Details of Disease | DrugMAP

General Information of Disease (ID: DISA0WVT)

Disease Name	Pfeiffer syndrome type 1
Synonyms	Pfeiffer syndrome type 1; classic Pfeiffer syndrome
Definition	Pfeiffer syndrome type 1 (PS1) is a mild to moderately severe type of Pfeiffer syndrome (PS), characterized by bicoronal craniosynostosis, variable finger and toe malformations, and in most cases, normal intellectual development.
Disease Hierarchy	DISA0GA5: Pfeiffer syndrome DISA0WVT: Pfeiffer syndrome type 1
Disease Identifiers	MONDO ID MONDO_0019659 UMLS CUI C5438812 MedGen ID 1726699 Orphanet ID 93258 SNOMED CT ID 1003877009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FGFR2	TTGJVQM	Supportive	Autosomal dominant	[1]
FGFR1	TTRLW2X	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FGFR2	OTLOPACK	Supportive	Autosomal dominant	[1]
FGFR1	OT4GLCXW	Definitive	Autosomal dominant	[2]
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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.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.