Details of Disease

General Information of Disease (ID: DISA0GA5)

Disease Name Pfeiffer syndrome
Synonyms
Noack syndrome; Pfeiffer type acrocephalosyndactyly; acrocephalosyndactyly, type 5; craniofacial-skeletal-Dermatologic dysplasia; ACS 5; acrocephalosyndactyly type V; ACS5; type V Acrocephalosyndactyly; acrocephalosyndactylia type V; acrocephalosyndactyly type 5; Pfeiffer syndrome
Definition
Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.
Disease Hierarchy
DISKE9JR: Acrocephalopolysyndactyly
DISA0GA5: Pfeiffer syndrome
Disease Identifiers
MONDO ID
MONDO_0007043
MESH ID
D000168
UMLS CUI
C0220658
OMIM ID
101600
MedGen ID
67390
Orphanet ID
710
SNOMED CT ID
70410008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FGFR1 TTRLW2X Definitive Autosomal dominant [1]
FGFR1 TTRLW2X Definitive Altered Expression [2]
FGFR2 TTGJVQM Definitive Autosomal dominant [3]
TWIST1 TTX1MY7 Definitive Biomarker [4]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FGFR1 OT4GLCXW Definitive Autosomal dominant [1]
FGFR2 OTLOPACK Definitive Autosomal dominant [3]
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References

1 Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene. Clin Genet. 2000 Jul;58(1):81-3. doi: 10.1034/j.1399-0004.2000.580116.x.
2 Up-regulation of fibroblast growth factor receptor 1 due to prenatal tobacco exposure can lead to developmental defects in new born.J Matern Fetal Neonatal Med. 2020 May;33(10):1732-1743. doi: 10.1080/14767058.2018.1529164. Epub 2018 Nov 14.
3 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.
4 Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. Nat Genet. 2013 Mar;45(3):304-7. doi: 10.1038/ng.2531. Epub 2013 Jan 27.