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
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H00856  Distal hereditary motor neuropathies (dHMN)
Human diseases in ICD-10 classification [BR:br08403]
 6. Diseases of the nervous system (G00-G99)
  G10-G14  Systemic atrophies primarily affecting the central nervous system
   G12  Spinal muscular atrophy and related syndromes
    H00856  Distal hereditary motor neuropathies (dHMN)
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] [KO:K19365]
(dHMN6) IGHMBP2 [HSA:3508] [KO:K19036]
(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)

» Japanese version

DBGET integrated database retrieval system