Charcot-marie-tooth Neuropathy Type 2 malady

MalaCards: Charcot-marie-tooth Neuropathy Type 2, also known as charcot-marie-tooth disease, axonal type, is related to tooth disease and charcot-marie-tooth disease type 1. An important gene associated with Charcot-marie-tooth Neuropathy Type 2 is GARS (glycyl-tRNA synthetase), and among its related pathways are Hypertrophic cardiomyopathy (HCM) and Amyotrophic lateral sclerosis (ALS). The compounds tocilizumab and abatacept have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related mouse phenotypes are muscle and behavior/neurological.

GeneReviews summary for cmt2

charcot-marie-tooth neuropathy type 2 15 16 charcot-marie-tooth disease, axonal type 15 16 hmsn2 15 16 cmt2 15 16 charcot-marie-tooth disease, neuronal type 16 hereditary motor and sensory neuropathy 2 16 hereditary motor and sensory neuropathies 43

hereditary motorsensory neuropathy 2 15 charcot-marie-tooth disease 43 inherited neuropathy 43 hmsn type ii 43 hmsn ii 32 cmt 2 16

Disease types for charcot-marie-tooth neuropathy family:

charcot-marie-tooth neuropathy type 1	charcot-marie-tooth neuropathy type 2
charcot-marie-tooth neuropathy type 2a	charcot-marie-tooth neuropathy type 2e/1f
charcot-marie-tooth neuropathy type 4	charcot-marie-tooth neuropathy type 4a
charcot-marie-tooth neuropathy type 4c	charcot-marie-tooth neuropathy x type 1
charcot-marie-tooth neuropathy x type 5	charcot-marie-tooth neuropathy type 1a
charcot-marie-tooth neuropathy type 1b	charcot-marie-tooth neuropathy type 1c
charcot-marie-tooth neuropathy type 1d	charcot-marie-tooth neuropathy type 1e
charcot-marie-tooth neuropathy type 2a1	charcot-marie-tooth neuropathy type 2a2
charcot-marie-tooth neuropathy type 2b	charcot-marie-tooth neuropathy type 2b1
charcot-marie-tooth neuropathy type 2b2	charcot-marie-tooth neuropathy type 2c
charcot-marie-tooth neuropathy type 2d	charcot-marie-tooth neuropathy type 2g
charcot-marie-tooth neuropathy type 2h/2k	charcot-marie-tooth neuropathy type 2i/2j
charcot-marie-tooth neuropathy type 2l	charcot-marie-tooth neuropathy type 2n
charcot-marie-tooth neuropathy type 2o	charcot-marie-tooth neuropathy type 2p
charcot-marie-tooth neuropathy type 4b1	charcot-marie-tooth neuropathy type 4b2
charcot-marie-tooth neuropathy type 4d	charcot-marie-tooth neuropathy type 4e
charcot-marie-tooth neuropathy type 4f	charcot-marie-tooth neuropathy type 4h
charcot-marie-tooth neuropathy type 4j	charcot-marie-tooth neuropathy x
charcot-marie-tooth neuropathy x type 2	charcot-marie-tooth neuropathy x type 3
charcot-marie-tooth neuropathy x type 4

Diseases related to charcot-marie-tooth neuropathy type 2 by text searches and GeneDecks gene sharing:

(show top 50)    (show all 243)

id	Related Disease	Score	Top Affiliating Genes
1	tooth disease	42.2	GJB1, MPZ
2	charcot-marie-tooth disease type 1	38.8	NEFL, GJB1, MPZ
3	charcot-marie-tooth neuropathy type 1	36.7	NEFL, GJB1, MPZ
4	charcot-marie-tooth disease	36.3	GDAP1, GARS, KIF1B, LMNA, RAB7A, MPZ
5	charcot-marie-tooth disease type 2a	35.7	KIF1B, MFN2
6	charcot-marie-tooth neuropathy type 2a	35.4	TOMM40, TNF, IL6, MFN2, KIF1B
7	hereditary neuropathy with liability to pressure palsies	34.1	GJB1, MPZ
8	hereditary neuropathy with liability to pressure palsy	34.1	GJB1, MPZ
9	hereditary neuropathies	34.0	LMNA, MPZ, GJB1
10	charcot-marie-tooth disease type 3	33.1	GJB1, MPZ
11	foot drop	32.5	MPZ, TNF
12	charcot-marie-tooth disease type 2	31.6	LMNA, RAB7A, MPZ, MFN2, HSPB1, HSPB8
13	neuropathy	30.7	KIF1B, GDAP1, GARS, LMNA, RAB7A, MPZ
14	charcot-marie-tooth neuropathy	30.7	GDAP1, GARS, NEFL, TOMM40, KIF1B, LMNA
15	spinal muscular atrophy	30.4	GARS, HSPB8, LMNA
16	paralysis	30.1	GDAP1, NEFL, GJB1, HSPB1, MPZ
17	distal hereditary motor neuropathy	29.8	GARS, NEFL, HSPB8, HSPB1
18	glaucoma	29.5	TNF, HSPB1, IL6, MFN2
19	amyotrophic lateral sclerosis	29.2	NEFL, TOMM40, TNF, HSPB8, HSPB1
20	lateral sclerosis	29.2	NEFL, TOMM40, TNF, HSPB8, HSPB1
21	polyneuropathy	29.2	TNF, GJB1, IL6, MFN2, MPZ, KIF1B
22	laryngitis	29.0	NEFL, TNF, HSPB1, IL6, MPZ
23	peripheral neuropathy	28.9	GJB1, TNF, NEFL, GDAP1, HSPB8, IL6
24	muscular atrophy	28.7	LMNA, MPZ, HSPB1, HSPB8, GARS
25	multiple sclerosis	28.5	NEFL, TNF, HSPB1, IL6, MPZ, KIF1B
26	inherited peripheral neuropathy	28.2	GJB1, HSPB8, MPZ
27	neuronitis	26.4	GDAP1, GARS, NEFL, TNF, GJB1, HSPB8
28	myopathy	26.1	GDAP1, GARS, TNF, GJB1, HSPB8, HSPB1
29	neurodegeneration	25.1	MFN2, HSPB1, TNF, NEFL, GARS
30	cervical incompetence	13.4	MFN2, IL6
31	fissured tongue	13.3	TNF, IL6
32	spermatocele	13.3	TNF, IL6
33	cold agglutinin disease	13.3	TNF, IL6
34	chronic progressive multiple sclerosis	13.3	NEFL, TNF
35	bagassosis	13.3	TNF, IL6
36	monoclonal gammopathy of uncertain significance	13.3	IL6, TNF
37	mycobacterium avium complex disease	13.3	TNF, IL6
38	psoriatic arthritis	13.3	TNF, IL6
39	glossitis	13.2	TNF, IL6
40	nephropathia epidemica	13.2	IL6, TNF
41	eales disease	13.2	TNF, IL6
42	t-cell large granular lymphocyte leukemia	13.2	TNF, IL6
43	skin conditions	13.2	TNF, IL6
44	lymphatic system disease	13.2	TNF, IL6
45	perinatal necrotizing enterocolitis	13.2	TNF, IL6
46	spastic paraplegia 17	13.2	HSPB8, GARS
47	hereditary cerebral hemorrhage with amyloidosis	13.2	IL6, HSPB8
48	post-transplant lymphoproliferative disease	13.2	IL6, TNF
49	burning mouth syndrome	13.2	TNF, IL6
50	joint disorders	13.1	TNF, IL6

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to charcot-marie-tooth neuropathy type 2:

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MGI Mouse Phenotypes related to charcot-marie-tooth neuropathy type 2:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle phenotype	MP:0005369	8.1	KIF1B, LMNA, HSPB8, TNF, IL6, GARS
2	behavior/neurological phenotype	MP:0005386	7.4	GJB1, IL6, KIF1B, LMNA, MPZ, TNF
3	nervous system phenotype	MP:0003631	7.2	KIF1B, GARS, NEFL, TNF, GJB1, IL6
4	mortality/aging	MP:0010768	7.1	GARS, KIF1B, LMNA, MPZ, MFN2, IL6

Articles related to charcot-marie-tooth neuropathy type 2:

id	Title	Authors	Year	Affiliating Genes
1	Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A. (20418531)	Cartoni R.... Martinou J.C.	2010	MFN2, TOMM40
2	Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2. (17309650)	Cho H.J.... Ki C.S.	2007	MFN2
3	Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2). (16762064)	Engelfried K.... Meins M.	2006	MFN2
4	Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A. (15549395)	Kijima K.... Hayasaka K.	2005	MFN2, KIF1B
5	Expression of Mfn2, the Charcot-Marie-Tooth neuropathy type 2A gene, in human skeletal muscle: effects of type 2 diabetes, obesity, weight loss, and the regulatory role of tumor necrosis factor alpha and interleukin-6. (16123358)	Bach D.... Zorzano A.	2005	TNF, IL6, MFN2
6	Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot- Marie-Tooth neuropathy type 2A. (15064763)	Zuechner S.... Vance J.M.	2004	MFN2
7	Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible 'hotspot' on Thr124Met. (10764043)	Senderek J.... Schroder J.M.	2000	MPZ
8	Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13. (8628473)	Timmerman V.... Van Broeckhoven C.	1996	GJB1

Genes related to charcot-marie-tooth neuropathy type 2 according to GeneCards:

(show all 14)

id	Symbol	Description	Score	GeneCards Section Context
1	GARS	glycyl-tRNA synthetase	11.1
2	MFN2	mitofusin 2	11.1	Publications
3	TOMM40	translocase of outer mitochondrial membrane 40 homolog (yeast)	11.1	Publications
4	NEFL	neurofilament, light polypeptide	11.1
5	KIF1B	kinesin family member 1B	11.1	Publications
6	IL6	interleukin 6 (interferon, beta 2)	11.1	Publications
7	TNF	tumor necrosis factor	11.1	Publications
8	HSPB8	heat shock 22kDa protein 8	11.1
9	GDAP1	ganglioside induced differentiation associated protein 1	11.1
10	MPZ	myelin protein zero	11.1	Publications
11	GJB1	gap junction protein, beta 1, 32kDa	11.1	Publications
12	RAB7A	RAB7A, member RAS oncogene family	11.1
13	HSPB1	heat shock 27kDa protein 1	11.1
14	LMNA	lamin A/C	11.1

Pathways related to charcot-marie-tooth neuropathy type 2 according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Hypertrophic cardiomyopathy (HCM)20	9.3	TNF, LMNA, IL6
2	Amyotrophic lateral sclerosis (ALS)20	9.3	TOMM40, TNF, NEFL
3	Amoebiasis20	8.3	RAB7A, IL6, HSPB1, TNF

Compounds related to charcot-marie-tooth neuropathy type 2 according to GeneDecks:

(show all 21)

id	Compound	Score	Top Affiliating Genes
1	tocilizumab32	10.1	IL6, TNF
2	abatacept32 9 9	12.1	TNF, IL6
3	cdp57132	10.1	IL6, TNF
4	anakinra32 9 9	12.0	TNF, IL6
5	tenidap42 32	11.0	TNF, IL6
6	taurine chloramine32	10.0	IL6, TNF
7	vesnarinone32	9.9	TNF, IL6
8	gabexate mesilate32	9.8	IL6, TNF
9	ulinastatin32	9.7	IL6, TNF
10	mip 1alpha32	9.5	TNF, IL6
11	n-tosyl-l-phenylalanine chloromethyl ketone32	9.5	HSPB1, TNF
12	tpck32	9.3	IL6, HSPB1, TNF
13	rosiglitazone32 9 18 9	12.3	IL6, TNF, LMNA
14	anisomycin32 42 9 9	12.2	HSPB1, TNF, IL6
15	sp 60012532 42	10.1	IL6, HSPB1, TNF
16	curcumin32	8.9	TNF, MPZ, IL6, HSPB1
17	cholesterol32 9 18 9	11.5	TOMM40, LMNA, IL6, MPZ, RAB7A
18	creatinine32	8.4	NEFL, HSPB1, IL6, MPZ, LMNA
19	atp32	8.1	LMNA, HSPB1, GARS, NEFL, TOMM40, GJB1
20	retinoic acid32 42 18	9.9	TNF, GJB1, HSPB1, IL6, LMNA, NEFL
21	lipid32	7.4	TOMM40, RAB7A, MPZ, IL6, HSPB1, TNF

Cellular components related to charcot-marie-tooth neuropathy type 2 according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	integral to mitochondrial outer membrane	GO:031307	9.8	TOMM40, GDAP1

Biological processes related to charcot-marie-tooth neuropathy type 2 according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of chemokine production	GO:032722	9.8	IL6, TNF
2	negative regulation of lipid storage	GO:010888	9.7	IL6, TNF
3	protein targeting to mitochondrion	GO:006626	9.5	MFN2, TOMM40, GDAP1
4	regulation of I-kappaB kinase/NF-kappaB cascade	GO:043122	9.0	HSPB1, TNF