DSMA2
MCID: SPN326
MIFTS: 38

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 20 72 44 70
Neuropathy, Distal Hereditary Motor, Jerash Type 57 20 72
Dsma2 57 12 72
Hmnj 57 20 72
Distal Spinal Muscular Atrophy, Autosomal Recessive 2 29 6
Neuronopathy, Distal Hereditary Motor, Jerash Type 57 72
Distal Hereditary Motor Neuropathy, Jerash Type 58 13
Hereditary Motor Neuropathy, Jerash Type 20 72
Motor Neuropathy, Distal, Jerash Type 20 72
Distal Spinal Muscular Atrophy 2 12 15
Dhmnj 12 58
Atrophy, Muscular, Spinal, Distal, Autosomal Recessive, Type 2 39
Autosomal Recessive Distal Spinal Muscular Atrophy Type 2 58
Neuropathy, Distal Hereditary Motor, Jerash Type; Hmnj 57
Distal Spinal Muscular Atrophy, Autosomal Recessive, 2 72
Autosomal Recessive Distal Spinal Muscular Atrophy 2 12
Distal Hereditary Motor Neuropathy Jerash Type 12
Spinal Muscular Atrophy Jerash Type 12
Mndj 20

Characteristics:

Orphanet epidemiological data:

58
distal hereditary motor neuropathy, jerash type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
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:

31
spinal muscular atrophy, distal, autosomal recessive, 2:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111065
OMIM® 57 605726
SNOMED-CT 67 763533003
ICD10 via Orphanet 33 G12.2
UMLS via Orphanet 71 C1854023
Orphanet 58 ORPHA139552
MedGen 41 C1854023
UMLS 70 C1854023

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

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 139552 Definition 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 (such as brisk knee reflexes and positive Babinski sign) with absent ankle reflexes are initially associated but regress as disease stabilizes (~10 years after onset).

MalaCards based summary : Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2, also known as spinal muscular atrophy, jerash type, is related to distal hereditary motor neuronopathy type 2 and spastic ataxia 2. 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 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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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:

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 distal hereditary motor neuronopathy type 2 30.8 HSPB8 HSPB3 GARS1 BSCL2
2 spastic ataxia 2 10.2 REEP1 BICD2
3 spinal muscular atrophy with lower extremity predominance 10.2 GARS1 BICD2
4 bscl2-related neurologic disorders/seipinopathy 10.2 GARS1 BSCL2
5 autosomal recessive distal hereditary motor neuronopathy 10.2 REEP1 GARS1
6 thoracic outlet syndrome 10.2 GARS1 BSCL2
7 charcot-marie-tooth disease, axonal, type 2i 10.2 HSPB8 GARS1
8 spinal muscular atrophy, distal, autosomal recessive, 1 10.2 REEP1 GARS1
9 spastic paraplegia 6, autosomal dominant 10.1 REEP1 BSCL2
10 photoparoxysmal response 1 10.1 TRPV4 ERCC6
11 spastic paraplegia 31, autosomal dominant 10.1 REEP1 BSCL2
12 alzheimer disease 7 10.1 SIGMAR1 MFN2
13 spastic paraplegia 42, autosomal dominant 10.1 REEP1 BSCL2
14 charcot-marie-tooth disease, x-linked recessive, 2 10.1 MFN2 BSCL2
15 charcot-marie-tooth disease, axonal, type 2a1 10.1 MFN2 HSPB8
16 spastic paraplegia 8, autosomal dominant 10.1 REEP1 BSCL2
17 charcot-marie-tooth disease, recessive intermediate a 10.1 MFN2 HSPB8
18 charcot-marie-tooth disease intermediate type 10.1 MFN2 GARS1
19 charcot-marie-tooth disease type x 10.1 MFN2 GARS1
20 spastic paraplegia 10, autosomal dominant 10.1 REEP1 BSCL2
21 charcot-marie-tooth disease, x-linked dominant, 1 10.0 MFN2 GARS1
22 genetic motor neuron disease 10.0 TRPV4 MFN2
23 charcot-marie-tooth disease, demyelinating, type 1b 10.0 MFN2 GARS1
24 scapuloperoneal spinal muscular atrophy 10.0 TRPV4 GARS1 BICD2
25 spastic paraplegia 4, autosomal dominant 10.0 REEP1 BSCL2
26 charcot-marie-tooth disease, type 4a 9.9 MFN2 HSPB8 GARS1
27 masa syndrome 9.9 REEP1 BSCL2
28 neuropathy, hereditary, with liability to pressure palsies 9.9 MFN2 GARS1
29 charcot-marie-tooth disease, axonal, type 2b 9.9 MFN2 HSPB8 GARS1
30 charcot-marie-tooth disease, axonal, type 2b2 9.9 MFN2 HSPB8 GARS1
31 charcot-marie-tooth disease, demyelinating, type 1c 9.9 MFN2 HSPB8 GARS1
32 hypertrophic neuropathy of dejerine-sottas 9.9 MFN2 HSPB8 GARS1
33 neuronopathy, distal hereditary motor, type iic 9.9 HSPB8 HSPB3
34 spastic paraplegia 17, autosomal dominant 9.9 REEP1 HSPB8 GARS1 BSCL2
35 axonal neuropathy 9.9 TRPV4 MFN2 GARS1
36 charcot-marie-tooth disease, axonal, type 2l 9.8 MFN2 HSPB8 GARS1 BSCL2
37 charcot-marie-tooth disease, axonal, type 2d 9.8 MFN2 HSPB8 GARS1 BSCL2
38 charcot-marie-tooth disease, type 4b2 9.7 MFN2 GARS1
39 autosomal dominant distal hereditary motor neuronopathy 9.7 REEP1 HSPB8 GARS1 BSCL2 BICD2
40 hereditary motor and sensory neuropathy, type iic 9.7 TRPV4 MFN2 HSPB8 GARS1
41 neuropathy, hereditary sensory and autonomic, type iia 9.7 TRPV4 NTRK1 HSPB8 BSCL2
42 neuronopathy, distal hereditary motor, type va 9.6 REEP1 MFN2 HSPB8 GARS1 BSCL2
43 spinal muscular atrophy 9.5 TRPV4 SIGMAR1 HSPB8 GARS1 BSCL2 BICD2
44 muscular atrophy 9.5 TRPV4 SIGMAR1 HSPB8 GARS1 BSCL2 BICD2
45 charcot-marie-tooth disease and deafness 9.5 TRPV4 MFN2 HSPB8 GARS1 BSCL2
46 neuropathy, congenital hypomyelinating, 1, autosomal recessive 9.5 TRPV4 MFN2 HSPB8 GARS1 BSCL2
47 motor neuron disease 9.4 TRPV4 SIGMAR1 MFN2 GARS1 BSCL2 BICD2
48 charcot-marie-tooth disease, axonal, type 2f 9.3 MFN2 HSPB8 HSPB3 GARS1 BSCL2
49 peripheral nervous system disease 9.3 TRPV4 NTRK1 MFN2 HSPB8 GARS1 ERCC6
50 motor peripheral neuropathy 9.2 TRPV4 REEP1 MFN2 HSPB8 GARS1 BSCL2

Graphical network of the top 20 diseases related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2:



Diseases related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2

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

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

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 split hand 31 occasional (7.5%) HP:0001171
2 pes cavus 31 HP:0001761
3 hyporeflexia 31 HP:0001265
4 decreased motor nerve conduction velocity 31 HP:0003431
5 babinski sign 31 HP:0003487
6 hammertoe 31 HP:0001765
7 distal muscle weakness 31 HP:0002460
8 distal amyotrophy 31 HP:0003693
9 foot dorsiflexor weakness 31 HP:0009027
10 spinal muscular atrophy 31 HP:0007269

Symptoms via clinical synopsis from OMIM®:

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

MGI Mouse Phenotypes related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 BICD2 BSCL2 ERCC6 GARS1 HSPB8 LAMA2
2 muscle MP:0005369 9.5 ERCC6 GARS1 HSPB8 LAMA2 MFN2 NTRK1
3 nervous system MP:0003631 9.36 BICD2 BSCL2 ERCC6 GARS1 HSPB8 LAMA2

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

Articles related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2:

# Title Authors PMID Year
1
A SIGMAR1 splice-site mutation causes distal hereditary motor neuropathy. 6 57
26078401 2015
2
Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families. 6
28708278 2018
3
SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome. 6
27629094 2016
4
Dysfunction in endoplasmic reticulum-mitochondria crosstalk underlies SIGMAR1 loss of function mediated motor neuron degeneration. 57
25678561 2015
5
The sigma-1 receptor is enriched in postsynaptic sites of C-terminals in mouse motoneurons. An anatomical and behavioral study. 57
20167253 2010
6
A novel form of distal hereditary motor neuronopathy maps to chromosome 9p21.1-p12. 57
11117544 2000
7
Distal hereditary motor neuronopathy of the Jerash type is caused by a novel SIGMAR1 c.500A>T missense mutation. 61
31511340 2020

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

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

6 (show top 50) (show all 57)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SIGMAR1 NM_005866.4(SIGMAR1):c.151+1G>T SNV Pathogenic 208123 rs796065352 GRCh37: 9:34637543-34637543
GRCh38: 9:34637546-34637546
2 SIGMAR1 NM_005866.4(SIGMAR1):c.13del (p.Val5fs) Deletion Pathogenic 569448 rs1564096761 GRCh37: 9:34637682-34637682
GRCh38: 9:34637685-34637685
3 SIGMAR1 NM_005866.4(SIGMAR1):c.238C>T (p.Gln80Ter) SNV Pathogenic 623389 rs1564096221 GRCh37: 9:34637331-34637331
GRCh38: 9:34637334-34637334
4 SIGMAR1 NM_005866.4(SIGMAR1):c.19del (p.Arg7fs) Deletion Pathogenic 650504 rs747285235 GRCh37: 9:34637676-34637676
GRCh38: 9:34637679-34637679
5 SIGMAR1 NM_005866.4(SIGMAR1):c.283dup (p.Leu95fs) Duplication Pathogenic 209190 rs780136067 GRCh37: 9:34637285-34637286
GRCh38: 9:34637288-34637289
6 SIGMAR1 NM_005866.4(SIGMAR1):c.194T>A (p.Leu65Gln) SNV Likely pathogenic 575556 rs140376902 GRCh37: 9:34637375-34637375
GRCh38: 9:34637378-34637378
7 SIGMAR1 NM_005866.4(SIGMAR1):c.446-5C>G SNV Uncertain significance 578578 rs1564095230 GRCh37: 9:34635860-34635860
GRCh38: 9:34635863-34635863
8 SIGMAR1 NM_005866.4(SIGMAR1):c.632G>A (p.Arg211Gln) SNV Uncertain significance 573115 rs192644838 GRCh37: 9:34635669-34635669
GRCh38: 9:34635672-34635672
9 SIGMAR1 NM_005866.4(SIGMAR1):c.595C>T (p.Leu199Phe) SNV Uncertain significance 655091 rs146118253 GRCh37: 9:34635706-34635706
GRCh38: 9:34635709-34635709
10 SIGMAR1 NM_005866.4(SIGMAR1):c.529G>A (p.Val177Ile) SNV Uncertain significance 659848 rs149409262 GRCh37: 9:34635772-34635772
GRCh38: 9:34635775-34635775
11 SIGMAR1 NM_005866.4(SIGMAR1):c.*51G>T SNV Uncertain significance 643550 rs768783740 GRCh37: 9:34635578-34635578
GRCh38: 9:34635581-34635581
12 SIGMAR1 NM_005866.4(SIGMAR1):c.344G>T (p.Gly115Val) SNV Uncertain significance 534263 rs1241574813 GRCh37: 9:34637225-34637225
GRCh38: 9:34637228-34637228
13 SIGMAR1 NM_005866.4(SIGMAR1):c.463G>A (p.Gly155Arg) SNV Uncertain significance 465869 rs200076129 GRCh37: 9:34635838-34635838
GRCh38: 9:34635841-34635841
14 SIGMAR1 NM_005866.4(SIGMAR1):c.259G>A (p.Gly87Ser) SNV Uncertain significance 642698 rs768933234 GRCh37: 9:34637310-34637310
GRCh38: 9:34637313-34637313
15 SIGMAR1 NM_005866.4(SIGMAR1):c.254A>G (p.Asn85Ser) SNV Uncertain significance 845864 GRCh37: 9:34637315-34637315
GRCh38: 9:34637318-34637318
16 SIGMAR1 NM_005866.4(SIGMAR1):c.250G>C (p.Val84Leu) SNV Uncertain significance 937637 GRCh37: 9:34637319-34637319
GRCh38: 9:34637322-34637322
17 SIGMAR1 NM_005866.4(SIGMAR1):c.72G>C (p.Gln24His) SNV Uncertain significance 1000696 GRCh37: 9:34637623-34637623
GRCh38: 9:34637626-34637626
18 SIGMAR1 NM_005866.4(SIGMAR1):c.61G>A (p.Val21Met) SNV Uncertain significance 1001150 GRCh37: 9:34637634-34637634
GRCh38: 9:34637637-34637637
19 SIGMAR1 NM_005866.4(SIGMAR1):c.92G>A (p.Gly31Asp) SNV Uncertain significance 534261 rs532632647 GRCh37: 9:34637603-34637603
GRCh38: 9:34637606-34637606
20 SIGMAR1 NM_005866.4(SIGMAR1):c.140G>C (p.Arg47Pro) SNV Uncertain significance 653722 rs779459049 GRCh37: 9:34637555-34637555
GRCh38: 9:34637558-34637558
21 SIGMAR1 NM_005866.4(SIGMAR1):c.553G>A (p.Ala185Thr) SNV Uncertain significance 836890 GRCh37: 9:34635748-34635748
GRCh38: 9:34635751-34635751
22 SIGMAR1 NM_005866.4(SIGMAR1):c.259G>C (p.Gly87Arg) SNV Uncertain significance 933691 GRCh37: 9:34637310-34637310
GRCh38: 9:34637313-34637313
23 SIGMAR1 NM_005866.4(SIGMAR1):c.59C>A (p.Ala20Glu) SNV Uncertain significance 951820 GRCh37: 9:34637636-34637636
GRCh38: 9:34637639-34637639
24 SIGMAR1 NM_005866.4(SIGMAR1):c.359A>G (p.Tyr120Cys) SNV Uncertain significance 954244 GRCh37: 9:34637080-34637080
GRCh38: 9:34637083-34637083
25 SIGMAR1 NM_005866.4(SIGMAR1):c.170C>G (p.Ala57Gly) SNV Uncertain significance 955250 GRCh37: 9:34637399-34637399
GRCh38: 9:34637402-34637402
26 SIGMAR1 NM_005866.4(SIGMAR1):c.553G>C (p.Ala185Pro) SNV Uncertain significance 1017093 GRCh37: 9:34635748-34635748
GRCh38: 9:34635751-34635751
27 SIGMAR1 NM_005866.4(SIGMAR1):c.89T>C (p.Leu30Pro) SNV Uncertain significance 1025205 GRCh37: 9:34637606-34637606
GRCh38: 9:34637609-34637609
28 SIGMAR1 NM_005866.4(SIGMAR1):c.61G>C (p.Val21Leu) SNV Uncertain significance 567953 rs1396152845 GRCh37: 9:34637634-34637634
GRCh38: 9:34637637-34637637
29 SIGMAR1 NM_005866.4(SIGMAR1):c.623G>A (p.Arg208Gln) SNV Uncertain significance 569077 rs541996857 GRCh37: 9:34635678-34635678
GRCh38: 9:34635681-34635681
30 SIGMAR1 NM_005866.4(SIGMAR1):c.476C>T (p.Ala159Val) SNV Uncertain significance 851297 GRCh37: 9:34635825-34635825
GRCh38: 9:34635828-34635828
31 SIGMAR1 NM_005866.4(SIGMAR1):c.279G>A (p.Met93Ile) SNV Uncertain significance 864564 GRCh37: 9:34637290-34637290
GRCh38: 9:34637293-34637293
32 SIGMAR1 NM_005866.4(SIGMAR1):c.652C>T (p.Leu218Phe) SNV Uncertain significance 937430 GRCh37: 9:34635649-34635649
GRCh38: 9:34635652-34635652
33 SIGMAR1 NM_005866.4(SIGMAR1):c.208C>T (p.Pro70Ser) SNV Uncertain significance 943214 GRCh37: 9:34637361-34637361
GRCh38: 9:34637364-34637364
34 SIGMAR1 NM_005866.4(SIGMAR1):c.11C>T (p.Ala4Val) SNV Uncertain significance 534262 rs367968662 GRCh37: 9:34637684-34637684
GRCh38: 9:34637687-34637687
35 SIGMAR1 NM_005866.4(SIGMAR1):c.298C>G (p.Leu100Val) SNV Uncertain significance 568833 rs1278952640 GRCh37: 9:34637271-34637271
GRCh38: 9:34637274-34637274
36 SIGMAR1 NM_005866.4(SIGMAR1):c.545T>C (p.Leu182Pro) SNV Uncertain significance 448379 rs781091660 GRCh37: 9:34635756-34635756
GRCh38: 9:34635759-34635759
37 SIGMAR1 NM_005866.4(SIGMAR1):c.247T>C (p.Phe83Leu) SNV Uncertain significance 579502 rs773344340 GRCh37: 9:34637322-34637322
GRCh38: 9:34637325-34637325
38 SIGMAR1 NM_005866.4(SIGMAR1):c.463G>T (p.Gly155Trp) SNV Uncertain significance 843288 GRCh37: 9:34635838-34635838
GRCh38: 9:34635841-34635841
39 SIGMAR1 NM_005866.4(SIGMAR1):c.98A>C (p.Gln33Pro) SNV Uncertain significance 946896 GRCh37: 9:34637597-34637597
GRCh38: 9:34637600-34637600
40 SIGMAR1 NM_005866.4(SIGMAR1):c.631C>T (p.Arg211Trp) SNV Uncertain significance 1054779 GRCh37: 9:34635670-34635670
GRCh38: 9:34635673-34635673
41 SIGMAR1 NM_005866.4(SIGMAR1):c.118G>A (p.Glu40Lys) SNV Uncertain significance 1058624 GRCh37: 9:34637577-34637577
GRCh38: 9:34637580-34637580
42 overlap with 17 genes NC_000009.11:g.(?_34458994)_(35072710_?)dup Duplication Uncertain significance 1042271 GRCh37: 9:34458994-35072710
GRCh38:
43 SIGMAR1 NM_005866.4(SIGMAR1):c.511G>T (p.Val171Leu) SNV Uncertain significance 1040142 GRCh37: 9:34635790-34635790
GRCh38: 9:34635793-34635793
44 SIGMAR1 NM_005866.4(SIGMAR1):c.614C>T (p.Ser205Phe) SNV Uncertain significance 939656 GRCh37: 9:34635687-34635687
GRCh38: 9:34635690-34635690
45 overlap with 50 genes NC_000009.11:g.(?_34458984)_(36277059_?)dup Duplication Uncertain significance 584345 GRCh37: 9:34458984-36277059
GRCh38:
46 SIGMAR1 NM_005866.4(SIGMAR1):c.79T>A (p.Trp27Arg) SNV Uncertain significance 565401 rs1564096623 GRCh37: 9:34637616-34637616
GRCh38: 9:34637619-34637619
47 SIGMAR1 NM_005866.4(SIGMAR1):c.195G>A (p.Leu65=) SNV Likely benign 705170 rs1193231930 GRCh37: 9:34637374-34637374
GRCh38: 9:34637377-34637377
48 SIGMAR1 NM_005866.4(SIGMAR1):c.366T>C (p.Ala122=) SNV Likely benign 767353 rs754723315 GRCh37: 9:34637073-34637073
GRCh38: 9:34637076-34637076
49 SIGMAR1 NM_005866.4(SIGMAR1):c.453G>A (p.Thr151=) SNV Likely benign 534264 rs751571040 GRCh37: 9:34635848-34635848
GRCh38: 9:34635851-34635851
50 SIGMAR1 NM_005866.4(SIGMAR1):c.303C>T (p.Ser101=) SNV Likely benign 534265 rs59277791 GRCh37: 9:34637266-34637266
GRCh38: 9:34637269-34637269

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

Molecular functions related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.43 TRPV4 NTRK1 MTPAP MFN2 GARS1 ERCC6
2 identical protein binding GO:0042802 9.17 TRPV4 SIGMAR1 PMEL NTRK1 MTPAP HSPB8

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

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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