SMAX2
MCID: SPN402
MIFTS: 48

Spinal Muscular Atrophy, X-Linked 2 (SMAX2)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spinal Muscular Atrophy, X-Linked 2

MalaCards integrated aliases for Spinal Muscular Atrophy, X-Linked 2:

Name: Spinal Muscular Atrophy, X-Linked 2 57 43 29 6
Arthrogryposis Multiplex Congenita, Distal, X-Linked 57 74 20 43 44 71
Smax2 57 12 43 58 73
Xlsma 57 43 73
Amcx1 57 43 73
Spinal Muscular Atrophy, X-Linked Lethal Infantile 57 43
X-Linked Distal Arthrogryposis Multiplex Congenita 12 58
Infantile-Onset X-Linked Spinal Muscular Atrophy 12 58
Spinal Muscular Atrophy, X-Linked 2, Infantile 57 13
Spinal Muscular Atrophy, Infantile X-Linked 57 43
Spinal Muscular Atrophy with Arthrogryposis 12 58
X-Linked Spinal Muscular Atrophy Type 2 12 58
Arthrogryposis Spinal Muscular Atrophy 74 20
X-Linked Spinal Muscular Atrophy 2 12 15
Amc, Distal, X-Linked 57 20
Xl-Sma 25 43
Atrophy, Muscular, Spinal, X-Linked, Type 2, Infantile 39
Spinal Muscular Atrophy, Infantile X-Linked; Xlsma 57
Arthrogryposis Multiplex Congenita Distal X-Linked 73
Spinal Muscular Atrophy X-Linked Lethal Infantile 73
Spinal Muscular Atrophy, X-Linked Infantile 25
X-Linked Arthrogryposis Multiplex Congenita 43
X-Linked Infantile Spinal Muscular Atrophy 43
Spinal Muscular Atrophy Infantile X-Linked 73
Arthrogryposis, X-Linked, Type I; Amcx1 57
Spinal Muscular Atrophy X-Linked 2 73
Arthrogryposis, X-Linked, Type I 57
Arthrogryposis, X-Lined, Type I 43
X-Linked Arthrogryposis Type I 43
Arthrogryposis X-Linked Type I 73
X-Linked Lethal Infantile Sma 43
Infantile X-Linked Sma 43
Distal X-Linked Amc 43
Amc Distal X-Linked 73

Characteristics:

Orphanet epidemiological data:

58
infantile-onset x-linked spinal muscular atrophy
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: adolescent,early childhood,infantile,late childhood;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
x-linked recessive

Miscellaneous:
death usually in infancy due to respiratory failure
increased spontaneous abortions in carrier mothers


HPO:

31
spinal muscular atrophy, x-linked 2:
Inheritance x-linked recessive inheritance


GeneReviews:

25
Penetrance Evidence suggests that the disorder is fully penetrant in hemizygous males.

Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Spinal Muscular Atrophy, X-Linked 2

OMIM® : 57 X-linked spinal muscular atrophy-2 (SMAX2) is characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures, known as arthrogryposis, associated with loss of anterior horn cells and infantile death (summary by Ramser et al., 2008). Historically, Hall et al. (1982) distinguished at least 3 clinical varieties of X-linked arthrogryposis. (1) One family had a severe lethal form with severe contractures, scoliosis, chest deformities, hypotonia, micrognathia, and death from respiratory insufficiency by age 3 months. Apparently progressive loss of anterior horn cells was the cause. (2) Two families had moderately severe AMC associated with ptosis, microphallus, cryptorchidism, inguinal hernias, and normal intelligence. Nonprogressive intrauterine myopathy appeared to be the 'cause'. (3) In 2 families and a sporadic case, the disorder took the form of a resolving AMC, with mild to moderate contractures improving dramatically with time, normal intelligence, and no other anomalies; tight connective tissues on misplaced tendons was postulated. (301830) (Updated 05-Mar-2021)

MalaCards based summary : Spinal Muscular Atrophy, X-Linked 2, also known as arthrogryposis multiplex congenita, distal, x-linked, is related to spinal muscular atrophy and muscular atrophy, and has symptoms including facial paresis An important gene associated with Spinal Muscular Atrophy, X-Linked 2 is UBA1 (Ubiquitin Like Modifier Activating Enzyme 1). The drugs Racepinephrine and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, testes and tongue, and related phenotypes are gait disturbance and joint stiffness

Disease Ontology : 12 A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has material basis in hemizygous mutation in UBA1 on chromosome Xp11.3.

MedlinePlus Genetics : 43 X-linked infantile spinal muscular atrophy is a condition that affects only boys and is characterized by severe muscle weakness and absent reflexes (areflexia). Affected children often have multiple joint deformities (contractures) from birth that cause joint stiffness (arthrogryposis) and impair movement. In severe cases, affected infants are born with broken bones. The muscle weakness worsens over time; affected children reach some early motor developmental milestones, such as sitting unassisted, but these skills are often lost (developmental regression).Additional features of X-linked infantile spinal muscular atrophy include an unusually small chin (micrognathia), abnormal curvature of the spine (scoliosis or kyphosis), and undescended testes (cryptorchidism).Weakness of the chest muscles used for breathing often leads to life-threatening breathing problems. Children with X-linked infantile spinal muscular atrophy usually do not survive past early childhood due to respiratory failure, although, in rare cases, affected individuals can survive into adolescence.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1145DefinitionX-linked distal arthrogryposis multiplex congenital (SMAX2) is a rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.Visit the Orphanet disease page for more resources.

UniProtKB/Swiss-Prot : 73 Spinal muscular atrophy X-linked 2: A lethal infantile form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Clinical features include hypotonia, areflexia, and multiple congenital contractures.

Wikipedia : 74 Arthrogryposis, describes congenital joint contracture in two or more areas of the body. It derives its... more...

GeneReviews: NBK2594

Related Diseases for Spinal Muscular Atrophy, X-Linked 2

Diseases related to Spinal Muscular Atrophy, X-Linked 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy 29.4 UBA1 SMN2 SMN1 IGHMBP2
2 muscular atrophy 29.4 UBA1 SMN2 SMN1 IGHMBP2
3 neuromuscular disease 29.1 SMN2 SMN1 IGHMBP2
4 scoliosis 10.2
5 constipation 10.2
6 motor neuron disease 10.2
7 congenital contractures 10.2
8 hypotonia 10.1
9 congenital amyoplasia 10.1
10 spinal muscular atrophy type 0 10.0 SMN2 SMN1
11 nephrolithiasis/osteoporosis, hypophosphatemic, 2 10.0 SMN2 SMN1
12 chronic inflammatory demyelinating polyneuritis 10.0 SMN2 SMN1
13 proximal spinal muscular atrophy 10.0 SMN2 SMN1
14 spinal muscular atrophy, distal, autosomal recessive, 4 10.0 SMN2 SMN1
15 dubowitz syndrome 10.0 SMN2 SMN1
16 spinal muscular atrophy with progressive myoclonic epilepsy 10.0 SMN2 SMN1
17 progressive muscular atrophy 10.0 SMN2 SMN1
18 muscular disease 9.9 SMN2 SMN1
19 spinal muscular atrophy, type iv 9.9 SMN2 SMN1
20 neuropathy, hereditary sensory and autonomic, type iii 9.9 SMN2 SMN1
21 cryptorchidism, unilateral or bilateral 9.9
22 respiratory failure 9.9
23 tay-sachs disease 9.8 SMN2 SMN1
24 spinal and bulbar muscular atrophy, x-linked 1 9.8 SMN2 SMN1
25 charcot-marie-tooth disease, axonal, type 2t 9.7 IGHMBP2 GAN
26 neuronopathy, distal hereditary motor, type va 9.7 SMN1 IGHMBP2
27 muscle tissue disease 9.7 SMN2 SMN1
28 autosomal recessive distal hereditary motor neuronopathy 9.6 SMN2 SMN1 IGHMBP2
29 anterior horn cell disease 9.6 SMN2 SMN1 IGHMBP2
30 spinal muscular atrophy, distal, autosomal recessive, 1 9.6 SMN2 SMN1 IGHMBP2
31 childhood spinal muscular atrophy 9.6 SMN2 SMN1 IGHMBP2
32 spinal muscular atrophy, type i 9.6 SMN2 SMN1 IGHMBP2
33 spinal muscular atrophy, type ii 9.6 SMN2 SMN1 IGHMBP2
34 spinal muscular atrophy, type iii 9.6 SMN2 SMN1 IGHMBP2
35 peripheral nervous system disease 9.6 SMN2 SMN1 GAN
36 charcot-marie-tooth disease, axonal, type 2e 9.2 SMN2 SMN1 IGHMBP2 GAN

Graphical network of the top 20 diseases related to Spinal Muscular Atrophy, X-Linked 2:



Diseases related to Spinal Muscular Atrophy, X-Linked 2

Symptoms & Phenotypes for Spinal Muscular Atrophy, X-Linked 2

Human phenotypes related to Spinal Muscular Atrophy, X-Linked 2:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait disturbance 58 31 hallmark (90%) Very frequent (99-80%) HP:0001288
2 joint stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387
3 camptodactyly of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0100490
4 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
5 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
6 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
7 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
8 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
9 cognitive impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100543
10 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
11 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
12 failure to thrive in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0001531
13 dolichocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000268
14 bilateral single transverse palmar creases 58 31 frequent (33%) Frequent (79-30%) HP:0007598
15 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
16 adducted thumb 58 31 frequent (33%) Frequent (79-30%) HP:0001181
17 narrow chest 58 31 frequent (33%) Frequent (79-30%) HP:0000774
18 proximal placement of thumb 58 31 frequent (33%) Frequent (79-30%) HP:0009623
19 hypotonia 31 frequent (33%) HP:0001252
20 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
21 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
22 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
23 wide intermamillary distance 58 31 occasional (7.5%) Occasional (29-5%) HP:0006610
24 thickened nuchal skin fold 58 31 occasional (7.5%) Occasional (29-5%) HP:0000474
25 abnormal fingernail morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001231
26 open mouth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000194
27 hypoplasia of penis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008736
28 seizure 31 occasional (7.5%) HP:0001250
29 skin dimple 31 occasional (7.5%) HP:0010781
30 seizures 58 Occasional (29-5%)
31 facial palsy 31 HP:0010628
32 muscular hypotonia 58 Frequent (79-30%)
33 respiratory insufficiency 31 HP:0002093
34 inguinal hernia 31 HP:0000023
35 myopathy 31 HP:0003198
36 respiratory insufficiency due to muscle weakness 31 HP:0002747
37 multiple joint contractures 31 HP:0002828
38 micropenis 31 HP:0000054
39 areflexia 31 HP:0001284
40 hypospadias 31 HP:0000047
41 decreased fetal movement 31 HP:0001558
42 skin dimples 58 Occasional (29-5%)
43 arthrogryposis multiplex congenita 31 HP:0002804
44 severe muscular hypotonia 31 HP:0006829
45 abnormality of metabolism/homeostasis 31 HP:0001939
46 degeneration of anterior horn cells 31 HP:0002398
47 myopathic facies 31 HP:0002058
48 tongue fasciculations 31 HP:0001308
49 spinal muscular atrophy 31 HP:0007269

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal:
multiple joint contractures
arthrogryposis
bone fractures (at birth and postnatal)

Genitourinary External Genitalia Male:
hypospadias

Head And Neck Mouth:
tongue fasciculations

Muscle Soft Tissue:
hypotonia, severe
muscle biopsy shows neurogenic atrophy affecting both fibers types
denervation of skeletal muscles

Chest External Features:
chest deformities

Skeletal Skull:
dysmorphic skull

Respiratory:
respiratory insufficiency due to muscle weakness

Neurologic Peripheral Nervous System:
areflexia

Head And Neck Face:
myopathic facies
facial weakness

Skeletal Hands:
digital contractures

Neurologic Central Nervous System:
hypotonia, severe
loss of anterior horn cells

Prenatal Manifestations Movement:
decreased fetal movements

Clinical features from OMIM®:

301830 (Updated 05-Mar-2021)

UMLS symptoms related to Spinal Muscular Atrophy, X-Linked 2:


facial paresis

Drugs & Therapeutics for Spinal Muscular Atrophy, X-Linked 2

Drugs for Spinal Muscular Atrophy, X-Linked 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Racepinephrine Approved 329-65-7 838
2
Epinephrine Approved, Vet_approved 51-43-4 5816
3 Epinephryl borate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Multi-center Clinical Study on the Diagnosis and Treatment Management of Rare Neurological Disease in Children Not yet recruiting NCT03649919

Search NIH Clinical Center for Spinal Muscular Atrophy, X-Linked 2

Cochrane evidence based reviews: arthrogryposis multiplex congenita, distal, x-linked

Genetic Tests for Spinal Muscular Atrophy, X-Linked 2

Genetic tests related to Spinal Muscular Atrophy, X-Linked 2:

# Genetic test Affiliating Genes
1 Spinal Muscular Atrophy, X-Linked 2 29 UBA1

Anatomical Context for Spinal Muscular Atrophy, X-Linked 2

MalaCards organs/tissues related to Spinal Muscular Atrophy, X-Linked 2:

40
Spinal Cord, Testes, Tongue, Bone

Publications for Spinal Muscular Atrophy, X-Linked 2

Articles related to Spinal Muscular Atrophy, X-Linked 2:

(show all 28)
# Title Authors PMID Year
1
Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. 25 6 57
18179898 2008
2
X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping. 57 25
17224690 2007
3
A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3-q11.2. 57 25
8528211 1995
4
X-linked infantile spinal muscular atrophy. 57 25
3341327 1988
5
Three distinct types of X-linked arthrogryposis seen in 6 families. 25 57
7200838 1982
6
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. 25
20170900 2010
7
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. 25
20037587 2010
8
Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. 25
18204449 2008
9
Modern management of spinal muscular atrophy. 25
17761652 2007
10
Consensus statement for standard of care in spinal muscular atrophy. 25
17761659 2007
11
Severe lethal spinal muscular atrophy variant with arthrogryposis. 25
15730903 2005
12
A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21. 25
14985388 2004
13
A comparison of the mutation spectra of Menkes disease and Wilson disease. 25
14579150 2004
14
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). 25
14681881 2003
15
Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy. 25
12548734 2003
16
Severe spinal muscular atrophy variant associated with congenital bone fractures. 25
12503654 2002
17
Anterior horn cell disease and olivopontocerebellar hypoplasia. 25
11020648 2000
18
Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals. 25
9683599 1998
19
Newly described form of X-linked arthrogryposis maps to the long arm of the human X chromosome. 25
9714012 1998
20
SMA type 2 unrelated to chromosome 5q13. 25
9450884 1998
21
Dominant congenital benign spinal muscular atrophy. 25
8114789 1994
22
A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features. 25
1520078 1992
23
Clinical variability of autosomal dominant spinal muscular atrophy. 25
1578236 1992
24
A family with severe X-linked arthrogryposis. 25
1915520 1991
25
X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype. 61
31932168 2020
26
A Pathogenic Missense Variant (c.1617G>A, p.Met539Ile) in UBA1 Causing Infantile X-Linked Spinal Muscular Atrophy (SMAX2). 61
32181232 2020
27
X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C>T substitution in the UBA1 gene. 61
26028276 2015
28
Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene. 61
23518311 2013

Variations for Spinal Muscular Atrophy, X-Linked 2

ClinVar genetic disease variations for Spinal Muscular Atrophy, X-Linked 2:

6 (show top 50) (show all 139)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 UBA1 NM_003334.4(UBA1):c.1617G>T (p.Met539Ile) SNV Pathogenic 9780 rs80356545 X:47065388-47065388 X:47205989-47205989
2 UBA1 NM_003334.4(UBA1):c.1639A>G (p.Ser547Gly) SNV Pathogenic 9781 rs80356546 X:47065410-47065410 X:47206011-47206011
3 UBA1 NM_003334.4(UBA1):c.1731C>T (p.Asn577=) SNV Pathogenic 9782 rs80356547 X:47065502-47065502 X:47206103-47206103
4 UBA1 NM_003334.4(UBA1):c.-178G>A SNV Uncertain significance 368327 rs1057515898 X:47053246-47053246 X:47193847-47193847
5 UBA1 NM_003334.4(UBA1):c.2838+7del Deletion Uncertain significance 368345 rs1057515899 X:47072583-47072583 X:47213184-47213184
6 UBA1 NM_003334.4(UBA1):c.*123C>T SNV Uncertain significance 368349 rs1057515900 X:47074451-47074451 X:47215052-47215052
7 UBA1 NM_003334.4(UBA1):c.1159G>A (p.Ala387Thr) SNV Uncertain significance 465029 rs1556788813 X:47062139-47062139 X:47202740-47202740
8 UBA1 NM_003334.4(UBA1):c.2838+8C>T SNV Uncertain significance 368346 rs782075261 X:47072588-47072588 X:47213189-47213189
9 UBA1 NM_003334.4(UBA1):c.1853A>G (p.Tyr618Cys) SNV Uncertain significance 465032 rs1556791125 X:47065758-47065758 X:47206359-47206359
10 UBA1 NM_003334.4(UBA1):c.2830C>T (p.Arg944Cys) SNV Uncertain significance 548565 rs1556794074 X:47072572-47072572 X:47213173-47213173
11 UBA1 NM_003334.4(UBA1):c.2452A>G (p.Asn818Asp) SNV Uncertain significance 573068 rs1569216553 X:47070612-47070612 X:47211213-47211213
12 UBA1 NM_003334.4(UBA1):c.2540T>C (p.Ile847Thr) SNV Uncertain significance 574260 rs1556793806 X:47071898-47071898 X:47212499-47212499
13 UBA1 NM_003334.4(UBA1):c.1924G>C (p.Glu642Gln) SNV Uncertain significance 577636 rs1318594436 X:47065829-47065829 X:47206430-47206430
14 UBA1 NM_003334.4(UBA1):c.878G>A (p.Ser293Asn) SNV Uncertain significance 501333 rs1365209491 X:47061621-47061621 X:47202222-47202222
15 UBA1 NM_003334.4(UBA1):c.1049G>A (p.Arg350His) SNV Uncertain significance 578608 rs5906354 X:47061896-47061896 X:47202497-47202497
16 UBA1 NM_003334.4(UBA1):c.2474G>A (p.Arg825His) SNV Uncertain significance 580504 rs781852793 X:47071832-47071832 X:47212433-47212433
17 UBA1 NM_003334.4(UBA1):c.2626C>G (p.Pro876Ala) SNV Uncertain significance 582593 rs782749176 X:47072242-47072242 X:47212843-47212843
18 UBA1 NM_003334.4(UBA1):c.3127G>A (p.Glu1043Lys) SNV Uncertain significance 639393 rs782810802 X:47074278-47074278 X:47214879-47214879
19 UBA1 NM_003334.4(UBA1):c.106G>A (p.Val36Met) SNV Uncertain significance 640059 rs990805894 X:47058307-47058307 X:47198908-47198908
20 UBA1 NM_003334.4(UBA1):c.1033C>T (p.Arg345Trp) SNV Uncertain significance 643893 rs139130383 X:47061880-47061880 X:47202481-47202481
21 UBA1 NM_003334.4(UBA1):c.1013A>G (p.Gln338Arg) SNV Uncertain significance 644043 rs550631811 X:47061860-47061860 X:47202461-47202461
22 UBA1 NM_003334.4(UBA1):c.1151G>A (p.Arg384Gln) SNV Uncertain significance 647851 rs781909775 X:47062131-47062131 X:47202732-47202732
23 UBA1 NM_003334.4(UBA1):c.2270A>G (p.Asn757Ser) SNV Uncertain significance 648255 rs1556793160 X:47070311-47070311 X:47210912-47210912
24 UBA1 NM_003334.4(UBA1):c.910-9C>G SNV Uncertain significance 649688 rs1602632158 X:47061748-47061748 X:47202349-47202349
25 UBA1 NM_003334.4(UBA1):c.2750G>T (p.Arg917Leu) SNV Uncertain significance 650144 rs782409785 X:47072492-47072492 X:47213093-47213093
26 UBA1 NM_003334.4(UBA1):c.1117G>A (p.Val373Met) SNV Uncertain significance 651204 rs782354395 X:47062097-47062097 X:47202698-47202698
27 UBA1 NM_003334.4(UBA1):c.1052A>G (p.Asn351Ser) SNV Uncertain significance 655276 rs782429883 X:47061899-47061899 X:47202500-47202500
28 UBA1 NM_003334.4(UBA1):c.1469T>C (p.Ile490Thr) SNV Uncertain significance 655479 rs1602635435 X:47062989-47062989 X:47203590-47203590
29 UBA1 NM_003334.4(UBA1):c.2584A>G (p.Ile862Val) SNV Uncertain significance 656993 rs1351999233 X:47072200-47072200 X:47212801-47212801
30 UBA1 NM_003334.4(UBA1):c.2987T>A (p.Met996Lys) SNV Uncertain significance 658741 rs1602662535 X:47073982-47073982 X:47214583-47214583
31 UBA1 NM_003334.4(UBA1):c.559G>T (p.Val187Leu) SNV Uncertain significance 659059 rs1556787682 X:47060371-47060371 X:47200972-47200972
32 UBA1 NM_003334.4(UBA1):c.1775G>A (p.Arg592Gln) SNV Uncertain significance 659218 rs1215231057 X:47065680-47065680 X:47206281-47206281
33 UBA1 NM_003334.4(UBA1):c.1318A>C (p.Thr440Pro) SNV Uncertain significance 660014 rs1028156593 X:47062426-47062426 X:47203027-47203027
34 UBA1 NM_003334.4(UBA1):c.1730A>G (p.Asn577Ser) SNV Uncertain significance 661573 rs1556790852 X:47065501-47065501 X:47206102-47206102
35 UBA1 NM_003334.4(UBA1):c.734G>A (p.Gly245Glu) SNV Uncertain significance 533609 rs1409013948 X:47060932-47060932 X:47201533-47201533
36 UBA1 NM_003334.4(UBA1):c.1048C>T (p.Arg350Cys) SNV Uncertain significance 533610 rs1556788657 X:47061895-47061895 X:47202496-47202496
37 UBA1 NM_003334.4(UBA1):c.574C>T (p.Arg192Trp) SNV Uncertain significance 533611 rs185589110 X:47060386-47060386 X:47200987-47200987
38 UBA1 NM_003334.4(UBA1):c.2622C>A (p.Asp874Glu) SNV Uncertain significance 533612 rs1556793890 X:47072238-47072238 X:47212839-47212839
39 UBA1 NM_003334.4(UBA1):c.1404G>T (p.Lys468Asn) SNV Uncertain significance 533613 rs782565391 X:47062598-47062598 X:47203199-47203199
40 UBA1 NM_003334.4(UBA1):c.2464+6_2464+9del Deletion Uncertain significance 533614 rs1175155400 X:47070629-47070632 X:47211230-47211233
41 UBA1 NM_003334.4(UBA1):c.-45C>T SNV Uncertain significance 914749 X:47053379-47053379 X:47193980-47193980
42 UBA1 NM_003334.4(UBA1):c.105G>A (p.Ser35=) SNV Uncertain significance 914750 X:47058306-47058306 X:47198907-47198907
43 UBA1 NM_003334.4(UBA1):c.613G>A (p.Glu205Lys) SNV Uncertain significance 914751 X:47060700-47060700 X:47201301-47201301
44 UBA1 NM_003334.4(UBA1):c.2839-3C>T SNV Uncertain significance 914801 X:47073723-47073723 X:47214324-47214324
45 UBA1 NM_003334.4(UBA1):c.1027C>T (p.His343Tyr) SNV Uncertain significance 931072 X:47061874-47061874 X:47202475-47202475
46 UBA1 NM_003334.4(UBA1):c.1630C>T (p.Arg544Trp) SNV Uncertain significance 931743 X:47065401-47065401 X:47206002-47206002
47 UBA1 NM_003334.4(UBA1):c.2653C>A (p.Leu885Met) SNV Uncertain significance 933400 X:47072395-47072395 X:47212996-47212996
48 UBA1 NM_003334.4(UBA1):c.1673G>A (p.Arg558His) SNV Uncertain significance 935154 X:47065444-47065444 X:47206045-47206045
49 UBA1 NM_003334.4(UBA1):c.1189A>G (p.Ile397Val) SNV Uncertain significance 938029 X:47062169-47062169 X:47202770-47202770
50 UBA1 NM_003334.4(UBA1):c.1103G>A (p.Arg368Gln) SNV Uncertain significance 938079 X:47062083-47062083 X:47202684-47202684

UniProtKB/Swiss-Prot genetic disease variations for Spinal Muscular Atrophy, X-Linked 2:

73
# Symbol AA change Variation ID SNP ID
1 UBA1 p.Met539Ile VAR_043501 rs80356545
2 UBA1 p.Ser547Gly VAR_043502 rs80356546
3 UBA1 p.Glu557Val VAR_071121

Expression for Spinal Muscular Atrophy, X-Linked 2

Search GEO for disease gene expression data for Spinal Muscular Atrophy, X-Linked 2.

Pathways for Spinal Muscular Atrophy, X-Linked 2

GO Terms for Spinal Muscular Atrophy, X-Linked 2

Cellular components related to Spinal Muscular Atrophy, X-Linked 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.5 SMN2 SMN1 IGHMBP2
2 Z disc GO:0030018 9.43 SMN2 SMN1
3 nuclear body GO:0016604 9.43 SMN2 SMN1 IGHMBP2
4 cytoplasmic ribonucleoprotein granule GO:0036464 9.4 SMN2 SMN1
5 Cajal body GO:0015030 9.37 SMN2 SMN1
6 SMN-Sm protein complex GO:0034719 9.16 SMN2 SMN1
7 Gemini of coiled bodies GO:0097504 8.96 SMN2 SMN1
8 SMN complex GO:0032797 8.62 SMN2 SMN1

Biological processes related to Spinal Muscular Atrophy, X-Linked 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA recombination GO:0006310 9.32 RPA4 IGHMBP2
2 spliceosomal snRNP assembly GO:0000387 9.26 SMN2 SMN1
3 spliceosomal complex assembly GO:0000245 9.16 SMN2 SMN1
4 import into nucleus GO:0051170 8.96 SMN2 SMN1
5 DNA-templated transcription, termination GO:0006353 8.62 SMN2 SMN1

Molecular functions related to Spinal Muscular Atrophy, X-Linked 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 single-stranded DNA binding GO:0003697 8.96 RPA4 IGHMBP2
2 RNA binding GO:0003723 8.92 UBA1 SMN2 SMN1 IGHMBP2

Sources for Spinal Muscular Atrophy, X-Linked 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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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