ORPHA:247262
Hyperphosphatasia-intellectual disability syndrome
Also known as: Mabry syndrome
Publications
202
63.4th percentile
Trials
0
Interventional, condition-specific
Researchers
1,545
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, disorder of glycosylation-related bone disorder characterized by , severe , , , increased serum alkaline phosphatase, short distal phalanges with hypoplastic nails, and facial features. In some cases, cleft palate, megacolon, anorectal malformations, and heart defects have been reported.
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:0016596
- UMLS:C1855923
Additional Mondo synonyms (3)
HPMR · hyperphosphatasia with intellectual disability syndrome · hyperphosphatasia with mental retardation syndrome
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
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
202 matched papers (148 in last 10 years) Source
- Phenotype characterisedPresent
263 HPO annotations (e.g. Hypertelorism; Elevated circulating alkaline phosphatase concentration; Bilateral tonic-clonic seizure) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
263
Associated phenotypes · MONDO:0016596
- Hypertelorism
- Elevated circulating alkaline phosphatase concentration
- Bilateral tonic-clonic seizure
- Downturned corners of mouth
- Bifid uvula
Showing 5 of 263 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
202
202 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=3967) is 59.
202 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
148 in the last 10 years · medium confidence · 63.4th percentile (publications denominator)
Phrase hits: 202 · MeSH hits: 0
Who's working on it?
1,545
Distinct author names in 200 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.
- 01Kinoshita T22 papers · 2025
WPI Immunology Frontier Research Center and Research Institute for Microbial Diseases, Osaka University, Suita, Osaka 565-0871, Japan tkinoshi@biken.osaka-u.ac.jp.
Papers in Europe PMC - 02Murakami Y18 papers · 2025
Department of Immunoregulation, Research Institute for Microbial Diseases, Osaka University, Osaka, Japan.
Papers in Europe PMC - 03Krawitz PM15 papers · 2022
Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany. pkrawitz@uni-bonn.de.
Papers in Europe PMC - 04Robinson PN13 papers · 2020
The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.
Papers in Europe PMC - 05Horn D10 papers · 2022
Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany.
Papers in Europe PMC - 06Mundlos S10 papers · 2022
Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Medical Genetics and Human Genetics, Berlin, Germany.
Papers in Europe PMC - 07Thompson MD10 papers · 2024
Department of Pediatrics, University of California, San Diego 92093, CA, USA. mithompson@ucsd.edu.
Papers in Europe PMC - 08Knaus A9 papers · 2024
Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.
Papers in Europe PMC - 09Bayat A5 papers · 2024
Rigshospitalet, Department of Neurology, Copenhagen, Denmark.
Papers in Europe PMC - 10Campeau PM5 papers · 2025
Centre de Recherche du CHU Sainte-Justine et Université de Montréal, Montréal, QC, Canada.
Papers 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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
medium confidence · 38.6th 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.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Hyperphosphatasia-intellectual disability syndrome — check Associations / patient organisations on that page.
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.
"Hyperphosphatasia-intellectual disability syndrome" OR "Mabry syndrome" OR "hyperphosphatasia with intellectual disability syndrome" OR "hyperphosphatasia with mental retardation syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hyperphosphatasia-intellectual disability syndrome" OR "Mabry syndrome" OR "hyperphosphatasia with intellectual disability syndrome" OR "hyperphosphatasia with mental retardation syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: HPMR
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T10:31:21.208Z