Facioscapulohumeral Muscular Dystrophy malady

Genetics Home Reference: Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). This condition gets its name from the areas of the body that are affected most often: muscles in the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). The signs and symptoms of facioscapulohumeral muscular dystrophy usually appear in adolescence. However, the onset and severity of the condition varies widely. Milder cases may not become noticeable until later in life, whereas rare severe cases become apparent in infancy or early childhood.¹⁷

MalaCards: Facioscapulohumeral Muscular Dystrophy, also known as muscular dystrophy, facioscapulohumeral, is related to muscular dystrophy and duchenne muscular dystrophy. An important gene associated with Facioscapulohumeral Muscular Dystrophy is FSHMD1A (facioscapulohumeral muscular dystrophy 1A). Affiliated tissues include skeletal muscle.

Wikipedia: Facioscapulohumeral muscular dystrophy (sometimes switched as faciohumeroscapular) (FSHMD, FSHD or FSH),...⁴⁴ more...

GeneReviews summary for fsh

Aliases & Descriptions:

facioscapulohumeral muscular dystrophy 6 15 30 17 8 muscular dystrophy, facioscapulohumeral 30 16 17 43 fsh muscular dystrophy 15 16 17 fshd 30 16 17 facioscapulohumeral muscular dystrophy 1a 30 43 muscular dystrophy, landouzy-dejerine 6 16 landouzy-dejerine muscular dystrophy 6 30 muscular dystrophy, facioscapulohumeral, type 1a 30 facioscapulohumeral muscular dystrophy-1a 33 facioscapuloperoneal muscular dystrophy 17

muscular dystrophy facioscapulohumeral 32 muscular dystrophy, landouzy dejerine 17 landouzy dejerine muscular dystrophy 6 facio-scapulo-humeral dystrophy 17 landouzy-dejerine dystrophy 17 muscular dystrophy 43 dystrophy 43 fshmd1a 30 fshd1a 30

Diseases related to facioscapulohumeral muscular dystrophy by text searches and GeneDecks gene sharing:

(show top 50)    (show all 539)

id	Related Disease	Score	Top Affiliating Genes
1	muscular dystrophy	28.8	SLC25A4, LOC653541, FAM71B, FRG1, FRG2, FRG1B
2	duchenne muscular dystrophy	12.9
3	congenital muscular dystrophy	12.9
4	limb-girdle muscular dystrophy	12.8
5	distal hereditary motor neuropathy	12.4	TUBBP1, TUBBP5, SNX25
6	gas gangrene	12.3	MYOZ2, DMD
7	becker muscular dystrophy	12.2
8	emery-dreifuss muscular dystrophy	11.9
9	oculopharyngeal muscular dystrophy	11.6
10	corneal dystrophy	11.3
11	macular dystrophy	10.1
12	myopathy	10.1
13	ullrich congenital muscular dystrophy	10.1
14	fukuyama type muscular dystrophy	10.0
15	cardiomyopathy	9.9
16	fukuyama congenital muscular dystrophy	9.8
17	cone-rod dystrophy	9.6
18	limb-girdle muscular dystrophy, type 2b	9.6
19	tibial muscular dystrophy	9.6
20	distal muscular dystrophy	9.4
21	limb-girdle muscular dystrophy, type 2c	9.3
22	vitelliform macular dystrophy	9.3
23	epidermolysis bullosa	9.2
24	muscular dystrophy, duchenne and becker type	9.2
25	lattice corneal dystrophy	9.2
26	limb-girdle muscular dystrophy type 2h	9.1
27	neuronitis	9.1
28	calpainopathy	9.0
29	cone dystrophy	9.0
30	limb-girdle muscular dystrophy, type 1a	8.9
31	limb-girdle muscular dystrophy type 2i	8.9
32	miyoshi myopathy	8.9
33	limb-girdle muscular dystrophy, type 1b	8.8
34	limb-girdle muscular dystrophy, type 2g	8.8
35	limb-girdle muscular dystrophy type 2e	8.8
36	candidiasis	8.8
37	congenital muscular dystrophy type 1a	8.7
38	epidermolysis bullosa simplex	8.7
39	lama2-related muscular dystrophy	8.7
40	limb-girdle muscular dystrophy, type 2d	8.7
41	muscular dystrophy with epidermolysis bullosa simplex	8.7
42	scleroatonic muscular dystrophy	8.7
43	walker-warburg syndrome	8.7
44	meesmann corneal dystrophy	8.6
45	congenital muscular dystrophy multi-gene panels	8.5
46	limb-girdle muscular dystrophy type 2k	8.5
47	fundus dystrophy	8.4
48	macular corneal dystrophy	8.4
49	limb-girdle muscular dystrophy type 1d	8.3
50	limb-girdle muscular dystrophy type 2j	8.3

Approved drugs:

Drug clinical trials:

Genetic tests related to facioscapulohumeral muscular dystrophy:

id	Genetic test	Affiliating Genes
1	Facioscapulohumeral Muscular Dystrophy clinical/research	DUX4

MalaCards organs/tissues related to facioscapulohumeral muscular dystrophy:

²²

Articles related to facioscapulohumeral muscular dystrophy:

(show all 25)

id	Title	Authors	Year	Affiliating Genes
1	Facioscapulohumeral muscular dystrophy region gene 1 is a dynamic RNA-associated and actin-bundling protein. (21699900)	Sun C.Y.... Jones P.L.	2011	FRG1
2	Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) is a dynamic nuclear and sarcomeric protein. (20970242)	Hanel M.L.... Jones P.L.	2011	FRG1
3	Facioscapulohumeral muscular dystrophy region gene-1 (FRG-1) is an actin-bundling protein associated with muscle-attachment sites. (20215405)	Liu Q.... Jones P.L.	2010	FRG1
4	A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy. (20724583)	Lemmers R.J.... van der Maarel S.M.	2010	DUX4, DUX4L
5	FSHD region gene 1 (FRG1) is crucial for angiogenesis linking FRG1 to facioscapulohumeral muscular dystrophy-associated vasculopathy. (19383939)	Wuebbles R.D.... Jones P.L.	2009	FRG1
6	Phenotype of combined Duchenne and facioscapulohumeral muscular dystrophy. (18586493)	Korngut L.... Campbell C.	2008	DMD
7	Alteration of expression of muscle specific isoforms of the fragile X related protein 1 (FXR1P) in facioscapulohumeral muscular dystrophy patients. (18628314)	Davidovic L.... Bardoni B.	2008	FXR1, MYOZ2
8	DUX4, a candidate gene of facioscapulohumeral muscular dystrophy, encodes a transcriptional activator of PITX1. (17984056)	Dixit M.... Chen Y.W.	2007	PITX1, DUX4
9	Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy. (17668377)	Clapp J.... Hewitt J.E.	2007	DUX4, DUX4L2, DUX4L4
10	Abnormal expression of mu-crystallin in facioscapulohumeral muscular dystrophy. (17451686)	Reed P.W.... Bloch R.J.	2007	CRYM
11	Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1. (16341202)	Gabellini D.... Tupler R.	2006	SLC25A4, FRG1, FRG2
12	Polymorphism of the D4Z4 locus associated with facioscapulohumeral muscular dystrophy 1A in Shanghai population. (16086272)	Zhang Y.Z.... Urtizberea J.A.	2005	DUX4
13	Increased levels of adenine nucleotide translocator 1 protein and response to oxidative stress are early events in facioscapulohumeral muscular dystrophy muscle. (15551024)	Laoudj-Chenivesse D.... Fernandez A.	2005	SLC25A4
14	D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection. (12874395)	Lemmers R.J.... Upadhyaya M.	2003	FSHMD1A
15	Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q. (14506132)	Jiang G.... Ehrlich M.	2003	FSHMD1A
16	Normal calcium homeostasis in dystrophin-expressing facioscapulohumeral muscular dystrophy myotubes. (11801398)	Vandebrouck C.... Cognard C.	2002	DMD
17	Progress in researches on the molecular genetics of facioscapulohumeral muscular dystrophy (11592052)	Su Q.... Zhang C.	2001	FRG1, FSHMD1A
18	An inherited 4q35-EcoRI-DNA-fragment of 35 kb in a family with a sporadic case of facioscapulohumeral muscular dystrophy (FSHD). (10734264)	Busse K.... Schreiber H.	2000	FSHMD1A
19	Exclusion of muscle specific actinin-associated LIM protein (ALP) gene from 4q35 facioscapulohumeral muscular dystrophy (FSHD) candidate genes. (10063829)	Bouju S.... Dechesne C.A.	1999	PDLIM5, PDLIM3
20	Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD). (9132141)	Fisher J.... Upadhyaya M.	1997	FRG1
21	Characterization of a tandemly repeated 3.3kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35. (7739628)	Lee J.... Arahata K.	1995	DUX4, DUX4L2, DUX4L4
22	Pulsed-field gel electrophoresis of the D4F104S1 locu s reveals the size and the parental origin of the facioscapulohumeral muscular dystrophy (FSHD)-associated deletions. (7910579)	Wijmenga C.... Frants R.R.	1994	FSHMD1A
23	Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy. (7987304)	Hewitt J.E.... Williamson R.	1994	DUX4L9
24	The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus. (8103757)	Wijmenga C.... Frants R.R.	1993	SLC25A4
25	Evidence for heterogeneity in facioscapulohumeral muscular dystrophy (FSHD). (8328457)	Gilbert J.R.... Yamaoka L.H.	1993	FSHMD1B

Genes related to facioscapulohumeral muscular dystrophy according to GeneCards:

(show all 40)

id	Symbol	Description	Score	GeneCards Section Context
1	FSHMD1A	facioscapulohumeral muscular dystrophy 1A	11.1	Publications, Aliases & Descriptions, Summaries
2	FRG1	FSHD region gene 1	11.1	Summaries, Orthologs, Aliases & Descriptions, Publications
3	DUX4	double homeobox 4	11.1	Summaries, Publications
4	FSHMD1B	facioscapulohumeral muscular dystrophy 1B	11.1	Aliases & Descriptions, Publications
5	DUXB	double homeobox B	11.0	Publications
6	LOC653541	double homeobox, 4-like	11.0	Publications
7	LOC100134091	protein FRG1B-like	11.0	Orthologs
8	TUBBP1	tubulin, beta pseudogene 1	11.0	Disorders
9	DUX4L7	double homeobox 4 like 7	11.0	Publications
10	DUX4L6	double homeobox 4 like 6	11.0	Publications
11	DUX4L2	double homeobox 4 like 2	11.0	Publications
12	DUX4L3	double homeobox 4 like 3	11.0	Publications
13	DUX4L5	double homeobox 4 like 5	11.0	Publications
14	PRR20E	proline rich 20E	11.0	Disorders
15	DUX2	double homeobox 2	11.0	Disorders
16	DUX4L4	double homeobox 4 like 4	11.0	Publications
17	PRR20C	proline rich 20C	11.0	Disorders
18	FRG2	FSHD region gene 2	11.0	Publications
19	HSP90AA4P	heat shock protein 90kDa alpha (cytosolic), class A member 4, pseudogene	11.0	Disorders
20	FRG2B	FSHD region gene 2 family, member B	11.0	Disorders
21	PRR20A	proline rich 20A	11.0	Disorders
22	FAM71B	family with sequence similarity 71, member B	11.0
23	DUX4L9	double homeobox 4 like 9	11.0	Publications, UniProt Related
24	DUXA	double homeobox A	11.0	Disorders
25	PITX1	paired-like homeodomain 1	11.0	Publications
26	MNX1	motor neuron and pancreas homeobox 1	11.0	Disorders
27	SLC25A4	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4	11.0	Publications
28	TUBBP5	tubulin, beta pseudogene 5	11.0	Disorders
29	TAF11	TAF11 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 28kDa	11.0	Disorders
30	CRYM	crystallin, mu	11.0	Publications
31	FXR1	fragile X mental retardation, autosomal homolog 1	11.0	Publications
32	PDLIM3	PDZ and LIM domain 3	11.0	Publications
33	MYOZ2	myozenin 2	11.0	Publications
34	FRG1B	FSHD region gene 1 family, member B	11.0	Orthologs
35	SNX25	sorting nexin 25	11.0
36	ASH1L	ash1 (absent, small, or homeotic)-like (Drosophila)	11.0	Disorders
37	PDLIM5	PDZ and LIM domain 5	11.0	Publications
38	SORBS2	sorbin and SH3 domain containing 2	11.0	Disorders
39	DMD	dystrophin	11.0	Publications
40	DUX4L	double homeobox 4-like	10.6	Publications

Cellular components related to facioscapulohumeral muscular dystrophy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	actin cytoskeleton	GO:015629	8.7	MYOZ2, PDLIM3, PDLIM5, SORBS2
2	Z disc	GO:030018	8.4	MYOZ2, PDLIM3, PDLIM5, SORBS2

Biological processes related to facioscapulohumeral muscular dystrophy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	transcription, DNA-dependent	GO:006351	8.7	MNX1, DUXA, DUX4L9, DUX4L7, DUX4L6, DUX4L5

Molecular functions related to facioscapulohumeral muscular dystrophy according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	actinin binding	GO:042805	9.3	PDLIM3, PDLIM5
2	transcription regulatory region sequence-specific DNA binding	GO:000976	9.1	DUX4, DUXA, DUX4L9, DUX4L7, DUX4L6, DUX4L5
3	structural constituent of muscle	GO:008307	8.7	DMD, PDLIM3, SORBS2
4	sequence-specific DNA binding transcription factor activity	GO:003700	8.4	DUX4L6, DUX4L7, DUX4L9, DUXA, PITX1, DUX4L5