ORPHA:610569
KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome
Also known as: Alkuraya-Kucinskas syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
30
43.1th percentile
Trials
0
Interventional, condition-specific
Researchers
263
Distinct authors in sample
Gene link
BLTP1
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare multiple anomalies/ syndrome characterized by severe brain malformations associated with cerebral parenchymal underdevelopment, arthrogryposis and club feet due to mutations in KIAA1109 gene. Majority of the cases are early lethal. Milder cases may present with severe global , , microcephaly, hydrocephaly, heart defects, renal problems, severe muscle causing incapacity to stand without a support,, syndactlyly and variable facial features (including hypotelorism, hypertelorism, small eyes, low-set and posteriorly rotated ears, short nose, flattened nasal bridge, anteverted nares, retrognathia).
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:0060631
- OMIM:617822
- UMLS:C4693347
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.”
2/6 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 — BLTP1
- LiteraturePresent
30 matched papers (29 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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 (BLTP1).
GenCC classification: Definitive.
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?
30
30 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.
30 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).
29 in the last 10 years · high confidence · 43.1th percentile (publications denominator)
Phrase hits: 30 · MeSH hits: 0
Who's working on it?
263
Distinct author names in 30 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.
- 01Liu Y3 papers · 2024
Medical Genetic Center, Shenzhen Maternity and Child Healthcare Hospital, Southern Medical University, Shenzhen, Guangdong, China.
Papers in Europe PMC - 02Al-Kouatly HB2 papers · 2024
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, PA, USA.
Papers in Europe PMC - 03Bassik M2 papers · 2022
Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
Papers in Europe PMC - 04Berger SI2 papers · 2024
Center for Genetic Medicine Research & Rare Disease Institute, Children's National Medical Center, Washington, DC, USA. sberger@cnmc.org.
Papers in Europe PMC - 05Chen L2 papers · 2024
Prenatal Diagnosis Center, Shenzhen Maternity and Child Healthcare Hospital, Southern Medical University, Shenzhen, Guangdong, China.
Papers in Europe PMC - 06Deng H2 papers · 2022
Department of Biology, Howard Hughes Medical Institute, Stanford University, Stanford, CA, USA.
Papers in Europe PMC - 07Guo R2 papers · 2022
Cardiovascular Research Institute and Department of Physiology, University of California San Francisco, San Francisco, CA, USA.
Papers in Europe PMC - 08Li J2 papers · 2024
School of Medicine, Huaqiao University, Quanzhou 362021, China.
Papers in Europe PMC - 09Lin W2 papers · 2022
Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX, USA.
Papers in Europe PMC - 10Liu J2 papers · 2024
School of Medicine, Huaqiao University, Quanzhou 362021, China.
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 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 2026-07-26This 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.
"KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome" OR "Alkuraya-Kucinskas syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome" OR "Alkuraya-Kucinskas syndrome" OR "BLTP1"
Recall-expansion terms: BLTP1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, 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 2026-07-27T19:02:15.461Z