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A premature aging syndrome, autosomal recessive, characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life.
Features include always present findings: Short stature, Flexion contracture, Sparse eyebrow, and Dry skin and others; and common findings: Cavum septum pellucidum, Progeroid facial appearance, Lipoatrophy, and Dental malocclusion and others. 47 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 8 | Joint stiffness, Osteolytic defects of the distal phalanges of the hand, Weak and brittle bones (osteoporosis) |
BANF1 encodes barrier to autointegration nuclear assembly factor 1 (89 aa). Non-specific DNA-binding protein that plays key roles in mitotic nuclear reassembly, chromatin organization, DNA damage response, gene expression and intrinsic immunity against foreign DNA. Highest expression in Artery Aorta (194.0 TPM) and Cells Cultured fibroblasts (187.9 TPM).
Nestor-Guillermo progeria syndrome has limited evidence linking it to mutations in the BANF1 gene on chromosome 11.
BANF1 is classified as a druggable target with score 0.0.
Genetic testing for BANF1 is available. Testing is considered research-grade for diagnosis.
Biomarker and diagnostic research for Nestor-Guillermo progeria syndrome has been reported in the published literature.
Phenotype severity distribution: 24 always present features, 21 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Nestor-Guillermo progeria syndrome.
99 publications have been identified in PubMed for Nestor-Guillermo progeria syndrome. Research spans Basic Science / Preclinical (54%), Review / Meta-Analysis (22%), and Epidemiology / Natural History (9%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 53 | 54% |
Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 6:57 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Nestor-Guillermo progeria syndrome
Heart and blood vessels | 7 | Mitral regurgitation, Complete right bundle branch block, Right atrial enlargement |
Skin | 4 | Dry skin, Spotty hyperpigmentation, Nail dystrophy |
Growth and development | 3 | Short stature, Failure to thrive, Growth delay |
Head and neck | 2 | Progeroid facial appearance, Mandibular osteolysis |
Lungs and breathing | 2 | Dyspnea, High blood pressure in lung arteries (pulmonary arterial hypertension) |
Muscles | 1 | Flexion contracture |
Arms and legs | 1 | Osteolytic defects of the distal phalanges of the hand |
Research summaries
22 |
22% |
Disease patterns and progression | 9 | 9% |
Patient case studies | 6 | 6% |
Clinical study results | 3 | 3% |
New treatment approaches | 3 | 3% |
Testing and diagnosis research | 2 | 2% |
Other research | 1 | 1% |
Hutaff-Lee C (2026). [PMID: 40952039](https://pubmed.ncbi.nlm.nih.gov/40952039/). *American journal of medical genetics. Part A*. [Review / Meta-Analysis]
Gau M (2026). [PMID: 41285479](https://pubmed.ncbi.nlm.nih.gov/41285479/). *Endocrine journal*. [Basic Science / Preclinical]
Gagliano A (2025). [PMID: 40869088](https://pubmed.ncbi.nlm.nih.gov/40869088/). *International journal of molecular sciences*. [Basic Science / Preclinical]
Verbinnen I (2025). [PMID: 39978342](https://pubmed.ncbi.nlm.nih.gov/39978342/). *American journal of human genetics*. [Basic Science / Preclinical]
Di Leva F (2025). [PMID: 39741407](https://pubmed.ncbi.nlm.nih.gov/39741407/). *Molecular therapy : the journal of the American Society of Gene Therapy*. [Case Report / Case Series]
Masson A (2025). [PMID: 40965981](https://pubmed.ncbi.nlm.nih.gov/40965981/). *The Journal of clinical investigation*. [Basic Science / Preclinical]
Lucas-Herald AK (2025). [PMID: 39932051](https://pubmed.ncbi.nlm.nih.gov/39932051/). *Endocrine reviews*. [Review / Meta-Analysis]
Demenego G (2025). [PMID: 40482638](https://pubmed.ncbi.nlm.nih.gov/40482638/). *Neuron*. [Epidemiology / Natural History]
Chang YM (2025). [PMID: 40722196](https://pubmed.ncbi.nlm.nih.gov/40722196/). *Systematic reviews*. [Review / Meta-Analysis]
Bhattacharyya A (2025). [PMID: 41224669](https://pubmed.ncbi.nlm.nih.gov/41224669/). *The Journal of neuroscience : the official journal of the Society for Neuroscience*. [Basic Science / Preclinical]