ORPHA:308400
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Also known as: Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C · MOCOD type C
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Is anyone studying this?
10
10 papers have ever been indexed 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=183) is 38.
10 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
9 in the last 10 years · high confidence · 29th percentile (publications denominator)
Is a treatment being tested?
0
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 26 July 2026
0
no matched trials for sulfite oxidase deficiency due to molybdenum cofactor deficiency, the broader category this belongs to either
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (GPHN).
GenCC classification: Strong.
Who's working on it?
77
Distinct author names in 10 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.
- 01Abdelhak S1 paper · 2021
Biomedical Genomics and Oncogenetics Laboratory (LR16IPT05), Institut Pasteur de Tunis, Tunis, Tunisia.
Papers in Europe PMC - 02Amela I1 paper · 2018
Departament de Bioquímica i Biologia Molecular and Institut de Biotecnologia i Biomedicina, Universitat Autònoma de Barcelona, 08193, Cerdanyola del Vallès, Barcelona, Spain.
Papers in Europe PMC - 03Ayyanar P1 paper · 2025
Department of Pathology and Laboratory Medicine, All India Institute of Medical Sciences, Bhubaneswar, Bhubaneswar, IND.
Papers in Europe PMC - 04Balanica S1 paper · 2025
Department of Nephrology, Fundeni Clinical Institute, 022328 Bucharest, Romania.
Papers in Europe PMC - 05Bobeica R1 paper · 2025
Department of Nephrology, Fundeni Clinical Institute, 022328 Bucharest, Romania.
Papers in Europe PMC - 06Brault J1 paper · 2021
Department of Pediatrics, Division of Pediatric Neurology, Vanderbilt University School of Medicine, Nashville, Tennessee, United States.
Papers in Europe PMC - 07
- 08Cedano J1 paper · 2018
Laboratorio de Inmunología, Universidad de la República Regional Norte-Salto, Rivera 1350, 50000, Salto, Uruguay.
Papers in Europe PMC - 09Chouchane L1 paper · 2021
Department of Genetic Medicine, Weill Cornell Medicine, New York, NY, USA.
Papers in Europe PMC - 10Dallali H1 paper · 2021
Biomedical Genomics and Oncogenetics Laboratory (LR16IPT05), Institut Pasteur de Tunis, Tunis, Tunisia.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
Broader category sulfite oxidase deficiency due to molybdenum cofactor deficiency also has no matched interventional trial. See who's working on it above — 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 below but are not added to the query string.
"Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C" OR "Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C" OR "MOCOD type C" OR "MOCODC" OR "molybdenum cofactor deficiency C" OR "molybdenum cofactor deficiency, complementation group type C"
MeSH descriptor terms unioned into the query: Molybdenum Cofactor Deficiency, Complementation Group C
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C" OR "Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C" OR "Combined deficiency of the sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C" OR "MOCOD type C" OR "MOCODC" OR "molybdenum cofactor deficiency C" OR "molybdenum cofactor deficiency, complementation group type C" OR "Molybdenum Cofactor Deficiency, Complementation Group C" OR "GPHN" OR "encephalopathy due to sulfite oxidase deficiency"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C565374 OMIM:615501 UMLS:C1854990
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; 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