Pfeiffer syndrome

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
PFEIFFER SYNDROME
101600C0220658MONDO:0007043
FGFR1 Causal
10945669 9586546 7719345 9002682 8841188 8434615 10394936 15523615 7874169 9150725 11807866
ClinVar, Disgenet, GWAS catalog, HPO
FGFR2 Causal
7719333 9150725 9457499 9475591 10394936 10731087 10945669 11380927 11556600 11807866
ClinGen, ClinVar, Disgenet, HPO
MDM4 Unknown — Disgenet
PFEIFFER SYNDROME TYPE 1
93258MONDO:0019659C5438812
FGFR1 Unknown
10861678 10942429 14564217 14613973 16957473 20301628 21538817 23348274 24127277 24776567 25251565 7874169
ClinGen, GWAS catalog, Orphanet, Disgenet
FGFR2 Unknown
20301628
GWAS catalog, Orphanet, Disgenet
PFEIFFER SYNDROME TYPE 2
93259C5438849MONDO:0019660
FGFR2 Unknown
20301628
CTD, Disgenet, Orphanet
PFEIFFER SYNDROME TYPE 3
93260MONDO:0019661C5438850
FGFR2 Causal
20301628
GenCC, Orphanet, Disgenet
PFEIFFER TYPE ACROCEPHALOSYNDACTYLY
MESH:C538582
FGFR1 Unknown
10394936 10945669 11807866 15523615 7719345 7874169 8434615 8841188 9002682 9150725 9586546
CTD
FGFR2 Unknown
10394936 10731087 10945669 11380927 11556600 11807866 7719333 9150725 9457499 9475591
CTD, ClinGen
All3 Causal2 Unknown3
Related Diseases Diseases that share the most curated genes with Pfeiffer syndrome.
5 View disease cluster →
Ankylosis 1 shared geneFGFR2 Related via 1 shared gene including FGFR2. Beare-stevenson cutis gyrata syndrome 1 shared geneFGFR2 Related via 1 shared gene including FGFR2. Cutis gyrata syndrome 1 shared geneFGFR2 Related via 1 shared gene including FGFR2. Osteoglophonic dysplasia 1 shared geneFGFR1 Related via 1 shared gene including FGFR1. Hartsfield-Bixler-Demyer syndrome 1 shared geneFGFR1 Related via 1 shared gene including FGFR1.