Details of Disease | DrugMAP

General Information of Disease (ID: DISZ6MFS)

Disease Name	Autism spectrum disorder - epilepsy - arthrogryposis syndrome
Synonyms	AMRS; arthrogryposis, mental retardation, and seizures; arthrogryposis, intellectual disability, and seizures; arthrogryposis, impaired intellectual development, and seizures; SLC35A3-CDG
Definition	SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age. The disease is caused by mutations in the gene SLC35A3 (1p21).
Disease Hierarchy	DIS3QIEL: Distal arthrogryposis DISMFQKM: Developmental anomaly of metabolic origin DIST8BQR: Disorder of protein N-glycosylation DISZ6MFS: Autism spectrum disorder - epilepsy - arthrogryposis syndrome
Disease Identifiers	MONDO ID MONDO_0014248 UMLS CUI C3809910 OMIM ID 615553 MedGen ID 816240 Orphanet ID 370943

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC35A3	DTB930Q	Limited	CausalMutation	[1]
SLC35A3	DTB930Q	Strong	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC35A3	OTG92DK5	Strong	Autosomal recessive	[2]
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References

1	Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis. J Med Genet. 2013 Nov;50(11):733-9. doi: 10.1136/jmedgenet-2013-101753. Epub 2013 Sep 12.
2	A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation. Genome Res. 2006 Jan;16(1):97-105. doi: 10.1101/gr.3690506. Epub 2005 Dec 12.