DSMA4
MCID: SPN191
MIFTS: 46

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 (DSMA4)

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

Aliases & Classifications for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

MalaCards integrated aliases for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4:

Name: Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 57 13 44 70
Dsma4 57 12 58 72
Distal Spinal Muscular Atrophy Type 4 12 58 15
Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset 12 58
Autosomal Recessive Distal Spinal Muscular Atrophy Type 4 12 58
Distal Spinal Muscular Atrophy, Autosomal Recessive 4 29 6
Atrophy, Muscular, Spinal, Distal, Autosomal Recessive, Type 4 39
Distal Spinal Muscular Atrophy, Autosomal Recessive, 4 72

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive lower motor neuron disease with childhood onset
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
rapidly progressive
onset in early childhood
patients may become ventilator-dependent

Inheritance:
autosomal recessive


HPO:

31
spinal muscular atrophy, distal, autosomal recessive, 4:
Inheritance autosomal recessive inheritance
Onset and clinical course rapidly progressive childhood onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111213
OMIM® 57 611067
ICD10 via Orphanet 33 G12.2
UMLS via Orphanet 71 C1970211
Orphanet 58 ORPHA206580
MedGen 41 C1970211
UMLS 70 C1970211

Summaries for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

UniProtKB/Swiss-Prot : 72 Distal spinal muscular atrophy, autosomal recessive, 4: A neuromuscular disorder. Distal spinal muscular atrophy, also known as distal hereditary motor neuronopathy, represents a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. DSMA4 is characterized by childhood onset, generalized muscle weakness and atrophy with denervation and normal sensation. Bulbar symptoms and pyramidal signs are absent.

MalaCards based summary : Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4, also known as dsma4, is related to motor neuron disease and charcot-marie-tooth disease, recessive intermediate c, and has symptoms including waddling gait An important gene associated with Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 is PLEKHG5 (Pleckstrin Homology And RhoGEF Domain Containing G5), and among its related pathways/superpathways are Pathways of neurodegeneration - multiple diseases and Neuroscience. Affiliated tissues include spinal cord, and related phenotypes are scoliosis and hyperlordosis

Disease Ontology : 12 An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has material basis in homozygous or compound heterozygous mutation in PLEKHG5 on 1p36.31.

More information from OMIM: 611067

Related Diseases for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

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

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 motor neuron disease 27.1 UBQLN2 TARDBP SYNE1 SQSTM1 SOD1 SMN2
2 charcot-marie-tooth disease, recessive intermediate c 10.3
3 quadriplegia 10.3
4 distal hereditary motor neuropathies 10.3 SETX DCTN1
5 spastic paraplegia 57, autosomal recessive 10.2 SPG11 ALS2
6 amyotrophic lateral sclerosis 20 10.2 SOD1 ALS2
7 motor peripheral neuropathy 10.1 SPG11 SETX DCTN1
8 spinal muscular atrophy type 0 10.1 SMN2 SMN1
9 postencephalitic parkinson disease 10.1 TARDBP PARK7
10 spinal muscular atrophy, x-linked 2 10.1 SMN2 SMN1
11 nephrolithiasis/osteoporosis, hypophosphatemic, 2 10.1 SMN2 SMN1
12 spastic paraplegia 7, autosomal recessive 10.0 SPG11 SETX
13 neuronopathy, distal hereditary motor, type viib 10.0 TARDBP DCTN1 ALS2
14 ophthalmomyiasis 10.0 TARDBP SOD1
15 amyotrophic lateral sclerosis 7 10.0 SPG11 SETX ANG ALS2
16 chronic inflammatory demyelinating polyneuritis 10.0 SMN2 SMN1
17 aceruloplasminemia 10.0 SYNE1 SOD1 SETX
18 anterior horn cell disease 10.0 SMN2 SMN1
19 proximal spinal muscular atrophy 10.0 SMN2 SMN1 SETX
20 spinal muscular atrophy, distal, autosomal recessive, 1 10.0 SMN2 SMN1 SETX
21 distal hereditary motor neuronopathy type 7 10.0 TARDBP PLEKHG5 DCTN1 ALS2
22 neuronopathy, distal hereditary motor, type va 9.9 SMN2 SMN1 PLEKHG5 DCTN1
23 agraphia 9.9 TARDBP C9orf72
24 autosomal recessive distal hereditary motor neuronopathy 9.9 SMN2 SMN1 SETX PLEKHG5
25 semantic dementia 9.9 TARDBP C9orf72
26 prosopagnosia 9.9 TARDBP C9orf72
27 amyotrophic lateral sclerosis 19 9.9 UBQLN2 TARDBP SOD1 ALS2
28 amyotrophic lateral sclerosis type 5 9.9 SPG11 SOD1 SETX ANG ALS2
29 amyotrophic lateral sclerosis 21 9.9 SETX FUS ALS2
30 perry syndrome 9.8 TARDBP DCTN1 C9orf72
31 epilepsy, idiopathic generalized 2 9.8 TARDBP C9orf72
32 amyotrophic lateral sclerosis type 15 9.8 UBQLN2 SPG11 SETX C9orf72 ALS2
33 amyotrophic lateral sclerosis 18 9.7 UBQLN2 SETX FUS ALS2
34 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 9.7 TARDBP FUS
35 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 9.7 FUS C9orf72
36 locked-in syndrome 9.7 TARDBP SOD1 FUS
37 paget's disease of bone 9.7 SQSTM1 OPTN C9orf72
38 amyotrophic lateral sclerosis 16, juvenile 9.6 UBQLN2 SPG11 SETX FUS ALS2
39 fragile x-associated tremor/ataxia syndrome 9.6 UBQLN2 FUS C9orf72
40 charcot-marie-tooth disease, axonal, type 2e 9.6 SPG11 SOD1 SMN2 SMN1 DCTN1 ALS2
41 hereditary spastic paraplegia 9.6 UBQLN2 SPG11 SETX PLEKHG5 C9orf72 ALS2
42 charcot-marie-tooth disease 9.6 SPG11 SOD1 SMN2 SETX PLEKHG5 DCTN1
43 juvenile amyotrophic lateral sclerosis 9.6 SYNE1 SPG11 SETX PLEKHG5 FUS ALS2
44 associative agnosia 9.5 TARDBP FUS C9orf72
45 amyotrophic lateral sclerosis type 22 9.5 TARDBP FUS C9orf72
46 ideomotor apraxia 9.5 TARDBP FUS C9orf72
47 nominal aphasia 9.5 TARDBP FUS C9orf72
48 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 9.5 TRPM7 TARDBP SOD1 PARK7 C9orf72
49 pica disease 9.5 TARDBP FUS C9orf72
50 dysgraphia 9.5 TARDBP FUS C9orf72

Graphical network of the top 20 diseases related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4:



Diseases related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

Symptoms & Phenotypes for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

Human phenotypes related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 scoliosis 31 HP:0002650
2 hyperlordosis 31 HP:0003307
3 waddling gait 31 HP:0002515
4 respiratory insufficiency due to muscle weakness 31 HP:0002747
5 talipes equinovarus 31 HP:0001762
6 areflexia 31 HP:0001284
7 distal muscle weakness 31 HP:0002460
8 proximal muscle weakness 31 HP:0003701
9 difficulty walking 31 HP:0002355
10 distal amyotrophy 31 HP:0003693
11 joint contracture of the hand 31 HP:0009473
12 difficulty climbing stairs 31 HP:0003551
13 abnormal lower motor neuron morphology 31 HP:0002366
14 emg: neuropathic changes 31 HP:0003445
15 spinal muscular atrophy 31 HP:0007269
16 scapuloperoneal amyotrophy 31 HP:0003697

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Spine:
scoliosis
hyperlordosis

Skeletal Feet:
talipes equinovarus

Respiratory:
decreased respiratory function due to muscle weakness

Muscle Soft Tissue:
distal muscle atrophy due to denervation
scapuloperoneal muscular atrophy due to denervation

Neurologic Central Nervous System:
waddling gait
proximal muscle weakness
normal mental development
lower motor neuron disease
distal muscle weakness and atrophy due to motor neuronopathy
more
Neurologic Peripheral Nervous System:
areflexia
normal sensation
sural nerve biopsy shows normal findings

Skeletal Hands:
contractures, hand and finger muscles

Clinical features from OMIM®:

611067 (Updated 05-Apr-2021)

UMLS symptoms related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4:


waddling gait

MGI Mouse Phenotypes related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.15 ALS2 C9orf72 DCTN1 PARK7 SETX SMN2
2 cellular MP:0005384 10.1 ANG C9orf72 DCTN1 PARK7 SETX SMN2
3 homeostasis/metabolism MP:0005376 10.1 ALS2 ANG C9orf72 DCTN1 OPTN PARK7
4 immune system MP:0005387 9.9 ALS2 ANG C9orf72 DCTN1 OPTN SETX
5 muscle MP:0005369 9.5 ALS2 DCTN1 PLEKHG5 SMN2 SOD1 SYNE1
6 nervous system MP:0003631 9.36 ALS2 C9orf72 DCTN1 PARK7 SMN2 SOD1

Drugs & Therapeutics for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

Cochrane evidence based reviews: spinal muscular atrophy, distal, autosomal recessive, 4

Genetic Tests for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

Genetic tests related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4:

# Genetic test Affiliating Genes
1 Distal Spinal Muscular Atrophy, Autosomal Recessive 4 29 PLEKHG5

Anatomical Context for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

MalaCards organs/tissues related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4:

40
Spinal Cord

Publications for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

Articles related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4:

# Title Authors PMID Year
1
The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. 6 61 57
17564964 2007
2
A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36. 57 6 61
16728649 2006
3
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. 6
23777631 2013

Variations for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

ClinVar genetic disease variations for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4:

6 (show top 50) (show all 466)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PLEKHG5 NC_000001.11:g.(?_6467553)_(6477668_?)del Deletion Pathogenic 832446 GRCh37: 1:6527613-6537728
GRCh38:
2 PLEKHG5 NC_000001.11:g.(?_6474003)_(6477668_?)del Deletion Pathogenic 832925 GRCh37: 1:6534063-6537728
GRCh38:
3 PLEKHG5 NM_020631.5(PLEKHG5):c.453_543del (p.Gly152fs) Deletion Pathogenic 663141 rs1569875704 GRCh37: 1:6534121-6534211
GRCh38: 1:6474061-6474151
4 PLEKHG5 NM_020631.6(PLEKHG5):c.1438_1439del (p.Met480fs) Deletion Pathogenic 950561 GRCh37: 1:6530898-6530899
GRCh38: 1:6470838-6470839
5 PLEKHG5 NM_020631.5(PLEKHG5):c.2542C>T (p.Arg848Ter) SNV Pathogenic 566096 rs770593694 GRCh37: 1:6528354-6528354
GRCh38: 1:6468294-6468294
6 PLEKHG5 NM_020631.5(PLEKHG5):c.2362_2363TC[2] (p.Leu789fs) Microsatellite Pathogenic 468906 rs759212541 GRCh37: 1:6528529-6528530
GRCh38: 1:6468469-6468470
7 PLEKHG5 NM_020631.6(PLEKHG5):c.1145_1146dup (p.Leu383fs) Microsatellite Pathogenic 963691 GRCh37: 1:6531682-6531683
GRCh38: 1:6471622-6471623
8 PLEKHG5 NM_020631.6(PLEKHG5):c.1002del (p.Gln334fs) Deletion Pathogenic 835966 GRCh37: 1:6532665-6532665
GRCh38: 1:6472605-6472605
9 PLEKHG5 NM_020631.6(PLEKHG5):c.779_780del (p.Thr260fs) Deletion Pathogenic 845778 GRCh37: 1:6533326-6533327
GRCh38: 1:6473266-6473267
10 PLEKHG5 NM_020631.6(PLEKHG5):c.1452_1453del (p.His485fs) Deletion Pathogenic 855821 GRCh37: 1:6530884-6530885
GRCh38: 1:6470824-6470825
11 PLEKHG5 NM_020631.6(PLEKHG5):c.1788del (p.Lys597fs) Deletion Pathogenic 859523 GRCh37: 1:6530308-6530308
GRCh38: 1:6470248-6470248
12 PLEKHG5 NM_020631.5(PLEKHG5):c.1940T>C (p.Phe647Ser) SNV Pathogenic 1019 rs63750315 GRCh37: 1:6529504-6529504
GRCh38: 1:6469444-6469444
13 PLEKHG5 NM_020631.5(PLEKHG5):c.2053C>T (p.Gln685Ter) SNV Pathogenic 489025 rs772217003 GRCh37: 1:6529298-6529298
GRCh38: 1:6469238-6469238
14 PLEKHG5 NM_020631.5(PLEKHG5):c.440-2A>G SNV Likely pathogenic 423836 rs144750655 GRCh37: 1:6534226-6534226
GRCh38: 1:6474166-6474166
15 PLEKHG5 NM_001265593.1(PLEKHG5):c.1645A>C (p.Met549Leu) SNV Likely pathogenic 549693 rs1441260635 GRCh37: 1:6530899-6530899
GRCh38: 1:6470839-6470839
16 PLEKHG5 NM_020631.5(PLEKHG5):c.607C>T (p.Arg203Cys) SNV Uncertain significance 565690 rs1315441735 GRCh37: 1:6533499-6533499
GRCh38: 1:6473439-6473439
17 PLEKHG5 NM_020631.5(PLEKHG5):c.86C>T (p.Pro29Leu) SNV Uncertain significance 575121 rs998963899 GRCh37: 1:6536054-6536054
GRCh38: 1:6475994-6475994
18 PLEKHG5 NM_020631.5(PLEKHG5):c.1514C>T (p.Pro505Leu) SNV Uncertain significance 297957 rs770934745 GRCh37: 1:6530823-6530823
GRCh38: 1:6470763-6470763
19 PLEKHG5 NM_020631.5(PLEKHG5):c.2999C>T (p.Thr1000Met) SNV Uncertain significance 652244 rs781065380 GRCh37: 1:6527897-6527897
GRCh38: 1:6467837-6467837
20 PLEKHG5 NM_020631.5(PLEKHG5):c.2698C>T (p.Arg900Cys) SNV Uncertain significance 468910 rs750132016 GRCh37: 1:6528198-6528198
GRCh38: 1:6468138-6468138
21 PLEKHG5 NM_020631.5(PLEKHG5):c.2212A>G (p.Met738Val) SNV Uncertain significance 468904 rs778686532 GRCh37: 1:6529139-6529139
GRCh38: 1:6469079-6469079
22 PLEKHG5 NM_020631.5(PLEKHG5):c.2227G>A (p.Gly743Ser) SNV Uncertain significance 536774 rs145073653 GRCh37: 1:6529124-6529124
GRCh38: 1:6469064-6469064
23 PLEKHG5 NM_020631.5(PLEKHG5):c.2435C>T (p.Ser812Phe) SNV Uncertain significance 536781 rs145009237 GRCh37: 1:6528461-6528461
GRCh38: 1:6468401-6468401
24 PLEKHG5 NM_020631.5(PLEKHG5):c.2233C>A (p.Pro745Thr) SNV Uncertain significance 468905 rs756501907 GRCh37: 1:6529118-6529118
GRCh38: 1:6469058-6469058
25 PLEKHG5 NM_020631.5(PLEKHG5):c.1535T>A (p.Val512Asp) SNV Uncertain significance 536769 rs548243654 GRCh37: 1:6530802-6530802
GRCh38: 1:6470742-6470742
26 PLEKHG5 NM_020631.5(PLEKHG5):c.931A>C (p.Asn311His) SNV Uncertain significance 536770 rs146020517 GRCh37: 1:6533099-6533099
GRCh38: 1:6473039-6473039
27 PLEKHG5 NM_020631.5(PLEKHG5):c.38C>T (p.Pro13Leu) SNV Uncertain significance 536771 rs776271244 GRCh37: 1:6537594-6537594
GRCh38: 1:6477534-6477534
28 PLEKHG5 NM_020631.5(PLEKHG5):c.1610G>A (p.Arg537Gln) SNV Uncertain significance 536775 rs1322468026 GRCh37: 1:6530636-6530636
GRCh38: 1:6470576-6470576
29 PLEKHG5 NM_020631.5(PLEKHG5):c.161G>A (p.Ser54Asn) SNV Uncertain significance 536783 rs376703933 GRCh37: 1:6535571-6535571
GRCh38: 1:6475511-6475511
30 PLEKHG5 NM_020631.5(PLEKHG5):c.1170C>G (p.Ile390Met) SNV Uncertain significance 663300 rs771928245 GRCh37: 1:6531659-6531659
GRCh38: 1:6471599-6471599
31 PLEKHG5 NM_020631.5(PLEKHG5):c.995G>A (p.Arg332Gln) SNV Uncertain significance 663540 rs769390222 GRCh37: 1:6532672-6532672
GRCh38: 1:6472612-6472612
32 PLEKHG5 NM_020631.5(PLEKHG5):c.1304A>G (p.Tyr435Cys) SNV Uncertain significance 665119 rs1569857188 GRCh37: 1:6531138-6531138
GRCh38: 1:6471078-6471078
33 PLEKHG5 NM_020631.6(PLEKHG5):c.1131+5G>T SNV Uncertain significance 951309 GRCh37: 1:6531813-6531813
GRCh38: 1:6471753-6471753
34 PLEKHG5 NM_020631.6(PLEKHG5):c.951G>C (p.Glu317Asp) SNV Uncertain significance 953629 GRCh37: 1:6533079-6533079
GRCh38: 1:6473019-6473019
35 PLEKHG5 NM_020631.6(PLEKHG5):c.271A>T (p.Ile91Phe) SNV Uncertain significance 958055 GRCh37: 1:6535138-6535138
GRCh38: 1:6475078-6475078
36 PLEKHG5 NM_020631.6(PLEKHG5):c.517C>G (p.Arg173Gly) SNV Uncertain significance 960211 GRCh37: 1:6534147-6534147
GRCh38: 1:6474087-6474087
37 PLEKHG5 NM_020631.6(PLEKHG5):c.961C>T (p.Arg321Trp) SNV Uncertain significance 962560 GRCh37: 1:6533069-6533069
GRCh38: 1:6473009-6473009
38 PLEKHG5 NM_020631.6(PLEKHG5):c.917A>G (p.Asp306Gly) SNV Uncertain significance 965968 GRCh37: 1:6533113-6533113
GRCh38: 1:6473053-6473053
39 PLEKHG5 NM_020631.5(PLEKHG5):c.572G>A (p.Arg191Gln) SNV Uncertain significance 468917 rs541234129 GRCh37: 1:6534092-6534092
GRCh38: 1:6474032-6474032
40 PLEKHG5 NM_020631.5(PLEKHG5):c.168C>T (p.Gly56=) SNV Uncertain significance 536767 rs1366828227 GRCh37: 1:6535564-6535564
GRCh38: 1:6475504-6475504
41 PLEKHG5 NM_020631.5(PLEKHG5):c.2489T>C (p.Phe830Ser) SNV Uncertain significance 536768 rs764007395 GRCh37: 1:6528407-6528407
GRCh38: 1:6468347-6468347
42 PLEKHG5 NM_020631.5(PLEKHG5):c.1270G>A (p.Gly424Ser) SNV Uncertain significance 536772 rs1366436495 GRCh37: 1:6531559-6531559
GRCh38: 1:6471499-6471499
43 PLEKHG5 NM_020631.5(PLEKHG5):c.916G>A (p.Asp306Asn) SNV Uncertain significance 536773 rs781614887 GRCh37: 1:6533114-6533114
GRCh38: 1:6473054-6473054
44 PLEKHG5 NM_020631.5(PLEKHG5):c.2268G>A (p.Thr756=) SNV Uncertain significance 536776 rs757831916 GRCh37: 1:6528628-6528628
GRCh38: 1:6468568-6468568
45 PLEKHG5 NM_020631.5(PLEKHG5):c.1513C>T (p.Pro505Ser) SNV Uncertain significance 536777 rs530846615 GRCh37: 1:6530824-6530824
GRCh38: 1:6470764-6470764
46 PLEKHG5 NM_020631.5(PLEKHG5):c.1396G>C (p.Ala466Pro) SNV Uncertain significance 536779 rs757292650 GRCh37: 1:6530941-6530941
GRCh38: 1:6470881-6470881
47 PLEKHG5 NM_020631.5(PLEKHG5):c.1346T>C (p.Met449Thr) SNV Uncertain significance 536780 rs1553174146 GRCh37: 1:6531096-6531096
GRCh38: 1:6471036-6471036
48 PLEKHG5 NM_020631.5(PLEKHG5):c.2728C>T (p.Pro910Ser) SNV Uncertain significance 536782 rs1334075760 GRCh37: 1:6528168-6528168
GRCh38: 1:6468108-6468108
49 PLEKHG5 NM_020631.5(PLEKHG5):c.1081-3C>T SNV Uncertain significance 536785 rs772519809 GRCh37: 1:6531871-6531871
GRCh38: 1:6471811-6471811
50 PLEKHG5 NM_020631.5(PLEKHG5):c.1681-27_1681-3dup Duplication Uncertain significance 536787 rs748372368 GRCh37: 1:6530417-6530418
GRCh38: 1:6470357-6470358

UniProtKB/Swiss-Prot genetic disease variations for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4:

72
# Symbol AA change Variation ID SNP ID
1 PLEKHG5 p.Phe703Ser VAR_035357 rs63750315

Expression for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

Search GEO for disease gene expression data for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4.

Pathways for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

Pathways related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.62 UBQLN2 TARDBP SQSTM1 SPG11 SOD1 SETX
2 11.89 TARDBP SOD1 PARK7 OPTN DCTN1
3 11.73 TARDBP SMN2 SMN1 FUS

GO Terms for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

Cellular components related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.26 UBQLN2 SQSTM1 SPG11 SOD1 SMN2 SMN1
2 nucleoplasm GO:0005654 10.24 TARDBP SYNE1 SQSTM1 SOD1 SMN2 SMN1
3 cytoplasm GO:0005737 10.16 UBQLN2 TARDBP SYNE1 SQSTM1 SPG11 SOD1
4 nucleus GO:0005634 10.06 UBQLN2 TARDBP SYNE1 SQSTM1 SPG11 SOD1
5 cell projection GO:0042995 10.03 SPG11 SMN2 SMN1 SETX PLEKHG5 C9orf72
6 cytoplasmic vesicle GO:0031410 9.91 UBQLN2 SQSTM1 SPG11 SOD1 OPTN C9orf72
7 neuronal cell body GO:0043025 9.85 SOD1 FUS DCTN1 ANG ALS2
8 perikaryon GO:0043204 9.73 SMN2 SMN1 FUS C9orf72
9 growth cone GO:0030426 9.71 SETX C9orf72 ANG ALS2
10 P-body GO:0000932 9.7 SYNE1 SQSTM1 C9orf72
11 autophagosome GO:0005776 9.62 UBQLN2 SQSTM1 OPTN C9orf72
12 SMN-Sm protein complex GO:0034719 9.55 SMN2 SMN1
13 Gemini of coiled bodies GO:0097504 9.51 SMN2 SMN1
14 neuron projection GO:0043005 9.5 SOD1 SMN2 SMN1 PARK7 DCTN1 C9orf72
15 SMN complex GO:0032797 9.49 SMN2 SMN1
16 axon GO:0030424 9.28 SPG11 SMN2 SMN1 SETX PLEKHG5 PARK7

Biological processes related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA splicing GO:0008380 9.71 TARDBP SMN2 SMN1 FUS
2 cellular response to oxidative stress GO:0034599 9.54 SOD1 SETX PARK7
3 import into nucleus GO:0051170 9.43 SMN2 SMN1
4 negative regulation of protein phosphorylation GO:0001933 9.43 TARDBP PARK7 C9orf72
5 autophagy GO:0006914 9.35 UBQLN2 SQSTM1 PARK7 OPTN C9orf72
6 regulation of autophagosome assembly GO:2000785 9.32 UBQLN2 C9orf72
7 positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway GO:1902177 9.16 SOD1 PARK7
8 DNA-templated transcription, termination GO:0006353 8.8 SMN2 SMN1 SETX

Molecular functions related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.33 UBQLN2 TARDBP SYNE1 SQSTM1 SPG11 SOD1
2 RNA binding GO:0003723 9.7 TARDBP SYNE1 SMN2 SMN1 SETX PARK7
3 enzyme binding GO:0019899 9.67 SYNE1 SQSTM1 SOD1 PARK7
4 small GTPase binding GO:0031267 9.56 SOD1 OPTN C9orf72 ALS2
5 identical protein binding GO:0042802 9.36 UBQLN2 TARDBP SQSTM1 SOD1 SMN2 SMN1
6 K63-linked polyubiquitin modification-dependent protein binding GO:0070530 9.32 SQSTM1 OPTN
7 copper ion binding GO:0005507 9.13 SOD1 PARK7 ANG

Sources for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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