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grange syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

grange syndrome

MONDO:0011243

Also known as:grange occlusive arterial syndromeprogressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndromeGRNG

Overview

Grange syndrome is characterized by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.

GeneticsAutosomal recessive · YY1AP1 (chr 1)

ResearchLimited published research (4 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 sometimes findings: Coronary artery stenosis and Bicuspid aortic valve. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	3	Coronary artery stenosis, Bicuspid aortic valve, Renovascular hypertension

Genetic Landscape

YY1AP1 function has not been fully characterized.

Grange syndrome is associated with mutations in the YY1AP1 gene on chromosome 1.

Diagnosis

Genetic testing for YY1AP1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

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 grange syndrome.

4 publications have been identified in PubMed for grange syndrome. Research spans Case Report / Case Series (50%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).

Recent Publications

Unsel-Bolat G (2026). [PMID: 41882341](https://pubmed.ncbi.nlm.nih.gov/41882341/). *Journal of human genetics*. [Case Report / Case Series]
Yilmaz SO (2026). [PMID: 41937270](https://pubmed.ncbi.nlm.nih.gov/41937270/). *American journal of medical genetics. Part A*. [Case Report / Case Series]
Akalın A (2026). [PMID: 41998823](https://pubmed.ncbi.nlm.nih.gov/41998823/). *Am J Med Genet A*. [Basic Science / Preclinical]
Hausman-Kedem M (2024). [PMID: 38898630](https://pubmed.ncbi.nlm.nih.gov/38898630/). *Vascular medicine (London, England)*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 1:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:602531

Orphanet

European rare disease database

Orphanet:79094

GARD

Genetic and Rare Diseases Info Center

GARD:16697

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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grange syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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