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congenital muscular dystrophy with cataracts and intellectual disability - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital muscular dystrophy with cataracts and intellectual disability

MONDO:0024607

Also known as:MDCCAIDmuscular dystrophy, congenital, with cataracts and intellectual disability

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Overview

A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13.

GeneticsAutosomal recessive · INPP5K (chr 17)

Clinical Trials1 registered · 1 recruiting

ResearchLimited published research (6 articles)

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) and Cataract; and very common findings: Low muscle tone (hypotonia) and Motor delay. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Seizure, Lower limb spasticity, Spinal rigidity

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.

INPP5K encodes inositol polyphosphate-5-phosphatase K (448 aa). Inositol 5-phosphatase which acts on inositol 1,4,5-trisphosphate, inositol 1,3,4,5-tetrakisphosphate, phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. Highest expression in Thyroid (62.3 TPM) and Testis (54.3 TPM).

Congenital muscular dystrophy with cataracts and intellectual disability is associated with mutations in the INPP5K gene on chromosome 17.

INPP5K is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

Diagnosis

Genetic testing for INPP5K is available. Testing is considered confirmatory for diagnosis.

Prognosis

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

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

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

6 publications have been identified in PubMed for congenital muscular dystrophy with cataracts and intellectual disability. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (17%).

Recent Publications

Kilicarslan OA (2026). [PMID: 41498167](https://pubmed.ncbi.nlm.nih.gov/41498167/). *Clin Genet*. [Case Report / Case Series]
Radio FC (2026). [PMID: 41904678](https://pubmed.ncbi.nlm.nih.gov/41904678/). *Genet Med*. [Basic Science / Preclinical]
Fogel BL (2025). [PMID: 40464291](https://pubmed.ncbi.nlm.nih.gov/40464291/). *Ann Neurol*. [Review / Meta-Analysis]
Rawlins LE (2025). [PMID: 39315527](https://pubmed.ncbi.nlm.nih.gov/39315527/). *Genet Med*. [Epidemiology / Natural History]
Deng S (2024). [PMID: 39133882](https://pubmed.ncbi.nlm.nih.gov/39133882/). *Neurology*. [Case Report / Case Series]

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 11:46 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617404

Orphanet

European rare disease database

Orphanet:662184

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→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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congenital muscular dystrophy with cataracts and intellectual disability

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

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Questions for Your Care Team

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