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 2 strategies returned hits (phrase).
Publications
948
85.7th percentile
Trials
0
Interventional, condition-specific
Researchers
77
Distinct authors in sample
Gene link
GPHN
Strong
Readiness
3/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0014212
- MeSH:C565374
- OMIM:615501
- UMLS:C1854990
Additional Mondo synonyms (4)
MOCODC · combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C · molybdenum cofactor deficiency C · molybdenum cofactor deficiency, complementation group type C
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — GPHN
- LiteraturePresent
948 matched papers (691 in last 10 years) Source
- Phenotype characterisedPresent
21 HPO annotations (e.g. Hypoplasia of the pons; Reduced eye contact; Hypouricemia) 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?
Yes — we know a specific gene responsible (GPHN).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
21
Associated phenotypes · MONDO:0014212
- Hypoplasia of the pons
- Reduced eye contact
- Hypouricemia
- Poor head control
- Cerebellar hypoplasia
Showing 5 of 21 — 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 2026-07-27
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?
948
948 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.
948 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).
691 in the last 10 years · high confidence · 85.7th percentile (publications denominator)
Phrase hits: 10 · MeSH hits: 0
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
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 9 September 2026 · last trial check 9 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.
high 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 sulfite oxidase deficiency due to molybdenum cofactor deficiency 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: sulfite oxidase deficiency due to molybdenum cofactor deficiency
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 2026-07-27
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 type C — 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.
("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 (MESH:"Molybdenum Cofactor Deficiency, Complementation Group C") OR ("GPHN" OR "GPHN syndrome" OR "GPHN-related")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"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"sulfite oxidase deficiency due to molybdenum cofactor deficiency"
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 2026-07-26T01:47:34.914Z