PedAM

Pediatric Disease Annotations & Medicines


	pfeiffer syndrome

Disease ID	358
Disease	pfeiffer syndrome
Definition	An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR1 or FGFR2 genes. It is characterized by early closure of the sutures between the skull bones, bulging and wide-set eyes, broad thumbs, big toes, and partial syndactyly in the hands and toes.
Synonym	acrocephalosyndactylies, type v acrocephalosyndactyly type v acrocephalosyndactyly type v (disorder) acrocephalosyndactyly, type v acs v acs5 craniofacial-skeletal-dermatologic dysplasia noack syndrome noack syndromes oto-onychoperoneal syndrome pfeiffer syndrome (disorder) pfeiffer syndrome - oto-onychoperoneal pfeiffer's syndrome pfeiffer-type acrocephalosyndactyly pfeiffers syndrome syndrome, noack syndrome, pfeiffer syndromes, noack type v acrocephalosyndactylies type v acrocephalosyndactyly
Orphanet	ORPHANET:710
OMIM	OMIM:101600 OMIM:605677
DOID	DOID:14705
UMLS	C0220658
SNOMED-CT	SNOMEDCT_US_2016_09_01:70410008
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) FGFR1 \| 2260 \| UNIPROT;GHR FGFR2 \| 2263 \| CLINVAR;GHR;UNIPROT ACSL5 \| 51703 \| OMIM
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 2263 \| FGFR2 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:24) 2249 \| FGF4 \| DISEASES 1947 \| EFNB1 \| DISEASES 6678 \| SPARC \| DISEASES 4488 \| MSX2 \| DISEASES 7291 \| TWIST1 \| DISEASES 6662 \| SOX9 \| DISEASES 2247 \| FGF2 \| DISEASES 2255 \| FGF10 \| DISEASES 2252 \| FGF7 \| DISEASES 1513 \| CTSK \| DISEASES 51715 \| RAB23 \| DISEASES 2253 \| FGF8 \| DISEASES 2261 \| FGFR3 \| DISEASES 112476 \| PRRT2 \| DISEASES 4534 \| MTM1 \| DISEASES 2258 \| FGF13 \| DISEASES 860 \| RUNX2 \| DISEASES 1280 \| COL2A1 \| DISEASES 2254 \| FGF9 \| DISEASES 4487 \| MSX1 \| DISEASES 7441 \| VPREB1 \| DISEASES 2260 \| FGFR1 \| DISEASES 2263 \| FGFR2 \| DISEASES 2317 \| FLNB \| DISEASES
Locus	(Waiting for update.)

Disease ID	358
Disease	pfeiffer syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:22) HP:0001385 \| Hip dysplasia HP:0000470 \| Short neck HP:0003307 \| Hyperlordosis HP:0000194 \| Open mouth HP:0000262 \| Turricephaly HP:0006101 \| Finger syndactyly HP:0004322 \| Short stature HP:0001156 \| Brachydactyly syndrome HP:0011304 \| Broad thumb HP:0000324 \| Facial asymmetry HP:0005048 \| Synostosis of carpal bones HP:0004209 \| Clinodactyly of the 5th finger HP:0000508 \| Ptosis HP:0000431 \| Wide nasal bridge HP:0000316 \| Hypertelorism HP:0000348 \| High forehead HP:0012368 \| Flat face HP:0010669 \| Cheekbone underdevelopment HP:0000322 \| Short philtrum HP:0000303 \| Mandibular prognathia HP:0000218 \| High palate HP:0009773 \| Symphalangism affecting the phalanges of the hand
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0002566 \| Intestinal malrotation \| 1 HP:0007099 \| Arnold Chiari type I malformation \| 1 HP:0011800 \| Midface, flat \| 1 HP:0000327 \| Maxillary micrognathia \| 1 HP:0002308 \| Chiari malformation \| 1

Disease ID	358
Disease	pfeiffer syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:22)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121909627	10942429	2260	FGFR1	umls:C0220658	BeFree	These studies provide direct genetic evidence that the Pro252Arg mutation in FGFR1 causes human Pfeiffer syndrome and uncovers a molecular mechanism in which Fgf/Fgfr1 signals regulate intramembraneous bone formation by modulating Cbfa1 expression.	0.20434307	2000	FGFR1	8	38424690	G	C
rs121909627	10861678	2260	FGFR1	umls:C0220658	BeFree	Molecular analysis of her fibroblast growth factor receptor 1 gene (FGFR1) identified a heterozygous P252R missense mutation, previously only reported with FGFR1-Pfeiffer syndrome like manifestations.	0.20434307	2000	FGFR1	8	38424690	G	C
rs121909627	25251565	2260	FGFR1	umls:C0220658	BeFree	Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation.	0.20434307	2014	FGFR1	8	38424690	G	C
rs121909627	11596961	2261	FGFR3	umls:C0220658	BeFree	In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGFR2, and FGFR3 is investigated in Apert syndrome (P253R mutation)- and Pfeiffer syndrome (C278F mutation)-affected fetal cranial tissue and is contrasted with healthy human control tissues.	0.001085767	2001	FGFR1	8	38424690	G	C
rs121909627	11596961	2260	FGFR1	umls:C0220658	BeFree	In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGFR2, and FGFR3 is investigated in Apert syndrome (P253R mutation)- and Pfeiffer syndrome (C278F mutation)-affected fetal cranial tissue and is contrasted with healthy human control tissues.	0.20434307	2001	FGFR1	8	38424690	G	C
rs121909627	14564217	2260	FGFR1	umls:C0220658	BeFree	We report four new affected families showing an FGFR1 P252R mutation and emphasize the characteristic malformations of the feet in this form of Pfeiffer syndrome.	0.20434307	2003	FGFR1	8	38424690	G	C
rs121918488	10329600	2263	FGFR2	umls:C0220658	BeFree	We analyzed cell proliferation and differentiation in osteoblasts obtained from patients with three genetically and clinically distinct craniosynostoses: Pfeiffer syndrome carrying the FGFR2 C342R substitution, Apert syndrome with FGFR2 P253R change, and a nonsyndromic craniosynostosis without FGFR canonic mutations, as compared with control osteoblasts.	0.331867498	1999	FGFR2	10	121517379	A	T,G
rs121918495	9780920	2263	FGFR2	umls:C0220658	BeFree	Gene analysis of these patients showed a T341P mutation in the FGFR2 gene in the patient with Pfeiffer syndrome, and a G380R mutation in the FGFR3 gene in the patient with achondroplasia.	0.331867498	1998	FGFR2	10	121517382	T	G
rs121918497	19066959	2263	FGFR2	umls:C0220658	BeFree	Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.	0.331867498	2009	FGFR2	10	121520052	T	G
rs121918499	24036790	2263	FGFR2	umls:C0220658	BeFree	However, her Trp290Cys FGFR2 mutation is reported to be associated with PS type II that includes kleeblatschädel (or cloverleaf) skull anomalies as a cardinal feature.	0.331867498	2014	FGFR2	10	121520048	C	G,A
rs121918499	9150725	2263	FGFR2	umls:C0220658	BeFree	Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome.	0.331867498	1997	FGFR2	10	121520048	C	G,A
rs121918499	18618990	2263	FGFR2	umls:C0220658	BeFree	Craniosynostosis and congenital tracheal anomalies in an infant with Pfeiffer syndrome carrying the W290C FGFR2 mutation.	0.331867498	2008	FGFR2	10	121520048	C	G,A
rs121918499	NA	2263	FGFR2	umls:C0220658	CLINVAR	NA	0.331867498	NA	FGFR2	10	121520048	C	G,A
rs121918502	9714439	2263	FGFR2	umls:C0220658	BeFree	Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type III.	0.331867498	1998	FGFR2	10	121517351	G	C
rs28931614	9780920	2263	FGFR2	umls:C0220658	BeFree	Gene analysis of these patients showed a T341P mutation in the FGFR2 gene in the patient with Pfeiffer syndrome, and a G380R mutation in the FGFR3 gene in the patient with achondroplasia.	0.331867498	1998	FGFR3	4	1804392	G	A,C
rs4647924	14613973	2263	FGFR2	umls:C0220658	BeFree	However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke syndrome Pro250Arg FGFR3c mutant bound appreciably to FGF7 or FGF10.	0.331867498	2004	FGFR3	4	1801844	C	G
rs4647924	14613973	2261	FGFR3	umls:C0220658	BeFree	However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke syndrome Pro250Arg FGFR3c mutant bound appreciably to FGF7 or FGF10.	0.001085767	2004	FGFR3	4	1801844	C	G
rs77543610	14613973	2263	FGFR2	umls:C0220658	BeFree	However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke syndrome Pro250Arg FGFR3c mutant bound appreciably to FGF7 or FGF10.	0.331867498	2004	FGFR2	10	121520160	G	C
rs77543610	14613973	2261	FGFR3	umls:C0220658	BeFree	However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke syndrome Pro250Arg FGFR3c mutant bound appreciably to FGF7 or FGF10.	0.001085767	2004	FGFR2	10	121520160	G	C
rs77543610	10329600	2263	FGFR2	umls:C0220658	BeFree	We analyzed cell proliferation and differentiation in osteoblasts obtained from patients with three genetically and clinically distinct craniosynostoses: Pfeiffer syndrome carrying the FGFR2 C342R substitution, Apert syndrome with FGFR2 P253R change, and a nonsyndromic craniosynostosis without FGFR canonic mutations, as compared with control osteoblasts.	0.331867498	1999	FGFR2	10	121520160	G	C
rs77543610	11596961	2260	FGFR1	umls:C0220658	BeFree	In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGFR2, and FGFR3 is investigated in Apert syndrome (P253R mutation)- and Pfeiffer syndrome (C278F mutation)-affected fetal cranial tissue and is contrasted with healthy human control tissues.	0.20434307	2001	FGFR2	10	121520160	G	C
rs77543610	11596961	2261	FGFR3	umls:C0220658	BeFree	In this paper the expression of FGFR1, the IgIIIa/c and IgIIIa/b isoforms of FGFR2, and FGFR3 is investigated in Apert syndrome (P253R mutation)- and Pfeiffer syndrome (C278F mutation)-affected fetal cranial tissue and is contrasted with healthy human control tissues.	0.001085767	2001	FGFR2	10	121520160	G	C

GWASdb Annotation(Total Genotypes:7)
Chr	Pos	SNP_Id	RefGene	EnsemblGene	ENCODE_Factor	ENCODE_TFBS	Chromosome_interaction	GTEx_eQTL	SNP_TFBS_affinity_GWAS3D	SNP_miRNA_target_affinity_PolymiRTS	SNP_splicing_effect_Skippy	SNP_splicing_effect_MutPred_Splice	SNP_ns_protein_effect_dbNSFP	SNP_syn_effect_Silva	SNP_phosphorylation_effect_PhosSNP	PhastCons_score	PhyloP_score	GERP++_RS	Segway_state	Ancestral_allele	ESP_AF	ESP_AFR	ESP_AFR	ESP_EUR	TG_ASN	TG_AMR	TG_AFR	TG_EUR	Type	Consequence	bStatistic	EncH3K27Ac	EncH3K4Me1	EncH3K4Me3	EncNucleo	OMIM	Clinvar
10	114148689	rs12255316	NM_203379,ACSL5	NM_203380,ACSL5	NM_016234,ACSL5	ENST00000354655,ENSG00000197142	ENST00000479936,ENSG00000197142	ENST00000393081,ENSG00000197142	ENST00000369410,ENSG00000197142	ENST00000433418,ENSG00000197142	ENST00000356116,ENSG00000197142	ENST00000354273,ENSG00000197142	CHMM	TFP.HNF4A	NA	chr10,114140001,114150000,chr10,114010001,114020000,28,Hi-C	chr10,114140001,114150000,chr10,114170001,114180000,5,Hi-C	NA	NA	NA	NA	NA	NA	NA	NA	0.001	-0.204	-0.948	H3K9me1	C	NA	NA	NA	NA	NA	NA	NA
10	114150782	rs7904386	NM_203379,ACSL5	NM_203380,ACSL5	NM_016234,ACSL5	ENST00000354655,ENSG00000197142	ENST00000479936,ENSG00000197142	ENST00000393081,ENSG00000197142	ENST00000369410,ENSG00000197142	ENST00000433418,ENSG00000197142	ENST00000356116,ENSG00000197142	ENST00000354273,ENSG00000197142	NA	NA	chr10,114150001,114160000,chr16,32370001,32380000,4,Hi-C	chr10,114150001,114160000,chr18,19370001,19380000,6,Hi-C	NA	LM157,23.5125	LM202,1.4602	FOXC1,6.8945	GATA3,1.3097	SP1,1.7372	NA	NA	NA	NA	NA	NA	0.000	-2.009	-5.71	F0	T	NA	NA	NA	NA
10	114159452	rs10885343	NM_203379,ACSL5	NM_203380,ACSL5	NM_016234,ACSL5	ENST00000354655,ENSG00000197142	ENST00000479936,ENSG00000197142	ENST00000393081,ENSG00000197142	ENST00000369410,ENSG00000197142	ENST00000433418,ENSG00000197142	ENST00000356116,ENSG00000197142	ENST00000354273,ENSG00000197142	NA	NA	chr10,114150001,114160000,chr16,32370001,32380000,4,Hi-C	chr10,114150001,114160000,chr18,19370001,19380000,6,Hi-C	NA	LM3,2.1697	LM59,3.1499	LM196,13.0171	LM214,2.2175	FOXC1,1.9645	NA	NA	NA	NA	NA	NA	0.000	-2.072	-7.39	F1	G	NA	NA	NA	0.470
10	114159812	rs4351741	NM_203379,ACSL5	NM_203380,ACSL5	NM_016234,ACSL5	ENST00000354655,ENSG00000197142	ENST00000479936,ENSG00000197142	ENST00000393081,ENSG00000197142	ENST00000369410,ENSG00000197142	ENST00000433418,ENSG00000197142	ENST00000356116,ENSG00000197142	ENST00000354273,ENSG00000197142	NA	NA	chr10,114150001,114160000,chr16,32370001,32380000,4,Hi-C	chr10,114150001,114160000,chr18,19370001,19380000,6,Hi-C	NA	LM4,4.7785	LM16,1.7177	LM47,1.3849	LM154,1.4513	LM213,1.2718	NA	NA	NA	NA	NA	NA	0.000	-0.351	-1.64	F0	C	NA	NA	NA	NA
10	114164146	rs11195949	NM_203379,ACSL5	NM_203380,ACSL5	NM_016234,ACSL5	ENST00000354655,ENSG00000197142	ENST00000479936,ENSG00000197142	ENST00000393081,ENSG00000197142	ENST00000369410,ENSG00000197142	ENST00000433418,ENSG00000197142	ENST00000356116,ENSG00000197142	ENST00000354273,ENSG00000197142	NA	NA	NA	NA	Sfl1-DBD-primary,3.1388	Smp1-primary,50.8045	Ypr015c-primary,1.8994	LM70,1.6596	LM82,3.5667	NA	NA	NA	NA	NA	NA	0.637	0.146	0.32	R0	G	NA	NA	NA	NA	NA
10	114169552	rs7919710	NM_203379,ACSL5	NM_203380,ACSL5	NM_016234,ACSL5	ENST00000354655,ENSG00000197142	ENST00000393081,ENSG00000197142	ENST00000369410,ENSG00000197142	ENST00000433418,ENSG00000197142	ENST00000356116,ENSG00000197142	ENST00000354273,ENSG00000197142	ENST00000449782,ENSG00000232934	ENST00000495539,ENSG00000197142	NA	NA	NA	NA	Cbf1-primary,18.8424	Cbf1-primary,19.2217	Ceh-22,1.2881	Gsm1-FL-primary,1.4696	Mbp1-primary,1.4409	NA	NA	NA	NA	NA	NA	0.000	-0.306	-3.2	L1	G	NA	NA	NA	0.350
10	114169664	rs7904918	NM_203379,ACSL5	NM_203380,ACSL5	NM_016234,ACSL5	ENST00000354655,ENSG00000197142	ENST00000393081,ENSG00000197142	ENST00000369410,ENSG00000197142	ENST00000433418,ENSG00000197142	ENST00000356116,ENSG00000197142	ENST00000354273,ENSG00000197142	ENST00000449782,ENSG00000232934	ENST00000495539,ENSG00000197142	MCV-3	NA	NA	NA	Bapx1_2343,24.1859	Ceh-22,3.0782	Nkx2-5_3436,2.1486	Nkx2-6_3437,9.2865	Obox1_3970,1.343	NA	NA	NA	NA	NA	NA	0.003	0.016	-0.641	L1	T	NA	NA	NA	NA

GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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