DSMA5
MCID: SPN255
MIFTS: 21

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 (DSMA5)

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

Aliases & Classifications for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5

MalaCards integrated aliases for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5:

Name: Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 58 30 13 6 74
Dsma5 58 60 76
Atrophy, Muscular, Spinal, Distal, Autosomal Recessive, Type 5 41
Autosomal Recessive Distal Spinal Muscular Atrophy Type 5 60
Distal Spinal Muscular Atrophy, Autosomal Recessive, 5 76
Young Adult-Onset Distal Hereditary Motor Neuropathy 60
Young Adult-Onset Dhmn 60

Characteristics:

Orphanet epidemiological data:

60
young adult-onset distal hereditary motor neuropathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset in young adulthood (range 18 to 23 years)
three unrelated families have been reported (last curated july 2016)
two of 3 patients became wheelchair-bound


HPO:

33
spinal muscular atrophy, distal, autosomal recessive, 5:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

OMIM 58 614881
MeSH 45 D009134
ICD10 via Orphanet 35 G12.2
Orphanet 60 ORPHA314485
MedGen 43 C3553989
UMLS 74 C3553989

Summaries for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5

OMIM : 58 DSMA5 is an autosomal recessive neurologic disorder characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes due to impaired function of motor nerves. Sensation and cognition are not impaired (summary by Blumen et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of distal SMA, see HMN1 (182960). (614881)

MalaCards based summary : Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5, is also known as dsma5. An important gene associated with Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 is DNAJB2 (DnaJ Heat Shock Protein Family (Hsp40) Member B2). Affiliated tissues include skeletal muscle, and related phenotypes are dysphonia and pes cavus

UniProtKB/Swiss-Prot : 76 Distal spinal muscular atrophy, autosomal recessive, 5: An autosomal recessive neurologic disorder characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes due to impaired function of motor nerves. Sensation and cognition are not impaired.

Related Diseases for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5

Symptoms & Phenotypes for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5

Human phenotypes related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 dysphonia 33 occasional (7.5%) HP:0001618
2 pes cavus 33 occasional (7.5%) HP:0001761
3 gait disturbance 33 HP:0001288
4 skeletal muscle atrophy 33 HP:0003202
5 areflexia 33 HP:0001284
6 foot dorsiflexor weakness 33 HP:0009027
7 distal sensory impairment 33 HP:0002936
8 spinal muscular atrophy 33 HP:0007269

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
foot drop
impaired gait

Neurologic Peripheral Nervous System:
distal sensory impairment (1 family)
areflexia of the upper and lower limbs
decreased amplitudes of motor nerves in the lower limbs seen on nerve conduction studies
axonal sensorimotor neuropathy (1 family)

Voice:
dysphonia, mild (1 patient)

Skeletal Feet:
pes cavus (1 patient)

Muscle Soft Tissue:
distal muscle atrophy, lower limbs more severely affected than upper limbs
distal muscle weakness, lower limbs more severely affected than upper limbs
toe and foot dorsiflexor weakness
proximal muscle weakness, lower limbs, mild

Clinical features from OMIM:

614881

Drugs & Therapeutics for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5

Genetic Tests for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5

Genetic tests related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5:

# Genetic test Affiliating Genes
1 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 30 DNAJB2

Anatomical Context for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5

MalaCards organs/tissues related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5:

42
Skeletal Muscle

Publications for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5

Variations for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5

UniProtKB/Swiss-Prot genetic disease variations for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5:

76
# Symbol AA change Variation ID SNP ID
1 DNAJB2 p.Tyr5Cys VAR_073286 rs730882140

ClinVar genetic disease variations for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5:

6 (show top 50) (show all 70)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAJB2 NM_001039550.1(DNAJB2): c.229+1G> A single nucleotide variant Pathogenic rs730882139 GRCh37 Chromosome 2, 220146494: 220146494
2 DNAJB2 NM_001039550.1(DNAJB2): c.229+1G> A single nucleotide variant Pathogenic rs730882139 GRCh38 Chromosome 2, 219281772: 219281772
3 DNAJB2 NM_001039550.1(DNAJB2): c.14A> G (p.Tyr5Cys) single nucleotide variant Pathogenic rs730882140 GRCh37 Chromosome 2, 220144569: 220144569
4 DNAJB2 NM_001039550.1(DNAJB2): c.14A> G (p.Tyr5Cys) single nucleotide variant Pathogenic rs730882140 GRCh38 Chromosome 2, 219279847: 219279847
5 DNAJB2 NM_001039550.1(DNAJB2): c.352+1G> A single nucleotide variant Pathogenic rs756614404 GRCh37 Chromosome 2, 220146784: 220146784
6 DNAJB2 NM_001039550.1(DNAJB2): c.352+1G> A single nucleotide variant Pathogenic rs756614404 GRCh38 Chromosome 2, 219282062: 219282062
7 DNAJB2 DNAJB2, IVS5DS, G-A, +1 single nucleotide variant Pathogenic
8 DNAJB2 NM_001039550.1(DNAJB2): c.230-2A> G single nucleotide variant Likely pathogenic rs369661561 GRCh38 Chromosome 2, 219281937: 219281937
9 DNAJB2 NM_001039550.1(DNAJB2): c.230-2A> G single nucleotide variant Likely pathogenic rs369661561 GRCh37 Chromosome 2, 220146659: 220146659
10 DNAJB2 NM_001039550.1(DNAJB2): c.309delC (p.Arg104Glyfs) deletion Likely pathogenic rs879253868 GRCh38 Chromosome 2, 219282018: 219282018
11 DNAJB2 NM_001039550.1(DNAJB2): c.309delC (p.Arg104Glyfs) deletion Likely pathogenic rs879253868 GRCh37 Chromosome 2, 220146740: 220146740
12 DNAJB2 NM_001039550.1(DNAJB2): c.311G> A (p.Arg104Gln) single nucleotide variant Uncertain significance rs145429721 GRCh37 Chromosome 2, 220146742: 220146742
13 DNAJB2 NM_001039550.1(DNAJB2): c.311G> A (p.Arg104Gln) single nucleotide variant Uncertain significance rs145429721 GRCh38 Chromosome 2, 219282020: 219282020
14 DNAJB2 NM_001039550.1(DNAJB2): c.664G> A (p.Glu222Lys) single nucleotide variant Uncertain significance rs201861589 GRCh38 Chromosome 2, 219284676: 219284676
15 DNAJB2 NM_001039550.1(DNAJB2): c.664G> A (p.Glu222Lys) single nucleotide variant Uncertain significance rs201861589 GRCh37 Chromosome 2, 220149398: 220149398
16 DNAJB2 NM_001039550.1(DNAJB2): c.620-1G> A single nucleotide variant Pathogenic rs764813110 GRCh37 Chromosome 2, 220149353: 220149353
17 DNAJB2 NM_001039550.1(DNAJB2): c.620-1G> A single nucleotide variant Pathogenic rs764813110 GRCh38 Chromosome 2, 219284631: 219284631
18 DNAJB2 NG_029553.1: g.3620_7471del3852 deletion Pathogenic GRCh38 Chromosome 2, 219277937: 219281788
19 DNAJB2 NG_029553.1: g.3620_7471del3852 deletion Pathogenic GRCh37 Chromosome 2, 220142659: 220146510
20 DNAJB2 NM_001039550.1(DNAJB2): c.808G> C (p.Gly270Arg) single nucleotide variant Benign rs34127289 GRCh37 Chromosome 2, 220149542: 220149542
21 DNAJB2 NM_001039550.1(DNAJB2): c.808G> C (p.Gly270Arg) single nucleotide variant Benign rs34127289 GRCh38 Chromosome 2, 219284820: 219284820
22 DNAJB2 NM_001039550.1(DNAJB2): c.787C> T (p.Leu263=) single nucleotide variant Likely benign rs140805390 GRCh37 Chromosome 2, 220149521: 220149521
23 DNAJB2 NM_001039550.1(DNAJB2): c.787C> T (p.Leu263=) single nucleotide variant Likely benign rs140805390 GRCh38 Chromosome 2, 219284799: 219284799
24 DNAJB2 NM_001039550.1(DNAJB2): c.195C> T (p.Tyr65=) single nucleotide variant Likely benign rs116719245 GRCh37 Chromosome 2, 220146459: 220146459
25 DNAJB2 NM_001039550.1(DNAJB2): c.195C> T (p.Tyr65=) single nucleotide variant Likely benign rs116719245 GRCh38 Chromosome 2, 219281737: 219281737
26 DNAJB2 NM_001039550.1(DNAJB2): c.703C> G (p.Gln235Glu) single nucleotide variant Likely benign rs148615702 GRCh37 Chromosome 2, 220149437: 220149437
27 DNAJB2 NM_001039550.1(DNAJB2): c.703C> G (p.Gln235Glu) single nucleotide variant Likely benign rs148615702 GRCh38 Chromosome 2, 219284715: 219284715
28 DNAJB2 NC_000002.12: g.(?_219285984)_(219426010_?)dup duplication Uncertain significance GRCh38 Chromosome 2, 219285984: 219426010
29 DNAJB2 NM_001039550.1(DNAJB2): c.298G> A (p.Glu100Lys) single nucleotide variant Benign rs139406455 GRCh37 Chromosome 2, 220146729: 220146729
30 DNAJB2 NM_001039550.1(DNAJB2): c.298G> A (p.Glu100Lys) single nucleotide variant Benign rs139406455 GRCh38 Chromosome 2, 219282007: 219282007
31 DNAJB2 NM_001039550.1(DNAJB2): c.446-8G> A single nucleotide variant Benign rs3821039 GRCh37 Chromosome 2, 220147847: 220147847
32 DNAJB2 NM_001039550.1(DNAJB2): c.446-8G> A single nucleotide variant Benign rs3821039 GRCh38 Chromosome 2, 219283125: 219283125
33 DNAJB2 NM_001039550.1(DNAJB2): c.571C> T (p.Arg191Trp) single nucleotide variant Uncertain significance rs776893562 GRCh37 Chromosome 2, 220148163: 220148163
34 DNAJB2 NM_001039550.1(DNAJB2): c.571C> T (p.Arg191Trp) single nucleotide variant Uncertain significance rs776893562 GRCh38 Chromosome 2, 219283441: 219283441
35 DNAJB2 NM_001039550.1(DNAJB2): c.730C> T (p.Pro244Ser) single nucleotide variant Uncertain significance rs749436734 GRCh37 Chromosome 2, 220149464: 220149464
36 DNAJB2 NM_001039550.1(DNAJB2): c.730C> T (p.Pro244Ser) single nucleotide variant Uncertain significance rs749436734 GRCh38 Chromosome 2, 219284742: 219284742
37 DNAJB2 NM_001039550.1(DNAJB2): c.147G> A (p.Val49=) single nucleotide variant Likely benign rs1213188397 GRCh38 Chromosome 2, 219280659: 219280659
38 DNAJB2 NM_001039550.1(DNAJB2): c.147G> A (p.Val49=) single nucleotide variant Likely benign rs1213188397 GRCh37 Chromosome 2, 220145381: 220145381
39 DNAJB2 NM_001039550.1(DNAJB2): c.226A> C (p.Thr76Pro) single nucleotide variant Uncertain significance rs1247249384 GRCh38 Chromosome 2, 219281768: 219281768
40 DNAJB2 NM_001039550.1(DNAJB2): c.226A> C (p.Thr76Pro) single nucleotide variant Uncertain significance rs1247249384 GRCh37 Chromosome 2, 220146490: 220146490
41 DNAJB2 NM_001039550.1(DNAJB2): c.245G> C (p.Arg82Pro) single nucleotide variant Uncertain significance rs576205050 GRCh38 Chromosome 2, 219281954: 219281954
42 DNAJB2 NM_001039550.1(DNAJB2): c.245G> C (p.Arg82Pro) single nucleotide variant Uncertain significance rs576205050 GRCh37 Chromosome 2, 220146676: 220146676
43 DNAJB2 NM_001039550.1(DNAJB2): c.445+8C> T single nucleotide variant Likely benign rs1553575245 GRCh38 Chromosome 2, 219282937: 219282937
44 DNAJB2 NM_001039550.1(DNAJB2): c.445+8C> T single nucleotide variant Likely benign rs1553575245 GRCh37 Chromosome 2, 220147659: 220147659
45 DNAJB2 NM_001039550.1(DNAJB2): c.823+7G> A single nucleotide variant Likely benign rs778963579 GRCh38 Chromosome 2, 219284842: 219284842
46 DNAJB2 NM_001039550.1(DNAJB2): c.823+7G> A single nucleotide variant Likely benign rs778963579 GRCh37 Chromosome 2, 220149564: 220149564
47 DNAJB2 NM_001039550.1(DNAJB2): c.184C> T (p.Arg62Trp) single nucleotide variant Uncertain significance rs747378005 GRCh38 Chromosome 2, 219281726: 219281726
48 DNAJB2 NM_001039550.1(DNAJB2): c.184C> T (p.Arg62Trp) single nucleotide variant Uncertain significance rs747378005 GRCh37 Chromosome 2, 220146448: 220146448
49 DNAJB2 NM_001039550.1(DNAJB2): c.249A> G (p.Ala83=) single nucleotide variant Likely benign rs576058376 GRCh38 Chromosome 2, 219281958: 219281958
50 DNAJB2 NM_001039550.1(DNAJB2): c.249A> G (p.Ala83=) single nucleotide variant Likely benign rs576058376 GRCh37 Chromosome 2, 220146680: 220146680

Expression for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5

Search GEO for disease gene expression data for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5.

Pathways for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5

GO Terms for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5

Sources for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....