About: X-linked spinal muscular atrophy type 2

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X-linked spinal muscular atrophy type 2 (SMAX2, XLSMA), also known as arthrogryposis multiplex congenita X-linked type 1 (AMCX1), is a rare neurological disorder involving death of motor neurons in the anterior horn of spinal cord resulting in generalised muscle wasting (atrophy). The disease is caused by a mutation in UBA1 gene and is passed in an X-linked recessive manner by carrier mothers to affected sons.

Attributes	Values
rdf:type	Thing Disease yago:WikicatX-linkedRecessiveDisorders yago:Abstraction100002137 yago:Attribute100024264 yago:Condition113920835 yago:Disease114070360 yago:Disorder114052403 yago:IllHealth114052046 yago:Illness114061805 yago:PathologicalState114051917 yago:PhysicalCondition114034177 disease yago:State100024720 umbel-rc:AilmentCondition
rdfs:label	X-linked spinal muscular atrophy type 2 (en)
rdfs:comment	X-linked spinal muscular atrophy type 2 (SMAX2, XLSMA), also known as arthrogryposis multiplex congenita X-linked type 1 (AMCX1), is a rare neurological disorder involving death of motor neurons in the anterior horn of spinal cord resulting in generalised muscle wasting (atrophy). The disease is caused by a mutation in UBA1 gene and is passed in an X-linked recessive manner by carrier mothers to affected sons. (en)
foaf:name	X-linked spinal muscular atrophy type 2 (en)
name	X-linked spinal muscular atrophy type 2 (en)
foaf:depiction
dcterms:subject	Motor neuron diseases Neuromuscular disorders Systemic atrophies primarily affecting the central nervous system X-linked recessive disorders
Wikipage page ID	23056116 (xsd:integer)
Wikipage revision ID	1055075402 (xsd:integer)
Link from a Wikipage to another Wikipage	Mutation Anterior grey column Hypospadias Cryptorchidism Motor neuron diseases Neuromuscular disorders Systemic atrophies primarily affecting the central nervous system Mechanical ventilation Genetic disorder Genetic testing Gastrostomy Gene Motor neurons Anterior horn of spinal cord SMN1 Feeding tube Respiratory failure Atrophy Hypotonia Arthrogryposis X-linked recessive disorders Spinal muscular atrophy Palliative care Spinal muscular atrophies UBA1 Areflexia Genetic defect X-linked recessive
Link from a Wikipage to an external page	https://www.ncbi.nlm.nih.gov/books/NBK2594 https://www.semanticscholar.org/paper/8c2998c4096b5b1dc2e759e1d7ed0179a1d31ecb
sameAs	X-linked spinal muscular atrophy type 2 X-linked spinal muscular atrophy type 2 X-linked spinal muscular atrophy type 2 X-linked spinal muscular atrophy type 2 X-linked spinal muscular atrophy type 2
dbp:wikiPageUsesTemplate	dbt:About dbt:Citation_needed dbt:Cite_journal dbt:Cn dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist dbt:X-linked_disorders dbt:CNS_diseases_of_the_nervous_system dbt:Disorders_of_translation_and_posttranslational_modification
thumbnail	wiki-commons:Special:FilePath/X-linked_recessive.svg?width=300
ICD	G12.1 (en)
MeshID	535380.0 (nicaraguanCórdoba)
OMIM	301830 (xsd:integer)
Orphanet	1145 (xsd:integer)
caption	This condition is inherited in an X-linked recessive manner (en)
field	neurology (en)
synonyms	Spinal muscular atrophy with arthrogryposis (en)
has abstract	X-linked spinal muscular atrophy type 2 (SMAX2, XLSMA), also known as arthrogryposis multiplex congenita X-linked type 1 (AMCX1), is a rare neurological disorder involving death of motor neurons in the anterior horn of spinal cord resulting in generalised muscle wasting (atrophy). The disease is caused by a mutation in UBA1 gene and is passed in an X-linked recessive manner by carrier mothers to affected sons. Affected babies have general muscle weakness, weak cry and floppy limbs; consequently, the condition is usually apparent at or even before birth. Symptoms resemble the more severe forms of the more common spinal muscular atrophy (SMA); however, SMAX2 is caused by a different genetic defect and only genetic testing can correctly identify the disease. The disorder is usually fatal in infancy or early childhood due to progressive respiratory failure, although survival into teenage years has been reported. As with many genetic disorders, there is no known cure to SMAX2. Appropriate palliative care may be able to increase quality of life and extend lifespan. (en)
gold:hypernym	Disorder
MeSH ID	C535380
prov:wasDerivedFrom	wikipedia-en:X-linked_spinal_muscular_atrophy_type_2?oldid=1055075402&ns=0
page length (characters) of wiki page	15125 (xsd:nonNegativeInteger)
ICD10	G12.1
OMIM id	301830 (xsd:integer)
ORPHA	1145
foaf:isPrimaryTopicOf	wikipedia-en:X-linked_spinal_muscular_atrophy_type_2
is Link from a Wikipage to another Wikipage of	Arthrogryposis Spinal muscular atrophies UBA1 SMAX2 X-linked spinal muscular atrophy 2 XL-SMA XLSMA
is Wikipage redirect of	SMAX2 X-linked spinal muscular atrophy 2 XL-SMA XLSMA
is foaf:primaryTopic of	wikipedia-en:X-linked_spinal_muscular_atrophy_type_2

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