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ORPHA:99732

Sulfite oxidase deficiency due to molybdenum cofactor deficiency

low confidenceSubtype of disorder

Also known as: Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase · MOCOD

Publications

1,339

Trials

0

Interventional, condition-specific

Researchers

163

Distinct authors in sample

Gene link

MOCS3

Moderate

Readiness

5/6

Stages with a signal

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (1)

combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase

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.”

5/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Moderate — MOCS3

  2. LiteraturePresent

    1,339 matched papers (837 in last 10 years) Source

  3. Phenotype characterisedPresent

    142 HPO annotations (e.g. Strabismus; Phonic tics; Intellectual disability) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationPartial

    1 FDA designation (none yet with FDA orphan-indication approval) — e.g. fosdenopterin Source

  6. 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?

Probably — there is moderate evidence for MOCS3.

GenCC classification: Moderate.

Phenotypes (Monarch / HPO)

142

Associated phenotypes · MONDO:0020480

  • Strabismus
  • Phonic tics
  • Intellectual disability
  • Babinski sign
  • Xanthinuria

Showing 5 of 142 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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)

1

Designation · no FDA orphan-indication approval yet

  • FDA fosdenopterin (Nulibry)Molybdenum cofactor deficiency · 2009-11-05

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

1

Drugs / clinical candidates · MONDO_0020480

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

1,339

1,339 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

1,339 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).

837 in the last 10 years · low confidence

Phrase hits: 28 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

163

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.

  1. 01
    Reiss J3 papers · 2010
    Papers in Europe PMC
  2. 02
    Chen S2 papers · 2021

    Department of Neonatology, The Second Affiliated Hospital & Yuying Children's Hospital, Wenzhou Medical University, Wenzhou, China.

    Papers in Europe PMC
  3. 03
    Chi CS2 papers · 2022

    School of Medicine, Chung Shan Medical University, 110, Sec. 1, Jianguo N. Rd, Taichung, 40201, Taiwan.

    Papers in Europe PMC
  4. 04
    Cohen N2 papers · 2000
    Papers in Europe PMC
  5. 05
    Dorche C2 papers · 2000
    Papers in Europe PMC
  6. 06
    Lee HF2 papers · 2022

    Division of Nursing, Jen-Teh Junior College of Medicine, Nursing and Management, 79-9, Sha-Luen Hu Xi-Zhou Li Hou-Loung Town, Miaoli, Taiwan. leehf@hotmail.com.tw.

    Papers in Europe PMC
  7. 07
    Liu Y2 papers · 2023

    Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.

    Papers in Europe PMC
  8. 08
    Mandel H2 papers · 2000
    Papers in Europe PMC
  9. 09
    Paprocka J2 papers · 2022

    Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, Poland.

    Papers in Europe PMC
  10. 10
    Shalata A2 papers · 2000

    Department of Genetics, Tamkin Human Molecular Genetics Research Facility, Technion-Israel Intitute of Technology, Bruce Rappaport Faculty of Medicine, Haifa, Israel.

    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.

low 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 Sulfite oxidase deficiency due to molybdenum cofactor deficiency — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

("Sulfite oxidase deficiency due to molybdenum cofactor deficiency" OR "Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase" OR "Combined deficiency of the sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase" OR "MOCOD") OR ("MOCS3" OR "MOCS3 syndrome" OR "MOCS3-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Sulfite oxidase deficiency due to molybdenum cofactor deficiency" OR "Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase" OR "Combined deficiency of the sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase" OR "MOCOD"

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

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1339) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T06:14:08.319Z