Charcot-marie-tooth Disease Type 2 malady

MalaCards: Charcot-marie-tooth Disease Type 2, also known as charcot-marie-tooth disease, type 2, is related to tooth disease and charcot-marie-tooth disease type 1. An important gene associated with Charcot-marie-tooth Disease Type 2 is MFN2 (mitofusin 2), and among its related pathways are Gene Expression and Cytoskeletal Signaling. The compounds anticodon and alanine have been mentioned in the context of this disorder. Affiliated tissues include b cells, and related mouse phenotypes are muscle and behavior/neurological.

Aliases & Descriptions:

charcot-marie-tooth disease type 2 6 charcot-marie-tooth disease, type 2 44

charcot-marie-tooth disease 43 ar-cmt2 44

Disease types for charcot-marie-tooth disease family:

charcot-marie-tooth disease type 2	charcot-marie-tooth disease type 1
charcot-marie-tooth disease type 4	charcot-marie-tooth disease type 3
charcot-marie-tooth disease type x	charcot-marie-tooth disease type 1a
charcot-marie-tooth disease type 1b	charcot-marie-tooth disease type 1c
charcot-marie-tooth disease type 1d	charcot-marie-tooth disease type 1e
charcot-marie-tooth disease type 1f	charcot-marie-tooth disease type 2a
charcot-marie-tooth disease type 2b	charcot-marie-tooth disease type 2b1
charcot-marie-tooth disease type 2b2	charcot-marie-tooth disease type 2c
charcot-marie-tooth disease type 2d	charcot-marie-tooth disease type 2e
charcot-marie-tooth disease type 2f	charcot-marie-tooth disease type 2g
charcot-marie-tooth disease type 2h	charcot-marie-tooth disease type 2i
charcot-marie-tooth disease type 2j	charcot-marie-tooth disease type 2k
charcot-marie-tooth disease type 4b1	charcot-marie-tooth disease type 4b2
charcot-marie-tooth disease type 4e	charcot-marie-tooth disease, type 2a1
charcot-marie-tooth disease, type 2a2	charcot-marie-tooth disease, type 4f

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

(show top 50)    (show all 152)

id	Related Disease	Score	Top Affiliating Genes
1	tooth disease	40.5	GJB1, MPZ
2	charcot-marie-tooth disease type 1	39.5	MPZ, NEFL, GJB1
3	charcot-marie-tooth disease type 2a	35.1	KIF1B, MFN2, DVL1
4	charcot-marie-tooth disease type 2b	34.6	RAB7A, CMT2B
5	hereditary neuropathy with liability to pressure palsy	34.1	GJB1, MPZ
6	hereditary neuropathy with liability to pressure palsies	34.1	MPZ, GJB1
7	hereditary neuropathies	33.9	MPZ, LMNA, GJB1
8	charcot-marie-tooth disease type 3	32.8	MPZ, GJB1
9	charcot-marie-tooth neuropathy type 2a	31.6	KIF1B, MFN2
10	charcot-marie-tooth neuropathy type 1	31.3	MPZ, GJB1, NEFL
11	charcot-marie-tooth disease	31.0	HSPB8, GJB1, TRPV4, DYNC1H1, LRSAM1, DVL1
12	paralysis	30.9	TRPV4, NEFL, GJB1, HSPB1, MPZ, GDAP1
13	spinal muscular atrophy	30.8	LMNA, HSPB8, GARS, TRPV4
14	charcot-marie-tooth neuropathy type 2	30.5	GJB1, HSPB8, HSPB1, MFN2, MPZ, RAB7A
15	polyneuropathy	30.5	GJB1, MFN2, MPZ, KIF1B
16	muscular atrophy	30.3	HSPB1, MPZ, LMNA, HSPB8, TRPV4, GARS
17	distal hereditary motor neuropathy	30.2	GZMH, GARS, HSPB8, NEFL, HSPB1
18	amyotrophic lateral sclerosis	28.8	DYNC1H1, NEFL, HSPB8, NEFM, HSPB1
19	peripheral neuropathy	28.0	KIF1B, GDAP1, DNM2, TRPV4, GJB1, NEFL
20	neuropathy	27.8	MPZ, MFN2, MED25, HSPB1, HSPB8, GJB1
21	myopathy	26.1	HSPB8, TRPV4, MPZ, HSPB1, GDAP1, GARS
22	charcot-marie-tooth neuropathy	26.1	GDAP1, GARS, NEFL, DNM2, TRPV4, GJB1
23	neuronitis	24.0	DVL1, TRPV4, GJB1, HSPB8, HSPB1, MPZ
24	motor neuritis	13.2	KIF1B, TRPV4
25	congenital generalized lipodystrophy	13.0	GZMH, LMNA
26	slowed nerve conduction velocity	13.0	MPZ, GJB1
27	charcot-marie-tooth disease type 1a	12.9
28	wallerian degeneration	12.8	NEFM, MPZ
29	spastic paraplegia 17	12.8	GARS, HSPB8
30	inherited peripheral neuropathy	12.8	GJB1, MPZ, HSPB8
31	pick's disease	12.7	NEFL, NEFM, MPZ
32	sensory peripheral neuropathy	12.6	GJB1, GDAP1, MFN2, MPZ
33	central pontine myelinolysis	12.5	GDAP1, GJB1, NEFL, MPZ
34	amyotrophic lateral sclerosis (als)	12.5	NEFL, NEFM, HSPB8
35	hereditary ataxia	12.4	GJB1, MPZ
36	ptosis	12.1	DNM2, GJB1, HSPB1
37	neurodegeneration	11.6	MFN2, GARS, DYNC1H1, NEFL, NEFM, HSPB1
38	charcot-marie-tooth disease type 4	11.6
39	charcot-marie-tooth disease type 1b	11.4
40	alzheimer's disease	10.7	GARS, NEFL, NEFM, DNM2, HSPB1, RAB7A
41	charcot-marie-tooth disease type 2e	10.7
42	charcot-marie-tooth neuropathy type 4c	10.3
43	charcot-marie-tooth disease type 4b1	10.3
44	charcot-marie-tooth neuropathy type 4a	10.3
45	charcot-marie-tooth disease type 1c	10.1
46	charcot-marie-tooth disease type 1d	10.1
47	charcot-marie-tooth disease type 2c	10.1
48	charcot-marie-tooth disease type 2d	10.1
49	charcot-marie-tooth disease type 2j	10.1
50	charcot-marie-tooth disease type 4b2	10.1

Approved drugs:

Drug clinical trials:

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

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

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle phenotype	MP:0005369	7.6	DNM2, DYNC1H1, TRPV4, HSPB8, LMNA, KIF1B
2	behavior/neurological phenotype	MP:0005386	6.0	DVL1, NEFM, AARS, GARS, DYNC1H1, TRPV4
3	nervous system phenotype	MP:0003631	6.0	KIF1B, GARS, AARS, NEFM, NEFL, DVL1

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

(show all 21)

id	Title	Authors	Year	Affiliating Genes
1	A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). (22009580)	McLaughlin H.M.... Antonellis A.	2012	AARS
2	The effect of HSPB8 gene mutation on cell viability in Charcot-Marie-Tooth disease type 2L]. (21983727)	Li S.J.... Pan Q.	2011	HSPB8
3	The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. (22206013)	Lin K.P.... Lee Y.C.	2011	HSPB1, NEFL, AARS
4	Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C. (20037586)	LandourAc G.... Sumner C.J.	2010	TRPV4
5	Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A. (19427854)	Cartoni R.... Martinou J.C.	2009	MFN2
6	Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation. (18560793)	Gallardo E.... Berciano J.	2008	DNM2
7	Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. (17052987)	Fabrizi G.M.... Rizzuto N.	2007	NEFL
8	Phenotype of Charcot-Marie-Tooth disease Type 2. (17502546)	Bienfait H.M.... de Visser M.	2007	NEFL, MFN2, GJB1
9	A novel out-of-frame mutation in the neurofilament light chain gene (NEFL) does not result in Charcot-Marie-Tooth disease type 2E. (15654615)	Andrigo C.... Pegoraro E.	2005	NEFL
10	Clinical, pathological and genetic studies in a Chinese Charcot-Marie-Tooth disease type 2 family (16331815)	Luo W.... Yang Q.D.	2005	NEFL
11	Small heat-shock protein 22 mutated in autosomal dominant Charcot- Marie-Tooth disease type 2L. (15565283)	Tang B.-S.... Dai H.-P.	2005	HSPB8
12	A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24. (15021985)	Tang B.S.... Evgrafov O.V.	2004	HSPB8
13	Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E. (15111691)	Fabrizi G.M.... Rizzuto N.	2004	NEFL
14	Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. (12690580)	Antonellis A.... Green E.D.	2003	GARS
15	Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1B-beta. (11389829)	Zhao C.... Hirokawa N.	2001	KIF1B
16	Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. (11220745)	De Jonghe P.... Timmerman V.	2001	NEFL
17	A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21. (11528513)	Ismailov S.M.... Evgrafov O.V.	2001	HSPB1
18	A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. (10841809)	Mersiyanova I.V.... Evgrafov O.V.	2000	NEFL, NEFM
19	Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. (9595994)	Marrosu M.G.... Muntoni F.	1998	MPZ
20	Linkage mapping of the gene for Charcot-Marie-Tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A. (9409358)	Saito M.... Tsuji S.	1997	KIF1B
21	Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. (8406488)	Ben Othmane K.... Pericak-Vance M.A.	1993	KIF1B

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

(show all 20)

id	Symbol	Description	Score	GeneCards Section Context
1	MFN2	mitofusin 2	11.1	Summaries, Publications
2	KIF1B	kinesin family member 1B	11.1	Summaries, Publications
3	MED25	mediator complex subunit 25	11.1	Summaries
4	DVL1	dishevelled, dsh homolog 1 (Drosophila)	11.1	Summaries
5	HSPB1	heat shock 27kDa protein 1	11.1	Summaries, Publications
6	MPZ	myelin protein zero	11.1	Publications
7	CMT2B	Charcot-Marie-Tooth neuropathy 2B	11.1
8	NEFL	neurofilament, light polypeptide	11.1	Publications
9	GARS	glycyl-tRNA synthetase	11.1	Publications
10	RAB7A	RAB7A, member RAS oncogene family	11.1
11	LMNA	lamin A/C	11.1
12	GDAP1	ganglioside induced differentiation associated protein 1	11.1	Publications
13	TRPV4	transient receptor potential cation channel, subfamily V, member 4	11.1	Publications
14	HSPB8	heat shock 22kDa protein 8	11.1	Publications
15	GZMH	granzyme H (cathepsin G-like 2, protein h-CCPX)	11.1
16	AARS	alanyl-tRNA synthetase	11.1	Publications
17	NEFM	neurofilament, medium polypeptide	11.1	Publications
18	GJB1	gap junction protein, beta 1, 32kDa	11.1	Publications
19	DYNC1H1	dynein, cytoplasmic 1, heavy chain 1	11.1
20	DNM2	dynamin 2	11.1	Publications

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

id	Pathway	Score	Top Affiliating Genes
1	Gene Expression38	9.3	MED25, HSPB1, AARS, GARS
2	Cytoskeletal Signaling3	8.8	LMNA, RAB7A, DNM2, NEFL

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

id	Compound	Score	Top Affiliating Genes
1	anticodon32	9.8	AARS, GARS
2	alanine32	8.1	GARS, AARS, NEFM, TRPV4, HSPB1, LMNA
3	atp32	7.5	LMNA, GARS, AARS, NEFL, DYNC1H1, GJB1
4	serine32	7.3	GARS, AARS, NEFM, GJB1, HSPB1, GZMH

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

id	Name	GO ID	Score	Top Affiliating Genes
1	neurofilament	GO:005883	9.7	NEFL, NEFM

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

id	Name	GO ID	Score	Top Affiliating Genes
1	antigen processing and presentation of exogenous peptide antigen via MHC class II	GO:019886	8.8	RAB7A, DYNC1H1, DNM2
2	cell death	GO:008219	8.1	HSPB1, HSPB8, TRPV4, DYNC1H1, GARS

Molecular functions related to charcot-marie-tooth disease type 2 according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	protein kinase binding	GO:019901	9.2	HSPB1, TRPV4, DVL1, DNM2