

Graphical network of the top 20 diseases related to Sptbn4 Disorder:



Diseases related to Sptbn4 Disorder

Symptoms & Phenotypes for Sptbn4 Disorder

Drugs & Therapeutics for Sptbn4 Disorder

Search Clinical Trials , NIH Clinical Center for Sptbn4 Disorder

Genetic Tests for Sptbn4 Disorder

Anatomical Context for Sptbn4 Disorder

Publications for Sptbn4 Disorder

Articles related to Sptbn4 Disorder:

# Title Authors PMID Year
1
A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability. 25 61
31857255 2020
2
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. 25
31230720 2019
3
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population. 25
31130284 2019
4
╬▓IV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy. 25
29861105 2018
5
Expanding the genetic heterogeneity of intellectual disability. 25
28940097 2017
6
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
7
A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness. 25
28540413 2017
8
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
9
SPTBN4 Disorder 61
32672909 2020

Variations for Sptbn4 Disorder

Expression for Sptbn4 Disorder

Search GEO for disease gene expression data for Sptbn4 Disorder.

Pathways for Sptbn4 Disorder

GO Terms for Sptbn4 Disorder

Sources for Sptbn4 Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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