Oculopharyngodistal Myopathy 2 (GIPC1)
| Dred_ID | RD00036 |
| OMIM ID | 618940 |
| Disease name | Oculopharyngodistal Myopathy 2 |
| Alternative names | OPDM2 |
| Category | Genetic diseases, Rare diseases, Fetal diseases |
| Phenotype | OMIM: Oculopharyngodistal myopathy-2 (OPDM2) is an autosomal dominant muscle disorder characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life. The disorder is slowly progressive, and patients develop facial weakness, bulbar weakness, and difficulty walking or climbing stairs. Some patients may have upper limb involvement and subclinical respiratory insufficiency. Laboratory studies show increased serum creatine kinase; skeletal muscle biopsy shows myopathic changes with abnormal cytoplasmic and intranuclear inclusions (summary by Deng et al., 2020). For a discussion of genetic heterogeneity of OPDM, see OPDM1 (164310). MalaCards based summary : Oculopharyngodistal Myopathy 2, is also known as opdm2. An important gene associated with Oculopharyngodistal Myopathy 2 is GIPC1 (GIPC PDZ Domain Containing Family Member 1). Affiliated tissues include skeletal muscle, and related phenotypes are ptosis and emg: myopathic abnormalities |
| Miscellaneouse | slowly progressive onset in second or third decade |
| Prevalence | N/A [source: MalaCards] |
| Inheritance | Autosomal dominant |
| Anticipation | Yes |
| Evidence | Strong |
| Gene symbol | GIPC1 |
| Alias symbols | NIP; GIPC; IIP-1; OPDM2; TIP-2; SEMCAP; C19orf3; Hs.6454; GLUT1CBP; RGS19IP1; SYNECTIN; SYNECTIIN |
| Gene name | GIPC PDZ domain containing family member 1 |
| Gene map locus | 19p13.12; chr19:14,477,760-14,496,149(-) |
| Ensembl Gene ID | ENSG00000123159 |
| Gene expression and Gene Ontology | BioGPS |
| Protein expression | Human Protein Atlas |
| Gene sequence | Sequence |
| Variation | ClinVar, dbSNP | Gene conservation | Gene Conservation from UCSC Genome Browser |
| Gene Description | GIPC1 is a scaffolding protein that regulates cell surface receptor expression and trafficking |
| Repeat unit | CGG |
| Normal repeat copies | 12-32 |
| Pathogenic repeat copies | ≥97 |
| Gene | GIPC1 |
| Repeat location | 5' UTR |
| Chromosome locus | chr19:14496042-14496073 (-) |
| Repeat conservation | Repeat Conservation from UCSC Genome Browser |
| Toxic cause | RNA |
| Possible toxicity | Deng et al. (2020) hypothesized that elevated GIPC1 mRNA levels with the transcribed expanded GGC repeats may result in RNA toxicity, although they suggested that it may not matter which gene is involved. |
| Pathway annotation | Reactome, KEGG |
| PMID | 32413282 |
| Authors | Jianwen Deng, Jiaxi Yu, Pidong Li, Xinghua Luan, Li Cao, Juan Zhao, Meng Yu, et al |
| Title | Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy |
| Journal | Am J Hum Genet. |
| Year | 2020 |