Distal Hereditary Motor Neuropathy malady

Wikipedia: Distal hereditary motor neuropathies (distal HMN, dHMN) are a genetically and clinically heterogeneous...⁴⁴ more...

MalaCards: Distal Hereditary Motor Neuropathy, also known as inherited neuropathy, is related to distal hereditary motor neuropathy type v and distal hereditary motor neuropathy, type ii. An important gene associated with Distal Hereditary Motor Neuropathy is HSPB1 (heat shock 27kDa protein 1), and among its related pathways are wtCFTR and deltaF508 traffic / Membrane expression (norm and CF) and Cytoskeleton remodeling Keratin filaments. The compounds pironetin and 2-MERCAPTO-N-[1,2,3,10-TETRAMETHOXY-9-OXO-5,6,7,9-TETRAHYDRO-BENZO[A]HEPTALEN-7-YL]ACETAMIDE have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, and related mouse phenotype nervous system.

Aliases & Descriptions:

distal hereditary motor neuropathy 6 8 inherited neuropathy 43

Disease types for distal hereditary motor neuropathy family:

distal hereditary motor neuropathy type v	distal hereditary motor neuropathy, type ii

Diseases related to distal hereditary motor neuropathy by text searches and GeneDecks gene sharing:

(show all 50)

id	Related Disease	Score	Top Affiliating Genes
1	distal hereditary motor neuropathy type v	36.3	BSCL2, GARS
2	distal hereditary motor neuropathy, type ii	34.3	HCAR3, DDX23, TUBB, TUBA1C, TUBA1B, TUBA1A
3	neuropathy	29.7	TUBB, TUBA1C, TUBA1B, TUBA1A, HMNJ, HSPB8
4	tooth disease	28.6	GARS, NEFL, HIP1, PTPN12, HSPB8, HSPB1
5	charcot-marie-tooth disease	28.6	GARS, NEFL, HIP1, PTPN12, HSPB8, HSPB1
6	charcot-marie-tooth neuropathy type 2	28.1	GARS, NEFL, HSPB8, HSPB1
7	spastic paraplegia 17	13.4	GARS, HSPB8, BSCL2
8	pachygyria	13.4	TUBA1A, TUBA1B
9	charcot-marie-tooth neuropathy	13.2	HSPB1, HSPB8, NEFL, GARS
10	familial partial lipodystrophy	13.2	AGPAT2, BSCL2
11	cerebral amyloid angiopathy	13.2	HSPB8, TUBA1B, TUBB
12	congenital generalized lipodystrophy	13.1	BSCL2, AGPAT2
13	charcot-marie-tooth disease type 2	13.1	GARS, NEFL, HSPB8, HSPB1, GZMH
14	spinal muscular atrophy	13.0	GARS, HSPB8, ATP7A, BSCL2
15	mandibuloacral dysplasia	13.0	AGPAT2, BSCL2
16	ataxia with isolated vitamin e deficiency	12.9	TTPA, SETX
17	motor neuronopathy	12.8	DCTN1, HMNJ, HSPB8, HSPB3, HSPB1, ATP7A
18	apraxia	12.7	TTPA, SETX
19	muscular atrophy	12.6	GARS, DCTN1, HSPB8, HSPB3, HSPB1, ATP7A
20	axonal neuropathy	12.6	GARS, NEFL, TUBB, HSPB1, SETX
21	motor neuron disease	12.6	DCTN1, HSPB1, BSCL2, SETX
22	amyotrophic lateral sclerosis (als)	12.5	NEFL, DCTN1, HSPB8, SETX
23	facioscapulohumeral muscular dystrophy	12.5	TUBBP1, TUBBP5, SNX25
24	neurodegenerative disease	12.5	NEFL, TTPA, SRSF9, HSPB8, HSPB1, ATP7A
25	neurodegeneration	12.3	GARS, NEFL, DCTN1, TTPA, TUBB, HSPB1
26	paralysis	12.2	SETX, HSPB1, DCTN1, NEFL
27	huntington's disease	12.2	NEFL, DCTN1, DNAJB2, HIP1, TUBB, TUBA1B
28	olivopontocerebellar atrophy	12.0	SETX, HSPB1, TTPA, NEFL
29	distal hereditary motor neuronopathy, type iic	8.5
30	neuronitis	8.4	TUBA1C, TUBB, PTPN12, SRSF9, HIP1, TTPA
31	distal hereditary motor neuronopathy, type iia	7.6
32	distal hereditary motor neuronopathy, type iib	7.6
33	distal spinal muscular atrophy 4	7.6
34	distal spinal muscular atrophy, type v	7.6
35	distal hereditary motor neuronopathy type viib	7.6
36	refsum disease	5.5
37	riley-day syndrome	5.5
38	werdnig-hoffmann disease	5.5
39	was-related disorders	5.5
40	age related macular degeneration	5.5
41	charcot-marie-tooth neuropathy type 1	5.5
42	dnmt1-related dementia, deafness, and sensory neuropathy	5.5
43	hereditary neuropathy with liability to pressure palsies	5.5
44	hereditary sensory and autonomic neuropathy type ii	5.5
45	hereditary sensory neuropathy type ia	5.5
46	hereditary neuropathy with liability to pressure palsy	5.5
47	hereditary type 1 neuropathy	5.5
48	hereditary type 2 neuropathy	5.5
49	hereditary neuropathies	5.5
50	macular degeneration	5.5

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to distal hereditary motor neuropathy:

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MGI Mouse Phenotypes related to distal hereditary motor neuropathy:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system phenotype	MP:0003631	6.8	CLIP2, NEFL, DCTN1, TTPA, HIP1, CUX2

Articles related to distal hereditary motor neuropathy:

(show all 16)

id	Title	Authors	Year	Affiliating Genes
1	N88S mutation in the BSCL2 gene in a Serbian family w ith distal hereditary motor neuropathy type V or Silver syndrome. (20598714)	RakoceviA8-StojanoviA8 V.... De Jonghe P.	2010	BSCL2
2	Missense mutations in the copper transporter gene ATP 7A cause X-linked distal hereditary motor neuropathy. (20170900)	Kennerson M.L.... Garbern J.Y.	2010	ATP7A
3	Isolated vitamin E deficiency mimicking distal hereditary motor neuropathy in a 13-year-old boy. (18984846)	Fusco C.... Della Giustina E.	2008	TTPA
4	Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study. (18325928)	Dierick I.... Timmerman V.	2008	DCTN1, GARS, SETX
5	Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation. (18587268)	Chung K.W.... Choi B.O.	2008	HSPB1
6	Identification of de novo BSCL2 Ser90Leu mutation in a Korean family with Silver syndrome and distal hereditary motor neuropathy. (17486577)	Cho H.J.... Ki C.S.	2007	BSCL2
7	The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V. (16769947)	Dubourg O.... Leguern E.	2006	GARS
8	BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. (16427281)	van de Warrenburg B.P.... van Engelen B.G.	2006	BSCL2
9	Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy. (16155736)	Kijima K.... Hayasaka K.	2005	HSPB1
10	Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. (15122254)	Evgrafov O.V.... Timmerman V.	2004	HSPB1, NEFL, MAGI2
11	Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. (14981520)	Windpassinger C.... Wagner K.	2004	BSCL2
12	Mutation analysis of 12 candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3. (12090300)	Irobi J.... Timmerman V.	2002	TUBB, TUBA1A, ARF3
13	Exclusion of 5 functional candidate genes for distal hereditary motor neuropathy type II (distal HMN II) linked to 12q24.3. (11851982)	Irobi J.... Timmerman V.	2001	CLIP1
14	A clone contig of 12q24.3 encompassing the distal hereditary motor neuropathy type II gene. (10777663)	Irobi J.... Beuten J.	2000	HSPB8
15	Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24. (8817349)	Timmerman V.... Van Broeckhoven C.	1996	HSPB8
16	Linkage analysis of distal hereditary motor neuropathy type II (distal HMN II) in a single pedigree. (1517763)	Timmerman V.... Van Broeckhoven C.	1992	HSPB8

Genes related to distal hereditary motor neuropathy according to GeneCards:

(show all 36)

id	Symbol	Description	Score	GeneCards Section Context
1	HSPB1	heat shock 27kDa protein 1	11.1	Publications, Summaries
2	HMNJ	Distal hereditary motor neuropathy, Jerash type	11.1	Aliases & Descriptions
3	HSPB3	heat shock 27kDa protein 3	11.0	Summaries
4	HCAR3	hydroxycarboxylic acid receptor 3	11.0	Publications
5	BSCL2	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	11.0	Publications
6	HSPB8	heat shock 22kDa protein 8	11.0	Publications
7	ARF3	ADP-ribosylation factor 3	11.0	Publications
8	GARS	glycyl-tRNA synthetase	11.0	Publications
9	TUBA1A	tubulin, alpha 1a	11.0	Publications
10	TUBA1C	tubulin, alpha 1c	11.0	Publications
11	TUBA1B	tubulin, alpha 1b	11.0	Publications
12	DDX23	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	11.0	Publications
13	CLIP1	CAP-GLY domain containing linker protein 1	11.0	Publications
14	TUBB	tubulin, beta class I	11.0	Publications
15	TUBBP1	tubulin, beta pseudogene 1	11.0	Disorders
16	HMX2	H6 family homeobox 2	11.0
17	MLXIP	MLX interacting protein	11.0	Disorders
18	GZMH	granzyme H (cathepsin G-like 2, protein h-CCPX)	11.0
19	TTPA	tocopherol (alpha) transfer protein	11.0	Publications
20	NEFL	neurofilament, light polypeptide	11.0	Publications
21	DNAJB2	DnaJ (Hsp40) homolog, subfamily B, member 2	11.0
22	TUBBP5	tubulin, beta pseudogene 5	11.0	Disorders
23	SRSF9	serine/arginine-rich splicing factor 9	11.0
24	CACNB3	calcium channel, voltage-dependent, beta 3 subunit	11.0
25	AGPAT2	1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)	11.0
26	PTPN12	protein tyrosine phosphatase, non-receptor type 12	11.0	Publications
27	DCTN1	dynactin 1	11.0	Publications
28	CLIP2	CAP-GLY domain containing linker protein 2	11.0	Publications
29	ATP7A	ATPase, Cu++ transporting, alpha polypeptide	11.0	Publications
30	CUX2	cut-like homeobox 2	11.0	Disorders
31	HIP1	huntingtin interacting protein 1	11.0	Publications
32	REEP1	receptor accessory protein 1	11.0	Disorders
33	RPLP0	ribosomal protein, large, P0	11.0	Disorders
34	SETX	senataxin	11.0	Publications
35	SNX25	sorting nexin 25	11.0	Disorders
36	MAGI2	membrane associated guanylate kinase, WW and PDZ domain containing 2	11.0	Publications

Pathways related to distal hereditary motor neuropathy according to GeneDecks:

(show all 23)

id	Pathway	Score	Top Affiliating Genes
1	wtCFTR and deltaF508 traffic / Membrane expression (norm and CF)41	10.2	TUBB, TUBA1C, TUBA1B, TUBA1A
2	Cytoskeleton remodeling Keratin filaments10	10.2	TUBB, TUBA1C, TUBA1B, TUBA1A
3	Cell adhesion Gap junctions10	10.2	TUBB, TUBA1C, TUBA1B, TUBA1A
4	Cytoskeleton remodeling_Keratin filaments41	10.2	TUBA1A, TUBA1B, TUBA1C, TUBB
5	Cell adhesion_Gap junctions41	10.2	TUBB, TUBA1C, TUBA1B, TUBA1A
6	Cytoskeleton remodeling Slit-Robo signaling10	10.1	TUBB, TUBA1C, TUBA1B, TUBA1A
7	Pathogenic Escherichia coli infection20	10.1	TUBB, TUBA1C, TUBA1B, TUBA1A
8	Development_Slit-Robo signaling41	10.1	TUBB, TUBA1C, TUBA1B, TUBA1A
9	Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway10	10.1	TUBA1A, TUBA1B, TUBA1C, TUBB
10	Proteolysis_Role of Parkin in the Ubiquitin-Proteasomal Pathway41	10.1	TUBB, TUBA1C, TUBA1B, TUBA1A
11	Neurophysiological process Receptor-mediated axon growth repulsion10	10.1	TUBA1A, TUBA1B, TUBA1C, TUBB
12	Cytoskeleton remodeling Reverse signaling by ephrin B10	10.0	TUBB, TUBA1C, TUBA1B, TUBA1A
13	Neurophysiological process_Receptor-mediated axon growth repulsion41	10.0	TUBB, TUBA1C, TUBA1B, TUBA1A
14	Cytoskeleton remodeling_Reverse signaling by ephrin B41	9.9	TUBA1A, TUBA1B, TUBA1C, TUBB
15	Cytoplasmic microtubules10	9.9	DCTN1, TUBB, TUBA1C, TUBA1B, TUBA1A
16	Cell cycle Spindle assembly and chromosome separation10	9.9	TUBA1A, TUBA1B, TUBA1C, TUBB, DCTN1
17	Cell cycle_Spindle assembly and chromosome separation41	9.9	DCTN1, TUBB, TUBA1C, TUBA1B, TUBA1A
18	Gap junction20	9.9	TUBB, TUBA1C, TUBA1B, TUBA1A
19	Phagosome20	9.9	TUBA1A, TUBA1B, TUBA1C, TUBB
20	Regulation of CFTR activity (norm and CF)41	9.8	TUBB, TUBA1C, TUBA1B, TUBA1A
21	Cytoskeleton remodeling Neurofilaments10	9.7	TUBA1A, TUBA1B, TUBA1C, TUBB, DCTN1, NEFL
22	Cytoskeleton remodeling_Neurofilaments41	9.7	NEFL, DCTN1, TUBB, TUBA1C, TUBA1B, TUBA1A
23	Cytoskeletal Signaling3	9.3	NEFL, TUBB, TUBA1B, TUBA1A, CLIP1

Compounds related to distal hereditary motor neuropathy according to GeneDecks:

(show all 14)

id	Compound	Score	Top Affiliating Genes
1	pironetin32	10.3	TUBA1B, TUBB
2	2-MERCAPTO-N-[1,2,3,10-TETRAMETHOXY-9-OXO-5,6,7,9-TETRAHYDRO-BENZO[A]HEPTALEN-7-YL]ACETAMIDE9 9	11.2	TUBA1A, TUBA1B, TUBA1C
3	albendazole32 9 9	12.2	TUBA1A, TUBB
4	Epothilone D9 9	11.2	TUBA1A, TUBA1B, TUBA1C, TUBB
5	epothilone b32 9 9	12.1	TUBB, TUBA1C, TUBA1B, TUBA1A
6	vinblastine sulfate42	10.1	TUBB, TUBA1C, TUBA1B, TUBA1A
7	vincristine sulfate42	10.1	TUBB, TUBA1C, TUBA1B, TUBA1A
8	taxol42	10.1	TUBB, TUBA1C, TUBA1B, TUBA1A
9	xrp44x42	10.1	TUBB, TUBA1C, TUBA1B, TUBA1A
10	colchicine32 9 9	12.1	HSPB1, TUBA1B, TUBB
11	nocodazole32 42 9 9	12.9	TUBB, TUBA1C, TUBA1B, TUBA1A, CLIP1
12	podophyllotoxin32	9.9	TUBA1B, TUBB
13	glutamine32	9.2	DCTN1, TTPA, HIP1, TUBB, TUBA1B, HSPB1
14	atp32	8.5	GARS, NEFL, TTPA, RPLP0, TUBB, TUBA1B

Cellular components related to distal hereditary motor neuropathy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasmic microtubule	GO:005881	9.4	CLIP1, CLIP2, TUBA1A, TUBA1B
2	microtubule	GO:005874	9.2	TUBBP5, TUBB, TUBA1C, TUBA1B, TUBA1A, CLIP1

Biological processes related to distal hereditary motor neuropathy according to GeneDecks:

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	response to unfolded protein	GO:006986	10.0	HSPB1, HSPB3, DNAJB2
2	cytoskeleton-dependent intracellular transport	GO:030705	10.0	TUBA1A, TUBA1B, TUBA1C, TUBB
3	microtubule-based process	GO:007017	9.9	TUBA1A, TUBA1B, TUBA1C, TUBB
4	de novo posttranslational protein folding	GO:051084	9.7	TUBA1A, TUBA1B, TUBA1C
5	protein polymerization	GO:051258	9.7	TUBBP5, TUBB, TUBA1C, TUBA1B, TUBA1A
6	microtubule-based movement	GO:007018	9.5	TUBBP5, TUBB, TUBA1C, TUBA1B, TUBA1A
7	cell death	GO:008219	8.6	REEP1, GARS, DCTN1, HSPB8, HSPB3, HSPB1

Molecular functions related to distal hereditary motor neuropathy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	microtubule plus-end binding	GO:051010	10.0	CLIP1, CLIP2
2	GTPase activity	GO:003924	9.6	ARF3, TUBA1A, TUBA1B, TUBA1C, TUBB, TUBBP5
3	structural molecule activity	GO:005198	9.5	TUBBP5, TUBB, TUBA1C, TUBA1B, TUBA1A
4	structural constituent of cytoskeleton	GO:005200	9.5	NEFL, HIP1, TUBB, TUBA1B
5	GTP binding	GO:005525	9.2	TUBBP5, TUBB, TUBA1C, TUBA1B, TUBA1A, ARF3