Pancreatic and cerebellar agenesis

Preferred Label : Pancreatic and cerebellar agenesis;

Symbol : PACA;

CISMeF acronym : PACA;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Diabetes mellitus, permanent neonatal, with cerebellar agenesis;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the pancreas transcription factor 1, alpha subunit gene (PTF1A, 607194.0001);

Prefixed ID : #609069;

Details

Origin ID

609069;

UMLS CUI

C1836780;

Currated CISMeF NLP mapping
- Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis [ICD-11 More detail]
- Permanent neonatal diabetes mellitus with cerebellar agenesis syndrome (disorder) [SNOMED CT concept]
- Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome [ORDO Disease]
- diabetes mellitus, permanent neonatal, with cerebellar agenesis [MeSH concept]
- diabetes mellitus, permanent neonatal, with cerebellar agenesis [MeSH Supplementary Concept]
False automatic mappings
- Non-specific autoimmune cerebellar ataxia without characteristic antibodies [ORDO Disease]
Genes related to phenotype
- Pancreas transcription factor 1, alpha subunit [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Anemia [HPO term]
- Apnea [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar agenesis [HPO term]
- Cerebellar hypoplasia [HPO term]
- Convex nasal ridge [HPO term]
- Death in infancy [HPO term]
- Diabetes mellitus [HPO term]
- Failure to thrive [HPO term]
- Hyperglycemia [HPO term]
- Hypoglycemia [HPO term]
- Hyporeflexia [HPO term]
- Joint stiffness [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Optic nerve hypoplasia [HPO term]
- Overlapping fingers [HPO term]
- Pancreatic hypoplasia [HPO term]
- Pectus carinatum [HPO term]
- Reduced subcutaneous adipose tissue [HPO term]
- Secundum atrial septal defect [HPO term]
- Seizure [HPO term]
- Short chin [HPO term]
- Triangular face [HPO term]
ORDO concept(s)
- Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome [ORDO Disease]
- diabetes mellitus, permanent neonatal, with cerebellar agenesis [MeSH Supplementary Concept]
- diabetes mellitus, permanent neonatal, with cerebellar agenesis [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients