ORPHA:63442
Angel-shaped phalango-epiphyseal dysplasia
Also known as: ASPED
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
68
43.8th percentile
Trials
0
Interventional, condition-specific
Researchers
292
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A form of acromelic characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.
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:0007114
- MeSH:C536361
- OMIM:105835
- UMLS:C1739384
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.”
1/6 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
68 matched papers (30 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
68
68 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.
68 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).
30 in the last 10 years · high confidence · 43.8th percentile (publications denominator)
Phrase hits: 68 · MeSH hits: 0
Who's working on it?
292
Distinct author names in 68 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.
- 01Deeb A14 papers · 2025
Paediatric Endocrine Division, Sheikh Shakhbout Medical City and College of Medicine and Health Sciences, Khalifa University, Abu Dhabi, United Arab Emirates.
Papers in Europe PMC - 02Habeb A7 papers · 2025
College of Medicine, King Saud bin Abdulaziz University for Health Science, Riyadh, Saudi Arabia.
Papers in Europe PMC - 03Elbarbary N6 papers · 2025
Diabetes Unit, Department of Pediatrics, Faculty of Medicine, 8792Ain Shams University, Cairo, Egypt.
Papers in Europe PMC - 04Alsaffar H3 papers · 2022
Paediatric Endocrine and Diabetics Unit, Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman.
Papers in Europe PMC - 05Beshyah SA3 papers · 2021
Diabetes and Endocrine Clinic, Mediclinic Airport Road, Abu Dhabi, United Arab Emirates.
Papers in Europe PMC - 06Hamza RT3 papers · 2022
Department of Pediatric Endocrinology, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
Papers in Europe PMC - 07Savarirayan R3 papers · 2023
Murdoch Children's Research Institute and University of Melbourne, Parkville, Victoria, Australia.
Papers in Europe PMC - 08Tabor CW3 papers · 1986Papers in Europe PMC
- 09Tabor H3 papers · 1986Papers in Europe PMC
- 10Al Shaikh A2 papers · 2021
King Abdulaziz Medical City, Ministry of the National Guard, Jeddah, Saudi Arabia.
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 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.
"Angel-shaped phalango-epiphyseal dysplasia" OR "ASPED"
MeSH descriptor terms unioned into the query: Angel shaped phalangoepiphyseal dysplasia
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Angel-shaped phalango-epiphyseal dysplasia" OR "ASPED" OR "Angel shaped phalangoepiphyseal dysplasia"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase
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 2026-07-27T01:07:30.518Z