myotonic dystrophy type 2

Summary
Definition
A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one.
Super Class
myotonic disease
External Links
Disease Ontology
DOID:0050759
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
Related Genes
Displaying entries 1 - 10 of 39 in total
Gene ID Gene Symbol Description Source
43 ACHE acetylcholinesterase (Yt blood group)
250 ALPP alkaline phosphatase, placental
1116 CHI3L1 chitinase 3 like 1
1555 CYP2B6 cytochrome P450 family 2 subfamily B member 6
1595 CYP51A1 cytochrome P450 family 51 subfamily A member 1
1605 DAG1 dystroglycan 1
1636 ACE angiotensin I converting enzyme
2194 FASN fatty acid synthase
2645 GCK glucokinase
3339 HSPG2 heparan sulfate proteoglycan 2

About Release Notes Help Feedback

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024