DSMA2
MCID: SPN326
MIFTS: 23

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 (DSMA2)

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

Aliases & Classifications for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2

MalaCards integrated aliases for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2:

Name: Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 57
Spinal Muscular Atrophy, Jerash Type 57 53 75 44 73
Neuropathy, Distal Hereditary Motor, Jerash Type 57 53 75 13
Dsma2 57 12 75
Hmnj 57 53 75
Distal Spinal Muscular Atrophy, Autosomal Recessive 2 29 6
Neuronopathy, Distal Hereditary Motor, Jerash Type 57 75
Hereditary Motor Neuropathy, Jerash Type 53 75
Motor Neuropathy, Distal, Jerash Type 53 75
Dhmnj 12 59
Atrophy, Muscular, Spinal, Distal, Autosomal Recessive, Type 2 40
Autosomal Recessive Distal Spinal Muscular Atrophy Type 2 59
Neuropathy, Distal Hereditary Motor, Jerash Type; Hmnj 57
Distal Spinal Muscular Atrophy, Autosomal Recessive, 2 75
Autosomal Recessive Distal Spinal Muscular Atrophy 2 12
Distal Hereditary Motor Neuropathy, Jerash Type 59
Distal Hereditary Motor Neuropathy Jerash Type 12
Spinal Muscular Atrophy Jerash Type 12
Mndj 53

Characteristics:

Orphanet epidemiological data:

59
distal hereditary motor neuropathy, jerash type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
age of onset 6-12 years
lower limb involvement precedes upper limb involvement
progressive disorder that may become stable in young adulthood
one chinese family with a confirmed mutation has been reported (last curated august 2015)


HPO:

32
spinal muscular atrophy, distal, autosomal recessive, 2:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 605726
Disease Ontology 12 DOID:0111065
Orphanet 59 ORPHA139552
UMLS via Orphanet 74 C1854023
ICD10 via Orphanet 34 G12.2
MedGen 42 C1854023
UMLS 73 C1854023

Summaries for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 139552Disease definitionDistal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset).Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2, also known as spinal muscular atrophy, jerash type, is related to distal hereditary motor neuropathy, type ii. An important gene associated with Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 is SIGMAR1 (Sigma Non-Opioid Intracellular Receptor 1). Related phenotypes are babinski sign and pes cavus

Disease Ontology : 12 A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has material basis in homozygous mutation in the SIGMAR1 gene on chromosome 9p13.

OMIM : 57 Distal spinal muscular atrophy-2 is an autosomal recessive neuromuscular disorder characterized by onset of distal muscle weakness and wasting affecting the lower and upper limbs in the first decade; there is no sensory involvement (summary by Li et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of DSMA, see HMN1 (182960). (605726)

UniProtKB/Swiss-Prot : 75 Distal spinal muscular atrophy, autosomal recessive, 2: An autosomal recessive neuromuscular disorder characterized by onset of distal muscle weakness and wasting affecting the lower and upper limbs in the first decade. There is no sensory involvement.

Related Diseases for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2

Diseases in the Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 family:

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5

Diseases related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 distal hereditary motor neuropathy, type ii 11.1

Symptoms & Phenotypes for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2

Symptoms via clinical synopsis from OMIM:

57
Skeletal Feet:
pes cavus
hammertoes
pes varus

Skeletal Hands:
claw hands (in some patients)

Neurologic Central Nervous System:
foot drop
distal limb weakness
reduced motor nerve conduction velocity
high-stepping gait
extensor plantar responses (early-on)
more
Muscle Soft Tissue:
distal muscle atrophy, upper and lower limbs
distal muscle weakness, upper and lower limbs
denervation seen on emg


Clinical features from OMIM:

605726

Human phenotypes related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 babinski sign 32 HP:0003487
2 pes cavus 32 HP:0001761
3 decreased motor nerve conduction velocity 32 HP:0003431
4 split hand 32 occasional (7.5%) HP:0001171
5 hyporeflexia 32 HP:0001265
6 foot dorsiflexor weakness 32 HP:0009027
7 hammertoe 32 HP:0001765
8 distal muscle weakness 32 HP:0002460
9 distal amyotrophy 32 HP:0003693
10 spinal muscular atrophy 32 HP:0007269

Drugs & Therapeutics for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2

Cochrane evidence based reviews: spinal muscular atrophy, jerash type

Genetic Tests for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2

Genetic tests related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2:

# Genetic test Affiliating Genes
1 Distal Spinal Muscular Atrophy, Autosomal Recessive 2 29 SIGMAR1

Anatomical Context for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2

Publications for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2

Variations for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2

ClinVar genetic disease variations for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2:

6 (show all 47)
# Gene Variation Type Significance SNP ID Assembly Location
1 SIGMAR1 NM_005866.3(SIGMAR1): c.151+1G> T single nucleotide variant Pathogenic rs796065352 GRCh38 Chromosome 9, 34637546: 34637546
2 SIGMAR1 NM_005866.3(SIGMAR1): c.151+1G> T single nucleotide variant Pathogenic rs796065352 GRCh37 Chromosome 9, 34637543: 34637543
3 SIGMAR1 NM_005866.3(SIGMAR1): c.545T> C (p.Leu182Pro) single nucleotide variant Uncertain significance rs781091660 GRCh37 Chromosome 9, 34635756: 34635756
4 SIGMAR1 NM_005866.3(SIGMAR1): c.545T> C (p.Leu182Pro) single nucleotide variant Uncertain significance rs781091660 GRCh38 Chromosome 9, 34635759: 34635759
5 SIGMAR1 NM_005866.3(SIGMAR1): c.463G> A (p.Gly155Arg) single nucleotide variant Uncertain significance rs200076129 GRCh38 Chromosome 9, 34635841: 34635841
6 SIGMAR1 NM_005866.3(SIGMAR1): c.463G> A (p.Gly155Arg) single nucleotide variant Uncertain significance rs200076129 GRCh37 Chromosome 9, 34635838: 34635838
7 SIGMAR1 NM_005866.3(SIGMAR1): c.240G> A (p.Gln80=) single nucleotide variant Benign rs10972178 GRCh38 Chromosome 9, 34637332: 34637332
8 SIGMAR1 NM_005866.3(SIGMAR1): c.240G> A (p.Gln80=) single nucleotide variant Benign rs10972178 GRCh37 Chromosome 9, 34637329: 34637329
9 SIGMAR1 NM_005866.3(SIGMAR1): c.6G> A (p.Gln2=) single nucleotide variant Benign rs541251697 GRCh38 Chromosome 9, 34637692: 34637692
10 SIGMAR1 NM_005866.3(SIGMAR1): c.6G> A (p.Gln2=) single nucleotide variant Benign rs541251697 GRCh37 Chromosome 9, 34637689: 34637689
11 SIGMAR1 NM_005866.3(SIGMAR1): c.153G> A (p.Gly51=) single nucleotide variant Benign rs12115733 GRCh38 Chromosome 9, 34637419: 34637419
12 SIGMAR1 NM_005866.3(SIGMAR1): c.153G> A (p.Gly51=) single nucleotide variant Benign rs12115733 GRCh37 Chromosome 9, 34637416: 34637416
13 SIGMAR1 NM_005866.3(SIGMAR1): c.622C> T (p.Arg208Trp) single nucleotide variant Benign rs11559048 GRCh37 Chromosome 9, 34635679: 34635679
14 SIGMAR1 NM_005866.3(SIGMAR1): c.622C> T (p.Arg208Trp) single nucleotide variant Benign rs11559048 GRCh38 Chromosome 9, 34635682: 34635682
15 SIGMAR1 NM_005866.3(SIGMAR1): c.552C> T (p.Phe184=) single nucleotide variant Benign rs61739588 GRCh37 Chromosome 9, 34635749: 34635749
16 SIGMAR1 NM_005866.3(SIGMAR1): c.552C> T (p.Phe184=) single nucleotide variant Benign rs61739588 GRCh38 Chromosome 9, 34635752: 34635752
17 SIGMAR1 NM_005866.3(SIGMAR1): c.11C> T (p.Ala4Val) single nucleotide variant Uncertain significance rs367968662 GRCh38 Chromosome 9, 34637687: 34637687
18 SIGMAR1 NM_005866.3(SIGMAR1): c.11C> T (p.Ala4Val) single nucleotide variant Uncertain significance rs367968662 GRCh37 Chromosome 9, 34637684: 34637684
19 SIGMAR1 NM_005866.3(SIGMAR1): c.453G> A (p.Thr151=) single nucleotide variant Likely benign rs751571040 GRCh38 Chromosome 9, 34635851: 34635851
20 SIGMAR1 NM_005866.3(SIGMAR1): c.453G> A (p.Thr151=) single nucleotide variant Likely benign rs751571040 GRCh37 Chromosome 9, 34635848: 34635848
21 SIGMAR1 NM_005866.3(SIGMAR1): c.339C> T (p.Ser113=) single nucleotide variant Likely benign rs754738945 GRCh38 Chromosome 9, 34637233: 34637233
22 SIGMAR1 NM_005866.3(SIGMAR1): c.339C> T (p.Ser113=) single nucleotide variant Likely benign rs754738945 GRCh37 Chromosome 9, 34637230: 34637230
23 SIGMAR1 NM_005866.3(SIGMAR1): c.92G> A (p.Gly31Asp) single nucleotide variant Uncertain significance rs532632647 GRCh38 Chromosome 9, 34637606: 34637606
24 SIGMAR1 NM_005866.3(SIGMAR1): c.92G> A (p.Gly31Asp) single nucleotide variant Uncertain significance rs532632647 GRCh37 Chromosome 9, 34637603: 34637603
25 SIGMAR1 NM_005866.3(SIGMAR1): c.344G> T (p.Gly115Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 34637228: 34637228
26 SIGMAR1 NM_005866.3(SIGMAR1): c.344G> T (p.Gly115Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 34637225: 34637225
27 SIGMAR1 NM_005866.3(SIGMAR1): c.303C> T (p.Ser101=) single nucleotide variant Likely benign rs59277791 GRCh37 Chromosome 9, 34637266: 34637266
28 SIGMAR1 NM_005866.3(SIGMAR1): c.303C> T (p.Ser101=) single nucleotide variant Likely benign rs59277791 GRCh38 Chromosome 9, 34637269: 34637269
29 covers 50 genes, none of which curated to show dosage sensitivity NC_000009.11: g.(?_34458984)_(36277059_?)dup duplication Uncertain significance GRCh37 Chromosome 9, 34458984: 36277059
30 SIGMAR1 NM_005866.3(SIGMAR1): c.194T> A (p.Leu65Gln) single nucleotide variant Uncertain significance rs140376902 GRCh37 Chromosome 9, 34637375: 34637375
31 SIGMAR1 NM_005866.3(SIGMAR1): c.194T> A (p.Leu65Gln) single nucleotide variant Uncertain significance rs140376902 GRCh38 Chromosome 9, 34637378: 34637378
32 SIGMAR1 NM_005866.3(SIGMAR1): c.79T> A (p.Trp27Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 34637616: 34637616
33 SIGMAR1 NM_005866.3(SIGMAR1): c.79T> A (p.Trp27Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 34637619: 34637619
34 SIGMAR1 NM_005866.3(SIGMAR1): c.632G> A (p.Arg211Gln) single nucleotide variant Uncertain significance rs192644838 GRCh37 Chromosome 9, 34635669: 34635669
35 SIGMAR1 NM_005866.3(SIGMAR1): c.632G> A (p.Arg211Gln) single nucleotide variant Uncertain significance rs192644838 GRCh38 Chromosome 9, 34635672: 34635672
36 SIGMAR1 NM_005866.3(SIGMAR1): c.61G> C (p.Val21Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 34637634: 34637634
37 SIGMAR1 NM_005866.3(SIGMAR1): c.61G> C (p.Val21Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 34637637: 34637637
38 SIGMAR1 NM_005866.3(SIGMAR1): c.446-5C> G single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 34635863: 34635863
39 SIGMAR1 NM_005866.3(SIGMAR1): c.446-5C> G single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 34635860: 34635860
40 SIGMAR1 NM_005866.3(SIGMAR1): c.247T> C (p.Phe83Leu) single nucleotide variant Uncertain significance rs773344340 GRCh38 Chromosome 9, 34637325: 34637325
41 SIGMAR1 NM_005866.3(SIGMAR1): c.247T> C (p.Phe83Leu) single nucleotide variant Uncertain significance rs773344340 GRCh37 Chromosome 9, 34637322: 34637322
42 SIGMAR1 NM_005866.3(SIGMAR1): c.13delG (p.Val5Trpfs) deletion Uncertain significance GRCh38 Chromosome 9, 34637685: 34637685
43 SIGMAR1 NM_005866.3(SIGMAR1): c.13delG (p.Val5Trpfs) deletion Uncertain significance GRCh37 Chromosome 9, 34637682: 34637682
44 SIGMAR1 NM_005866.3(SIGMAR1): c.623G> A (p.Arg208Gln) single nucleotide variant Uncertain significance rs541996857 GRCh37 Chromosome 9, 34635678: 34635678
45 SIGMAR1 NM_005866.3(SIGMAR1): c.623G> A (p.Arg208Gln) single nucleotide variant Uncertain significance rs541996857 GRCh38 Chromosome 9, 34635681: 34635681
46 SIGMAR1 NM_005866.3(SIGMAR1): c.298C> G (p.Leu100Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 34637271: 34637271
47 SIGMAR1 NM_005866.3(SIGMAR1): c.298C> G (p.Leu100Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 34637274: 34637274

Expression for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2

Search GEO for disease gene expression data for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2.

Pathways for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2

GO Terms for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2

Sources for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2

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