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	charcot-marie-tooth disease type 1a

Disease ID	444
Disease	charcot-marie-tooth disease type 1a
Definition	Charcot-Marie-Tooth disease caused by mutations in the PMP22 gene (mapped to chromosome 17), resulting in peripheral nerve demyelination.
Synonym	charcot marie tooth disease, type 1a charcot marie tooth disease, type ia charcot marie tooth neuropathy, type 1a charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1a charcot-marie-tooth disease, demyelinating, type 1a charcot-marie-tooth disease, type 1a charcot-marie-tooth disease, type ia charcot-marie-tooth disease, type ia (disorder) charcot-marie-tooth neuropathy, type 1a cmt1a hereditary motor and sensory neuropathy 1a hereditary motor and sensory neuropathy ia hmsn 1a hmsn ia hmsn1a
Orphanet	ORPHANET:101081
OMIM	OMIM:118220
UMLS	C0270911
SNOMED-CT	SNOMEDCT_US_2016_09_01:40632002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:10) C0442874 \| neuropathy \| 5 C0011849 \| diabetes mellitus \| 1 C0235025 \| motor neuropathy \| 1 C0598589 \| hereditary neuropathy \| 1 C0011847 \| diabetes \| 1 C0027127 \| myotonia congenita \| 1 C0027813 \| neuritis \| 1 C0022408 \| arthropathy \| 1 C0270922 \| demyelinating neuropathy \| 1 C0029134 \| optic neuritis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 5376 \| PMP22 \| CLINVAR;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 5376 \| PMP22 \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:53) 27 \| ABL2 \| 1.82 \| DISEASES 60 \| ACTB \| 1.012 \| DISEASES 55811 \| ADCY10 \| 3.684 \| DISEASES 55256 \| ADI1 \| 1.642 \| DISEASES 9639 \| ARHGEF10 \| 3.779 \| DISEASES 374286 \| CDRT1 \| 3.874 \| DISEASES 146822 \| CDRT15 \| 4.329 \| DISEASES 51142 \| CHCHD2 \| 2.422 \| DISEASES 1270 \| CNTF \| 3.017 \| DISEASES 84701 \| COX4I2 \| 2.116 \| DISEASES 9547 \| CXCL14 \| 1.262 \| DISEASES 1639 \| DCTN1 \| 1.685 \| DISEASES 5167 \| ENPP1 \| 1.059 \| DISEASES 2314 \| FLII \| 1.473 \| DISEASES 2617 \| GARS \| 1.741 \| DISEASES 2705 \| GJB1 \| 6.678 \| DISEASES 2969 \| GTF2I \| 1.885 \| DISEASES 84163 \| GTF2IRD2 \| 3.281 \| DISEASES 9953 \| HS3ST3B1 \| 2.961 \| DISEASES 81033 \| KCNH6 \| 2.426 \| DISEASES 3831 \| KLC1 \| 1.825 \| DISEASES 100506195 \| LARGE-AS1 \| 2.719 \| DISEASES 9516 \| LITAF \| 4.043 \| DISEASES 114659 \| LRRC37B \| 3.478 \| DISEASES 4099 \| MAG \| 2.199 \| DISEASES 4155 \| MBP \| 1.637 \| DISEASES 81857 \| MED25 \| 2.902 \| DISEASES 4359 \| MPZ \| 6.405 \| DISEASES 8898 \| MTMR2 \| 4.451 \| DISEASES 4624 \| MYH6 \| 1.002 \| DISEASES 4763 \| NF1 \| 1.133 \| DISEASES 23114 \| NFASC \| 1.775 \| DISEASES 3084 \| NRG1 \| 2.51 \| DISEASES 4908 \| NTF3 \| 4.274 \| DISEASES 4916 \| NTRK3 \| 1.734 \| DISEASES 5027 \| P2RX7 \| 2.773 \| DISEASES 5032 \| P2RY11 \| 2.222 \| DISEASES 5241 \| PGR \| 1.122 \| DISEASES 5453 \| POU3F1 \| 2.95 \| DISEASES 100169750 \| PRINS \| 2.121 \| DISEASES 57716 \| PRX \| 2.239 \| DISEASES 9444 \| QKI \| 2.021 \| DISEASES 6007 \| RHD \| 1.985 \| DISEASES 6133 \| RPL9 \| 2.993 \| DISEASES 79628 \| SH3TC2 \| 3.639 \| DISEASES 9962 \| SLC23A2 \| 2.92 \| DISEASES 6663 \| SOX10 \| 2.969 \| DISEASES 27286 \| SRPX2 \| 1.25 \| DISEASES 25870 \| SUMF2 \| 1.096 \| DISEASES 7003 \| TEAD1 \| 2.124 \| DISEASES 64518 \| TEKT3 \| 4.457 \| DISEASES 7106 \| TSPAN4 \| 3.48 \| DISEASES 10277 \| UBE4B \| 2.249 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) PMP22 \| 17p12

Disease ID	444
Disease	charcot-marie-tooth disease type 1a
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:10) HP:0001761 \| Pes cavus \| 2 HP:0100653 \| Optic neuritis \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0007141 \| Mixed polyneuropathy \| 1 HP:0002486 \| Myotonia \| 1 HP:0003040 \| Arthropathy \| 1 HP:0001337 \| Tremor \| 1 HP:0009830 \| Peripheral neuritis \| 1 HP:0012378 \| Fatigue \| 1 HP:0001760 \| Foot deformities \| 1

Disease ID	444
Disease	charcot-marie-tooth disease type 1a
Manually Symptom	UMLS \| Name(Total Manually Symptoms:3) C2364051 \| fatigue C2168169 \| leg muscle atrophy C0442874 \| neuropathy
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:1) C0442874 \| neuropathy \| 3

Manually Genotype(Total Manually Genotypes:2)
Gene	Mutation	DOI	Article Title
PMP22	p.T118M	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population
PMP22	p.T118M*	doi:10.1038/gim.2015.123	Expanded genetic screening panel for the Ashkenazi Jewish population

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

All Snps(Total Genotypes:9)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104894617	NA	5376	PMP22	umls:C0270911	CLINVAR	NA	0.461292018	NA	PMP22	17	15260681	A	G
rs104894618	NA	5376	PMP22	umls:C0270911	CLINVAR	NA	0.461292018	NA	PMP22	17	15239554	G	C
rs104894619	10737979	5376	PMP22	umls:C0270911	UNIPROT	The most common mutations are the 1.5 Mb CMT1A tandem duplication on chromosome 17p11.2-p12 in CMT1 patients and the reciprocal 1.5 Mb deletion in HNPP patients.	0.461292018	2000	PMP22	17	15231047	G	A
rs104894619	NA	5376	PMP22	umls:C0270911	CLINVAR	NA	0.461292018	NA	PMP22	17	15231047	G	A
rs104894619	14502374	5376	PMP22	umls:C0270911	BeFree	Thr(118)Met amino acid substitution in the peripheral myelin protein 22 does not influence the clinical phenotype of Charcot-Marie-Tooth disease type 1A due to the 17p11.2-p12 duplication.	0.461292018	2003	PMP22	17	15231047	G	A
rs104894625	NA	5376	PMP22	umls:C0270911	CLINVAR	NA	0.461292018	NA	PMP22	17	15260663	G	A
rs4280262	25342198	9516	LITAF	umls:C0270911	BeFree	Overall, this study shows that the I92V LITAF sequence variant would be a good candidate for a biomarker in the case of the CMT1A/HNPP disorders.	0.000271442	2014	LITAF	16	11553636	T	C
rs786205112	NA	5376	PMP22	umls:C0270911	CLINVAR	NA	0.461292018	NA	PMP22	17	15239509	C	-
rs80338763	NA	5376	PMP22	umls:C0270911	CLINVAR	NA	0.461292018	NA	PMP22	17	15239508	-	C

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

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

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	444
Disease	charcot-marie-tooth disease type 1a
Case	(Waiting for update.)

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