MCID: SPN255
MIFTS: 20

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Muscle 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 73
Dsma5 57 59 75
Atrophy, Muscular, Spinal, Distal, Autosomal Recessive, Type 5 40
Autosomal Recessive Distal Spinal Muscular Atrophy Type 5 59
Distal Spinal Muscular Atrophy, Autosomal Recessive, 5 75
Young Adult-Onset Distal Hereditary Motor Neuropathy 59
Young Adult-Onset Dhmn 59

Characteristics:

Orphanet epidemiological data:

59
young adult-onset distal hereditary motor neuropathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
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:

32
spinal muscular atrophy, distal, autosomal recessive, 5:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 614881
Orphanet 59 ORPHA314485
ICD10 via Orphanet 34 G12.2
MedGen 42 C3553989
MeSH 44 D009134
UMLS 73 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)

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 gait disturbance and dysphonia

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 gait disturbance 32 HP:0001288
2 dysphonia 32 occasional (7.5%) HP:0001618
3 skeletal muscle atrophy 32 HP:0003202
4 pes cavus 32 occasional (7.5%) HP:0001761
5 areflexia 32 HP:0001284
6 foot dorsiflexor weakness 32 HP:0009027
7 distal sensory impairment 32 HP:0002936
8 spinal muscular atrophy 32 HP:0007269

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:

41
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:

75
# 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 all 48)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAJB2 DNAJB2, IVS5DS, G-A, +1 single nucleotide variant Pathogenic
2 DNAJB2 NM_001039550.1(DNAJB2): c.229+1G> A single nucleotide variant Pathogenic rs730882139 GRCh37 Chromosome 2, 220146494: 220146494
3 DNAJB2 NM_001039550.1(DNAJB2): c.229+1G> A single nucleotide variant Pathogenic rs730882139 GRCh38 Chromosome 2, 219281772: 219281772
4 DNAJB2 NM_001039550.1(DNAJB2): c.14A> G (p.Tyr5Cys) single nucleotide variant Pathogenic rs730882140 GRCh37 Chromosome 2, 220144569: 220144569
5 DNAJB2 NM_001039550.1(DNAJB2): c.14A> G (p.Tyr5Cys) single nucleotide variant Pathogenic rs730882140 GRCh38 Chromosome 2, 219279847: 219279847
6 DNAJB2 NM_001039550.1(DNAJB2): c.352+1G> A single nucleotide variant Pathogenic rs756614404 GRCh37 Chromosome 2, 220146784: 220146784
7 DNAJB2 NM_001039550.1(DNAJB2): c.352+1G> A single nucleotide variant Pathogenic rs756614404 GRCh38 Chromosome 2, 219282062: 219282062
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.620-1G> A single nucleotide variant Pathogenic rs764813110 GRCh37 Chromosome 2, 220149353: 220149353
15 DNAJB2 NM_001039550.1(DNAJB2): c.620-1G> A single nucleotide variant Pathogenic rs764813110 GRCh38 Chromosome 2, 219284631: 219284631
16 DNAJB2 NG_029553.1: g.3620_7471del3852 deletion Pathogenic GRCh38 Chromosome 2, 219277937: 219281788
17 DNAJB2 NG_029553.1: g.3620_7471del3852 deletion Pathogenic GRCh37 Chromosome 2, 220142659: 220146510
18 DNAJB2 NM_001039550.1(DNAJB2): c.808G> C (p.Gly270Arg) single nucleotide variant Benign rs34127289 GRCh37 Chromosome 2, 220149542: 220149542
19 DNAJB2 NM_001039550.1(DNAJB2): c.808G> C (p.Gly270Arg) single nucleotide variant Benign rs34127289 GRCh38 Chromosome 2, 219284820: 219284820
20 DNAJB2 NM_001039550.1(DNAJB2): c.787C> T (p.Leu263=) single nucleotide variant Likely benign rs140805390 GRCh37 Chromosome 2, 220149521: 220149521
21 DNAJB2 NM_001039550.1(DNAJB2): c.787C> T (p.Leu263=) single nucleotide variant Likely benign rs140805390 GRCh38 Chromosome 2, 219284799: 219284799
22 DNAJB2 NM_001039550.1(DNAJB2): c.195C> T (p.Tyr65=) single nucleotide variant Likely benign rs116719245 GRCh37 Chromosome 2, 220146459: 220146459
23 DNAJB2 NM_001039550.1(DNAJB2): c.195C> T (p.Tyr65=) single nucleotide variant Likely benign rs116719245 GRCh38 Chromosome 2, 219281737: 219281737
24 DNAJB2 NM_001039550.1(DNAJB2): c.703C> G (p.Gln235Glu) single nucleotide variant Likely benign rs148615702 GRCh37 Chromosome 2, 220149437: 220149437
25 DNAJB2 NM_001039550.1(DNAJB2): c.703C> G (p.Gln235Glu) single nucleotide variant Likely benign rs148615702 GRCh38 Chromosome 2, 219284715: 219284715
26 DNAJB2 NC_000002.12: g.(?_219285984)_(219426010_?)dup duplication Uncertain significance GRCh38 Chromosome 2, 219285984: 219426010
27 DNAJB2 NM_001039550.1(DNAJB2): c.298G> A (p.Glu100Lys) single nucleotide variant Benign rs139406455 GRCh38 Chromosome 2, 219282007: 219282007
28 DNAJB2 NM_001039550.1(DNAJB2): c.298G> A (p.Glu100Lys) single nucleotide variant Benign rs139406455 GRCh37 Chromosome 2, 220146729: 220146729
29 DNAJB2 NM_001039550.1(DNAJB2): c.446-8G> A single nucleotide variant Benign rs3821039 GRCh37 Chromosome 2, 220147847: 220147847
30 DNAJB2 NM_001039550.1(DNAJB2): c.446-8G> A single nucleotide variant Benign rs3821039 GRCh38 Chromosome 2, 219283125: 219283125
31 DNAJB2 NM_001039550.1(DNAJB2): c.571C> T (p.Arg191Trp) single nucleotide variant Uncertain significance rs776893562 GRCh37 Chromosome 2, 220148163: 220148163
32 DNAJB2 NM_001039550.1(DNAJB2): c.571C> T (p.Arg191Trp) single nucleotide variant Uncertain significance rs776893562 GRCh38 Chromosome 2, 219283441: 219283441
33 DNAJB2 NM_001039550.1(DNAJB2): c.730C> T (p.Pro244Ser) single nucleotide variant Uncertain significance rs749436734 GRCh37 Chromosome 2, 220149464: 220149464
34 DNAJB2 NM_001039550.1(DNAJB2): c.730C> T (p.Pro244Ser) single nucleotide variant Uncertain significance rs749436734 GRCh38 Chromosome 2, 219284742: 219284742
35 DNAJB2 NM_001039550.1(DNAJB2): c.147G> A (p.Val49=) single nucleotide variant Likely benign GRCh38 Chromosome 2, 219280659: 219280659
36 DNAJB2 NM_001039550.1(DNAJB2): c.147G> A (p.Val49=) single nucleotide variant Likely benign GRCh37 Chromosome 2, 220145381: 220145381
37 DNAJB2 NM_001039550.1(DNAJB2): c.226A> C (p.Thr76Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 219281768: 219281768
38 DNAJB2 NM_001039550.1(DNAJB2): c.226A> C (p.Thr76Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 220146490: 220146490
39 DNAJB2 NM_001039550.1(DNAJB2): c.245G> C (p.Arg82Pro) single nucleotide variant Uncertain significance rs576205050 GRCh38 Chromosome 2, 219281954: 219281954
40 DNAJB2 NM_001039550.1(DNAJB2): c.245G> C (p.Arg82Pro) single nucleotide variant Uncertain significance rs576205050 GRCh37 Chromosome 2, 220146676: 220146676
41 DNAJB2 NM_001039550.1(DNAJB2): c.445+8C> T single nucleotide variant Likely benign GRCh38 Chromosome 2, 219282937: 219282937
42 DNAJB2 NM_001039550.1(DNAJB2): c.445+8C> T single nucleotide variant Likely benign GRCh37 Chromosome 2, 220147659: 220147659
43 DNAJB2 NM_001039550.1(DNAJB2): c.823+7G> A single nucleotide variant Likely benign rs778963579 GRCh38 Chromosome 2, 219284842: 219284842
44 DNAJB2 NM_001039550.1(DNAJB2): c.823+7G> A single nucleotide variant Likely benign rs778963579 GRCh37 Chromosome 2, 220149564: 220149564
45 DNAJB2 NM_001039550.1(DNAJB2): c.184C> T (p.Arg62Trp) single nucleotide variant Uncertain significance rs747378005 GRCh37 Chromosome 2, 220146448: 220146448
46 DNAJB2 NM_001039550.1(DNAJB2): c.184C> T (p.Arg62Trp) single nucleotide variant Uncertain significance rs747378005 GRCh38 Chromosome 2, 219281726: 219281726
47 DNAJB2 NM_001039550.1(DNAJB2): c.249A> G (p.Ala83=) single nucleotide variant Likely benign rs576058376 GRCh37 Chromosome 2, 220146680: 220146680
48 DNAJB2 NM_001039550.1(DNAJB2): c.249A> G (p.Ala83=) single nucleotide variant Likely benign rs576058376 GRCh38 Chromosome 2, 219281958: 219281958

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

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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

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