ORPHA:86816
Congenital analbuminemia
Publications
108
51.7th percentile
Trials
0
Interventional, condition-specific
Researchers
556
Distinct authors in sample
Gene link
ALB
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
analbuminemia (CAA) is characterized by the absence or dramatic reduction of circulating human serum albumin (HSA).
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0014449
- OMIM:616000
- UMLS:C4305253
- NCIT:C124851
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
Definitive — ALB
- LiteraturePresent
108 matched papers (67 in last 10 years) Source
- Phenotype characterisedPresent
31 HPO annotations (e.g. Small for gestational age; Premature birth; Hypoproteinemia) 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 (ALB).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
31
Associated phenotypes · MONDO:0014449
- Small for gestational age
- Premature birth
- Hypoproteinemia
- Hyperlipidemia
- Elevated circulating alpha-globulin concentration
Showing 5 of 31 — 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?
108
108 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=3967) is 59.
108 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).
67 in the last 10 years · high confidence · 51.7th percentile (publications denominator)
Phrase hits: 70 · MeSH hits: 0
Who's working on it?
556
Distinct author names in 70 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.
- 01Campagnoli M13 papers · 2020
Department of Biochemistry A.Castellani, University of Pavia, viale Taramelli 3B, 27100 Pavia, Italy.
Papers in Europe PMC - 02Minchiotti L13 papers · 2020
Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Papers in Europe PMC - 03Galliano M11 papers · 2019
Department of Biochemistry A. Castellani, Università di Pavia, 27100 Pavia, Italy.
Papers in Europe PMC - 04Caridi G10 papers · 2020
Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Genova, Italy. gianlucacaridi@ospedale-gaslini.ge.it
Papers in Europe PMC - 05Lugani F7 papers · 2020
Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Genova, Italy.
Papers in Europe PMC - 06Dagnino M5 papers · 2014
Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Genova 16148, Italy; E-Mails: monicadagnino@ospedale-gaslini.ge.it (M.D.); gianlucacaridi@ospedale-gaslini.ge.it (G.C.).
Papers in Europe PMC - 07Abdollahi A4 papers · 2024
Department of Nutrition Science, Purdue University, West Lafayette, Indiana, USA.
Papers in Europe PMC - 08Angelico F4 papers · 2021
Department of Public Health and Infectious Diseases, Sapienza University, Rome, Italy.
Papers in Europe PMC - 09Del Ben M4 papers · 2021
Maria Del Ben, Francesco Angelico, Lorenzo Loffredo, Francesco Violi, Clinica Medica I, Sapienza University, 00161 Rome, Italy.
Papers in Europe PMC - 10Henderson GC4 papers · 2024
Department of Nutrition Science, Purdue University, West Lafayette, Indiana, USA.
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.
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.
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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).
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 Congenital analbuminemia — 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.
("Congenital analbuminemia") OR ("ALB syndrome" OR "ALB-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Congenital analbuminemia"
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 multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T03:06:21.907Z