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ORPHA:247598

Neonatal intrahepatic cholestasis due to citrin deficiency

high confidenceDisorder

Also known as: NICCD · Neonatal intrahepatic cholestasis caused by citrin deficiency

Query health: suspect — Only one of 3 strategies returned hits (phrase).

Publications

340

79.6th percentile

Trials

0

Interventional, condition-specific

Researchers

1,011

Distinct authors in sample

Gene link

SLC25A13

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A mild subtype of citrin deficiency characterized clinically by low birth weight, , transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, , decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and .

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 (2)

neonatal intrahepatic cholestasis caused by citrin deficiency · neonatal intrahepatic cholestasis due to citrin 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.”

3/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — SLC25A13

  2. LiteraturePresent

    340 matched papers (213 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 1 for broader category citrin deficiency

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 (SLC25A13).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

340

340 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=5449) is 41.

340 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

213 in the last 10 years · high confidence · 79.6th percentile (publications denominator)

Phrase hits: 340 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,011

Distinct author names in 200 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
    Song YZ20 papers · 2024

    Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou 510630, China.

    Papers in Europe PMC
  2. 02
    Kobayashi K12 papers · 2012
    Papers in Europe PMC
  3. 03
    Zhang ZH10 papers · 2021

    Department of Pediatrics, First Affiliated Hospital, Jinan University, Guangzhou 510630, China.

    Papers in Europe PMC
  4. 04
    Chen HL9 papers · 2025

    Hepatitis Research Center, National Taiwan University Hospital, Changde St. No.1, Zhongzhen Dist., Taipei 100, Taiwan.

    Papers in Europe PMC
  5. 05
    Lin WX9 papers · 2024

    Department of Pediatrics, the First Affiliated Hospital, Jinan University, Guangzhou, 510630, China.

    Papers in Europe PMC
  6. 06
    Saheki T9 papers · 2023

    Department of Hygiene and Health Promotion Medicine, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima 890-8544, Japan.

    Papers in Europe PMC
  7. 07
    Deng M8 papers · 2024

    Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou, China.

    Papers in Europe PMC
  8. 08
    Häberle J8 papers · 2026

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

    Papers in Europe PMC
  9. 09
    Chen FP7 papers · 2021

    Department of Laboratory Science, the First Affiliated Hospital, Jinan University, Guangzhou, 510630, China.

    Papers in Europe PMC
  10. 10
    Huang X7 papers · 2025

    Department of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China. xinwenhuang@126.com

    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). 1 trial are registered for citrin deficiency, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th 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.

1 interventional trial matched citrin deficiency, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: citrin deficiency

1

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

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 2026-07-26

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.

"Neonatal intrahepatic cholestasis due to citrin deficiency" OR "NICCD" OR "Neonatal intrahepatic cholestasis caused by citrin deficiency"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Neonatal-onset citrullinemia type 2

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

"Neonatal intrahepatic cholestasis due to citrin deficiency" OR "NICCD" OR "Neonatal intrahepatic cholestasis caused by citrin deficiency" OR "Neonatal-onset citrullinemia type 2" OR "SLC25A13"

Recall-expansion terms: SLC25A13

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"citrin deficiency"

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

Ingested 2026-07-27T10:32:57.352Z