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	charcot-marie-tooth disease

Disease ID	420
Disease	charcot-marie-tooth disease
Definition	A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)
Synonym	atrophies, peroneal muscular atrophy, muscular, peroneal atrophy, peroneal muscular charcot marie dis charcot marie disease charcot marie tooth dis charcot marie tooth disease charcot marie tooth hereditary neuropathy charcot marie tooth muscular atrophy charcot marie tooth syndrome charcot-marie disease charcot-marie-tooth charcot-marie-tooth atrophy charcot-marie-tooth disease (disorder) charcot-marie-tooth disease [disease/finding] charcot-marie-tooth hereditary neuropathy charcot-marie-tooth syndrome cmt - charcot-marie-tooth disease hereditary neuropathy, charcot-marie-tooth hereditary sensory-motor neuropathy, nos muscular atrophies, peroneal muscular atrophy, peroneal neuropathic muscular atrophy peroneal muscle atrophy peroneal muscular atrophies peroneal muscular atrophy peroneal muscular atrophy nos peroneal muscular atrophy nos (disorder) syndrome, charcot-marie-tooth
Orphanet	ORPHANET:166
OMIM	OMIM:118200
DOID	DOID:10595 DOID:2477
UMLS	C0007959
MeSH	D002607
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:32) C0442874 \| neuropathy \| 6 C0011847 \| diabetes \| 2 C0011849 \| diabetes mellitus \| 2 C0270922 \| demyelinating polyneuropathy \| 2 C0023449 \| acute lymphoblastic leukemia \| 1 C0003864 \| arthritis \| 1 C0027813 \| neuritis \| 1 C0011882 \| diabetic neuropathy \| 1 C0038828 \| superior mesenteric artery syndrome \| 1 C0029124 \| optic atrophy \| 1 C0270736 \| essential tremor \| 1 C0031117 \| peripheral neuropathies \| 1 C0152025 \| polyneuropathy \| 1 C0007682 \| cns disorder \| 1 C0011860 \| type 2 diabetes \| 1 C0270922 \| demyelinating neuropathy \| 1 C0033953 \| sexual dysfunction \| 1 C0027127 \| myotonia congenita \| 1 C0017668 \| focal segmental glomerulosclerosis \| 1 C0270612 \| leukoencephalopathy \| 1 C0851578 \| sleep disorders \| 1 C0023418 \| leukemia \| 1 C0598589 \| hereditary neuropathy \| 1 C0036439 \| scoliosis \| 1 C0031117 \| peripheral neuropathy \| 1 C0023448 \| lymphoblastic leukemia \| 1 C0026848 \| myopathy \| 1 C0878544 \| cardiomyopathy \| 1 C0003872 \| psoriatic arthritis \| 1 C0011860 \| type 2 diabetes mellitus \| 1 C0018784 \| sensorineural hearing loss \| 1 C0029134 \| optic neuritis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:61) 1959 \| EGR2 \| UniProtKB-KW;GHR 5376 \| PMP22 \| CTD_human;UniProtKB-KW;GHR 7415 \| VCP \| UniProtKB-KW 1639 \| DCTN1 \| CLINVAR 54332 \| GDAP1 \| CLINVAR;UniProtKB-KW;GHR 57716 \| PRX \| UniProtKB-KW;GHR 26580 \| BSCL2 \| GHR 3315 \| HSPB1 \| CLINVAR;UniProtKB-KW;GHR 81857 \| MED25 \| CLINVAR;UniProtKB-KW;GHR 3098 \| HK1 \| UniProtKB-KW 4141 \| MARS \| CLINVAR;UniProtKB-KW 3908 \| LAMA2 \| CLINVAR 64423 \| INF2 \| UniProtKB-KW;GHR 9131 \| AIFM1 \| UniProtKB-KW;GHR 6834 \| SURF1 \| UniProtKB-KW 3300 \| DNAJB2 \| CLINVAR 80208 \| SPG11 \| UniProtKB-KW 10397 \| NDRG1 \| UniProtKB-KW;GHR 8565 \| YARS \| UniProtKB-KW;GHR 59341 \| TRPV4 \| CLINVAR;CTD_human;UniProtKB-KW;GHR 5631 \| PRPS1 \| UniProtKB-KW;GHR 23095 \| KIF1B \| CLINVAR;UniProtKB-KW;GHR 55526 \| DHTKD1 \| UniProtKB-KW;GHR 4669 \| NAGLU \| UniProtKB-KW 8898 \| MTMR2 \| UniProtKB-KW;GHR 16 \| AARS \| CLINVAR;UniProtKB-KW;GHR 1778 \| DYNC1H1 \| CLINVAR;UniProtKB-KW;GHR 9896 \| FIG4 \| CTD_human;UniProtKB-KW;GHR 3035 \| HARS \| UniProtKB-KW 4000 \| LMNA \| CLINVAR;UniProtKB-KW;GHR 3236 \| HOXD10 \| CTD_human 79628 \| SH3TC2 \| CLINVAR;UniProtKB-KW;GHR 4311 \| MME \| UniProtKB-KW 10516 \| FBLN5 \| UniProtKB-KW 57449 \| PLEKHG5 \| UniProtKB-KW 4744 \| NEFH \| UniProtKB-KW 5428 \| POLG \| CLINVAR 4359 \| MPZ \| CLINVAR;CTD_human;UniProtKB-KW;GHR 3508 \| IGHMBP2 \| CLINVAR;UniProtKB-KW 5165 \| PDK3 \| UniProtKB-KW 26353 \| HSPB8 \| CLINVAR;UniProtKB-KW;GHR 1785 \| DNM2 \| CLINVAR;UniProtKB-KW;GHR 23064 \| SETX \| CLINVAR 4747 \| NEFL \| CLINVAR 9516 \| LITAF \| UniProtKB-KW;GHR 91137 \| SLC25A46 \| CTD_human;UniProtKB-KW 7879 \| RAB7A \| UniProtKB-KW;GHR 121512 \| FGD4 \| UniProtKB-KW;GHR 59345 \| GNB4 \| UniProtKB-KW 81846 \| SBF2 \| UniProtKB-KW;GHR 2705 \| GJB1 \| CLINVAR;UniProtKB-KW;GHR 65055 \| REEP1 \| CLINVAR 22880 \| MORC2 \| UniProtKB-KW 1337 \| COX6A1 \| UniProtKB-KW 90678 \| LRSAM1 \| CLINVAR;UniProtKB-KW;GHR 2617 \| GARS \| UniProtKB-KW;GHR 9639 \| ARHGEF10 \| CLINVAR 6305 \| SBF1 \| CLINVAR;UniProtKB-KW 9927 \| MFN2 \| CLINVAR;UniProtKB-KW;GHR 3735 \| KARS \| UniProtKB-KW;GHR 23321 \| TRIM2 \| UniProtKB-KW
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:20) 1959 \| EGR2 \| CIPHER 2617 \| GARS \| CIPHER 54332 \| GDAP1 \| CIPHER 2705 \| GJB1 \| CIPHER 3315 \| HSPB1 \| CIPHER 23095 \| KIF1B \| CIPHER 9516 \| LITAF \| CIPHER 3998 \| LMAN1 \| CIPHER 4000 \| LMNA \| CIPHER 9927 \| MFN2 \| CIPHER 4359 \| MPZ \| CIPHER;CTD_human 8898 \| MTMR2 \| CIPHER 10397 \| NDRG1 \| CIPHER 5376 \| PMP22 \| CIPHER;CTD_human 5630 \| PRPH \| CIPHER 57716 \| PRX \| CIPHER 3236 \| HOXD10 \| CTD_human 9896 \| FIG4 \| CTD_human 91137 \| SLC25A46 \| CTD_human 59341 \| TRPV4 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:166) 10121 \| ACTR1A \| 2.371 \| DISEASES 10097 \| ACTR2 \| 1.204 \| DISEASES 55811 \| ADCY10 \| 2.79 \| DISEASES 10555 \| AGPAT2 \| 1.972 \| DISEASES 1645 \| AKR1C1 \| 1.001 \| DISEASES 1174 \| AP1S1 \| 1.717 \| DISEASES 9639 \| ARHGEF10 \| 4.185 \| DISEASES 50650 \| ARHGEF3 \| 1.693 \| DISEASES 538 \| ATP7A \| 2.039 \| DISEASES 9531 \| BAG3 \| 1.4 \| DISEASES 9031 \| BAZ1B \| 1.465 \| DISEASES 79738 \| BBS10 \| 1.045 \| DISEASES 23299 \| BICD2 \| 1.649 \| DISEASES 26580 \| BSCL2 \| 3.899 \| DISEASES 820 \| CAMP \| 1.324 \| DISEASES 10575 \| CCT4 \| 1.494 \| DISEASES 29965 \| CDIP1 \| 1.584 \| DISEASES 374286 \| CDRT1 \| 2.979 \| DISEASES 146822 \| CDRT15 \| 3.435 \| DISEASES 400916 \| CHCHD10 \| 2.19 \| DISEASES 51142 \| CHCHD2 \| 1.528 \| DISEASES 1270 \| CNTF \| 2.123 \| DISEASES 84701 \| COX4I2 \| 1.221 \| DISEASES 113612 \| CYP2U1 \| 1.636 \| DISEASES 1639 \| DCTN1 \| 2.307 \| DISEASES 10540 \| DCTN2 \| 1.878 \| DISEASES 11218 \| DDX20 \| 1.176 \| DISEASES 1730 \| DIAPH2 \| 1.231 \| DISEASES 81624 \| DIAPH3 \| 1.177 \| DISEASES 1739 \| DLG1 \| 3.231 \| DISEASES 1756 \| DMD \| 1.215 \| DISEASES 196385 \| DNAH10 \| 2.931 \| DISEASES 3300 \| DNAJB2 \| 3.637 \| DISEASES 1759 \| DNM1 \| 1.467 \| DISEASES 10059 \| DNM1L \| 1.332 \| DISEASES 1785 \| DNM2 \| 4.239 \| DISEASES 1821 \| DRP2 \| 3.728 \| DISEASES 1778 \| DYNC1H1 \| 4.212 \| DISEASES 2010 \| EMD \| 1.916 \| DISEASES 2013 \| EMP2 \| 1.118 \| DISEASES 51013 \| EXOSC1 \| 1.234 \| DISEASES 10516 \| FBLN5 \| 1.533 \| DISEASES 121512 \| FGD4 \| 4.982 \| DISEASES 342184 \| FMN1 \| 2.88 \| DISEASES 2617 \| GARS \| 5.528 \| DISEASES 57704 \| GBA2 \| 2.16 \| DISEASES 78997 \| GDAP1L1 \| 3.927 \| DISEASES 2701 \| GJA4 \| 1.601 \| DISEASES 2705 \| GJB1 \| 7.989 \| DISEASES 2706 \| GJB2 \| 2.841 \| DISEASES 2707 \| GJB3 \| 1.512 \| DISEASES 2709 \| GJB5 \| 1.876 \| DISEASES 10052 \| GJC1 \| 1.739 \| DISEASES 57165 \| GJC2 \| 3.794 \| DISEASES 349149 \| GJC3 \| 3.624 \| DISEASES 84163 \| GTF2IRD2 \| 2.387 \| DISEASES 3005 \| H1F0 \| 1.471 \| DISEASES 3032 \| HADHB \| 1.933 \| DISEASES 10013 \| HDAC6 \| 2.468 \| DISEASES 9953 \| HS3ST3B1 \| 2.067 \| DISEASES 3316 \| HSPB2 \| 3.164 \| DISEASES 23463 \| ICMT \| 1.961 \| DISEASES 8518 \| IKBKAP \| 1.284 \| DISEASES 9118 \| INA \| 1.936 \| DISEASES 64423 \| INF2 \| 4.367 \| DISEASES 3633 \| INPP5B \| 1.446 \| DISEASES 56704 \| JPH1 \| 4.99 \| DISEASES 81033 \| KCNH6 \| 1.621 \| DISEASES 547 \| KIF1A \| 1.865 \| DISEASES 10112 \| KIF20A \| 1.408 \| DISEASES 3798 \| KIF5A \| 1.862 \| DISEASES 23008 \| KLHDC10 \| 3.131 \| DISEASES 11275 \| KLHL2 \| 1.994 \| DISEASES 3920 \| LAMP2 \| 1.508 \| DISEASES 100506195 \| LARGE-AS1 \| 1.824 \| DISEASES 9516 \| LITAF \| 5.642 \| DISEASES 4000 \| LMNA \| 3.466 \| DISEASES 84823 \| LMNB2 \| 1.228 \| DISEASES 121227 \| LRIG3 \| 1.733 \| DISEASES 114659 \| LRRC37B \| 2.584 \| DISEASES 4099 \| MAG \| 2.964 \| DISEASES 9863 \| MAGI2 \| 1.194 \| DISEASES 4155 \| MBP \| 1.287 \| DISEASES 81857 \| MED25 \| 2.008 \| DISEASES 4359 \| MPZ \| 7.771 \| DISEASES 9019 \| MPZL1 \| 2.227 \| DISEASES 4508 \| MT-ATP6 \| 1.827 \| DISEASES 4534 \| MTM1 \| 5.078 \| DISEASES 8776 \| MTMR1 \| 2.303 \| DISEASES 8898 \| MTMR2 \| 6.772 \| DISEASES 8897 \| MTMR3 \| 1.826 \| DISEASES 9107 \| MTMR6 \| 3.751 \| DISEASES 4566 \| MT-TK \| 1.196 \| DISEASES 4637 \| MYL6 \| 1.429 \| DISEASES 29116 \| MYLIP \| 1.209 \| DISEASES 4649 \| MYO9A \| 1.892 \| DISEASES 4664 \| NAB1 \| 2.309 \| DISEASES 65065 \| NBEAL1 \| 2.19 \| DISEASES 57446 \| NDRG3 \| 2.725 \| DISEASES 65009 \| NDRG4 \| 2.643 \| DISEASES 4734 \| NEDD4 \| 1.497 \| DISEASES 4763 \| NF1 \| 1.011 \| DISEASES 23114 \| NFASC \| 2.398 \| DISEASES 4803 \| NGF \| 1.637 \| DISEASES 3084 \| NRG1 \| 2.382 \| DISEASES 9542 \| NRG2 \| 1.518 \| DISEASES 4908 \| NTF3 \| 3.581 \| DISEASES 4914 \| NTRK1 \| 1.893 \| DISEASES 4916 \| NTRK3 \| 1.399 \| DISEASES 4976 \| OPA1 \| 1.524 \| DISEASES 5027 \| P2RX7 \| 1.878 \| DISEASES 5032 \| P2RY11 \| 1.328 \| DISEASES 5165 \| PDK3 \| 2.919 \| DISEASES 5230 \| PGK1 \| 2.095 \| DISEASES 30849 \| PIK3R4 \| 1.608 \| DISEASES 57449 \| PLEKHG5 \| 2.486 \| DISEASES 11284 \| PNKP \| 1.424 \| DISEASES 5453 \| POU3F1 \| 2.056 \| DISEASES 100169750 \| PRINS \| 2.184 \| DISEASES 5631 \| PRPS1 \| 4.19 \| DISEASES 221823 \| PRPS1L1 \| 2.46 \| DISEASES 57716 \| PRX \| 5.866 \| DISEASES 9444 \| QKI \| 1.126 \| DISEASES 22931 \| RAB18 \| 1.315 \| DISEASES 22930 \| RAB3GAP1 \| 1.114 \| DISEASES 6007 \| RHD \| 1.09 \| DISEASES 55288 \| RHOT1 \| 1.619 \| DISEASES 89941 \| RHOT2 \| 1.874 \| DISEASES 9921 \| RNF10 \| 2.854 \| DISEASES 6133 \| RPL9 \| 2.098 \| DISEASES 6175 \| RPLP0 \| 1.054 \| DISEASES 6261 \| RYR1 \| 1.995 \| DISEASES 22908 \| SACM1L \| 2.503 \| DISEASES 6305 \| SBF1 \| 4.901 \| DISEASES 9672 \| SDC3 \| 1.153 \| DISEASES 9919 \| SEC16A \| 2.095 \| DISEASES 9037 \| SEMA5A \| 1.125 \| DISEASES 8879 \| SGPL1 \| 1.147 \| DISEASES 79628 \| SH3TC2 \| 6.22 \| DISEASES 9990 \| SLC12A6 \| 2.066 \| DISEASES 9962 \| SLC23A2 \| 2.585 \| DISEASES 6606 \| SMN1 \| 1.037 \| DISEASES 6607 \| SMN2 \| 1.117 \| DISEASES 6622 \| SNCA \| 1.133 \| DISEASES 6642 \| SNX1 \| 1.63 \| DISEASES 6643 \| SNX2 \| 2.046 \| DISEASES 6663 \| SOX10 \| 3.859 \| DISEASES 8027 \| STAM \| 2.506 \| DISEASES 23353 \| SUN1 \| 1.645 \| DISEASES 25777 \| SUN2 \| 1.562 \| DISEASES 9779 \| TBC1D5 \| 2.84 \| DISEASES 55775 \| TDP1 \| 1.921 \| DISEASES 7003 \| TEAD1 \| 1.229 \| DISEASES 64518 \| TEKT3 \| 3.562 \| DISEASES 22906 \| TRAK1 \| 1.718 \| DISEASES 66008 \| TRAK2 \| 2.259 \| DISEASES 23321 \| TRIM2 \| 2.863 \| DISEASES 7106 \| TSPAN4 \| 3.543 \| DISEASES 7280 \| TUBB2A \| 1.061 \| DISEASES 10277 \| UBE4B \| 1.355 \| DISEASES 7415 \| VCP \| 1.978 \| DISEASES 51699 \| VPS29 \| 1.711 \| DISEASES 7499 \| XG \| 1.765 \| DISEASES 8565 \| YARS \| 3.954 \| DISEASES 51067 \| YARS2 \| 2.555 \| DISEASES 55906 \| ZC4H2 \| 1.988 \| DISEASES
Locus	(Waiting for update.)

Disease ID	420
Disease	charcot-marie-tooth disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:13) HP:0003470 \| Paralysis HP:0003693 \| Distal amyotrophy HP:0001251 \| Ataxia HP:0001288 \| Gait disturbance HP:0001601 \| Laryngomalacia HP:0001608 \| Abnormality of the voice HP:0002650 \| Scoliosis HP:0003457 \| EMG abnormality HP:0002808 \| Kyphosis HP:0007328 \| Impaired pain sensation HP:0001315 \| Reduced tendon reflexes HP:0000762 \| Decreased nerve conduction velocity HP:0000600 \| Abnormality of the pharynx
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:33) HP:0001760 \| Foot deformities \| 4 HP:0001761 \| Pes cavus \| 2 HP:0000819 \| Diabetes mellitus \| 2 HP:0001337 \| Tremor \| 2 HP:0003690 \| Limb weakness \| 2 HP:0012378 \| Fatigue \| 1 HP:0002650 \| Scoliosis \| 1 HP:0002352 \| Leukoencephalopathy \| 1 HP:0001324 \| Muscular weakness \| 1 HP:0000097 \| focal glomerulosclerosis \| 1 HP:0002527 \| Falls \| 1 HP:0000648 \| Optic-nerve degeneration \| 1 HP:0000501 \| Glaucoma \| 1 HP:0000405 \| Conductive hearing loss \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0001271 \| Polyneuropathy \| 1 HP:0002486 \| Myotonia \| 1 HP:0003198 \| Myopathic changes \| 1 HP:0000407 \| sensorineural hearing loss \| 1 HP:0006721 \| Acute lymphocytic leukemia \| 1 HP:0012074 \| Adie pupil \| 1 HP:0001604 \| Hoarse voice due to vocal cord paresis \| 1 HP:0000316 \| Increased distance between eye sockets \| 1 HP:0001909 \| Leukemia \| 1 HP:0003394 \| Muscle cramps \| 1 HP:0003470 \| Inability to move \| 1 HP:0001369 \| Arthritis \| 1 HP:0009027 \| Foot drop \| 1 HP:0100754 \| Mania \| 1 HP:0030186 \| Essential tremor \| 1 HP:0012817 \| Noncompaction of the ventricular myocardium \| 1 HP:0100653 \| Optic neuritis \| 1 HP:0009830 \| Peripheral neuritis \| 1

Disease ID	420
Disease	charcot-marie-tooth disease
Manually Symptom	UMLS \| Name(Total Manually Symptoms:30) C2364118 \| weakness C1335944 \| sensory manifestations C0744539 \| hand dysfunction C0700361 \| distress C0700208 \| scoliosis C0520679 \| obstructive sleep apnoea C0442874 \| neuropathy C0423716 \| neuropathic pain C0393814 \| tomaculous neuropathy C0158493 \| pes cavovarus C0152025 \| polyneuropathy C0151313 \| sensory neuropathy C0085684 \| foot-drop C0042928 \| vocal cord paralysis C0040997 \| trigeminal neuralgia C0037315 \| sleep apnoeas C0035258 \| restless legs syndrome C0035229 \| respiratory insufficiency C0031117 \| peripheral neuropathy C0030552 \| paresis C0029124 \| optic atrophy C0026846 \| muscle atrophy C0023798 \| lipoma C0022658 \| nephropathy C0022408 \| arthropathy C0022361 \| jaw cysts C0018378 \| acute inflammatory neuropathy C0017668 \| focal glomerulosclerosis C0014550 \| myoclonic seizures C0003881 \| arthrodesis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:6) C0442874 \| neuropathy \| 6 C0004093 \| weakness \| 4 C0158493 \| pes cavovarus \| 1 C0029124 \| optic atrophy \| 1 C0152025 \| polyneuropathy \| 1 C0031117 \| peripheral neuropathy \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:102)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894075	12707075	54332	GDAP1	umls:C0007959	BeFree	Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene.	0.152818179	2003	GDAP1	8	74362940	C	G
rs104894078	NA	54332	GDAP1	umls:C0007959	CLINVAR	NA	0.152818179	NA	GDAP1	8	74360184	C	T
rs104894078	21199105	54332	GDAP1	umls:C0007959	BeFree	Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease.	0.152818179	2010	GDAP1	8	74360184	C	T
rs104894080	17039978	54332	GDAP1	umls:C0007959	BeFree	We report a homozygous Leu239Phe mutation in the GDAP1 gene in a 39-year-old female with a severe form of mixed axonal and demyelinating Charcot-Marie-Tooth disease.	0.152818179	2006	GDAP1	8	74364005	C	T
rs104894080	20232219	54332	GDAP1	umls:C0007959	BeFree	L239F founder mutation in GDAP1 is associated with a mild Charcot-Marie-Tooth type 4C4 (CMT4C4) phenotype.	0.152818179	2010	GDAP1	8	74364005	C	T
rs104894158	19244508	1959	EGR2	umls:C0007959	BeFree	Here, we describe the engineering and characterization of a mouse carrying the I268N mutation in Egr2, observed in patients with recessively inherited Charcot-Marie-Tooth (CMT) disease type 4E, which is predicted to alter the ability of Egr2 to interact with the Nab transcriptional coregulatory proteins.	0.007524428	2009	EGR2	10	62813835	A	T
rs104894159	15947997	2705	GJB1	umls:C0007959	BeFree	Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.	0.203824302	2005	EGR2	10	62813413	G	A
rs104894159	15947997	1959	EGR2	umls:C0007959	BeFree	Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.	0.007524428	2005	EGR2	10	62813413	G	A
rs104894161	15947997	2705	GJB1	umls:C0007959	BeFree	Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.	0.203824302	2005	EGR2	10	62813563	G	A
rs104894161	15947997	1959	EGR2	umls:C0007959	BeFree	Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.	0.007524428	2005	EGR2	10	62813563	G	A
rs104894345	16935933	26353	HSPB8	umls:C0007959	BeFree	Two mutations (K141E, K141N) in the small heat shock protein (sHSP) HSP22 (HSPB8) are associated with the inherited peripheral motor neuron disorders distal hereditary motor neuropathy type II and axonal Charcot-Marie-Tooth disease type 2L.	0.125167327	2006	HSPB8	12	119187080	G	C,T
rs104894345	NA	26353	HSPB8	umls:C0007959	CLINVAR	NA	0.125167327	NA	HSPB8	12	119187080	G	C,T
rs104894351	16935933	26353	HSPB8	umls:C0007959	BeFree	Two mutations (K141E, K141N) in the small heat shock protein (sHSP) HSP22 (HSPB8) are associated with the inherited peripheral motor neuron disorders distal hereditary motor neuropathy type II and axonal Charcot-Marie-Tooth disease type 2L.	0.125167327	2006	HSPB8	12	119187078	A	G
rs104894351	NA	26353	HSPB8	umls:C0007959	CLINVAR	NA	0.125167327	NA	HSPB8	12	119187078	A	G
rs104894617	25385046	821	CANX	umls:C0007959	BeFree	These results suggest that CMT disease-related PMP22(L16P) is trapped in the ER by calnexin-dependent ER retention and Rer1-mediated early Golgi retrieval systems and partly degraded by the Hrd1-mediated ERAD system.	0.000814326	2014	PMP22	17	15260681	A	G
rs104894617	25385046	5376	PMP22	umls:C0007959	BeFree	These results suggest that CMT disease-related PMP22(L16P) is trapped in the ER by calnexin-dependent ER retention and Rer1-mediated early Golgi retrieval systems and partly degraded by the Hrd1-mediated ERAD system.	0.18307166	2014	PMP22	17	15260681	A	G
rs104894617	25385046	84447	SYVN1	umls:C0007959	BeFree	These results suggest that CMT disease-related PMP22(L16P) is trapped in the ER by calnexin-dependent ER retention and Rer1-mediated early Golgi retrieval systems and partly degraded by the Hrd1-mediated ERAD system.	0.000271442	2014	PMP22	17	15260681	A	G
rs104894617	25385046	11079	RER1	umls:C0007959	BeFree	These results suggest that CMT disease-related PMP22(L16P) is trapped in the ER by calnexin-dependent ER retention and Rer1-mediated early Golgi retrieval systems and partly degraded by the Hrd1-mediated ERAD system.	0.000271442	2014	PMP22	17	15260681	A	G
rs104894619	14502374	5376	PMP22	umls:C0007959	BeFree	We describe here a CMT1 family (a 63-year-old man, his brother and his niece) in which two mutations on different chromosomes were found in the PMP22 gene, the 17p duplication, detected by fluorescent semiquantitative polymerase chain reaction (PCR) of microsatellite markers localized within the duplicated region on chromosome 17p11.2-p12, and the Thr(118)Met substitution, detected by direct sequencing the four coding exons of the PMP22 gene.	0.18307166	2003	PMP22	17	15231047	G	A
rs104894619	16437560	5376	PMP22	umls:C0007959	BeFree	Taken together, these findings suggest that T118M is a pathogenic mutation causing a dominantly inherited form of CMT by a partial loss of PMP22 function.	0.18307166	2006	PMP22	17	15231047	G	A
rs104894619	19067730	5376	PMP22	umls:C0007959	BeFree	We report on a 20-year-old male with severe Charcot-Marie-Tooth (CMT) disease and a de novo deletion (c.281delG, p.G94AfsX17) on the paternal PMP22 allele harboring c.353C>T (p.T118M).	0.18307166	2009	PMP22	17	15231047	G	A
rs104894619	21194947	5376	PMP22	umls:C0007959	BeFree	Although PMP22 point mutations are not common, our findings highlight the importance of sequencing the PMP22 gene in patients with variable CMT phenotypes and also confirm that the PMP22 Thr118Met mutation is associated with a neuropathy albeit with reduced penetrance.	0.18307166	2011	PMP22	17	15231047	G	A
rs104894621	19259128	5376	PMP22	umls:C0007959	BeFree	Mutations associated with axonal CMT were less likely to be classified as deleterious, and the PMP22 S72L mutation repeatedly associated with severe CMT was classified as a polymorphism using default parameters.	0.18307166	2009	PMP22	17	15239575	G	A
rs104894621	15625576	5376	PMP22	umls:C0007959	BeFree	De novo Ser72Leu mutation in the peripheral myelin protein 22 in two Polish patients with a severe form of Charcot-Marie-Tooth disease.	0.18307166	2004	PMP22	17	15239575	G	A
rs104894623	11920834	5376	PMP22	umls:C0007959	BeFree	This mutation is predicted to cause an Ala67Pro substitution in the second transmembrane domain of PMP22, consistent with the molecular cause of the CMT phenotype.	0.18307166	2002	PMP22	17	15239591	C	T,G
rs104894706	11157804	57716	PRX	umls:C0007959	BeFree	After characterizing the human PRX gene, we identified a nonsense R196X mutation in the Lebanese family which cosegregated with CMT.	0.009434452	2001	PRX	19	40397766	G	T,A
rs104894822	10071100	2705	GJB1	umls:C0007959	BeFree	Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene.	0.203824302	1999	GJB1	X	71224321	A	G
rs104894824	10220155	2705	GJB1	umls:C0007959	BeFree	Three novel mutations in the gap junction beta 1 (GJB1) gene coding region identified in Charcot-Marie-Tooth patients of Greek origin: T55I, R164Q, V120E. Mutation in brief no 236. Online.	0.203824302	1999	GJB1	X	71223871	C	T
rs104894826	15947997	2705	GJB1	umls:C0007959	BeFree	Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.	0.203824302	2005	GJB1	X	71224114	T	C
rs104894826	15947997	1959	EGR2	umls:C0007959	BeFree	Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.	0.007524428	2005	GJB1	X	71224114	T	C
rs113994097	NA	5428	POLG	umls:C0007959	CLINVAR	NA	0.120271442	NA	POLG	15	89323426	C	G
rs116840818	9633821	2705	GJB1	umls:C0007959	BeFree	One male patient with an early onset CMT had a double Cx32 mutation, Arg22Gln and Val63Ile.	0.203824302	1998	GJB1	X	71223894	G	A
rs119103268	NA	9927	MFN2	umls:C0007959	CLINVAR	NA	0.145112067	NA	MFN2	1	11992689	C	T
rs119103268	21531138	9927	MFN2	umls:C0007959	BeFree	Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot-Marie-Tooth type 2.	0.145112067	2011	MFN2	1	11992689	C	T
rs119483085	22978647	10397	NDRG1	umls:C0007959	BeFree	Four private mutations responsible for three forms demyelinating of Charcot-Marie-Tooth (CMT) or hereditary motor and sensory neuropathy (HMSN) have been associated with the Gypsy population: the NDRG1 p.R148X in CMT type 4D (CMT4D/HMSN-Lom); p.C737_P738delinsX and p.R1109X mutations in the SH3TC2 gene (CMT4C); and a G>C change in a novel alternative untranslated exon in the HK1 gene causative of CMT4G (CMT4G/HMSN-Russe).	0.008815624	2012	NDRG1	8	133258374	G	A
rs119483085	22978647	79628	SH3TC2	umls:C0007959	BeFree	Four private mutations responsible for three forms demyelinating of Charcot-Marie-Tooth (CMT) or hereditary motor and sensory neuropathy (HMSN) have been associated with the Gypsy population: the NDRG1 p.R148X in CMT type 4D (CMT4D/HMSN-Lom); p.C737_P738delinsX and p.R1109X mutations in the SH3TC2 gene (CMT4C); and a G>C change in a novel alternative untranslated exon in the HK1 gene causative of CMT4G (CMT4G/HMSN-Russe).	0.123528744	2012	NDRG1	8	133258374	G	A
rs121908113	18231710	54332	GDAP1	umls:C0007959	BeFree	A novel GDAP1 Q218E mutation in autosomal dominant Charcot-Marie-Tooth disease.	0.152818179	2008	GDAP1	8	74363011	C	G
rs121908160	NA	23095	KIF1B	umls:C0007959	CLINVAR	NA	0.142182289	NA	KIF1B	1	10258602	A	T
rs121909344	NA	1639	DCTN1	umls:C0007959	CLINVAR	NA	0.12	NA	DCTN1	2	74366896	G	A
rs121913595	11080237	4359	MPZ	umls:C0007959	BeFree	An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).	0.303925712	2000	MPZ	1	161306785	G	T,A
rs121913595	12948789	4359	MPZ	umls:C0007959	BeFree	Autonomic and respiratory dysfunction in Charcot-Marie-Tooth disease due to Thr124Met mutation in the myelin protein zero gene.	0.303925712	2003	MPZ	1	161306785	G	T,A
rs121913595	NA	4359	MPZ	umls:C0007959	CLINVAR	NA	0.303925712	NA	MPZ	1	161306785	G	T,A
rs121913595	25720167	4359	MPZ	umls:C0007959	BeFree	A Costa Rican family affected with Charcot-Marie-Tooth disease due to the myelin protein zero (MPZ) p.Thr124Met mutation shares the Belgian haplotype.	0.303925712	2015	MPZ	1	161306785	G	T,A
rs121913595	10071056	4359	MPZ	umls:C0007959	BeFree	The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.	0.303925712	1999	MPZ	1	161306785	G	T,A
rs121913597	11080237	4359	MPZ	umls:C0007959	BeFree	An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).	0.303925712	2000	MPZ	1	161307268	T	A
rs121913597	NA	4359	MPZ	umls:C0007959	CLINVAR	NA	0.303925712	NA	MPZ	1	161307268	T	A
rs121913599	12940837	4359	MPZ	umls:C0007959	BeFree	Focally folded myelin in Charcot-Marie-Tooth type 1B disease is associated with Asn131Lys mutation in myelin protein zero gene: short report.	0.303925712	2003	MPZ	1	161306763	G	T
rs121918052	NA	5428	POLG	umls:C0007959	CLINVAR	NA	0.120271442	NA	POLG;MIR6766	15	89327006	C	T,G
rs137852667	NA	3508	IGHMBP2	umls:C0007959	CLINVAR	NA	0.12	NA	IGHMBP2	11	68935404	G	A
rs142000963	NA	4000	LMNA	umls:C0007959	CLINVAR	NA	0.130172833	NA	LMNA	1	156138719	C	A,T
rs145770066	NA	81857	MED25	umls:C0007959	CLINVAR	NA	0.120271442	NA	MED25;MIR6800	19	49830790	C	T
rs145770066	19290556	81857	MED25	umls:C0007959	BeFree	We identified a homozygous p.A335V mutation in the MED25 gene in an extended Costa Rican family with autosomal recessively inherited Charcot-Marie-Tooth neuropathy linked to the CMT2B2 locus in chromosome 19q13.3.	0.120271442	2009	MED25;MIR6800	19	49830790	C	T
rs199927590	NA	1785	DNM2	umls:C0007959	CLINVAR	NA	0.130877538	NA	DNM2	19	10797424	A	G
rs267606621	NA	16	AARS	umls:C0007959	CLINVAR	NA	0.121085767	NA	AARS	16	70268356	C	T
rs267607143	NA	59341	TRPV4	umls:C0007959	CLINVAR	NA	0.241085767	NA	TRPV4	12	109798823	G	A
rs267607144	NA	59341	TRPV4	umls:C0007959	CLINVAR	NA	0.241085767	NA	TRPV4	12	109800665	C	T
rs267607145	NA	59341	TRPV4	umls:C0007959	CLINVAR	NA	0.241085767	NA	TRPV4	12	109798820	G	A
rs267607146	NA	59341	TRPV4	umls:C0007959	CLINVAR	NA	0.241085767	NA	TRPV4	12	109800666	G	A
rs281865137	10762521	1959	EGR2	umls:C0007959	BeFree	The authors describe a unique combination of cranial nerve deficits in one member of a Charcot-Marie-Tooth 1 family carrying an EGR2 mutation (Arg381His).	0.007524428	2000	EGR2	10	62813496	C	T
rs28928902	NA	4000	LMNA	umls:C0007959	CLINVAR	NA	0.130172833	NA	LMNA	1	156136951	C	G,T
rs28940291	20418531	9927	MFN2	umls:C0007959	BeFree	Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A.	0.145112067	2010	MFN2	1	11992660	G	A
rs29001571	20660910	3315	HSPB1	umls:C0007959	BeFree	Twenty-one members of a five generation Sardinian family have been studied, including thirteen members affected by peroneal muscular atrophy and proved heterozygous for the known HSP27 R127W mutation.	0.133440067	2010	HSPB1	7	76303816	C	T
rs372000714	NA	3508	IGHMBP2	umls:C0007959	CLINVAR	NA	0.12	NA	IGHMBP2	11	68906120	T	A
rs372491511	15947997	1959	EGR2	umls:C0007959	BeFree	Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.	0.007524428	2005	EGR2	10	62814078	G	A
rs372491511	15947997	2705	GJB1	umls:C0007959	BeFree	Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.	0.203824302	2005	EGR2	10	62814078	G	A
rs373698346	NA	23095	KIF1B	umls:C0007959	CLINVAR	NA	0.142182289	NA	KIF1B	1	10275444	A	G
rs387906738	NA	1778	DYNC1H1	umls:C0007959	CLINVAR	NA	0.121900093	NA	DYNC1H1	14	101980506	A	G
rs57318642	NA	4000	LMNA	umls:C0007959	CLINVAR	NA	0.130172833	NA	LMNA	1	156137203	C	T
rs587777712	NA	9639	ARHGEF10	umls:C0007959	CLINVAR	NA	0.120271442	NA	ARHGEF10	8	1882687	G	C
rs587777718	NA	4141	MARS	umls:C0007959	CLINVAR	NA	0.12	NA	MARS;MIR6758	12	57512849	C	T
rs587781246	NA	2705	GJB1	umls:C0007959	CLINVAR	NA	0.203824302	NA	GJB1	X	71224395	C	T
rs587781248	NA	65055	REEP1	umls:C0007959	CLINVAR	NA	0.12	NA	REEP1	2	86217101	T	C
rs587781249	NA	23064	SETX	umls:C0007959	CLINVAR	NA	0.12	NA	SETX	9	132328522	-	TCA
rs587781250	NA	3315	HSPB1	umls:C0007959	CLINVAR	NA	0.133440067	NA	HSPB1	7	76303817	G	T
rs587781253	NA	1778	DYNC1H1	umls:C0007959	CLINVAR	NA	0.121900093	NA	DYNC1H1	14	101985925	G	A
rs58982919	25552649	4747	NEFL	umls:C0007959	BeFree	Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype.	0.133059004	2016	NEFL	8	24956223	T	C
rs59885338	NA	4000	LMNA	umls:C0007959	CLINVAR	NA	0.130172833	NA	LMNA	1	156135268	C	T
rs59885338	14607793	4000	LMNA	umls:C0007959	BeFree	Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.	0.130172833	2004	LMNA	1	156135268	C	T
rs59885338	18549403	4000	LMNA	umls:C0007959	BeFree	Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa.	0.130172833	2008	LMNA	1	156135268	C	T
rs60261494	NA	4747	NEFL	umls:C0007959	CLINVAR	NA	0.133059004	NA	NA	NA	NA	NA	NA
rs60864230	NA	4000	LMNA	umls:C0007959	CLINVAR	NA	0.130172833	NA	LMNA	1	156130658	G	A,C,T
rs62636522	16930284	4747	NEFL	umls:C0007959	BeFree	Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models.	0.133059004	2006	NEFL	8	24955877	G	C
rs690016543	NA	6305	SBF1	umls:C0007959	CLINVAR	NA	0.120542884	NA	SBF1	22	50465006	C	T
rs724159958	NA	3508	IGHMBP2	umls:C0007959	CLINVAR	NA	0.12	NA	IGHMBP2	11	68911496	T	G
rs724159994	NA	3508	IGHMBP2	umls:C0007959	CLINVAR	NA	0.12	NA	IGHMBP2	11	68939660	AG	-
rs730882139	NA	3300	DNAJB2	umls:C0007959	CLINVAR	NA	0.12	NA	DNAJB2	2	219281772	G	A
rs730882140	NA	3300	DNAJB2	umls:C0007959	CLINVAR	NA	0.12	NA	DNAJB2	2	219279847	A	G
rs756880678	NA	90678	LRSAM1	umls:C0007959	CLINVAR	NA	0.121085767	NA	LRSAM1	9	127501009	G	A
rs756985703	NA	3508	IGHMBP2	umls:C0007959	CLINVAR	NA	0.12	NA	IGHMBP2	11	68934517	C	A
rs781249411	NA	4141	MARS	umls:C0007959	CLINVAR	NA	0.12	NA	MARS	12	57515926	C	A
rs786200930	NA	90678	LRSAM1	umls:C0007959	CLINVAR	NA	0.121085767	NA	LRSAM1	9	127502849	-	GC
rs797044801	NA	16	AARS	umls:C0007959	CLINVAR	NA	0.121085767	NA	AARS	16	70254688	T	G
rs797044802	NA	3508	IGHMBP2	umls:C0007959	CLINVAR	NA	0.12	NA	IGHMBP2	11	68908338	G	T
rs797044803	NA	3508	IGHMBP2	umls:C0007959	CLINVAR	NA	0.12	NA	IGHMBP2	11	68938355	G	T
rs80338925	19272779	79628	SH3TC2	umls:C0007959	BeFree	Five families with AR demyelinating CMT and SH3TC2 mutations were identified, four families were homozygous for the R954X mutation and the fifth family was compound heterozygous for the R954X and E657K mutations.	0.123528744	2009	SH3TC2	5	149027763	C	T
rs80338933	NA	79628	SH3TC2	umls:C0007959	CLINVAR	NA	0.123528744	NA	SH3TC2	5	149026872	G	A
rs80338934	22978647	79628	SH3TC2	umls:C0007959	BeFree	Four private mutations responsible for three forms demyelinating of Charcot-Marie-Tooth (CMT) or hereditary motor and sensory neuropathy (HMSN) have been associated with the Gypsy population: the NDRG1 p.R148X in CMT type 4D (CMT4D/HMSN-Lom); p.C737_P738delinsX and p.R1109X mutations in the SH3TC2 gene (CMT4C); and a G>C change in a novel alternative untranslated exon in the HK1 gene causative of CMT4G (CMT4G/HMSN-Russe).	0.123528744	2012	SH3TC2	5	149010272	G	A
rs80338934	17470135	79628	SH3TC2	umls:C0007959	BeFree	The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.	0.123528744	2007	SH3TC2	5	149010272	G	A
rs80338934	22978647	10397	NDRG1	umls:C0007959	BeFree	Four private mutations responsible for three forms demyelinating of Charcot-Marie-Tooth (CMT) or hereditary motor and sensory neuropathy (HMSN) have been associated with the Gypsy population: the NDRG1 p.R148X in CMT type 4D (CMT4D/HMSN-Lom); p.C737_P738delinsX and p.R1109X mutations in the SH3TC2 gene (CMT4C); and a G>C change in a novel alternative untranslated exon in the HK1 gene causative of CMT4G (CMT4G/HMSN-Russe).	0.008815624	2012	SH3TC2	5	149010272	G	A
rs80338957	15642860	4359	MPZ	umls:C0007959	BeFree	A novel missense mutation (Arg67Pro) in the myelin protein zero gene was identified in 2 patients with Charcot-Marie-Tooth disease, and a common missense mutation (Thr704Met) was identified in the SCN4A gene in 4 family members.	0.303925712	2005	SCN4A	17	63957427	G	A
rs80338957	15642860	6329	SCN4A	umls:C0007959	BeFree	A novel missense mutation (Arg67Pro) in the myelin protein zero gene was identified in 2 patients with Charcot-Marie-Tooth disease, and a common missense mutation (Thr704Met) was identified in the SCN4A gene in 4 family members.	0.000271442	2005	SCN4A	17	63957427	G	A
rs80356814	NA	4000	LMNA	umls:C0007959	CLINVAR	NA	0.130172833	NA	LMNA	1	156138697	C	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:4)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001608	Abnormality of the voice	MP:0013283	failure of ventral body wall closure	failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h
HP:0007328	Impaired pain sensation	MP:0001970	abnormal pain threshold	increased or decreased average level of perception of pain
HP:0000762	Decreased nerve conduction velocity	MP:0008814	decreased nerve conduction velocity	decrease in the rate at which an electrical impulse travels through a nerve
HP:0000600	Abnormality of the pharynx	MP:0010732	abnormal node of Ranvier morphology	any structural anomaly of the short unmyelinated segments of an axon between myelinated segments, where voltage gated channels accumulate and regenerate an action potential as it is conducted along the axon

Mapped by homologous gene(Total Items:13)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002650	Scoliosis	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0003457	EMG abnormality	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001601	Laryngomalacia	MP:0014152	absent exorbital lacrimal gland	absence of the large extra-orbital lacrimal gland that, in mice, is normally located subcutaneously at the anteroventral base of the ear adjacent to the parotid gland
HP:0007328	Impaired pain sensation	MP:0014124	increased amylin secretion	greater than normal production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiet
HP:0001608	Abnormality of the voice	MP:0020214	susceptible to malignant hyperthermia	increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0000762	Decreased nerve conduction velocity	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0001288	Gait disturbance	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002808	Kyphosis	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0003470	Paralysis	MP:0013659	abnormal erythroid lineage cell morphology	any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes
HP:0001251	Ataxia	MP:0020301	short tongue	decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor
HP:0001315	Reduced tendon reflexes	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000600	Abnormality of the pharynx	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0003693	Distal amyotrophy	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye

Disease ID	420
Disease	charcot-marie-tooth disease
Case	(Waiting for update.)