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 intellectual disability), type B14 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.

Biomarker and diagnostic research for muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 has been reported in the published literature.

Phenotype severity distribution: 3 always present features, 7 common features.

No clinical trials have been registered for muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14.

131 publications have been identified in PubMed for muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14. Research spans Basic Science / Preclinical (27%), Case Report / Case Series (26%), and Epidemiology / Natural History (17%).

Recent Publications

• Iturrate A (2026). [PMID: 41023410](https://pubmed.ncbi.nlm.nih.gov/41023410/). *Eur J Hum Genet*. [Basic Science / Preclinical]

• Marozzi J (2026). [PMID: 41285026](https://pubmed.ncbi.nlm.nih.gov/41285026/). *Hum Reprod*. [Epidemiology / Natural History]

• Muelas N (2026). [PMID: 41054283](https://pubmed.ncbi.nlm.nih.gov/41054283/). *Annals of clinical and translational neurology*. [Review / Meta-Analysis]

• Hidalgo Mayoral I (2026). [PMID: 41022664](https://pubmed.ncbi.nlm.nih.gov/41022664/). *Clin Genet*. [Basic Science / Preclinical]

• Imae R (2026). [PMID: 41917390](https://pubmed.ncbi.nlm.nih.gov/41917390/). *Adv Exp Med Biol*. [Review / Meta-Analysis]

• Bektaş Öntaş H (2026). [PMID: 41240414](https://pubmed.ncbi.nlm.nih.gov/41240414/). *European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society*. [Epidemiology / Natural History]

• López-Márquez A (2026). [PMID: 41287928](https://pubmed.ncbi.nlm.nih.gov/41287928/). *Disease models & mechanisms*. [Basic Science / Preclinical]

• El-Hayek S (2026). [PMID: 41904993](https://pubmed.ncbi.nlm.nih.gov/41904993/). *J Neuromuscul Dis*. [Basic Science / Preclinical]

• Rossini E (2026). [PMID: 41251564](https://pubmed.ncbi.nlm.nih.gov/41251564/). *Muscle & nerve*. [Epidemiology / Natural History]

• Erbst MJ (2026). [PMID: 40334039](https://pubmed.ncbi.nlm.nih.gov/40334039/). *Unknown Journal*. [Case Report / Case Series]