CRPPA encodes CDP-L-ribitol pyrophosphorylase A (451 aa). Cytidylyltransferase required for protein O-linked mannosylation. Catalyzes the formation of CDP-ribitol nucleotide sugar from D-ribitol 5-phosphate. Highest expression in Brain Frontal Cortex BA9 (1.6 TPM) and Nerve Tibial (1.5 TPM).

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 is associated with mutations in the CRPPA gene on chromosome 7.

CRPPA is classified as a druggable target (Enzyme category) with score 0.0.

Genetic testing for CRPPA is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 has been reported in the published literature.

Phenotype severity distribution: 3 always present features, 1 very common feature, 6 common features.

No clinical trials have been registered for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7.

21 publications have been identified in PubMed for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7. Research spans Case Report / Case Series (43%), Review / Meta-Analysis (14%), and Diagnostic / Biomarker (10%).

Recent Publications

• Zhang J (2026). [PMID: 42158226](https://pubmed.ncbi.nlm.nih.gov/42158226/). *Clin Case Rep*. [Case Report / Case Series]

• Jayanna S (2026). [PMID: 41930014](https://pubmed.ncbi.nlm.nih.gov/41930014/). *Oman J Ophthalmol*. [Case Report / Case Series]

• Schroeder RL (2026). [PMID: 41064951](https://pubmed.ncbi.nlm.nih.gov/41064951/). *Vet Pathol*. [Basic Science / Preclinical]

• Rahmuni Y (2026). [PMID: 41742649](https://pubmed.ncbi.nlm.nih.gov/41742649/). *Mol Genet Genomic Med*. [Diagnostic / Biomarker]

• Murakami T (2025). [PMID: 40814256](https://pubmed.ncbi.nlm.nih.gov/40814256/). *Neuropsychopharmacol Rep*. [Clinical Trial Publication]

• Sifre-Ruiz A (2025). [PMID: 40252628](https://pubmed.ncbi.nlm.nih.gov/40252628/). *Rev Esp Patol*. [Case Report / Case Series]

• Sharaf-Eldin W (2025). [PMID: 39998573](https://pubmed.ncbi.nlm.nih.gov/39998573/). *J Mol Neurosci*. [Review / Meta-Analysis]

• Ishigaki K (2025). [PMID: 40011677](https://pubmed.ncbi.nlm.nih.gov/40011677/). *Sci Rep*. [Diagnostic / Biomarker]

• Sato T (2025). [PMID: 39566997](https://pubmed.ncbi.nlm.nih.gov/39566997/). *Tohoku J Exp Med*. [Epidemiology / Natural History]

• Lee SJ (2025). [PMID: 41188778](https://pubmed.ncbi.nlm.nih.gov/41188778/). *BMC Ophthalmol*. [Case Report / Case Series]