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Currarino syndrome (CS) is a rare congenital disease characterized by the triad of anorectal malformations (ARMs) (usually anal stenosis), presacral mass (commonly anterior sacral meningocele (ASM) or teratoma) and sacral anomalies (i.e. total or partial agenesis of the sacrum and coccyx or deformity of the sacral vertebrae).
Features include very common findings: Aplasia/Hypoplasia of the sacrum and Sacrococcygeal teratoma; and common findings: Anal stenosis, Anal atresia, Abdominal distention, and Chronic constipation and others. 39 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Kidneys and urinary system | 5 | Urinary incontinence, Horseshoe kidney, Recurrent urinary tract infections |
MNX1 encodes motor neuron and pancreas homeobox 1 (401 aa). Transcription factor. Recognizes and binds to the regulatory elements of target genes, such as visual system homeobox CHX10, negatively modulating transcription. Highest expression in Pancreas (7.7 TPM) and Cells EBV-transformed lymphocytes (5.3 TPM).
Currarino triad is associated with mutations in the MNX1 gene on chromosome 7.
MNX1 is classified as a druggable target (Clinically Actionable and Transcription Factor categories) with score 26.1.
Genetic testing for MNX1 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 2 very common features, 8 common features.
Estimated prevalence: 1-9 in 100,000 (Uncommon).
No clinical trials have been registered for Currarino triad.
16 publications have been identified in PubMed for Currarino triad. Research spans Review / Meta-Analysis (38%), Case Report / Case Series (31%), and Epidemiology / Natural History (19%).
Research Type | Count | % of Total |
|---|---|---|
Research summaries | 6 | 38% |
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Currarino triad
Digestive system |
5 |
Abdominal distention, Chronic constipation, Gastrointestinal obstruction |
Brain and nerves | 3 | Global developmental delay, Hydrocephalus, Meningitis |
Blood and immune system | 1 | Recurrent urinary tract infections |
Muscles | 1 | Abdominal cramps |
Arms and legs | 1 | Lower limb asymmetry |
5 |
31% |
Disease patterns and progression | 3 | 19% |
Other research | 2 | 13% |
Wang X (2026). [PMID: 41871837](https://pubmed.ncbi.nlm.nih.gov/41871837/). *Congenit Anom (Kyoto)*. [Case Report / Case Series]
Tian T (2026). [PMID: 41972029](https://pubmed.ncbi.nlm.nih.gov/41972029/). *Quant Imaging Med Surg*. [Other]
Ehrlich PF (2026). [PMID: 41651110](https://pubmed.ncbi.nlm.nih.gov/41651110/). *J Pediatr Surg*. [Other]
Reddi S (2026). [PMID: 41916044](https://pubmed.ncbi.nlm.nih.gov/41916044/). *Int J Obstet Anesth*. [Review / Meta-Analysis]
Jung JH (2026). [PMID: 41486773](https://pubmed.ncbi.nlm.nih.gov/41486773/). *J Yeungnam Med Sci*. [Case Report / Case Series]
Al Zahra F (2026). [PMID: 41552801](https://pubmed.ncbi.nlm.nih.gov/41552801/). *J Surg Case Rep*. [Case Report / Case Series]
Sussi G (2026). [PMID: 41989599](https://pubmed.ncbi.nlm.nih.gov/41989599/). *Childs Nerv Syst*. [Review / Meta-Analysis]
Ghabili K (2025). [PMID: 40839539](https://pubmed.ncbi.nlm.nih.gov/40839539/). *Radiographics*. [Review / Meta-Analysis]
Yang G (2025). [PMID: 40306754](https://pubmed.ncbi.nlm.nih.gov/40306754/). *BMJ Case Rep*. [Case Report / Case Series]
Datta D (2025). [PMID: 40936035](https://pubmed.ncbi.nlm.nih.gov/40936035/). *Childs Nerv Syst*. [Review / Meta-Analysis]