Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.
Features include always present findings: Hydrocephalus, Pleural effusion, Dandy-Walker malformation, and Talipes equinovarus and others; and rarely findings: Seizure and Pericardial effusion. 50 total HPO annotations.
Organ System
Phenotype Count
Example Features
Brain and nerves
10
Seizure, Kinked brainstem, Hydrocephalus
Genetic Landscape
Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.
BLTP1 encodes bridge-like lipid transfer protein family member 1 (5,005 aa). Bridge-like lipid transfer protein that functions as molecular bridges between endoplasmic reticulum and the membranes targeted for lipid delivery. Highest expression in Pituitary (33.5 TPM) and Nerve Tibial (32.9 TPM).
Alkuraya-Kucinskas syndrome is associated with mutations in the BLTP1 gene on chromosome 4.
BLTP1 is classified as a druggable target with score 0.0.
Diagnosis
Genetic testing for BLTP1 is available. Testing is considered confirmatory for diagnosis.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
Research Landscape
Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.
No clinical trials have been registered for Alkuraya-Kucinskas syndrome.
4 publications have been identified in PubMed for Alkuraya-Kucinskas syndrome. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (25%), and Basic Science / Preclinical (25%).
Recent Publications
Zhen L (2025). [PMID: 40206966](https://pubmed.ncbi.nlm.nih.gov/40206966/). *J Med Ultrasound*. [Case Report / Case Series]
Liu Y (2025). [PMID: 40973493](https://pubmed.ncbi.nlm.nih.gov/40973493/). *J Neurosci*. [Basic Science / Preclinical]
Swan LE (2025). [PMID: 40356703](https://pubmed.ncbi.nlm.nih.gov/40356703/). *Front Neurosci*. [Review / Meta-Analysis]
Rice SM (2024). [PMID: 39228063](https://pubmed.ncbi.nlm.nih.gov/39228063/). *Prenat Diagn*. [Review / Meta-Analysis]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:51 AM UTC
Diseases are connected by shared genes, phenotypes, therapeutic targets, and MONDO disease hierarchy. The Rare badge reflects Kisho's rarity classification — scored from authoritative sources including OMIM, Orphanet, orphan drug designations, clinical trial activity, and published prevalence data.
→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?
FAQ
Frequently Asked Questions
Common questions about Alkuraya-Kucinskas syndrome
Information about the overall condition is currently limited for this condition. Available sources do not provide a detailed definition of Alkuraya-Kucinskas syndrome.
Information about symptoms is currently limited for this condition.
Information about the causes is currently limited for this condition. It is known that the BLTP1 gene is associated with Alkuraya-Kucinskas syndrome as noted by the provided gene information. Associated genes include BLTP1.
FDA approved Casgevy CRISPR gene therapy for children as young as 2 with sickle cell disease on July 1, 2026. Here's what families need to know about this milestone. Approximately 5,500 additional American children are now eligible for this established one-time therapy, according to Vertex Pharmaceuticals, Casgevy's developer. Casgevy also covers transfusion-dependent beta-thalassemia in this new age indication. Sickle cell disease is a lifelong inherited blood disorder that warps red blood cells into stiff, crescent shapes that can block blood flow, starving organs and tissues of oxygen. The world's first CRISPR-based gene therapy has been approved for children as young as two years old, opening the possibility of a single, potentially curative treatment to thousands of American children with sickle cell disease before years of organ damage can narrow what medicine can do for them. Families with children aged 2 and older who have sickle cell disease should speak with their pediatric hematologist about whether Casgevy is appropriate to consider at this stage of their child's disease. Ask specifically which authorized treatment centers perform Casgevy in your region. Treatment is available only at specialized sites, and geographic access remains limited. Contact your child's insurance plan or Medicaid office to ask about coverage. Medicaid coverage for gene therapies varies by state, and some states have developed outcomes-based payment models for high-cost therapies. "With today's decision, pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases," said Karim Mikhail, acting director of the Office of Therapeutic Products at the FDA's Center for Biologics Evaluation and Research, according to the FDA press announcement. Casgevy is a non-viral, ex vivo CRISPR/Cas9 gene-edited cell therapy.
