MCID: SCP002
MIFTS: 29

Scapuloperoneal Spinal Muscular Atrophy

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Scapuloperoneal Spinal Muscular Atrophy

MalaCards integrated aliases for Scapuloperoneal Spinal Muscular Atrophy:

Name: Scapuloperoneal Spinal Muscular Atrophy 57 53 59 75 37 29 13 6
Spsma 57 53 59 75
Amyotrophy, Neurogenic Scapuloperoneal, New England Type 57 53
Spinal Muscular Atrophy, Scapuloperoneal 57 29
Neurogenic Scapuloperoneal Amyotrophy, New England Type 59
Amyotrophy Neurogenic Scapuloperoneal New England Type 75
Scapuloperoneal Form of Spinal Muscular Atrophy 73
Atrophy, Muscular, Spinal, Scapuloperoneal 40
Scapuloperoneal Neuronopathy 59

Characteristics:

Orphanet epidemiological data:

59
scapuloperoneal spinal muscular atrophy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
nonprogressive or slowly progressive
onset at birth or in infancy


HPO:

32
scapuloperoneal spinal muscular atrophy:
Onset and clinical course incomplete penetrance
Inheritance autosomal dominant inheritance

spinal muscular atrophy, scapuloperoneal:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Scapuloperoneal Spinal Muscular Atrophy

UniProtKB/Swiss-Prot : 75 Scapuloperoneal spinal muscular atrophy: A clinically variable neuromuscular disorder characterized by neurogenic scapuloperoneal amyotrophy, laryngeal palsy, congenital absence of muscles, progressive scapuloperoneal atrophy and progressive distal weakness and amyotrophy.

MalaCards based summary : Scapuloperoneal Spinal Muscular Atrophy, also known as spsma, is related to spinal muscular atrophy and muscular atrophy, and has symptoms including torticollis and facial paresis. An important gene associated with Scapuloperoneal Spinal Muscular Atrophy is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4). Related phenotypes are clinodactyly and scoliosis

Description from OMIM: 181405 271220

Related Diseases for Scapuloperoneal Spinal Muscular Atrophy

Diseases related to Scapuloperoneal Spinal Muscular Atrophy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy 10.4
2 muscular atrophy 10.4
3 brachyolmia 9.0 MIR4497 TRPV4

Symptoms & Phenotypes for Scapuloperoneal Spinal Muscular Atrophy

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
clinodactyly
small hands

Skeletal Pelvis:
hip dysplasia

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
peripheral motor neuropathy
decreased distal sensation (less common)

Muscle Soft Tissue:
peroneal muscle atrophy
gowers sign
amyotrophy, neurogenic
scapular muscle weakness
scapular muscle atrophy
more
Head And Neck Eyes:
abducens palsy

Skeletal Feet:
metatarsus varus
club feet

Respiratory:
respiratory insufficiency in infancy
respiratory stridor in infancy

Chest External Features:
rounded shoulders due to muscle atrophy

Voice:
hoarse voice due to laryngeal palsy

Skeletal Spine:
scoliosis
kyphosis
hyperlordosis

Chest Ribs Sternum Clavicles And Scapulae:
scapular winging
laterally placed scapulae

Head And Neck Neck:
torticollis
weak neck flexion

Chest Diaphragm:
diaphragmatic weakness

Neurologic Central Nervous System:
delayed motor development
wide-based gait

Head And Neck Face:
facial weakness

Respiratory Larynx:
laryngeal palsy

Skeletal Limbs:
asymmetric limb length (less common)


Clinical features from OMIM:

181405 271220

Human phenotypes related to Scapuloperoneal Spinal Muscular Atrophy:

32 (show all 29)
# Description HPO Frequency HPO Source Accession
1 clinodactyly 32 HP:0030084
2 scoliosis 32 HP:0002650
3 kyphosis 32 HP:0002808
4 hyperlordosis 32 HP:0003307
5 facial palsy 32 HP:0010628
6 hip dysplasia 32 HP:0001385
7 metatarsus adductus 32 HP:0001840
8 scapular winging 32 HP:0003691
9 small hand 32 HP:0200055
10 talipes equinovarus 32 HP:0001762
11 areflexia 32 HP:0001284
12 hyporeflexia 32 HP:0001265
13 motor delay 32 HP:0001270
14 torticollis 32 HP:0000473
15 peroneal muscle atrophy 32 HP:0009049
16 diaphragmatic weakness 32 HP:0009113
17 distal sensory impairment 32 occasional (7.5%) HP:0002936
18 broad-based gait 32 HP:0002136
19 progressive distal muscular atrophy 32 HP:0008955
20 abducens palsy 32 HP:0011349
21 motor polyneuropathy 32 HP:0007178
22 progressive distal muscle weakness 32 HP:0009063
23 gowers sign 32 HP:0003391
24 muscle fiber splitting 32 HP:0003555
25 scapular muscle atrophy 32 HP:0009060
26 peroneal muscle weakness 32 HP:0011727
27 spinal muscular atrophy 32 HP:0007269
28 amyoplasia 32 HP:0003634
29 scapuloperoneal amyotrophy 32 HP:0003697

UMLS symptoms related to Scapuloperoneal Spinal Muscular Atrophy:


torticollis, facial paresis

Drugs & Therapeutics for Scapuloperoneal Spinal Muscular Atrophy

Search Clinical Trials , NIH Clinical Center for Scapuloperoneal Spinal Muscular Atrophy

Genetic Tests for Scapuloperoneal Spinal Muscular Atrophy

Genetic tests related to Scapuloperoneal Spinal Muscular Atrophy:

# Genetic test Affiliating Genes
1 Scapuloperoneal Spinal Muscular Atrophy 29 TRPV4
2 Spinal Muscular Atrophy, Scapuloperoneal 29

Anatomical Context for Scapuloperoneal Spinal Muscular Atrophy

Publications for Scapuloperoneal Spinal Muscular Atrophy

Articles related to Scapuloperoneal Spinal Muscular Atrophy:

# Title Authors Year
1
TRPV4 related scapuloperoneal spinal muscular atrophy: Report of an Italian family and review of the literature. ( 26948711 )
2016
2
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. ( 20037587 )
2010
3
Exclusion of the expansion of CAG/CTG repeats at thirteen loci on chromosome 12 as a candidate genetic mutation in scapuloperoneal spinal muscular atrophy with anticipation. ( 9187660 )
1997
4
Linkage of scapuloperoneal spinal muscular atrophy to chromosome 12q24.1-q24.31. ( 8872481 )
1996
5
Mitochondrial cardiomyopathy and scapuloperoneal spinal muscular atrophy in a child. ( 7693085 )
1993

Variations for Scapuloperoneal Spinal Muscular Atrophy

UniProtKB/Swiss-Prot genetic disease variations for Scapuloperoneal Spinal Muscular Atrophy:

75
# Symbol AA change Variation ID SNP ID
1 TRPV4 p.Arg316Cys VAR_063530 rs267607145

ClinVar genetic disease variations for Scapuloperoneal Spinal Muscular Atrophy:

6
(show top 50) (show all 124)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 GRCh37 Chromosome 12, 110236628: 110236628
2 TRPV4 NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp) single nucleotide variant Pathogenic rs267607143 GRCh38 Chromosome 12, 109798823: 109798823
3 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 GRCh37 Chromosome 12, 110236625: 110236625
4 TRPV4 NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys) single nucleotide variant Pathogenic rs267607145 GRCh38 Chromosome 12, 109798820: 109798820
5 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 GRCh37 Chromosome 12, 110238471: 110238471
6 TRPV4 NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys) single nucleotide variant Pathogenic rs267607146 GRCh38 Chromosome 12, 109800666: 109800666
7 TRPV4 NM_021625.4(TRPV4): c.1684G> A (p.Val562Ile) single nucleotide variant Benign/Likely benign rs56177950 GRCh37 Chromosome 12, 110230597: 110230597
8 TRPV4 NM_021625.4(TRPV4): c.1684G> A (p.Val562Ile) single nucleotide variant Benign/Likely benign rs56177950 GRCh38 Chromosome 12, 109792792: 109792792
9 TRPV4 NM_021625.4(TRPV4): c.33G> T (p.Gly11=) single nucleotide variant Benign/Likely benign rs56092423 GRCh37 Chromosome 12, 110252569: 110252569
10 TRPV4 NM_021625.4(TRPV4): c.33G> T (p.Gly11=) single nucleotide variant Benign/Likely benign rs56092423 GRCh38 Chromosome 12, 109814764: 109814764
11 TRPV4 NM_021625.4(TRPV4): c.854-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs371733585 GRCh37 Chromosome 12, 110236721: 110236721
12 TRPV4 NM_021625.4(TRPV4): c.854-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs371733585 GRCh38 Chromosome 12, 109798916: 109798916
13 TRPV4 NM_021625.4(TRPV4): c.2605G> A (p.Ala869Thr) single nucleotide variant Uncertain significance rs138396764 GRCh38 Chromosome 12, 109783632: 109783632
14 TRPV4 NM_021625.4(TRPV4): c.2605G> A (p.Ala869Thr) single nucleotide variant Uncertain significance rs138396764 GRCh37 Chromosome 12, 110221437: 110221437
15 TRPV4 NM_021625.4(TRPV4): c.2498A> G (p.Asn833Ser) single nucleotide variant Benign/Likely benign rs116035946 GRCh38 Chromosome 12, 109783739: 109783739
16 TRPV4 NM_021625.4(TRPV4): c.2498A> G (p.Asn833Ser) single nucleotide variant Benign/Likely benign rs116035946 GRCh37 Chromosome 12, 110221544: 110221544
17 TRPV4 NM_021625.4(TRPV4): c.2248G> A (p.Val750Ile) single nucleotide variant Likely benign rs148171058 GRCh38 Chromosome 12, 109786798: 109786798
18 TRPV4 NM_021625.4(TRPV4): c.2248G> A (p.Val750Ile) single nucleotide variant Likely benign rs148171058 GRCh37 Chromosome 12, 110224603: 110224603
19 TRPV4 NM_021625.4(TRPV4): c.1546A> G (p.Ile516Val) single nucleotide variant Likely benign rs115976458 GRCh38 Chromosome 12, 109793968: 109793968
20 TRPV4 NM_021625.4(TRPV4): c.1546A> G (p.Ile516Val) single nucleotide variant Likely benign rs115976458 GRCh37 Chromosome 12, 110231773: 110231773
21 TRPV4 NM_021625.4(TRPV4): c.1308C> T (p.Ile436=) single nucleotide variant Benign/Likely benign rs141244183 GRCh38 Chromosome 12, 109796549: 109796549
22 TRPV4 NM_021625.4(TRPV4): c.1308C> T (p.Ile436=) single nucleotide variant Benign/Likely benign rs141244183 GRCh37 Chromosome 12, 110234354: 110234354
23 TRPV4 NM_021625.4(TRPV4): c.769C> G (p.Leu257Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56217500 GRCh38 Chromosome 12, 109800702: 109800702
24 TRPV4 NM_021625.4(TRPV4): c.769C> G (p.Leu257Val) single nucleotide variant Conflicting interpretations of pathogenicity rs56217500 GRCh37 Chromosome 12, 110238507: 110238507
25 TRPV4 NM_021625.4(TRPV4): c.712+10C> T single nucleotide variant Likely benign rs115657305 GRCh38 Chromosome 12, 109802981: 109802981
26 TRPV4 NM_021625.4(TRPV4): c.712+10C> T single nucleotide variant Likely benign rs115657305 GRCh37 Chromosome 12, 110240786: 110240786
27 TRPV4 NM_021625.4(TRPV4): c.152C> T (p.Pro51Leu) single nucleotide variant Benign/Likely benign rs115861965 GRCh37 Chromosome 12, 110252450: 110252450
28 TRPV4 NM_021625.4(TRPV4): c.152C> T (p.Pro51Leu) single nucleotide variant Benign/Likely benign rs115861965 GRCh38 Chromosome 12, 109814645: 109814645
29 TRPV4 NM_021625.4(TRPV4): c.2433G> C (p.Ser811=) single nucleotide variant Benign/Likely benign rs34071623 GRCh38 Chromosome 12, 109784341: 109784341
30 TRPV4 NM_021625.4(TRPV4): c.2433G> C (p.Ser811=) single nucleotide variant Benign/Likely benign rs34071623 GRCh37 Chromosome 12, 110222146: 110222146
31 TRPV4 NM_021625.4(TRPV4): c.810G> A (p.Gly270=) single nucleotide variant Benign/Likely benign rs147558344 GRCh38 Chromosome 12, 109800661: 109800661
32 TRPV4 NM_021625.4(TRPV4): c.810G> A (p.Gly270=) single nucleotide variant Benign/Likely benign rs147558344 GRCh37 Chromosome 12, 110238466: 110238466
33 TRPV4 NM_021625.4(TRPV4): c.1713C> G (p.Ile571Met) single nucleotide variant Benign rs185933892 GRCh38 Chromosome 12, 109792763: 109792763
34 TRPV4 NM_021625.4(TRPV4): c.1713C> G (p.Ile571Met) single nucleotide variant Benign rs185933892 GRCh37 Chromosome 12, 110230568: 110230568
35 TRPV4 NM_021625.4(TRPV4): c.1341C> T (p.His447=) single nucleotide variant Benign/Likely benign rs57316123 GRCh37 Chromosome 12, 110232284: 110232284
36 TRPV4 NM_021625.4(TRPV4): c.1341C> T (p.His447=) single nucleotide variant Benign/Likely benign rs57316123 GRCh38 Chromosome 12, 109794479: 109794479
37 TRPV4 NM_021625.4(TRPV4): c.387-4C> T single nucleotide variant Benign/Likely benign rs12305439 GRCh38 Chromosome 12, 109808472: 109808472
38 TRPV4 NM_021625.4(TRPV4): c.387-4C> T single nucleotide variant Benign/Likely benign rs12305439 GRCh37 Chromosome 12, 110246277: 110246277
39 TRPV4 NM_021625.4(TRPV4): c.81T> C (p.Gly27=) single nucleotide variant Benign rs34599967 GRCh37 Chromosome 12, 110252521: 110252521
40 TRPV4 NM_021625.4(TRPV4): c.81T> C (p.Gly27=) single nucleotide variant Benign rs34599967 GRCh38 Chromosome 12, 109814716: 109814716
41 TRPV4 NM_021625.4(TRPV4): c.1539C> T (p.Gly513=) single nucleotide variant Benign/Likely benign rs141295418 GRCh37 Chromosome 12, 110231780: 110231780
42 TRPV4 NM_021625.4(TRPV4): c.1539C> T (p.Gly513=) single nucleotide variant Benign/Likely benign rs141295418 GRCh38 Chromosome 12, 109793975: 109793975
43 TRPV4 NM_021625.4(TRPV4): c.1390C> T (p.Arg464Cys) single nucleotide variant Uncertain significance rs373049874 GRCh37 Chromosome 12, 110232235: 110232235
44 TRPV4 NM_021625.4(TRPV4): c.1390C> T (p.Arg464Cys) single nucleotide variant Uncertain significance rs373049874 GRCh38 Chromosome 12, 109794430: 109794430
45 TRPV4 NM_021625.4(TRPV4): c.402C> A (p.Ser134Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201241092 GRCh37 Chromosome 12, 110246258: 110246258
46 TRPV4 NM_021625.4(TRPV4): c.402C> A (p.Ser134Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs201241092 GRCh38 Chromosome 12, 109808453: 109808453
47 TRPV4 NM_021625.4(TRPV4): c.2459-9T> G single nucleotide variant Benign rs115373018 GRCh37 Chromosome 12, 110221592: 110221592
48 TRPV4 NM_021625.4(TRPV4): c.2459-9T> G single nucleotide variant Benign rs115373018 GRCh38 Chromosome 12, 109783787: 109783787
49 TRPV4 NM_021625.4(TRPV4): c.670A> C (p.Arg224=) single nucleotide variant Benign rs3825394 GRCh37 Chromosome 12, 110240838: 110240838
50 TRPV4 NM_021625.4(TRPV4): c.670A> C (p.Arg224=) single nucleotide variant Benign rs3825394 GRCh38 Chromosome 12, 109803033: 109803033

Expression for Scapuloperoneal Spinal Muscular Atrophy

Search GEO for disease gene expression data for Scapuloperoneal Spinal Muscular Atrophy.

Pathways for Scapuloperoneal Spinal Muscular Atrophy

GO Terms for Scapuloperoneal Spinal Muscular Atrophy

Sources for Scapuloperoneal Spinal Muscular Atrophy

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