autosomal recessive limb-girdle muscular dystrophy type 2K

Summary
Synonym
  • LGMD2K
  • MDDGC1
  • limb-girdle muscular dystrophy-intellectual disability syndrome
  • muscular dystrophy limb-girdle type 2K
  • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1
Definition
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1).
Super Class
autosomal recessive limb-girdle muscular dystrophy
External Links
Related Genes
Displaying entries 1 - 10 of 65 in total
Gene ID Gene Symbol Description Source
43 ACHE acetylcholinesterase (Yt blood group)
142 PARP1 poly(ADP-ribose) polymerase 1
176 ACAN aggrecan
178 AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
239 ALOX12 arachidonate 12-lipoxygenase, 12S type
250 ALPP alkaline phosphatase, placental
353 APRT adenine phosphoribosyltransferase
501 ALDH7A1 aldehyde dehydrogenase 7 family member A1
960 CD44 CD44 molecule (IN blood group)
1119 CHKA choline kinase alpha
Displaying 1 entry
Gene ID Gene Symbol Description Source
99011 Pomt1 protein-O-mannosyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
84430 Pomt1 protein-O-mannosyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
39297 rt rotated abdomen
Displaying 1 entry
Gene ID Gene Symbol Description Source
569769 pomt1 protein-O-mannosyltransferase 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
448433 pomt1 protein-O-mannosyltransferase 1 Xenopus tropicalis (tropical clawed frog)
108699937 pomt1.S protein-O-mannosyltransferase 1 S homeolog Xenopus laevis (African clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
853608 PMT4 dolichyl-phosphate-mannose-protein mannosyltransferase
The Human Phenotype Ontology
Displaying entries 11 - 20 of 37 in total
HPO ID HPO Term
HP:0002098 Respiratory distress
HP:0010794 Impaired visuospatial constructive cognition
HP:0002938 Lumbar hyperlordosis
HP:0001638 Cardiomyopathy
HP:0003557 Increased variability in muscle fiber diameter
HP:0000252 Microcephaly
HP:0003306 Spinal rigidity
HP:0003700 Generalized amyotrophy
HP:0002094 Dyspnea
HP:0008981 Calf muscle hypertrophy
Displaying 1 entry
Gene ID Gene Symbol Description
10585 POMT1 protein O-mannosyltransferase 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024