KEGG   DISEASE: H00856Help
Entry
H00856                      Disease                                

Name
Distal hereditary motor neuropathies (dHMN)
Description
Distal hereditary motor neuropathies (dHMN) comprise a heterogenous group of diseases that share the common feature of a length-dependent predominantly motor neuropathy. Many forms of dHMN have minor sensory abnormalities and/or a significant upper-motor-neuron component, and there is often an overlap with the axonal forms of Charcot-Marie-Tooth disease (CMT2) [DS:H00264] and with juvenile forms of amyotrophic lateral sclerosis [DS:H00058] and hereditary spastic paraplegia [DS:H00266]. The causative genes with autosomal dominant, recessive, and X-linked patterns of inheritance have implicated proteins with diverse functions.
Category
Nervous system disease
BRITE hierarchy
Pathway
MAPK signaling pathway
VEGF signaling pathway
Aminoacyl-tRNA biosynthesis
Phagosome
Vasopressin-regulated water reabsorption
Mineral absorption
Gene
(dHMN1/2) HSPB1 [HSA:3315] [KO:K04455]
(dHMN1/2) HSPB8 [HSA:26353] [KO:K08879]
(dHMN2) HSPB3 [HSA:26353] [KO:K08879]
(dHMN1/5) GARS [HSA:2617] [KO:K01880]
(dHMN1) DYNC1H1 [HSA:1778] [KO:K10413]
(dHMN2/5/dHMN and pyramidal features) BSCL2 [HSA:26580]
(dHMN6) IGHMBP2 [HSA:3508]
(dHMN7) DCTN1 [HSA:1639] [KO:K04648]
(dHMN7/Congenital distal SMA) TRPV4 [HSA:59341] [KO:K04973]
(X-linked dHMN) ATP7A [HSA:538] [KO:K17686]
(dHMN and pyramidal features) SETX [HSA:23064] [KO:K10706]
Other DBs
Reference
PMID:22028385 (description, gene)
  Authors
Rossor AM, Kalmar B, Greensmith L, Reilly MM
  Title
The distal hereditary motor neuropathies.
  Journal
J Neurol Neurosurg Psychiatry 83:6-14 (2012)
Reference
PMID:19917815 (description, gene)
  Authors
Reilly MM, Shy ME
  Title
Diagnosis and new treatments in genetic neuropathies.
  Journal
J Neurol Neurosurg Psychiatry 80:1304-14 (2009)

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