MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
Parent Node:
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Hereditary Sensory and Motor Neuropathy (D015417)
..Starting node
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Hereditary Motor And Sensory Neuropathy VI (C562851)

       Child Nodes:



 Sister Nodes: 
..expandAlstrom Syndrome (D056769)
..expandCardioneuromyopathy with Hyaline Masses and Nemaline Rods (C564655)
..expandCharcot-Marie-Tooth Disease (D002607) Child59  LSDB C:1
..expandGiant Axonal Neuropathy (D056768) Child1
..expandHagemoser Weinstein Bresnick syndrome (C537626)
..expandHereditary Motor And Sensory Neuropathy VI (C562851)  LSDB  L: 00485;
..expandHypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy (C565492)
..expandNeuropathy, Distal Hereditary Motor, Type VIIA (C563562)
..expandNeuropathy, hereditary motor and sensory, Okinawa type (C535717)
..expandNeuropathy, hereditary motor and sensory, Russe type (C535813)
..expandNEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB (OMIM:616505)
..expandNeuropathy, Hereditary Motor and Sensory, with Excessive Myelin Folding Complex, Autosomal Recessive (C564947)
..expandNeuropathy, Hereditary Sensorimotor, with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance (C563517)
..expandNeuropathy, Hereditary Sensory, with Spastic Paraplegia, Autosomal Recessive (C564948)
..expandNeuropathy, Hereditary Thermosensitive (C566575)
..expandPolyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive (C565773)
..expandRefsum Disease (D012035) Child4
..expandSensory ataxic neuropathy, dysarthria, and ophthalmoparesis (C537583)  LSDB  L: 00042;
..expandSlowed Nerve Conduction Velocity, Autosomal Dominant (C564269)
..expandSpastic Paraplegia, Hereditary (D015419) Child78
..expandSpastic Paraplegia, Optic Atrophy, and Neuropathy (C563702)
..expandTamari Goodman syndrome (C536896)
..expandTomaculous neuropathy (C536965)
..expandTremor hereditary essential, 2 (C536546)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:5583
Name:Hereditary Motor And Sensory Neuropathy VI
Definition:
Alternative IDs:OMIM:601152
ParentIDs:MESH:D015417
TreeNumbers:C10.500.300/C562851 |C10.574.500.495/C562851 |C10.668.829.800.300/C562851 |C16.131.666.300/C562851 |C16.320.400.375/C562851
Synonyms:Charcot-Marie-Tooth Disease, Type 6 |CHARCOT-MARIE-TOOTH DISEASE, TYPE 6A |CMT6 |CMT6A |HMSN6 |HMSN6A |HMSN VI |HMSN VIA |NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VI |NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA |Peripheral Neuropathy And Optic Atrophy
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C562851
MeSH: C562851
OMIM: 601152;
MSeqDR LSDB: 00485;  
Genes: EGF; MFN2;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000007Autosomal recessive inheritance
3 HP:0003593Infantile onset
4 HP:0000551Abnormality of color vision
5 HP:0000649Abnormality of visual evoked potentials
6 HP:0000458Anosmia
7 HP:0001284Areflexia
8 HP:0003378Axonal degeneration/regeneration
9 HP:0000603Central scotoma
10 HP:0003431Decreased motor nerve conduction velocity
11 HP:0003693Distal amyotrophy
12 HP:0002460Distal muscle weakness
NAMDC:  Muscle weakness: distal
13 HP:0002936Distal sensory impairment
14 HP:0003409Distal sensory impairment of all modalities
15 HP:0000641Dysmetric saccades
16 HP:0001265Hyporeflexia
17 HP:0003690Limb muscle weakness
18 HP:0002938Lumbar hyperlordosis
19 HP:0008587Mild neurosensory hearing impairmentHP:0040283
20 HP:0000648Optic atrophy
21 HP:0000543Optic disc pallor
22 HP:0001761Pes cavus
23 HP:0002403Positive Romberg sign
24 HP:0003701Proximal muscle weakness
NAMDC:  Muscle weakness: proximal
25 HP:0002650Scoliosis
26 HP:0007924Slow decrease in visual acuity
27 HP:0003376Steppage gait
28 HP:0000360Tinnitus
29 HP:0001604Vocal cord paresis
Disease Causing ClinVar Variants
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000116688 MSeqDR Search EnsemblMFN2150mitofusin 2 [Source:HGNC Symbol;Acc:16877]00485

*Click on gene and variants to check details. Or view all variants in new page