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ORPHA:147

Carbamoyl-phosphate synthetase 1 deficiency

low confidenceDisorder

Also known as: CPS1 deficiency · CPS1D · Carbamoyl-phosphate synthetase I deficiency · Carbamoyl-phosphate synthetase deficiency

Publications

4,893

Trials

1

Interventional, condition-specific

Researchers

1,324

Distinct authors in sample

Gene link

CPS1

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare, severe disorder of urea cycle metabolism typically characterized by either a -onset of severe that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, , coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of .

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

carbamoyl phosphate synthetase I deficiency disease · carbamoyl phosphate synthetase deficiency · carbamoyl-phosphate synthase deficiency disease · carbamoyl-phosphate synthetase I deficiency · carbamoyl-phosphate synthetase deficiency · carbamoylphosphate synthetase I deficiency

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — CPS1

  2. LiteraturePresent

    4,893 matched papers (3,414 in last 10 years) Source

  3. Phenotype characterisedPresent

    24 HPO annotations (e.g. Stroke; Lethargy; Vomiting) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

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 (CPS1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

24

Associated phenotypes · MONDO:0009376

  • Stroke
  • Lethargy
  • Vomiting
  • Hypoargininemia
  • Seizure

Showing 5 of 24 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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)

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

2

Drugs / clinical candidates · MONDO_0009376

CTD chemicals (MyDisease.info)

3 associated chemicals · 10 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Benzoic Acid · therapeutic
  • phenylacetic acid · therapeutic
  • Sodium Benzoate · therapeutic

Pathways: Arginine biosynthesis; Alanine, aspartate and glutamate metabolism; Nitrogen metabolism; Metabolic pathways; Carbon metabolism; Biosynthesis of amino acids; Urea cycle; Metabolism

MyDisease.info · MONDO:0009376

Literature

Is anyone studying this?

4,893

4,893 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.

4,893 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).

3,414 in the last 10 years · low confidence

Phrase hits: 581 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,324

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Häberle J13 papers · 2025

    a Division of Metabolism , University Children's Hospital Zurich and Children's Research Center , Zurich , Switzerland.

    Papers in Europe PMC
  2. 02
    Li J9 papers · 2026

    Department of Vascular Surgery, Affiliated Hospital of Qingdao University, Qingdao 266700, China.

    Papers in Europe PMC
  3. 03
    Zhang H8 papers · 2026

    Institute of Pediatric Research, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China. gaizhongtao@sina.com.

    Papers in Europe PMC
  4. 04
    Wang C6 papers · 2026

    CAS Key Laboratory of Epigenetic Regulation and Intervention, Shanghai Key Laboratory of Molecular Andrology, Shanghai Institute of Biochemistry and Cell Biology, Center for Excellence in Molecular Cell Science, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai 200031, China.

    Papers in Europe PMC
  5. 05
    Yang J6 papers · 2026

    Department of Gastroenterology, Second Affiliated Hospital of Kunming Medical University, Kunming, 650101, Yunnan, China. Electronic address: yangjinhui@kmmu.edu.cn.

    Papers in Europe PMC
  6. 06
    Zhang J6 papers · 2026

    Regional Medical Center for National Institute of Respiratory Diseases, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, No.3 Qingchun East Road, Shangcheng District, Hangzhou, 310016, Zhejiang, China.

    Papers in Europe PMC
  7. 07
    Zhang Y6 papers · 2026

    The International Cooperation Laboratory on Signal Transduction, Eastern Hepatobiliary Surgery Hospital, Second Military Medical University, Shanghai, China.

    Papers in Europe PMC
  8. 08
    Li H5 papers · 2026

    State Key Laboratory of Proteomics, National Center for Protein Sciences (Beijing), Beijing Institute of Radiation Medicine, Beijing 100850, China.

    Papers in Europe PMC
  9. 09
    Li X5 papers · 2026

    College of Animal Sciences, Jilin University, Changchun 130062, China.

    Papers in Europe PMC
  10. 10
    Lipshutz GS5 papers · 2025

    Molecular Biology Institute, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA; Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA; Molecular and Medical Pharmacology, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA; Psychiatry, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA; Intellectual and Developmental Disabilities Research Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA; Semel Institute for Neuroscience, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA. Electronic address: glipshutz@mednet.ucla.edu.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Observational and natural-history studies

2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

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 2026-07-29

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 Carbamoyl-phosphate synthetase 1 deficiency — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Likely covered — the policy lists Urea cycle disorder as a category (Groups 1 and 2), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.

Group 1 — one-time curative treatment

Up to ₹50 lakh per patient

Financial support for treatment at notified Centres of Excellence (figures evolved from the original ₹20 lakh Group-1 ceiling).

Policy figures change. Verify current MoHFW / CoE guidance before relying on any amount. Verify

Group 2 — long-term / lifelong lower-cost interventions

NPRD envisages State Government support for dietary formulae, hormones, and other lower-cost interventions. This is a different route from the central CoE ₹50 lakh pathway; ask your state health department and a CoE which channel applies.

Central CoE funding may also apply depending on current rules — confirm with a notified Centre of Excellence. Do not assume the ₹50 lakh ceiling covers Group 2 by default. Verify

Centres of Excellence (15)
  • All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
  • Maulana Azad Medical College — New Delhi, Delhi
  • Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
  • Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
  • Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
  • King Edward Memorial Hospital — Mumbai, Maharashtra
  • Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
  • Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
  • Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
  • All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
  • Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
  • All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
  • Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
  • All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
  • Assam Medical College & Hospital — Dibrugarh, Assam

Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/

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.

("Carbamoyl-phosphate synthetase 1 deficiency" OR "CPS1 deficiency" OR "CPS1D" OR "Carbamoyl-phosphate synthetase I deficiency" OR "Carbamoyl-phosphate synthetase deficiency" OR "carbamoyl phosphate synthetase I deficiency disease" OR "carbamoyl phosphate synthetase deficiency" OR "carbamoyl-phosphate synthase deficiency disease" OR "carbamoylphosphate synthetase I deficiency") OR ("CPS1" OR "CPS1 syndrome" OR "CPS1-related")

Run this search on Europe PMC

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

"Carbamoyl-phosphate synthetase 1 deficiency" OR "CPS1 deficiency" OR "CPS1D" OR "Carbamoyl-phosphate synthetase I deficiency" OR "Carbamoyl-phosphate synthetase deficiency" OR "carbamoyl phosphate synthetase I deficiency disease" OR "carbamoyl phosphate synthetase deficiency" OR "carbamoyl-phosphate synthase deficiency disease" OR "carbamoylphosphate synthetase I deficiency"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 2 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 (4893) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T12:39:20.664Z