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intellectual developmental disorder and retinitis pigmentosa; IDDRP (IDDRP) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder and retinitis pigmentosa; IDDRP

MONDO:0032594

Also known as:IDDRPINTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA

Overview

GeneticsAutosomal recessive · SCAPER (chr 15)

ResearchLimited published research (2 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: Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, and Optic disc pallor and others; and common findings: Abnormal flash visual evoked potentials and Attention deficit hyperactivity disorder. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	4	Macular degeneration, Optic disc pallor, Posterior subcapsular cataract

Genetic Landscape

SCAPER function has not been fully characterized.

Intellectual developmental disorder and retinitis pigmentosa; IDDRP is associated with mutations in the SCAPER gene on chromosome 15.

Diagnosis

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

Prognosis

Phenotype severity distribution: 6 always present features, 2 common features.

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.

No clinical trials have been registered for intellectual developmental disorder and retinitis pigmentosa; IDDRP.

2 publications have been identified in PubMed for intellectual developmental disorder and retinitis pigmentosa; IDDRP. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

Shamsi MB (2025). [PMID: 40143690](https://pubmed.ncbi.nlm.nih.gov/40143690/). *Curr Med Chem*. [Basic Science / Preclinical]
Manav Yiğit Z (2025). [PMID: 40159802](https://pubmed.ncbi.nlm.nih.gov/40159802/). *Ophthalmic Genet*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 5:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618195

GARD

Genetic and Rare Diseases Info Center

GARD:16306

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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intellectual developmental disorder and retinitis pigmentosa; IDDRP

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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