Details of Disease | DrugMAP

General Information of Disease (ID: DISSE2Y8)

Disease Name	Pancreatic insufficiency-anemia-hyperostosis syndrome
Synonyms	exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis; pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome
Definition	This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.
Disease Hierarchy	DIS6FAT6: Congenital dyserythropoietic anemia DIS7WMGL: Pancreatic exocrine dysfunction DISK7N3G: Cytochrome-c oxidase deficiency disease DISK7IP8: Mitochondrial oxidative phosphorylation disorder DIS5Z8U6: Skeletal dysplasia DISSE2Y8: Pancreatic insufficiency-anemia-hyperostosis syndrome
Disease Identifiers	MONDO ID MONDO_0012992 MESH ID C567195 UMLS CUI C2675184 OMIM ID 612714 MedGen ID 436369 Orphanet ID 199337 SNOMED CT ID 722207000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
COX4I2	OTB98B21	Supportive	Autosomal recessive	[1]
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References

1	Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.