GlyCosmos Portal

autosomal recessive limb-girdle muscular dystrophy type 2Y

Synonym

LGMD2Y
autosomal recessive muscular dystrophy due to LAP1B deficiency
autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency
muscular dystrophy with progressive weakness, distal contractures and rigid spine
muscular dystrophy, limb-girdle, type 2Y

Definition

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24.

Super Class

autosomal recessive limb-girdle muscular dystrophy

Disease Ontology

DOID:0110289

Mondo Disease Ontology

ORDO

OMIM

Related Genes

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Gene ID	Gene Symbol	Description	Source
43	ACHE	acetylcholinesterase (Yt blood group)	DisGeNET
142	PARP1	poly(ADP-ribose) polymerase 1	DisGeNET
176	ACAN	aggrecan	DisGeNET
178	AGL	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	DisGeNET
239	ALOX12	arachidonate 12-lipoxygenase, 12S type	DisGeNET
250	ALPP	alkaline phosphatase, placental	DisGeNET DisGeNET
353	APRT	adenine phosphoribosyltransferase	DisGeNET DisGeNET
501	ALDH7A1	aldehyde dehydrogenase 7 family member A1	DisGeNET
960	CD44	CD44 molecule (IN blood group)	DisGeNET
1119	CHKA	choline kinase alpha	DisGeNET DisGeNET

Related Glycoprotein

Displaying entries **21 - 30** of 56 in total

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UniProt ID	Protein Name	Source
P12821	Angiotensin-converting enzyme	DisGeNET DisGeNET
P13727	Bone marrow proteoglycan	DisGeNET
P14410	Sucrase-isomaltase, intestinal	DisGeNET
P16070	CD44 antigen	DisGeNET
P16112	Aggrecan core protein	DisGeNET
P16278	Beta-galactosidase	DisGeNET
P16444	Dipeptidase 1	DisGeNET
P17931	Galectin-3	DisGeNET
P18054	Polyunsaturated fatty acid lipoxygenase ALOX12	DisGeNET
P22303	Acetylcholinesterase	DisGeNET