ORPHA:79651
Mild hyperphenylalaninemia
Also known as: Mild HPA · Non-PKU HPA · mHPA
Publications
564
77th percentile
Trials
0
Interventional, condition-specific
Researchers
1,222
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
A rare form of phenylketonuria, an inborn error of amino acid metabolism, characterized by blood phenylalanine (Phe) concentrations of 120-600 micromol/L with or without clinical manifestations of impaired cognitive function, and behavioral and developmental disorders.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019335
- UMLS:C5680207
Additional Mondo synonyms (2)
mild HPA · non-PKU HPA
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
564 matched papers (320 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
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?
564
564 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.
564 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).
320 in the last 10 years · medium confidence · 77th percentile (publications denominator)
Phrase hits: 564 · MeSH hits: 0
Who's working on it?
1,222
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.
- 01
- 02Couce ML7 papers · 2026
Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, S. Neonatology, Department of Pediatrics, Hospital Clínico Universitario de Santiago de Compostela, CIBERER, Health Research Institute of Santiago de Compostela (IDIS), A Choupana, s/n, 15706 Santiago de Compostela, A Coruña, Spain. maria.luz.couce.pico@sergas.es.
Papers in Europe PMC - 03Wang Y7 papers · 2024
Peking University First Hospital Ningxia Women and Children's Hospital (Ningxia Hui Autonomous Region Maternal and Child Health Hospital), Yinchuan City, Ningxia Hui Autonomous Region, China.
Papers in Europe PMC - 04Blau N5 papers · 2026
University Children's Hospital in Zurich, Zurich, Switzerland.
Papers in Europe PMC - 05Desviat LR5 papers · 2024
Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), CIBERER Universidad Autónoma de Madrid, Madrid, Spain.
Papers in Europe PMC - 06Leuzzi V5 papers · 2021
Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, University La Sapienza, 00185, Rome, Italy.
Papers in Europe PMC - 07Muntau AC5 papers · 2024
University Children's Hospital, University Medical Center Hamburg Eppendorf, 20246 Hamburg, Germany.
Papers in Europe PMC - 08Porta F5 papers · 2020
Department of Pediatrics, AOU Citta' della Salute e della Scienza di Torino, 10126 Torino, Italy.
Papers in Europe PMC - 09Sivri S5 papers · 2025
Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Papers in Europe PMC - 10Spada M5 papers · 2021
Department of Pediatrics, Regina Margherita Children's Hospital, University of Torino, 10126, Turin, Italy.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
Observational and natural-history studies
1 observational study matches 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.
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 10 · after dedupe 10 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 10 · dropped 0 · fetched 2026-07-30
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 (10)
- isrctn·ISRCTN79102999·No longer recruiting·A Phase III study of sepiapterin versus sapropterin in participants with phenylketonuria ≥2 years of age
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN17841362·Recruiting·A study of nipocalimab or intravenous immunoglobulin in pregnancies at risk of fetal and neonatal alloimmune thrombocytopaenia
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN17751649·Recruiting·Enhanced cognitive behavioural therapy for self-harm in comorbid physical and mental health conditions: a pragmatic randomised controlled trial
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN26461337·No longer recruiting·A patient study to determine the effectiveness of a needle-free test for the diagnosis of adrenal insufficiency
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN62724177·No longer recruiting·A healthy volunteer study to determine the effectiveness of a needle-free test for the diagnosis of adrenal insufficiency
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN31708861·No longer recruiting·Serum hormone levels in women with chronic pain
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN98806770·No longer recruiting·Time course of hypothalamic-pituitary adrenal alterations in response to critical illness
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN95084335·No longer recruiting·Study to identify novel drivers of platelet production in platelet apheresis donors
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN10158455·No longer recruiting·Human Cigarette Smoke Challenge Study
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN48078312·No longer recruiting·American skullcap (Scutellaria lateriflora): a study of its effects on mood in healthy volunteers
skipped — LLM skipped (--skip-llm)
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 Mild hyperphenylalaninemia — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26Likely covered — the policy lists Phenylketonuria (PKU) as a category (Group 2), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.
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.
"Mild hyperphenylalaninemia" OR "Mild HPA" OR "Non-PKU HPA"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Mild hyperphenylalaninemia" OR "Mild HPA" OR "Non-PKU HPA"
Study-type breakdown: 0 interventional · 1 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
Synonyms dropped by stoplist: mHPA
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T02:32:39.455Z