ORPHA:289157
Hypocalcemic vitamin D-dependent rickets
Also known as: 1-alpha-hydroxylase deficiency · PDDRI · Pseudovitamin D-deficient rickets · VDDI · VDDR-I · Vitamin D dependent rickets type I · Vitamin D-dependency type I
Publications
320
62.3th percentile
Trials
0
Interventional, condition-specific
Researchers
556
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic disorder of vitamin D metabolism characterized by severe hypocalcemia leading to osteomalacia and rachitic bone deformations, and moderate hypophosphatemia.
How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009924
- MeSH:C562688
- UMLS:C0268689
- NCIT:C131073
Additional Mondo synonyms (10)
1 Alpha-hydroxylase deficiency · VDDR1 · hypocalcemic vitamin D-dependent rickets · pseudo vitamin-D deficient rickets · pseudovitamin D-deficient rickets · selective 1-alpha, 25-hydroxyvitamin D3 deficiency · vitamin D 1 Alpha-Hydroxylase deficiency · vitamin D dependent rickets type I · vitamin D-dependency type I · vitamin D-dependent rickets type 1
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.”
3/6 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
320 matched papers (141 in last 10 years) Source
- Phenotype characterisedPresent
129 HPO annotations (e.g. Motor delay; Tetany; Bone pain) Source
- Animal modelPresent
1 genotype model (Danio rerio) Source
- 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)
129
Associated phenotypes · MONDO:0009924
- Motor delay
- Tetany
- Bone pain
- Delayed epiphyseal ossification
- Osteomalacia
Showing 5 of 129 — open Monarch for the full list.
Animal models (Monarch / Alliance)
1
Model associations linked to this Mondo ID
- cyp2r1zf734/zf734·ZFIN:ZDB-FISH-171005-19·Danio rerio
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?
320
320 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.
320 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).
141 in the last 10 years · medium confidence · 62.3th percentile (publications denominator)
Phrase hits: 0 · MeSH hits: 0
Who's working on it?
556
Distinct author names in 100 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.
- 01Kitanaka S4 papers · 2018
Institute of Molecular and Cellular Biosciences, The University of Tokyo, Japan.
Papers in Europe PMC - 02Kato S3 papers · 2026
Department of Pharmacy, Iryo Sosei University, Chuodai Iino, Iwaki 970-8551, Fukushima, Japan
Papers in Europe PMC - 03Li X3 papers · 2026
Department of Stomatology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Papers in Europe PMC - 04Miller WL3 papers · 2017
Department of Pediatrics, University of California at San Francisco, Berkeley, USA.
Papers in Europe PMC - 05Portale AA3 papers · 2025
Department of Pediatrics, University of California San Francisco, San Francisco, CA 94115, USA.
Papers in Europe PMC - 06Al Zahrani A2 papers · 2023
Pediatric Endocrinology, King Faisal Specialist Hospital and Research Centre, Riyadh, SAU.
Papers in Europe PMC - 07Alhuthil R2 papers · 2026
Pediatric Nephrology, Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Papers in Europe PMC - 08Alzahrani AS2 papers · 2011
Departments of Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Papers in Europe PMC - 09Baitei EY2 papers · 2011Papers in Europe PMC
- 10Baran RT2 papers · 2025
Department of Pediatric Endocrinology, University of Health Sciences Antalya Training and Research Hospital, Antalya, Turkey.
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.
Broader category vitamin D-dependent rickets also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: vitamin D-dependent rickets
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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 Hypocalcemic vitamin D-dependent rickets — 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.
"Hypocalcemic vitamin D-dependent rickets" OR "1-alpha-hydroxylase deficiency" OR "PDDRI" OR "Pseudovitamin D-deficient rickets" OR "VDDR-I" OR "Vitamin D dependent rickets type I" OR "Vitamin D-dependency type I" OR "1 Alpha-hydroxylase deficiency" OR "VDDR1" OR "pseudo vitamin-D deficient rickets" OR "selective 1-alpha, 25-hydroxyvitamin D3 deficiency" OR "vitamin D 1 Alpha-Hydroxylase deficiency" OR "vitamin D-dependent rickets type 1"
MeSH descriptor terms unioned into the query: Vitamin D Hydroxylation-Deficient Rickets, Type 1A
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hypocalcemic vitamin D-dependent rickets" OR "1-alpha-hydroxylase deficiency" OR "PDDRI" OR "Pseudovitamin D-deficient rickets" OR "VDDR-I" OR "Vitamin D dependent rickets type I" OR "Vitamin D-dependency type I" OR "1 Alpha-hydroxylase deficiency" OR "VDDR1" OR "pseudo vitamin-D deficient rickets" OR "selective 1-alpha, 25-hydroxyvitamin D3 deficiency" OR "vitamin D 1 Alpha-Hydroxylase deficiency" OR "vitamin D-dependent rickets type 1" OR "Vitamin D Hydroxylation-Deficient Rickets, Type 1A"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"vitamin D-dependent rickets"
Query health: ok — strategies attempted: phrase, mesh; with hits: none
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: VDDI
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 2026-07-27T12:10:40.481Z