Scapuloperoneal Spinal Muscular Atrophy malady

MalaCards: Scapuloperoneal Spinal Muscular Atrophy, also known as amyotrophy, neurogenic scapuloperoneal, new england type, is related to spinal-bulbar muscular atrophy and neuronitis. An important gene associated with Scapuloperoneal Spinal Muscular Atrophy is TRPV4 (transient receptor potential cation channel, subfamily V, member 4).

OMIM: 181405

scapuloperoneal spinal muscular atrophy 7 16 33 amyotrophy, neurogenic scapuloperoneal, new england type 16 scapuloperoneal form of spinal muscular atrophy 43

muscular atrophy 43 spsma 16

Diseases related to scapuloperoneal spinal muscular atrophy by text searches and GeneDecks gene sharing:

(show top 50)    (show all 100)

id	Related Disease	Score	Top Affiliating Genes
1	spinal-bulbar muscular atrophy	11.3
2	neuronitis	10.9
3	distal spinal muscular atrophy, type v	9.4
4	spinal muscular atrophy with respiratory distress	9.4
5	adult spinal muscular atrophy	9.3
6	progressive muscular atrophy	9.3
7	juvenile spinal muscular atrophy	9.1
8	x-linked spinal-bulbar muscle atrophy	9.1
9	proximal spinal muscular atrophy	9.0
10	spinal muscular atrophy with respiratory distress 1	9.0
11	kennedy's disease	8.9
12	spinal muscular atrophy 1	8.6
13	spinal muscular atrophy type 2	8.6
14	charcot-marie-tooth disease	8.4
15	intermediate spinal muscular atrophy	8.2
16	spinal muscular atrophy (smn2)	8.2
17	spinal muscular atrophy, lower extremity, autosomal dominant	8.2
18	muscular atrophy	8.1
19	spinal muscular atrophy	8.1
20	amyotrophy, neurogenic scapuloperoneal, new england type	8.1
21	survival motor neuron spinal muscular atrophy	8.0
22	adult progressive spinal muscular atrophy aran duchenne type	7.7
23	amyotrophic lateral sclerosis	7.7
24	distal congenital nonprogressive spinal muscular atrophy	7.7
25	distal spinal muscular atrophy 4	7.7
26	lateral sclerosis	7.7
27	postpoliomyelitis syndrome	7.7
28	spinal muscular atrophy, x-linked infantile	7.7
29	spinal muscular atrophy ryukyuan type	7.7
30	muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus	7.3
31	motor peripheral neuropathy	7.3
32	spinal and bulbar muscular atrophy of kennedy	7.3
33	spinal muscular atrophy (smn1)	7.3
34	spinal muscular atrophy, proximal, adult, autosomal dominant	7.3
35	spinal muscular atrophy, distal, x-linked 3	7.3
36	spinal muscular atrophy, distal, autosomal recessive, 4	7.3
37	spinal muscular atrophy, congenital nonprogressive, of lower limbs	7.3
38	spinal muscular atrophy, chronic distal, autosomal recessive	7.3
39	spinal muscular atrophy, type iii, modifier of	7.3
40	spinal muscular atrophy, late-onset, finkel type	7.3
41	spinal muscular atrophy, x-linked 2, infantile	7.3
42	arthrogryposis spinal muscular atrophy	7.3
43	werdnig-hoffmann disease	7.3
44	benign focal amyotrophy	7.3
45	distal hereditary motor neuropathy type v	7.3
46	monomelic amyotrophy	7.3
47	myopathy	6.8
48	pontocerebellar hypoplasia type 1	6.8
49	spinal muscular atrophy type 1 with congenital bone fractures	6.8
50	3-methylcrotonyl-coa carboxylase deficiency	6.8

Clinical features from OMIM: 181405

Approved drugs:

Drug clinical trials:

Genetic tests related to scapuloperoneal spinal muscular atrophy:

id	Genetic test	Affiliating Genes
1	Scapuloperoneal Spinal Muscular Atrophy clinical/research	TRPV4

Articles related to scapuloperoneal spinal muscular atrophy:

id	Title	Authors	Year	Affiliating Genes
1	Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. (20037587)	Deng H.X.... Siddique T.	2010	TRPV4

Genes related to scapuloperoneal spinal muscular atrophy according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	TRPV4	transient receptor potential cation channel, subfamily V, member 4	11.1	Publications, Disorders