Features include always present findings: Poor head control, Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Cloudy or opaque cornea (corneal opacity), and Hypoplasia of the brainstem and others. 33 total HPO annotations.

FKRP encodes fukutin related protein (495 aa). Catalyzes the transfer of a ribitol 5-phosphate from CDP-L-ribitol to the ribitol 5-phosphate previously attached by FKTN/fukutin to the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1). Highest expression in Pituitary (19.7 TPM) and Uterus (18.0 TPM).

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 is associated with mutations in the FKRP gene on chromosome 19.

The FKRP protein participates in POMGNT1 catalyzes FKRP:FKTN:RXYLT1 formation and FKTN transfers RboP to GalNAc-GlcNAc-ManP-DAG1 pathways.

FKRP is classified as a druggable target (Druggable Genome category) with score 0.0.

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

Phenotype severity distribution: 19 always present features.

No clinical trials have been registered for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5.

118 publications have been identified in PubMed for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5. Kisho has analyzed 54 by research type. Research spans Other (35%), Review / Meta-Analysis (35%), and Epidemiology / Natural History (20%).