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intellectual developmental disorder with gastrointestinal difficulties and high pain threshold - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intellectual developmental disorder with gastrointestinal difficulties and high pain threshold

MONDO:0044318

Also known as:Jansen de Vries syndromeIDDGIP

Overview

IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017}).

GeneticsAutosomal dominant · PPM1D (chr 17)

ResearchLimited published research (5 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: Hyperacusis; and very common findings: Short foot, Thin upper lip vermilion, Intellectual disability, and Posteriorly rotated ears and others. 34 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Anxiety, Intellectual disability, Broad-based gait

Genetic Landscape

PPM1D function has not been fully characterized.

Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold is associated with mutations in the PPM1D gene on chromosome 17.

Diagnosis

Genetic testing for PPM1D is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 5 very common features, 15 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.

No clinical trials have been registered for intellectual developmental disorder with gastrointestinal difficulties and high pain threshold.

5 publications have been identified in PubMed for intellectual developmental disorder with gastrointestinal difficulties and high pain threshold. Research spans Basic Science / Preclinical (40%), Review / Meta-Analysis (20%), and Case Report / Case Series (20%).

Recent Publications

Vettiatil D (2025). [PMID: 40894167](https://pubmed.ncbi.nlm.nih.gov/40894167/). *medRxiv*. [Basic Science / Preclinical]
Merida De la Torre FJ (2025). [PMID: 40630121](https://pubmed.ncbi.nlm.nih.gov/40630121/). *Front Genet*. [Case Report / Case Series]
Li BUK (2025). [PMID: 39789960](https://pubmed.ncbi.nlm.nih.gov/39789960/). *Neurogastroenterol Motil*. [Review / Meta-Analysis]
Pizzol A (2025). [PMID: 39494522](https://pubmed.ncbi.nlm.nih.gov/39494522/). *Am J Med Genet A*. [Epidemiology / Natural History]
Cunningham JL (2025). [PMID: 39396515](https://pubmed.ncbi.nlm.nih.gov/39396515/). *Dev Neurosci*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 6:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617450

Orphanet

European rare disease database

Orphanet:653767

Questions for Your Care Team

→Should I pursue genetic testing for PPM1D, and what would the results mean for my family?
→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 with gastrointestinal difficulties and high pain threshold

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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