Details of Disease | DrugMAP

General Information of Disease (ID: DIS574FL)

Disease Name	Infantile-onset X-linked spinal muscular atrophy
Synonyms	AMC, distal, X-linked; arthrogryposis, X-linked, type 1; arthrogryposis multiplex congenita, distal, X-linked; spinal muscular atrophy, X-linked 2; spinal muscular atrophy, X-linked lethal infantile; spinal muscular atrophy, infantile X-linked; X-linked distal arthrogryposis multiplex congenita; spinal muscular atrophy, X-linked type 2; X-linked spinal muscular atrophy type 2; spinal muscular atrophy with arthrogryposis; spinal muscular atrophy, X-linked 2, infantile, X-linked recessive; SMAX2
Definition	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.
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISMCQP6: Arthrogryposis multiplex congenita DISTLKOB: Spinal muscular atrophy DIS6XNI0: Hereditary motor neuron disease DIS574FL: Infantile-onset X-linked spinal muscular atrophy
Disease Identifiers	MONDO ID MONDO_0010532 MESH ID C535380 UMLS CUI C1844934 OMIM ID 301830 MedGen ID 337123 Orphanet ID 1145 SNOMED CT ID 719836007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
UBA1	OTDDTGWK	Strong	X-linked	[1]
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This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
UBA1	TTXHWA7	Strong	X-linked	[1]
UBA1	TTXHWA7	Strong	Genetic Variation	[2]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2	X-linked spinal muscular atrophy (SMAX2) caused by de novo c.1731C>T substitution in the UBA1 gene.Neuromuscul Disord. 2015 Aug;25(8):661-6. doi: 10.1016/j.nmd.2015.05.001. Epub 2015 May 8.