SMAX2
MCID: SPN402
MIFTS: 40

Spinal Muscular Atrophy, X-Linked 2 (SMAX2)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle 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 56 25 29 6
Arthrogryposis Multiplex Congenita, Distal, X-Linked 56 74 52 25 71
Smax2 56 25 58 73
Xlsma 56 25 73
Amcx1 56 25 73
Spinal Muscular Atrophy, X-Linked Lethal Infantile 56 25
Spinal Muscular Atrophy, X-Linked 2, Infantile 56 13
Spinal Muscular Atrophy, Infantile X-Linked 56 25
Amc, Distal, X-Linked 56 52
Xl-Sma 24 25
Atrophy, Muscular, Spinal, X-Linked, Type 2, Infantile 39
Spinal Muscular Atrophy, Infantile X-Linked; Xlsma 56
X-Linked Distal Arthrogryposis Multiplex Congenita 58
Arthrogryposis Multiplex Congenita Distal X-Linked 73
Spinal Muscular Atrophy X-Linked Lethal Infantile 73
Infantile-Onset X-Linked Spinal Muscular Atrophy 58
Spinal Muscular Atrophy, X-Linked Infantile 24
X-Linked Arthrogryposis Multiplex Congenita 25
Spinal Muscular Atrophy with Arthrogryposis 58
X-Linked Infantile Spinal Muscular Atrophy 25
Spinal Muscular Atrophy Infantile X-Linked 73
Arthrogryposis, X-Linked, Type I; Amcx1 56
X-Linked Spinal Muscular Atrophy Type 2 58
Spinal Muscular Atrophy X-Linked 2 73
Arthrogryposis, X-Linked, Type I 56
Arthrogryposis, X-Lined, Type I 25
X-Linked Arthrogryposis Type I 25
Arthrogryposis X-Linked Type I 73
X-Linked Lethal Infantile Sma 25
Infantile X-Linked Sma 25
Distal X-Linked Amc 25
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:

56
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:

24
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 : 56 X-linked infantile spinal muscular atrophy (XL-SMA) 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)

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 Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include bone, spinal cord and testes, and related phenotypes are gait disturbance and joint stiffness

Genetics Home Reference : 25 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.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1145 Definition X-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 multiplex congenita (AMC), or simply arthrogryposis, describes congenital joint... 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 12)
# Related Disease Score Top Affiliating Genes
1 spinal muscular atrophy 10.4
2 muscular atrophy 10.4
3 hypotonia 10.4
4 congenital contractures 10.3
5 alkuraya-kucinskas syndrome 10.3
6 congenital amyoplasia 10.3
7 scoliosis 10.2
8 constipation 10.2
9 motor neuron disease 10.2
10 cryptorchidism, unilateral or bilateral 10.1
11 respiratory failure 10.1
12 neuromuscular disease 10.1

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

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Internal Genitalia Male:
cryptorchidism

Neurologic Peripheral Nervous System:
areflexia

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

Head And Neck Face:
myopathic facies
facial weakness

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

Head And Neck Mouth:
tongue fasciculations

Genitourinary External Genitalia Male:
hypospadias

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

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
Epinephrine Approved, Vet_approved 51-43-4 5816
2
Racepinephrine Approved 329-65-7 838
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

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
Bone, Spinal Cord, Testes, Skin, Skeletal Muscle, Tongue

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. 24 56 6
18179898 2008
2
X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping. 24 56
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. 24 56
8528211 1995
4
X-linked infantile spinal muscular atrophy. 24 56
3341327 1988
5
Three distinct types of X-linked arthrogryposis seen in 6 families. 24 56
7200838 1982
6
Spinal Muscular Atrophy, X-Linked Infantile 6
20301739 2008
7
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy. 24
20170900 2010
8
Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4. 24
20037587 2010
9
Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. 24
18204449 2008
10
Modern management of spinal muscular atrophy. 24
17761652 2007
11
Consensus statement for standard of care in spinal muscular atrophy. 24
17761659 2007
12
Severe lethal spinal muscular atrophy variant with arthrogryposis. 24
15730903 2005
13
A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21. 24
14985388 2004
14
A comparison of the mutation spectra of Menkes disease and Wilson disease. 24
14579150 2004
15
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). 24
14681881 2003
16
Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy. 24
12548734 2003
17
Severe spinal muscular atrophy variant associated with congenital bone fractures. 24
12503654 2002
18
Anterior horn cell disease and olivopontocerebellar hypoplasia. 24
11020648 2000
19
Newly described form of X-linked arthrogryposis maps to the long arm of the human X chromosome. 24
9714012 1998
20
Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals. 24
9683599 1998
21
SMA type 2 unrelated to chromosome 5q13. 24
9450884 1998
22
Dominant congenital benign spinal muscular atrophy. 24
8114789 1994
23
A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features. 24
1520078 1992
24
Clinical variability of autosomal dominant spinal muscular atrophy. 24
1578236 1992
25
A family with severe X-linked arthrogryposis. 24
1915520 1991
26
X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype. 61
31932168 2019
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 68) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.1486G>A (p.Glu496Lys)SNV Conflicting interpretations of pathogenicity 368337 rs140950898 X:47063006-47063006 X:47203607-47203607
5 UBA1 NM_003334.4(UBA1):c.1543C>A (p.Arg515=)SNV Uncertain significance 368338 rs150198324 X:47063063-47063063 X:47203664-47203664
6 UBA1 NM_003334.4(UBA1):c.2838+7deldeletion Uncertain significance 368345 rs1057515899 X:47072583-47072583 X:47213184-47213184
7 UBA1 NM_003334.4(UBA1):c.-178G>ASNV Uncertain significance 368327 rs1057515898 X:47053246-47053246 X:47193847-47193847
8 UBA1 NM_003334.4(UBA1):c.2838+8C>TSNV Uncertain significance 368346 rs782075261 X:47072588-47072588 X:47213189-47213189
9 UBA1 NM_003334.4(UBA1):c.2839-7C>TSNV Uncertain significance 368347 rs199797125 X:47073719-47073719 X:47214320-47214320
10 UBA1 NM_003334.4(UBA1):c.*123C>TSNV Uncertain significance 368349 rs1057515900 X:47074451-47074451 X:47215052-47215052
11 UBA1 NM_003334.4(UBA1):c.1159G>A (p.Ala387Thr)SNV Uncertain significance 465029 rs1556788813 X:47062139-47062139 X:47202740-47202740
12 UBA1 NM_003334.4(UBA1):c.1853A>G (p.Tyr618Cys)SNV Uncertain significance 465032 rs1556791125 X:47065758-47065758 X:47206359-47206359
13 UBA1 NM_003334.4(UBA1):c.878G>A (p.Ser293Asn)SNV Uncertain significance 501333 rs1365209491 X:47061621-47061621 X:47202222-47202222
14 UBA1 NM_003334.4(UBA1):c.734G>A (p.Gly245Glu)SNV Uncertain significance 533609 rs1409013948 X:47060932-47060932 X:47201533-47201533
15 UBA1 NM_003334.4(UBA1):c.2622C>A (p.Asp874Glu)SNV Uncertain significance 533612 rs1556793890 X:47072238-47072238 X:47212839-47212839
16 UBA1 NM_003334.4(UBA1):c.2830C>T (p.Arg944Cys)SNV Uncertain significance 548565 rs1556794074 X:47072572-47072572 X:47213173-47213173
17 UBA1 NM_003334.4(UBA1):c.1924G>C (p.Glu642Gln)SNV Uncertain significance 577636 rs1318594436 X:47065829-47065829 X:47206430-47206430
18 UBA1 NM_003334.4(UBA1):c.2474G>A (p.Arg825His)SNV Uncertain significance 580504 rs781852793 X:47071832-47071832 X:47212433-47212433
19 UBA1 NM_003334.4(UBA1):c.1049G>A (p.Arg350His)SNV Uncertain significance 578608 rs5906354 X:47061896-47061896 X:47202497-47202497
20 UBA1 NM_003334.4(UBA1):c.2626C>G (p.Pro876Ala)SNV Uncertain significance 582593 rs782749176 X:47072242-47072242 X:47212843-47212843
21 UBA1 NM_003334.4(UBA1):c.2452A>G (p.Asn818Asp)SNV Uncertain significance 573068 rs1569216553 X:47070612-47070612 X:47211213-47211213
22 UBA1 NM_003334.4(UBA1):c.2540T>C (p.Ile847Thr)SNV Uncertain significance 574260 rs1556793806 X:47071898-47071898 X:47212499-47212499
23 UBA1 NM_003334.4(UBA1):c.106G>A (p.Val36Met)SNV Uncertain significance 640059 X:47058307-47058307 X:47198908-47198908
24 UBA1 NM_003334.4(UBA1):c.559G>T (p.Val187Leu)SNV Uncertain significance 659059 X:47060371-47060371 X:47200972-47200972
25 UBA1 NM_003334.4(UBA1):c.1013A>G (p.Gln338Arg)SNV Uncertain significance 644043 X:47061860-47061860 X:47202461-47202461
26 UBA1 NM_003334.4(UBA1):c.1033C>T (p.Arg345Trp)SNV Uncertain significance 643893 X:47061880-47061880 X:47202481-47202481
27 UBA1 NM_003334.4(UBA1):c.1052A>G (p.Asn351Ser)SNV Uncertain significance 655276 X:47061899-47061899 X:47202500-47202500
28 UBA1 NM_003334.4(UBA1):c.1117G>A (p.Val373Met)SNV Uncertain significance 651204 X:47062097-47062097 X:47202698-47202698
29 UBA1 NM_003334.4(UBA1):c.1151G>A (p.Arg384Gln)SNV Uncertain significance 647851 X:47062131-47062131 X:47202732-47202732
30 UBA1 NM_003334.4(UBA1):c.1318A>C (p.Thr440Pro)SNV Uncertain significance 660014 X:47062426-47062426 X:47203027-47203027
31 UBA1 NM_003334.4(UBA1):c.1469T>C (p.Ile490Thr)SNV Uncertain significance 655479 X:47062989-47062989 X:47203590-47203590
32 UBA1 NM_003334.4(UBA1):c.1730A>G (p.Asn577Ser)SNV Uncertain significance 661573 X:47065501-47065501 X:47206102-47206102
33 UBA1 NM_003334.4(UBA1):c.1775G>A (p.Arg592Gln)SNV Uncertain significance 659218 X:47065680-47065680 X:47206281-47206281
34 UBA1 NM_003334.4(UBA1):c.2270A>G (p.Asn757Ser)SNV Uncertain significance 648255 X:47070311-47070311 X:47210912-47210912
35 UBA1 NM_003334.4(UBA1):c.2584A>G (p.Ile862Val)SNV Uncertain significance 656993 X:47072200-47072200 X:47212801-47212801
36 UBA1 NM_003334.4(UBA1):c.2750G>T (p.Arg917Leu)SNV Uncertain significance 650144 X:47072492-47072492 X:47213093-47213093
37 UBA1 NM_003334.4(UBA1):c.2987T>A (p.Met996Lys)SNV Uncertain significance 658741 X:47073982-47073982 X:47214583-47214583
38 UBA1 NM_003334.4(UBA1):c.3127G>A (p.Glu1043Lys)SNV Uncertain significance 639393 X:47074278-47074278 X:47214879-47214879
39 UBA1 NM_003334.4(UBA1):c.910-9C>GSNV Uncertain significance 649688 X:47061748-47061748 X:47202349-47202349
40 UBA1 NM_003334.4(UBA1):c.1048C>T (p.Arg350Cys)SNV Uncertain significance 533610 rs1556788657 X:47061895-47061895 X:47202496-47202496
41 UBA1 NM_003334.4(UBA1):c.574C>T (p.Arg192Trp)SNV Uncertain significance 533611 rs185589110 X:47060386-47060386 X:47200987-47200987
42 UBA1 NM_003334.4(UBA1):c.1404G>T (p.Lys468Asn)SNV Uncertain significance 533613 rs782565391 X:47062598-47062598 X:47203199-47203199
43 UBA1 NM_003334.4(UBA1):c.2464+6_2464+9deldeletion Uncertain significance 533614 rs1175155400 X:47070629-47070632 X:47211230-47211233
44 UBA1 NM_003334.4(UBA1):c.2094G>A (p.Gln698=)SNV Likely benign 533620 rs1556792871 X:47069417-47069417 X:47210018-47210018
45 UBA1 NM_003334.4(UBA1):c.2793G>A (p.Leu931=)SNV Likely benign 533617 rs782340410 X:47072535-47072535 X:47213136-47213136
46 UBA1 NM_003334.4(UBA1):c.1638A>G (p.Thr546=)SNV Likely benign 533616 rs201169336 X:47065409-47065409 X:47206010-47206010
47 UBA1 NM_153280.2(UBA1):c.*203C>TSNV Likely benign 369637 rs182093778 X:47074531-47074531 X:47215132-47215132
48 UBA1 NM_003334.4(UBA1):c.910-8C>TSNV Likely benign 533619 rs374197052 X:47061749-47061749 X:47202350-47202350
49 UBA1 NM_003334.4(UBA1):c.1420-8C>TSNV Likely benign 465031 rs782038176 X:47062932-47062932 X:47203533-47203533
50 UBA1 NM_003334.4(UBA1):c.1401C>G (p.Gly467=)SNV Likely benign 465030 rs782569910 X:47062595-47062595 X:47203196-47203196

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

Sources for Spinal Muscular Atrophy, X-Linked 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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