Details of Disease | DrugMAP

General Information of Disease (ID: DIS4HC21)

Disease Name	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Synonyms	diabetes mellitus, permanent neonatal, with cerebellar agenesis; paca; pancreatic and cerebellar agenesis
Definition	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis.
Disease Hierarchy	DISFHF9K: Neonatal diabetes mellitus DISD715V: Hereditary neurological disease DISMFQKM: Developmental anomaly of metabolic origin DISOV08L: Central nervous system malformation DIS4HC21: Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Disease Identifiers	MONDO ID MONDO_0012192 MESH ID C563796 UMLS CUI C1836780 OMIM ID 609069 MedGen ID 332288 Orphanet ID 65288

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NEUROD1	OTZQ7QJ2	Strong	Autosomal recessive	[1]
PTF1A	OT7SWA57	Definitive	Autosomal recessive	[2]
------------------------------------------------------------------------------------

References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
2	A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement. Clin Genet. 2011 Aug;80(2):196-8. doi: 10.1111/j.1399-0004.2010.01613.x.