DSMA5
MCID: SPN255
MIFTS: 27

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 57 29 13 6 70
Dsma5 57 58 72
Atrophy, Muscular, Spinal, Distal, Autosomal Recessive, Type 5 39
Autosomal Recessive Distal Spinal Muscular Atrophy Type 5 58
Distal Spinal Muscular Atrophy, Autosomal Recessive, 5 72
Young Adult-Onset Distal Hereditary Motor Neuropathy 58
Young Adult-Onset Dhmn 58

Characteristics:

Orphanet epidemiological data:

58
young adult-onset distal hereditary motor neuropathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

57 (Updated 20-May-2021)
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:

31
spinal muscular atrophy, distal, autosomal recessive, 5:
Inheritance autosomal recessive inheritance
Onset and clinical course slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 614881
MeSH 44 D009134
ICD10 via Orphanet 33 G12.2
Orphanet 58 ORPHA314485
MedGen 41 C3553989
UMLS 70 C3553989

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

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5, also known as dsma5, is related to neuronopathy, distal hereditary motor, type va. 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 : 72 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

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, 5 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 neuronopathy, distal hereditary motor, type va 11.0

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

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

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 dysphonia 31 occasional (7.5%) HP:0001618
2 pes cavus 31 occasional (7.5%) HP:0001761
3 gait disturbance 31 HP:0001288
4 skeletal muscle atrophy 31 HP:0003202
5 areflexia 31 HP:0001284
6 distal sensory impairment 31 HP:0002936
7 foot dorsiflexor weakness 31 HP:0009027
8 spinal muscular atrophy 31 HP:0007269

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 29 DNAJB2

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

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

40
Skeletal Muscle

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

Articles related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5:

# Title Authors PMID Year
1
HSJ1-related hereditary neuropathies: novel mutations and extended clinical spectrum. 57 6
25274842 2014
2
Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges. 6 57
24627108 2014
3
A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation. 6 57
22522442 2012
4
Phenotype and natural history of inherited neuropathies caused by HSJ1 c.352+1G>A mutation. 6
27083531 2016
5
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 6
26257172 2015

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

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

6 (show top 50) (show all 90)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNAJB2 NM_006736.6(DNAJB2):c.394C>T (p.Arg132Ter) SNV Pathogenic 864789 GRCh37: 2:220147600-220147600
GRCh38: 2:219282878-219282878
2 DNAJB2 DNAJB2, IVS5DS, G-A, +1 SNV Pathogenic 39697 GRCh37:
GRCh38:
3 DNAJB2 NM_006736.6(DNAJB2):c.620-1G>A SNV Pathogenic 246691 rs764813110 GRCh37: 2:220149353-220149353
GRCh38: 2:219284631-219284631
4 DNAJB2 NM_001039550.2(DNAJB2):c.0_229+18del Deletion Pathogenic 254212 GRCh37: 2:220142659-220146510
GRCh38: 2:219277937-219281788
5 DNAJB2 NM_006736.6(DNAJB2):c.229+1G>A SNV Pathogenic 183041 rs730882139 GRCh37: 2:220146494-220146494
GRCh38: 2:219281772-219281772
6 DNAJB2 NM_006736.6(DNAJB2):c.352+1G>A SNV Pathogenic 217886 rs756614404 GRCh37: 2:220146784-220146784
GRCh38: 2:219282062-219282062
7 DNAJB2 NM_006736.6(DNAJB2):c.89G>A (p.Trp30Ter) SNV Pathogenic 856608 GRCh37: 2:220145323-220145323
GRCh38: 2:219280601-219280601
8 DNAJB2 NM_006736.6(DNAJB2):c.14A>G (p.Tyr5Cys) SNV Likely pathogenic 183042 rs730882140 GRCh37: 2:220144569-220144569
GRCh38: 2:219279847-219279847
9 DNAJB2 NM_006736.6(DNAJB2):c.757G>A (p.Glu253Lys) SNV Likely pathogenic 873313 GRCh37: 2:220149491-220149491
GRCh38: 2:219284769-219284769
10 DNAJB2 NM_006736.6(DNAJB2):c.230-2A>G SNV Likely pathogenic 234675 rs369661561 GRCh37: 2:220146659-220146659
GRCh38: 2:219281937-219281937
11 DNAJB2 NM_006736.6(DNAJB2):c.310del (p.Arg104fs) Deletion Likely pathogenic 243085 rs879253868 GRCh37: 2:220146740-220146740
GRCh38: 2:219282018-219282018
12 DNAJB2 NM_006736.6(DNAJB2):c.446-2A>G SNV Likely pathogenic 623377 rs758322672 GRCh37: 2:220147853-220147853
GRCh38: 2:219283131-219283131
13 DNAJB2 NM_006736.6(DNAJB2):c.175+2T>A SNV Likely pathogenic 652811 rs562669797 GRCh37: 2:220145411-220145411
GRCh38: 2:219280689-219280689
14 DNAJB2 NM_006736.6(DNAJB2):c.555G>A (p.Met185Ile) SNV Uncertain significance 655614 rs1574901375 GRCh37: 2:220148147-220148147
GRCh38: 2:219283425-219283425
15 DNAJB2 NM_006736.6(DNAJB2):c.323G>C (p.Gly108Ala) SNV Uncertain significance 657413 rs763591754 GRCh37: 2:220146754-220146754
GRCh38: 2:219282032-219282032
16 DNAJB2 NM_006736.6(DNAJB2):c.190A>G (p.Ile64Val) SNV Uncertain significance 661304 rs1165402332 GRCh37: 2:220146454-220146454
GRCh38: 2:219281732-219281732
17 DNAJB2 NM_006736.6(DNAJB2):c.43T>C (p.Ser15Pro) SNV Uncertain significance 835252 GRCh37: 2:220144598-220144598
GRCh38: 2:219279876-219279876
18 DNAJB2 NM_006736.6(DNAJB2):c.659G>A (p.Arg220His) SNV Uncertain significance 933610 GRCh37: 2:220149393-220149393
GRCh38: 2:219284671-219284671
19 DNAJB2 NM_006736.6(DNAJB2):c.730C>T (p.Pro244Ser) SNV Uncertain significance 473305 rs749436734 GRCh37: 2:220149464-220149464
GRCh38: 2:219284742-219284742
20 overlap with 7 genes Duplication Uncertain significance 473301 GRCh37:
GRCh38: 2:219285984-219426010
21 DNAJB2 NM_006736.6(DNAJB2):c.386G>A (p.Arg129Gln) SNV Uncertain significance 567772 rs778575500 GRCh37: 2:220147592-220147592
GRCh38: 2:219282870-219282870
22 DNAJB2 NM_006736.6(DNAJB2):c.524A>G (p.Gln175Arg) SNV Uncertain significance 580253 rs1559286796 GRCh37: 2:220147933-220147933
GRCh38: 2:219283211-219283211
23 DNAJB2 NM_006736.6(DNAJB2):c.71G>A (p.Arg24Gln) SNV Uncertain significance 581882 rs780839621 GRCh37: 2:220145305-220145305
GRCh38: 2:219280583-219280583
24 DNAJB2 NM_006736.6(DNAJB2):c.311G>A (p.Arg104Gln) SNV Uncertain significance 245771 rs145429721 GRCh37: 2:220146742-220146742
GRCh38: 2:219282020-219282020
25 DNAJB2 NM_006736.6(DNAJB2):c.664G>A (p.Glu222Lys) SNV Uncertain significance 246601 rs201861589 GRCh37: 2:220149398-220149398
GRCh38: 2:219284676-219284676
26 DNAJB2 NM_006736.6(DNAJB2):c.73C>T (p.Arg25Cys) SNV Uncertain significance 429350 rs750175376 GRCh37: 2:220145307-220145307
GRCh38: 2:219280585-219280585
27 DNAJB2 NM_006736.6(DNAJB2):c.245G>C (p.Arg82Pro) SNV Uncertain significance 540529 rs576205050 GRCh37: 2:220146676-220146676
GRCh38: 2:219281954-219281954
28 DNAJB2 NM_006736.6(DNAJB2):c.757G>C (p.Glu253Gln) SNV Uncertain significance 643766 rs1018405924 GRCh37: 2:220149491-220149491
GRCh38: 2:219284769-219284769
29 DNAJB2 NM_006736.6(DNAJB2):c.199C>T (p.Arg67Cys) SNV Uncertain significance 843078 GRCh37: 2:220146463-220146463
GRCh38: 2:219281741-219281741
30 DNAJB2 NM_006736.6(DNAJB2):c.473G>T (p.Ser158Ile) SNV Uncertain significance 234683 rs780605624 GRCh37: 2:220147882-220147882
GRCh38: 2:219283160-219283160
31 DNAJB2 NM_006736.6(DNAJB2):c.199C>G (p.Arg67Gly) SNV Uncertain significance 947708 GRCh37: 2:220146463-220146463
GRCh38: 2:219281741-219281741
32 DNAJB2 NM_006736.6(DNAJB2):c.245G>A (p.Arg82Gln) SNV Uncertain significance 960973 GRCh37: 2:220146676-220146676
GRCh38: 2:219281954-219281954
33 DNAJB2 NM_006736.6(DNAJB2):c.476C>G (p.Pro159Arg) SNV Uncertain significance 964628 GRCh37: 2:220147885-220147885
GRCh38: 2:219283163-219283163
34 DNAJB2 NM_006736.6(DNAJB2):c.208C>A (p.Arg70=) SNV Uncertain significance 967206 GRCh37: 2:220146472-220146472
GRCh38: 2:219281750-219281750
35 DNAJB2 NM_006736.6(DNAJB2):c.761A>G (p.Asp254Gly) SNV Uncertain significance 246213 rs770788678 GRCh37: 2:220149495-220149495
GRCh38: 2:219284773-219284773
36 DNAJB2 NM_006736.6(DNAJB2):c.244C>T (p.Arg82Trp) SNV Uncertain significance 424323 rs763649673 GRCh37: 2:220146675-220146675
GRCh38: 2:219281953-219281953
37 DNAJB2 NM_006736.6(DNAJB2):c.184C>T (p.Arg62Trp) SNV Uncertain significance 540531 rs747378005 GRCh37: 2:220146448-220146448
GRCh38: 2:219281726-219281726
38 DNAJB2 NM_006736.6(DNAJB2):c.529C>T (p.Arg177Cys) SNV Uncertain significance 569649 rs1415279774 GRCh37: 2:220147938-220147938
GRCh38: 2:219283216-219283216
39 DNAJB2 NM_006736.6(DNAJB2):c.65C>A (p.Ala22Glu) SNV Uncertain significance 582676 rs1357690630 GRCh37: 2:220144620-220144620
GRCh38: 2:219279898-219279898
40 DNAJB2 NM_006736.6(DNAJB2):c.754G>C (p.Asp252His) SNV Uncertain significance 645330 rs375536235 GRCh37: 2:220149488-220149488
GRCh38: 2:219284766-219284766
41 DNAJB2 NM_006736.6(DNAJB2):c.199C>A (p.Arg67Ser) SNV Uncertain significance 665770 rs140172586 GRCh37: 2:220146463-220146463
GRCh38: 2:219281741-219281741
42 DNAJB2 NM_006736.6(DNAJB2):c.829C>T (p.Arg277Trp) SNV Uncertain significance 849978 GRCh37: 2:220149563-220149563
GRCh38: 2:219284841-219284841
43 DNAJB2 NM_006736.6(DNAJB2):c.494G>A (p.Arg165His) SNV Uncertain significance 938141 GRCh37: 2:220147903-220147903
GRCh38: 2:219283181-219283181
44 DNAJB2 NM_006736.6(DNAJB2):c.70C>T (p.Arg24Trp) SNV Uncertain significance 944211 GRCh37: 2:220145304-220145304
GRCh38: 2:219280582-219280582
45 DNAJB2 NM_006736.6(DNAJB2):c.454T>C (p.Ser152Pro) SNV Uncertain significance 948188 GRCh37: 2:220147863-220147863
GRCh38: 2:219283141-219283141
46 DNAJB2 NM_006736.6(DNAJB2):c.411C>G (p.Phe137Leu) SNV Uncertain significance 1018274 GRCh37: 2:220147617-220147617
GRCh38: 2:219282895-219282895
47 DNAJB2 NM_006736.6(DNAJB2):c.825T>A (p.Gly275=) SNV Uncertain significance 1020335 GRCh37: 2:220149559-220149559
GRCh38: 2:219284837-219284837
48 DNAJB2 NM_006736.6(DNAJB2):c.571C>T (p.Arg191Trp) SNV Uncertain significance 473304 rs776893562 GRCh37: 2:220148163-220148163
GRCh38: 2:219283441-219283441
49 DNAJB2 NM_006736.6(DNAJB2):c.226A>C (p.Thr76Pro) SNV Uncertain significance 540530 rs1247249384 GRCh37: 2:220146490-220146490
GRCh38: 2:219281768-219281768
50 DNAJB2 NM_006736.6(DNAJB2):c.548G>A (p.Arg183Lys) SNV Uncertain significance 568441 rs369758068 GRCh37: 2:220147957-220147957
GRCh38: 2:219283235-219283235

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

72
# Symbol AA change Variation ID SNP ID
1 DNAJB2 p.Tyr5Cys VAR_073286 rs730882140

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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