Details of Disease

General Information of Disease (ID: DISTSHF6)

Disease Name Neuronopathy, distal hereditary motor, type 5
Synonyms dHMN5; distal spinal muscular atrophy type 5; distal hereditary motor neuropathy type V; distal HMN V
Disease Hierarchy
DIS4M3WN: Neuronopathy, distal hereditary motor, autosomal dominant
DISTSHF6: Neuronopathy, distal hereditary motor, type 5
Disease Identifiers
MONDO ID
MONDO_0100350
MESH ID
C563443
UMLS CUI
C1833308
MedGen ID
318838
Orphanet ID
139536
SNOMED CT ID
1197152005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GART TTEXB9Z Strong Genetic Variation [1]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BSCL2 OT73V6Y4 Limited Biomarker [2]
GARS1 OT5B6R9Y Limited Genetic Variation [1]
MAD2L1BP OT2O2IUJ Limited Biomarker [3]
AIFM1 OTKPWB7Q Strong Genetic Variation [4]
REEP1 OTEMVFX7 Strong GermlineCausalMutation [5]
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References

1 A Novel Mutation of GARS in a Chinese Family With Distal Hereditary Motor Neuropathy Type V.Front Neurol. 2018 Jul 23;9:571. doi: 10.3389/fneur.2018.00571. eCollection 2018.
2 A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy.Seizure. 2019 Oct;71:161-165. doi: 10.1016/j.seizure.2019.07.019. Epub 2019 Jul 25.
3 Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.J Neurol Sci. 2007 Dec 15;263(1-2):100-6. doi: 10.1016/j.jns.2007.06.047. Epub 2007 Jul 30.
4 Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.PLoS One. 2017 Jun 8;12(6):e0178125. doi: 10.1371/journal.pone.0178125. eCollection 2017.
5 Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V. Am J Hum Genet. 2012 Jul 13;91(1):139-45. doi: 10.1016/j.ajhg.2012.05.007. Epub 2012 Jun 14.