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 58
Spinal Muscular Atrophy, Jerash Type 58 54 76 45 74
Neuropathy, Distal Hereditary Motor, Jerash Type 58 54 76 13
Dsma2 58 12 76
Hmnj 58 54 76
Distal Spinal Muscular Atrophy, Autosomal Recessive 2 30 6
Neuronopathy, Distal Hereditary Motor, Jerash Type 58 76
Hereditary Motor Neuropathy, Jerash Type 54 76
Motor Neuropathy, Distal, Jerash Type 54 76
Dhmnj 12 60
Atrophy, Muscular, Spinal, Distal, Autosomal Recessive, Type 2 41
Autosomal Recessive Distal Spinal Muscular Atrophy Type 2 60
Neuropathy, Distal Hereditary Motor, Jerash Type; Hmnj 58
Distal Spinal Muscular Atrophy, Autosomal Recessive, 2 76
Autosomal Recessive Distal Spinal Muscular Atrophy 2 12
Distal Hereditary Motor Neuropathy, Jerash Type 60
Distal Hereditary Motor Neuropathy Jerash Type 12
Spinal Muscular Atrophy Jerash Type 12
Mndj 54

Characteristics:

Orphanet epidemiological data:

60
distal hereditary motor neuropathy, jerash type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

58
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:

33
spinal muscular atrophy, distal, autosomal recessive, 2:
Onset and clinical course progressive
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111065
OMIM 58 605726
ICD10 via Orphanet 35 G12.2
UMLS via Orphanet 75 C1854023
Orphanet 60 ORPHA139552
MedGen 43 C1854023
UMLS 74 C1854023

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

NIH Rare Diseases : 54 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 split hand and babinski sign

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 : 58 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 : 76 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

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

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 split hand 33 occasional (7.5%) HP:0001171
2 babinski sign 33 HP:0003487
3 pes cavus 33 HP:0001761
4 decreased motor nerve conduction velocity 33 HP:0003431
5 hyporeflexia 33 HP:0001265
6 foot dorsiflexor weakness 33 HP:0009027
7 hammertoe 33 HP:0001765
8 distal muscle weakness 33 HP:0002460
9 distal amyotrophy 33 HP:0003693
10 spinal muscular atrophy 33 HP:0007269

Symptoms via clinical synopsis from OMIM:

58
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

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 30 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 49)
# 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 GRCh37 Chromosome 9, 34635838: 34635838
6 SIGMAR1 NM_005866.3(SIGMAR1): c.463G> A (p.Gly155Arg) single nucleotide variant Uncertain significance rs200076129 GRCh38 Chromosome 9, 34635841: 34635841
7 SIGMAR1 NM_005866.3(SIGMAR1): c.240G> A (p.Gln80=) single nucleotide variant Benign rs10972178 GRCh37 Chromosome 9, 34637329: 34637329
8 SIGMAR1 NM_005866.3(SIGMAR1): c.240G> A (p.Gln80=) single nucleotide variant Benign rs10972178 GRCh38 Chromosome 9, 34637332: 34637332
9 SIGMAR1 NM_005866.3(SIGMAR1): c.6G> A (p.Gln2=) single nucleotide variant Benign rs541251697 GRCh37 Chromosome 9, 34637689: 34637689
10 SIGMAR1 NM_005866.3(SIGMAR1): c.6G> A (p.Gln2=) single nucleotide variant Benign rs541251697 GRCh38 Chromosome 9, 34637692: 34637692
11 SIGMAR1 NM_005866.3(SIGMAR1): c.153G> A (p.Gly51=) single nucleotide variant Benign rs12115733 GRCh37 Chromosome 9, 34637416: 34637416
12 SIGMAR1 NM_005866.3(SIGMAR1): c.153G> A (p.Gly51=) single nucleotide variant Benign rs12115733 GRCh38 Chromosome 9, 34637419: 34637419
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 GRCh37 Chromosome 9, 34637684: 34637684
18 SIGMAR1 NM_005866.3(SIGMAR1): c.11C> T (p.Ala4Val) single nucleotide variant Uncertain significance rs367968662 GRCh38 Chromosome 9, 34637687: 34637687
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 rs1241574813 GRCh38 Chromosome 9, 34637228: 34637228
26 SIGMAR1 NM_005866.3(SIGMAR1): c.344G> T (p.Gly115Val) single nucleotide variant Uncertain significance rs1241574813 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 GRCh37 Chromosome 9, 34637375: 34637375
31 SIGMAR1 NM_005866.3(SIGMAR1): c.194T> A (p.Leu65Gln) single nucleotide variant Uncertain significance 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 GRCh37 Chromosome 9, 34635669: 34635669
35 SIGMAR1 NM_005866.3(SIGMAR1): c.632G> A (p.Arg211Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 34635672: 34635672
36 SIGMAR1 NM_005866.3(SIGMAR1): c.61G> C (p.Val21Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 34637637: 34637637
37 SIGMAR1 NM_005866.3(SIGMAR1): c.61G> C (p.Val21Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 34637634: 34637634
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 GRCh38 Chromosome 9, 34637325: 34637325
41 SIGMAR1 NM_005866.3(SIGMAR1): c.247T> C (p.Phe83Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 34637322: 34637322
42 SIGMAR1 NM_005866.3(SIGMAR1): c.13delG (p.Val5Trpfs) deletion Uncertain significance GRCh37 Chromosome 9, 34637682: 34637682
43 SIGMAR1 NM_005866.3(SIGMAR1): c.13delG (p.Val5Trpfs) deletion Uncertain significance GRCh38 Chromosome 9, 34637685: 34637685
44 SIGMAR1 NM_005866.3(SIGMAR1): c.623G> A (p.Arg208Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 34635678: 34635678
45 SIGMAR1 NM_005866.3(SIGMAR1): c.623G> A (p.Arg208Gln) single nucleotide variant Uncertain significance 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
48 SIGMAR1 NM_005866.4(SIGMAR1): c.238C> T (p.Gln80Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 34637334: 34637334
49 SIGMAR1 NM_005866.4(SIGMAR1): c.238C> T (p.Gln80Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 34637331: 34637331

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

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

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

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