Features include always present findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration) and Muscle weakness; and very common findings: Intellectual disability. 22 total HPO annotations.

GMPPB encodes GDP-mannose pyrophosphorylase B (360 aa). Catalytic subunit of the GMPPA-GMPPB mannose-1-phosphate guanylyltransferase complex. Highest expression in Pituitary (56.4 TPM) and Thyroid (41.5 TPM).

Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 is associated with mutations in the GMPPB gene on chromosome 3.

The GMPPB protein participates in GMPPB converts Mannose-1-phosphate to GDP-Mannose pathway.

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

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

Phenotype severity distribution: 2 always present features, 1 very common feature, 5 common features.

No clinical trials have been registered for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14.

118 publications have been identified in PubMed for muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14. Kisho has analyzed 72 by research type. Research spans Other (57%), Review / Meta-Analysis (28%), and Epidemiology / Natural History (10%).