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autosomal recessive limb-girdle muscular dystrophy type 2U - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive limb-girdle muscular dystrophy type 2U

MONDO:0014474

Also known as:ISPD autosomal recessive limb-girdle muscular dystrophyLGMD2UMDDGC7

Overview

Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene.

GeneticsAutosomal recessive · CRPPA (chr 7)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Lower limb muscle weakness, Enlarged calf muscles (calf muscle hypertrophy), and Reduced forced vital capacity; and very common findings: Hypoglycosylation of alpha-dystroglycan and Limb-girdle muscle weakness. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	11

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

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).

Autosomal recessive limb-girdle muscular dystrophy type 2U is associated with mutations in the CRPPA gene on chromosome 7.

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

Diagnosis

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

Prognosis

Phenotype severity distribution: 4 always present features, 2 very common features, 8 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 5 of 12 sources · Last updated Sep 17, 2026, 10:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616052

Orphanet

European rare disease database

Orphanet:352479

GARD

Genetic and Rare Diseases Info Center

GARD:17519

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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autosomal recessive limb-girdle muscular dystrophy type 2U

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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