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	pfeiffer syndrome

Disease ID	699
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
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:2) C0011847 \| diabetes \| 1 C0004153 \| atherosclerosis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 2260 \| FGFR1 \| GHR;UNIPROT 2263 \| FGFR2 \| CLINVAR;GHR;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 2263 \| FGFR2 \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:14) 1280 \| COL2A1 \| 1.208 \| DISEASES 2258 \| FGF13 \| 2.53 \| DISEASES 2253 \| FGF8 \| 2.627 \| DISEASES 2254 \| FGF9 \| 2.084 \| DISEASES 2260 \| FGFR1 \| 5.99 \| DISEASES 2263 \| FGFR2 \| 7.182 \| DISEASES 2261 \| FGFR3 \| 4.942 \| DISEASES 2317 \| FLNB \| 2.065 \| DISEASES 4487 \| MSX1 \| 1.745 \| DISEASES 4534 \| MTM1 \| 1.665 \| DISEASES 112476 \| PRRT2 \| 1.685 \| DISEASES 51715 \| RAB23 \| 2.599 \| DISEASES 860 \| RUNX2 \| 1.659 \| DISEASES 7441 \| VPREB1 \| 2.003 \| DISEASES
Locus	(Waiting for update.)

Disease ID	699
Disease	pfeiffer syndrome
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:22) HP:0000262 \| Turricephaly HP:0000470 \| Short neck HP:0004322 \| Short stature HP:0000218 \| High palate HP:0000508 \| Ptosis HP:0001156 \| Brachydactyly syndrome HP:0006101 \| Finger syndactyly HP:0012368 \| Flat face HP:0000303 \| Mandibular prognathia HP:0003307 \| Hyperlordosis HP:0000316 \| Hypertelorism HP:0000194 \| Open mouth HP:0000324 \| Facial asymmetry HP:0004209 \| Clinodactyly of the 5th finger HP:0000431 \| Wide nasal bridge HP:0000322 \| Short philtrum HP:0001385 \| Hip dysplasia HP:0000348 \| High forehead HP:0005048 \| Synostosis of carpal bones HP:0011304 \| Broad thumb HP:0009773 \| Symphalangism affecting the phalanges of the hand HP:0010669 \| Cheekbone underdevelopment
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:9) HP:0005110 \| Atrial fibrillation \| 2 HP:0002308 \| Chiari malformation \| 1 HP:0011800 \| Midface, flat \| 1 HP:0000327 \| Maxillary micrognathia \| 1 HP:0007099 \| Arnold Chiari type I malformation \| 1 HP:0002621 \| Atherosclerosis \| 1 HP:0006699 \| Ectopic supraventricular rhythms \| 1 HP:0002566 \| Intestinal malrotation \| 1 HP:0001907 \| Thromboembolic disease \| 1

Disease ID	699
Disease	pfeiffer syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	(Waiting for update.)

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

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

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:9)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0012368	Flat face	MP:0012175	flat face	the appearance of a flattened surface outline or contour of a normally rounded face of an organism
HP:0000431	Wide nasal bridge	MP:0006292	abnormal nasal placode morphology	any structural anomaly in the paired ectodermal placodes that come to lie in the bottom of the olfactory pits as the pits are deepened by the growth of the surrounding medial and lateral nasal processes; the nasal placode gives rise to the olfactory epith
HP:0000218	High palate	MP:0011615	submucous cleft palate	a cleft of the palate with cardinal signs including a bifid uvula, a V-shaped notch at the back of the hard palate, and/or a translucent line in the midline of the soft palate and a short palate
HP:0000470	Short neck	MP:0012720	elongated neck	increased length of the neck
HP:0004209	Clinodactyly of the 5th finger	MP:0011665	d-loop transposition of the great arteries	complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th
HP:0010669	Hypoplasia of the zygomatic bone	MP:0011205	excessive folding of visceral yolk sac	the appearance of wrinkles or folds on the surface of the visceral yolk sac
HP:0009773	Symphalangism affecting the phalanges of the hand	MP:0010728	fusion of atlas and occipital bones	union of elements of the atlas and the bone at the lower, posterior part of the skull into one structure
HP:0006101	Finger syndactyly	MP:0000564	syndactyly	any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone
HP:0005048	Synostosis of carpal bones	MP:0012528	abnormal zone of polarizing activity morphology	any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the

Mapped by homologous gene(Total Items:22)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001385	Hip dysplasia	MP:0013293	embryonic lethality prior to tooth bud stage	death prior to the appearance of tooth buds (Mus: E12-E12.5)
HP:0000322	Short philtrum	MP:0020234	decreased basal metabolism	decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0000508	Ptosis	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000303	Mandibular prognathia	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0003307	Hyperlordosis	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0004322	Short stature	MP:3000003	abnormal Ebner's gland morphology	any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0009773	Symphalangism affecting the phalanges of the hand	MP:0014198	absent pituitary infundibular stalk	absence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland
HP:0000324	Facial asymmetry	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000316	Hypertelorism	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0001156	Brachydactyly syndrome	MP:0020157	abnormal behavioral response to alcohol	any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0000262	Turricephaly	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0006101	Finger syndactyly	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0000348	High forehead	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000194	Open mouth	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0000470	Short neck	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0012368	Flat face	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0000218	High palate	MP:0020321	increased vascular endothelial cell apoptosis	increase in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0004209	Clinodactyly of the 5th finger	MP:0020157	abnormal behavioral response to alcohol	any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior
HP:0011304	Broad thumb	MP:0020309	increased creatine kinase activity	increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0005048	Synostosis of carpal bones	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0010669	Hypoplasia of the zygomatic bone	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000431	Wide nasal bridge	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone

Disease ID	699
Disease	pfeiffer syndrome
Case	(Waiting for update.)