ORPHA:443098
Hyperostosis cranialis interna
Publications
28
32th percentile
Trials
0
Interventional, condition-specific
Researchers
140
Distinct authors in sample
Gene link
SLC39A14
Limited
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare primary bone with increased bone density characterized by slowly endosteal hyperostosis and osteosclerosis exclusively of the skull base and the calvaria, resulting in entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII. First symptoms often appear during the second decade of life and include disturbances in smell, vision, facial sensation and expression, hearing, and balance, as well as headaches due to increased ocular and intracranial pressure. After the fourth decade, radiological progression is minimal, although decreased intracranial volume can lead to death in severe cases.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007765
- MeSH:C564168
- OMIM:144755
- UMLS:C1840404
Additional Mondo synonyms (3)
hyperostosis cranalis interna · hyperostosis cranialis interna · hyperostosis cranialis interna (disease)
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Limited — SLC39A14
- LiteraturePresent
28 matched papers (14 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Possibly — only limited evidence so far for SLC39A14.
GenCC classification: Limited.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
28
28 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
28 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
14 in the last 10 years · high confidence · 32th percentile (publications denominator)
Phrase hits: 28 · MeSH hits: 1
Who's working on it?
140
Distinct author names in 28 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Manni JJ11 papers · 2018
Department of Otorhinolaryngology, Academic Hospital, Nijmegen, The Netherlands.
Papers in Europe PMC - 02Stokroos RJ8 papers · 2018
Department of Otorhinolaryngology and Head & Neck Surgery, Maastricht University Medical Center, Maastricht, The Netherlands.
Papers in Europe PMC - 03Waterval JJ8 papers · 2018
Department of Otorhinolaryngology-Head & Neck Surgery, Maastricht University, Maastricht, The Netherlands. J.Waterval@gmail.com
Papers in Europe PMC - 04Huygen PL3 papers · 1992Papers in Europe PMC
- 05Van Hul W3 papers · 2023
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Papers in Europe PMC - 06Borra VM2 papers · 2018
Department of Medical Genetics, University of Antwerp, Prins Boudewijnlaan 43, Edegem, 2650, Antwerp, Belgium. vere.borra@ua.ac.be
Papers in Europe PMC - 07Cruysberg JR2 papers · 1990Papers in Europe PMC
- 08De Bondt RB2 papers · 2010Papers in Europe PMC
- 09Hendrickx G2 papers · 2023
Department of Human Genetics, KU Leuven, Leuven, Belgium.
Papers in Europe PMC - 10Scaf JJ2 papers · 1990Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Hyperostosis cranialis interna" OR "hyperostosis cranalis interna" OR "hyperostosis cranialis interna (disease)"
MeSH descriptor terms unioned into the query: Hyperostosis Cranialis Interna
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hyperostosis cranialis interna" OR "hyperostosis cranalis interna" OR "hyperostosis cranialis interna (disease)" OR "SLC39A14"
Recall-expansion terms: SLC39A14
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T16:24:51.127Z