Details of Disease | DrugMAP

General Information of Disease (ID: DISI9RUN)

Disease Name	Pfeiffer syndrome type 2
Definition	Pfeiffer syndrome type 2 (PS2) is a frequent and severe type of Pfeiffer syndrome (PS), characterized by cloverleaf skull, severe associated functional disorders, and hand/foot and elbow/knee abnormalities.
Disease Hierarchy	DISA0GA5: Pfeiffer syndrome DISI9RUN: Pfeiffer syndrome type 2
Disease Identifiers	MONDO ID MONDO_0019660 UMLS CUI C5438849 MedGen ID 1761826 Orphanet ID 93259 SNOMED CT ID 1003916008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FGFR2	TTGJVQM	Supportive	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FGFR2	OTLOPACK	Supportive	Autosomal dominant	[1]
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References

1	FGFR Craniosynostosis Syndromes Overview. 1998 Oct 20 [updated 2020 Apr 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.