Currarino syndrome

Preferred Label : Currarino syndrome;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Currarino triad;

Included titles and symbols : Sacral agenesis syndrome; Sacral agenesis, hereditary, with presacral mass, anterior meningocele, and/or teratoma, and anorectal malformation; Scra1;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homeobox-HB9 gene (HLXB9, 142994.0001);

Neoplasia : Presacral teratoma;

Prefixed ID : #176450;

Details

Origin ID

176450;

UMLS CUI

C1531773;

Automatic exact mappings (from CISMeF team)
- Caudal regression syndrome [ORDO Disease]
- Currarino syndrome [MedDRA Preferred Term]
- Currarino syndrome [DO Concept]
- MNX1 wt Allele [NCIt concept]
- Sacral Agenesis, Hereditary, With Presacral Mass, Anterior Meningocele, And-Or Teratoma, And Anorectal Malformation [MeSH concept]
- motor neuron and pancreas homeobox 1 [ORDO Gene]
- sacral agenesis syndrome [MeSH Supplementary Concept]
- sacral agenesis syndrome [MeSH concept]
Currated CISMeF NLP mapping
- Currarino syndrome [PASCAL descriptor]
- Currarino syndrome [ORDO Disease]
- Currarino triad [ICD-11 More detail]
- Currarino triad [MeSH concept]
- Currarino triad (disorder) [SNOMED CT concept]
- currarino syndrome [Disease (Nov.)]
- currarino triad [MeSH Supplementary Concept]
DO Cross reference
- Currarino syndrome [DO Concept]
Genes related to phenotype
- Motor neuron and pancreas homeobox 1 [OMIM gene]
HPO term(s)
- Abdominal distention [HPO term]
- Anal atresia [HPO term]
- Anal fistula [HPO term]
- Anal stenosis [HPO term]
- Anterior sacral meningocele [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bicornuate uterus [HPO term]
- Bifid sacrum [HPO term]
- Chronic constipation [HPO term]
- Gastrointestinal obstruction [HPO term]
- Global developmental delay [HPO term]
- Hemisacrum [HPO term]
- Horseshoe kidney [HPO term]
- Incomplete penetrance [HPO term]
- Neurogenic bladder [HPO term]
- Perianal abscess [HPO term]
- Presacral teratoma [HPO term]
- Rectovaginal fistula [HPO term]
- Recurrent urinary tract infections [HPO term]
- Sepsis [HPO term]
- Septate vagina [HPO term]
- Tethered cord [HPO term]
- Urinary incontinence [HPO term]
- Vascular dilatation [HPO term]
- Vesicoureteral reflux [HPO term]
ORDO concept(s)
- Currarino syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Currarino syndrome [ORDO Disease]
- Currarino syndrome [PASCAL descriptor]
- Currarino syndrome [MedDRA Preferred Term]
- Currarino syndrome [DO Concept]
- Currarino triad [MeSH concept]
- Currarino triad (disorder) [SNOMED CT concept]
- currarino syndrome [Disease (Nov.)]
- currarino triad [MeSH Supplementary Concept]

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