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ORPHA:2157

Histidinemia

medium confidenceDisorder

Also known as: HAL deficiency · HIS deficiency · Histidase deficiency · Histidine ammonia-lyase deficiency · Histidinuria · Hyperhistidinemia

Publications

1,061

82.5th percentile

Trials

0

Interventional, condition-specific

Researchers

1,153

Distinct authors in sample

Gene link

HAL

Moderate

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Histidinemia is a rare disorder characterized by elevated histidine levels in blood, urine, and cerebrospinal fluid, generally with no clinical repercussions.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

Hal deficiency · histidase deficiency · histidine ammonia-lyase deficiency · histidinemia · histidinuria · hyperhistidinemia

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.

  1. Gene identifiedPresent

    Moderate — HAL

  2. LiteraturePresent

    1,061 matched papers (461 in last 10 years) Source

  3. Phenotype characterisedPresent

    39 HPO annotations (e.g. Long philtrum; Ventriculomegaly; Cerebral cortical atrophy) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

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

GenCC classification: Moderate.

Phenotypes (Monarch / HPO)

39

Associated phenotypes · MONDO:0009345

  • Long philtrum
  • Ventriculomegaly
  • Cerebral cortical atrophy
  • Short middle phalanx of finger
  • Rounded middle phalanx of finger

Showing 5 of 39 — 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 2026-07-29

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

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?

1,061

1,061 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.

1,061 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).

461 in the last 10 years · medium confidence · 82.5th percentile (publications denominator)

Phrase hits: 1,040 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,153

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
    Wang Y6 papers · 2025

    Key Laboratory of Geriatric Nutrition and Health, Beijing Technology and Business University, Ministry of Education, Beijing 100048, China.

    Papers in Europe PMC
  2. 02
    Liu X5 papers · 2025

    School of Animal Science, Xinjiang Agricultural University, Urumqi, China.

    Papers in Europe PMC
  3. 03
    Levy HL4 papers · 2021

    Division of Genetics, Children's Hospital Boston, Department of Pediatrics, Harvard Medical School, Boston, MA, USA.

    Papers in Europe PMC
  4. 04
    Liu Y4 papers · 2026

    Department of Forensic Pathology, School of Basic Medicine and Forensic Medicine, North Sichuan Medical College, Nanchong, China.

    Papers in Europe PMC
  5. 05
    Chen J3 papers · 2026

    General Hospital of Northern Theater Command of China Medical University, Shenyang, Liaoning Province, P.R. China.

    Papers in Europe PMC
  6. 06
    Dutra-Filho CS3 papers · 2012
    Papers in Europe PMC
  7. 07
    Li L3 papers · 2026

    NMPA Key Laboratory for Quality Control of Traditional Chinese Medicine, Shanghai Institute for Food and Drug Control, Shanghai, China.

    Papers in Europe PMC
  8. 08
    Li Y3 papers · 2026

    Department of Neurology, Guangyuan First People's Hospital, Guangyuan, China.

    Papers in Europe PMC
  9. 09
    Lin X3 papers · 2025

    Harvard School of Public HealthBoston, Massachusetts, USA.

    Papers in Europe PMC
  10. 10
    Wannmacher CM3 papers · 2012
    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.

medium 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 40 · after dedupe 39 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 39 · 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).

Uncertain / not reviewed (39)

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 Histidinemia — 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.

("Histidinemia" OR "HAL deficiency" OR "HIS deficiency" OR "Histidase deficiency" OR "Histidine ammonia-lyase deficiency" OR "Histidinuria" OR "Hyperhistidinemia") OR ("HAL syndrome" OR "HAL-related")

Run this search on Europe PMC

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

"Histidinemia" OR "HAL deficiency" OR "HIS deficiency" OR "Histidase deficiency" OR "Histidine ammonia-lyase deficiency" OR "Histidinuria" OR "Hyperhistidinemia"

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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T19:19:27.095Z