SPSMA
MCID: AMY028
MIFTS: 20

Amyotrophy, Neurogenic Scapuloperoneal, New England Type (SPSMA) malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories
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Summaries for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

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MalaCards based summary: Amyotrophy, Neurogenic Scapuloperoneal, New England Type, also known as scapuloperoneal spinal muscular atrophy, is related to muscular atrophy and spinal muscular atrophy, and has symptoms including An important gene associated with Amyotrophy, Neurogenic Scapuloperoneal, New England Type is TRPV4 (transient receptor potential cation channel, subfamily V, member 4).

Description from OMIM:46 181405

Aliases & Classifications for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

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Amyotrophy, Neurogenic Scapuloperoneal, New England Type, Aliases & Descriptions:

Name: Amyotrophy, Neurogenic Scapuloperoneal, New England Type 42
Scapuloperoneal Spinal Muscular Atrophy 42 20 22 46
 
Scapuloperoneal Form of Spinal Muscular Atrophy 62
Spsma 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases


Related Diseases for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

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Diseases related to Amyotrophy, Neurogenic Scapuloperoneal, New England Type via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1muscular atrophy31.0TRPV4
2spinal muscular atrophy10.5
3mitochondrial cardiomyopathy10.4
4brachyolmia type 310.1TRPV4
5parastremmatic dwarfism10.1TRPV4
6metatropic dysplasia10.0TRPV4

Graphical network of diseases related to Amyotrophy, Neurogenic Scapuloperoneal, New England Type:



Diseases related to amyotrophy, neurogenic scapuloperoneal, new england type

Symptoms for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

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Symptoms by clinical synopsis from OMIM:

181405

Clinical features from OMIM:

181405

HPO human phenotypes related to Amyotrophy, Neurogenic Scapuloperoneal, New England Type:

(show all 34)
id Description Frequency HPO Source Accession
1 distal sensory impairment rare (5%) HP:0002936
2 autosomal dominant inheritance HP:0000006
3 torticollis HP:0000473
4 hyporeflexia HP:0001265
5 motor delay HP:0001270
6 areflexia HP:0001284
7 hip dysplasia HP:0001385
8 talipes equinovarus HP:0001762
9 metatarsus adductus HP:0001840
10 broad-based gait HP:0002136
11 scoliosis HP:0002650
12 kyphosis HP:0002808
13 hyperlordosis HP:0003307
14 gowers sign HP:0003391
15 muscle fiber splitting HP:0003555
16 generalized amyoplasia HP:0003634
17 scapular winging HP:0003691
18 scapuloperoneal amyotrophy HP:0003697
19 incomplete penetrance HP:0003829
20 motor polyneuropathy HP:0007178
21 progressive distal muscular atrophy HP:0008955
22 peroneal muscle atrophy HP:0009049
23 scapular muscle atrophy HP:0009060
24 progressive distal muscle weakness HP:0009063
25 diaphragmatic weakness HP:0009113
26 facial palsy HP:0010628
27 abducens palsy HP:0011349
28 peroneal muscle weakness HP:0011727
29 clinodactyly HP:0030084
30 small hand HP:0200055
31 autosomal recessive inheritance HP:0000007
32 spinal muscular atrophy HP:0007269
33 peroneal muscle atrophy HP:0009049
34 scapular muscle atrophy HP:0009060

Drugs & Therapeutics for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

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Drug clinical trials:

Search ClinicalTrials for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

Search NIH Clinical Center for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

Genetic Tests for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

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Genetic tests related to Amyotrophy, Neurogenic Scapuloperoneal, New England Type:

id Genetic test Affiliating Genes
1 Scapuloperoneal Spinal Muscular Atrophy20 22 TRPV4

Anatomical Context for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

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Animal Models for Amyotrophy, Neurogenic Scapuloperoneal, New England Type or affiliated genes

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Publications for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

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Variations for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

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UniProtKB/Swiss-Prot genetic disease variations for Amyotrophy, Neurogenic Scapuloperoneal, New England Type:

64
id Symbol AA change Variation ID SNP ID
1TRPV4p.Arg316CysVAR_063530

Clinvar genetic disease variations for Amyotrophy, Neurogenic Scapuloperoneal, New England Type:

6
id Gene Name Type Significance SNP ID Assembly Location
1TRPV4NM_021625.4(TRPV4): c.943C> T (p.Arg315Trp)single nucleotide variantPathogenicrs267607143GRCh37Chr 12, 110236628: 110236628
2TRPV4NM_021625.4(TRPV4): c.946C> T (p.Arg316Cys)single nucleotide variantPathogenicrs267607145GRCh37Chr 12, 110236625: 110236625
3TRPV4NM_021625.4(TRPV4): c.805C> T (p.Arg269Cys)single nucleotide variantPathogenicrs267607146GRCh37Chr 12, 110238471: 110238471

Expression for genes affiliated with Amyotrophy, Neurogenic Scapuloperoneal, New England Type

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Expression patterns in normal tissues for genes affiliated with Amyotrophy, Neurogenic Scapuloperoneal, New England Type

Search GEO for disease gene expression data for Amyotrophy, Neurogenic Scapuloperoneal, New England Type.

Pathways for genes affiliated with Amyotrophy, Neurogenic Scapuloperoneal, New England Type

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Compounds for genes affiliated with Amyotrophy, Neurogenic Scapuloperoneal, New England Type

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GO Terms for genes affiliated with Amyotrophy, Neurogenic Scapuloperoneal, New England Type

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Products for genes affiliated with Amyotrophy, Neurogenic Scapuloperoneal, New England Type

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  • Antibodies
  • Proteins
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Sources for Amyotrophy, Neurogenic Scapuloperoneal, New England Type

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet