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	acrocephalosyndactyly

Disease ID	200
Disease	acrocephalosyndactyly
Definition	An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR2 gene. It is characterized by early closure of the sutures between the skull bones, bulging eyes, low-set ears, fusion of the second, third, and forth fingers, and fusion of the toes.
Synonym	acrocephalosyndactylia acrocephalosyndactylies, type 1 acrocephalosyndactylies, type i acrocephalosyndactyly (apert) acrocephalosyndactyly (apert) (disorder) acrocephalosyndactyly type i acrocephalosyndactyly type i (disorder) acrocephalosyndactyly, type 1 acrocephalosyndactyly, type i acs i acs1 apert syndrome apert's syndrome apert's syndrome (disorder) syndactylic oxycephalies syndactylic oxycephaly syndrome, apert type i acrocephalosyndactylies type i acrocephalosyndactyly
Orphanet	ORPHANET:946 ORPHANET:87
OMIM	OMIM:101200 OMIM:152425
DOID	DOID:12960
UMLS	C0001193
MeSH	D000168
SNOMED-CT	SNOMEDCT_US_2016_09_01:205258009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:49) C0010278 \| craniosynostosis \| 5 C0035078 \| renal failure \| 3 C0040034 \| thrombocytopenia \| 2 C0002895 \| sickle cell disease \| 2 C0010068 \| coronary artery disease \| 2 C0022661 \| end-stage renal disease \| 2 C0040053 \| thrombus \| 2 C0022658 \| renal disease \| 2 C0011847 \| diabetes \| 2 C0019069 \| haemophilia \| 1 C0015310 \| exotropia \| 1 C0019069 \| hemophilia \| 1 C0010068 \| coronary disease \| 1 C0917996 \| cerebral aneurysm \| 1 C0398623 \| hypercoagulability \| 1 C0004096 \| asthma \| 1 C0001339 \| acute pancreatitis \| 1 C0036341 \| schizophrenia \| 1 C0004134 \| ataxia \| 1 C0036439 \| scoliosis \| 1 C0023895 \| liver disease \| 1 C1956346 \| coronary artery diseases \| 1 C0018995 \| hemochromatosis \| 1 C0022661 \| end-stage renal failure \| 1 C0010054 \| coronary atherosclerosis \| 1 C0524851 \| neurodegenerative disease \| 1 C0036472 \| scrub typhus \| 1 C0002871 \| anemia \| 1 C0242379 \| lung cancer \| 1 C0009806 \| constipation \| 1 C0022116 \| ischemia \| 1 C0010073 \| coronary spasm \| 1 C0019284 \| diaphragmatic hernia \| 1 C0524851 \| neurodegenerative diseases \| 1 C0020538 \| hypertension \| 1 C0032302 \| mycoplasma pneumonia \| 1 C0020456 \| hyperglycaemia \| 1 C0015300 \| exophthalmos \| 1 C0041471 \| typhus \| 1 C0026934 \| mycoplasma \| 1 C0018801 \| heart failure \| 1 C0039730 \| thalassemia \| 1 C0004153 \| atherosclerosis \| 1 C0851578 \| sleep disorders \| 1 C0004352 \| autism \| 1 C0024299 \| malignant lymphoma \| 1 C0009171 \| cocaine abuse \| 1 C1565489 \| renal insufficiency \| 1 C0235974 \| pancreatic cancer \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:6) 2260 \| FGFR1 \| GHR 7291 \| TWIST1 \| CTD_human;GHR 2737 \| GLI3 \| GHR 1954 \| MEGF8 \| GHR 2263 \| FGFR2 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT 51715 \| RAB23 \| GHR;UNIPROT
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:55) 95 \| ACY1 \| 1.978 \| DISEASES 3267 \| AGFG1 \| 1.014 \| DISEASES 257 \| ALX3 \| 3.092 \| DISEASES 60529 \| ALX4 \| 2.538 \| DISEASES 57492 \| ARID1B \| 4.104 \| DISEASES 632 \| BGLAP \| 1.817 \| DISEASES 51161 \| C3orf18 \| 2.641 \| DISEASES 9254 \| CACNA2D2 \| 2.065 \| DISEASES 83605 \| CCM2 \| 1.089 \| DISEASES 1280 \| COL2A1 \| 2.351 \| DISEASES 1687 \| DFNA5 \| 1.981 \| DISEASES 54845 \| ESRP1 \| 1.954 \| DISEASES 2246 \| FGF1 \| 1.312 \| DISEASES 2258 \| FGF13 \| 3.869 \| DISEASES 2253 \| FGF8 \| 2.377 \| DISEASES 2254 \| FGF9 \| 2.246 \| DISEASES 2260 \| FGFR1 \| 5.56 \| DISEASES 2263 \| FGFR2 \| 7.577 \| DISEASES 2261 \| FGFR3 \| 5.459 \| DISEASES 2317 \| FLNB \| 1.271 \| DISEASES 2737 \| GLI3 \| 6.133 \| DISEASES 2885 \| GRB2 \| 1.372 \| DISEASES 9464 \| HAND2 \| 2.682 \| DISEASES 9734 \| HDAC9 \| 2.019 \| DISEASES 3167 \| HMX2 \| 2.056 \| DISEASES 84525 \| HOPX \| 1.523 \| DISEASES 10524 \| KAT5 \| 1.195 \| DISEASES 374654 \| KIF7 \| 2.944 \| DISEASES 7867 \| MAPKAPK3 \| 2.062 \| DISEASES 4140 \| MARK3 \| 1.177 \| DISEASES 54820 \| NDE1 \| 1.668 \| DISEASES 57649 \| PHF12 \| 1.657 \| DISEASES 5358 \| PLS3 \| 1.588 \| DISEASES 5578 \| PRKCA \| 1.001 \| DISEASES 221823 \| PRPS1L1 \| 2.105 \| DISEASES 5727 \| PTCH1 \| 1.863 \| DISEASES 8643 \| PTCH2 \| 1.444 \| DISEASES 51715 \| RAB23 \| 4.732 \| DISEASES 388015 \| RTL1 \| 2.121 \| DISEASES 860 \| RUNX2 \| 2.8 \| DISEASES 6628 \| SNRPB \| 1.028 \| DISEASES 23161 \| SNX13 \| 4.102 \| DISEASES 6696 \| SPP1 \| 1.133 \| DISEASES 10011 \| SRA1 \| 1.154 \| DISEASES 161497 \| STRC \| 2.151 \| DISEASES 51684 \| SUFU \| 1.112 \| DISEASES 6899 \| TBX1 \| 1.483 \| DISEASES 6938 \| TCF12 \| 3.073 \| DISEASES 117145 \| THEM4 \| 1.498 \| DISEASES 221981 \| THSD7A \| 2.211 \| DISEASES 100038246 \| TLX1NB \| 1.765 \| DISEASES 117581 \| TWIST2 \| 1.362 \| DISEASES 7441 \| VPREB1 \| 1.209 \| DISEASES 157680 \| VPS13B \| 2.122 \| DISEASES 7481 \| WNT11 \| 1.45 \| DISEASES
Locus	(Waiting for update.)

Disease ID	200
Disease	acrocephalosyndactyly
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:13) HP:0000262 \| Turricephaly HP:0000470 \| Short neck HP:0000003 \| Multicystic kidney dysplasia HP:0001363 \| Craniosynostosis HP:0001513 \| Obesity HP:0002089 \| Pulmonary hypoplasia HP:0001539 \| Omphalocele HP:0001072 \| Thickened skin HP:0000474 \| Thickened nuchal skin fold HP:0001080 \| Biliary tract abnormality HP:0002240 \| Hepatomegaly HP:0001743 \| Abnormality of the spleen HP:0001028 \| Hemangioma
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:47) HP:0100749 \| Thoracic pain \| 19 HP:0012531 \| Pain \| 16 HP:0001363 \| Early fusion of cranial sutures \| 5 HP:0001297 \| Cerebral vascular events \| 5 HP:0000083 \| Renal insufficiency \| 4 HP:0005110 \| Atrial fibrillation \| 3 HP:0002664 \| Neoplasia \| 3 HP:0001677 \| Coronary artery disease \| 3 HP:0001873 \| Low platelet count \| 2 HP:0003774 \| End-stage renal failure \| 2 HP:0002099 \| Asthma \| 2 HP:0001159 \| Webbed fingers or toes \| 2 HP:0002170 \| Intracranial hemorrhage \| 2 HP:0030692 \| Brain tumor \| 1 HP:0000316 \| Increased distance between eye sockets \| 1 HP:0000520 \| Anterior bulging of the globe of eye \| 1 HP:0001635 \| Congestive heart failure \| 1 HP:0002781 \| Upper airway obstruction \| 1 HP:0100753 \| Schizophrenia \| 1 HP:0000718 \| Aggressive behaviour \| 1 HP:0010880 \| Increased nuchal translucency \| 1 HP:0002140 \| Ischemic stroke \| 1 HP:0004944 \| Cerebral artery aneurysm \| 1 HP:0006699 \| Ectopic supraventricular rhythms \| 1 HP:0000303 \| Increased size of lower jaw \| 1 HP:0100724 \| Hypercoagulability \| 1 HP:0001658 \| Myocardial infarction \| 1 HP:0000822 \| Hypertension \| 1 HP:0001903 \| Anemia \| 1 HP:0002676 \| Cloverleaf skull \| 1 HP:0000577 \| Exotropia \| 1 HP:0010664 \| Fusion of the left and right thalami \| 1 HP:0002894 \| Neoplasia of the pancreas \| 1 HP:0002027 \| Abdominal pain \| 1 HP:0000674 \| Anodontia \| 1 HP:0001735 \| Acute pancreatitis \| 1 HP:0002621 \| Atherosclerosis \| 1 HP:0002019 \| Dyschezia \| 1 HP:0003073 \| Hypoalbuminaemia \| 1 HP:0001681 \| Angina pectoris \| 1 HP:0000717 \| Autism \| 1 HP:0002650 \| Scoliosis \| 1 HP:0000776 \| Diaphragmatic hernia \| 1 HP:0004929 \| Coronary artherosclerosis \| 1 HP:0002754 \| Bone infection \| 1 HP:0001251 \| Ataxia \| 1 HP:0000164 \| Abnormality of the teeth \| 1

Disease ID	200
Disease	acrocephalosyndactyly
Manually Symptom	UMLS \| Name(Total Manually Symptoms:4) C1442871 \| craniosynostosis C0029166 \| oral manifestations C0014866 \| esophageal stenosis C0008732 \| chylous ascites
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Manually Genotypes:3)
Gene	Mutation	DOI	Article Title
FGFR2	c.755C>G, p.S252W	doi:10.1038/gim.2015.129	Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing
FGFR2	c.758C>G, p.P253R	doi:10.1038/gim.2015.129	Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing
FGFR2	IVS8as-2A-G, p.A314fsX?	doi:10.1038/gim.2015.129	Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing

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

All Snps(Total Genotypes:40)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121909627	11596961	2260	FGFR1	umls:C0001193	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.	0.000814326	2001	FGFR1	8	38424690	G	C
rs121909627	11596961	2261	FGFR3	umls:C0001193	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.	0.001357209	2001	FGFR1	8	38424690	G	C
rs121918498	NA	2263	FGFR2	umls:C0001193	CLINVAR	NA	0.454657861	NA	NA	NA	NA	NA	NA
rs387907372	NA	2263	FGFR2	umls:C0001193	CLINVAR	NA	0.454657861	NA	NA	NA	NA	NA	NA
rs4647924	19755431	2263	FGFR2	umls:C0001193	BeFree	Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured.	0.454657861	2010	FGFR3	4	1801844	C	G
rs4647924	14613973	2263	FGFR2	umls:C0001193	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.	0.454657861	2004	FGFR3	4	1801844	C	G
rs4647924	19755431	7291	TWIST1	umls:C0001193	BeFree	Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured.	0.000542884	2010	FGFR3	4	1801844	C	G
rs4647924	19755431	57492	ARID1B	umls:C0001193	BeFree	Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured.	0.000271442	2010	FGFR3	4	1801844	C	G
rs77543610	11596961	2260	FGFR1	umls:C0001193	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.	0.000814326	2001	FGFR2	10	121520160	G	C
rs77543610	11596961	2261	FGFR3	umls:C0001193	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.	0.001357209	2001	FGFR2	10	121520160	G	C
rs77543610	18215098	2263	FGFR2	umls:C0001193	BeFree	Apert syndrome results almost exclusively from one of two point mutations (Ser252Trp or Pro253Arg) in fibroblast growth factor receptor 2.	0.454657861	2008	FGFR2	10	121520160	G	C
rs77543610	24578066	2263	FGFR2	umls:C0001193	BeFree	Our results confirm a strong correspondence between genotype and facial phenotype for AS and MS with severity of facial dysmorphology diminishing from Apert FGFR2(S252W) to Apert FGFR2(P253R) to MS. We show that AS facial shape variation is increased relative to CS, although CS has been shown to be caused by numerous distinct mutations within FGFRs and reduced dosage in ERF.	0.454657861	2014	FGFR2	10	121520160	G	C
rs77543610	17243131	2263	FGFR2	umls:C0001193	BeFree	The FGFR2 exon 7 sequencing showed the classical Apert syndrome c.758C > G transversion (p.Pro253Arg).	0.454657861	2008	FGFR2	10	121520160	G	C
rs77543610	18242159	2263	FGFR2	umls:C0001193	BeFree	A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis.	0.454657861	2008	FGFR2	10	121520160	G	C
rs77543610	14613973	2247	FGF2	umls:C0001193	BeFree	The crystal structure, of Pro252Arg FGFR1c in complex with FGF2, demonstrates that the enhanced ligand binding is due to an additional set of receptor-ligand hydrogen bonds, similar to those gain-of-function interactions that occur in the Apert syndrome Pro253Arg FGFR2c-FGF2 crystal structure.	0.000814326	2004	FGFR2	10	121520160	G	C
rs77543610	14613973	2258	FGF13	umls:C0001193	BeFree	The crystal structure, of Pro252Arg FGFR1c in complex with FGF2, demonstrates that the enhanced ligand binding is due to an additional set of receptor-ligand hydrogen bonds, similar to those gain-of-function interactions that occur in the Apert syndrome Pro253Arg FGFR2c-FGF2 crystal structure.	0.000814326	2004	FGFR2	10	121520160	G	C
rs77543610	14613973	2263	FGFR2	umls:C0001193	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.	0.454657861	2004	FGFR2	10	121520160	G	C
rs77543610	11277076	2263	FGFR2	umls:C0001193	BeFree	Apert syndrome is a severe craniosynostosis/syndactyly disorder usually caused by specific substitutions (Ser252Trp or Pro253Arg) in FGFR2.	0.454657861	2001	FGFR2	10	121520160	G	C
rs77543610	23915865	2263	FGFR2	umls:C0001193	BeFree	Rapid detection of de novo P253R mutation in FGFR2 using uncultured amniocytes in a pregnancy affected by polyhydramnios, Blake's pouch cyst, and Apert syndrome.	0.454657861	2013	FGFR2	10	121520160	G	C
rs77543610	NA	2263	FGFR2	umls:C0001193	CLINVAR	NA	0.454657861	NA	FGFR2	10	121520160	G	C
rs77543610	18632557	2263	FGFR2	umls:C0001193	BeFree	Two nucleotide substitutions in the human FGFR2 gene (C755G or C758G) are responsible for virtually all sporadic cases of Apert syndrome.	0.454657861	2008	FGFR2	10	121520160	G	C
rs77543610	24817968	2263	FGFR2	umls:C0001193	BeFree	Most interestingly a case of early-onset papillary carcinoma of the bladder showing a FGFR2 p.Pro253Arg mutation in exon 7 in a patient with Apert Syndrome was reported recently.	0.454657861	2014	FGFR2	10	121520160	G	C
rs77543610	7719344	2263	FGFR2	umls:C0001193	BeFree	We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied.	0.454657861	1995	FGFR2	10	121520160	G	C
rs77543610	23546041	2263	FGFR2	umls:C0001193	BeFree	p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients.	0.454657861	2013	FGFR2	10	121520160	G	C
rs79184941	19755431	57492	ARID1B	umls:C0001193	BeFree	Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured.	0.000271442	2010	FGFR2	10	121520163	G	C,A
rs79184941	24489893	2263	FGFR2	umls:C0001193	BeFree	A Ser252Trp mutation in fibroblast growth factor receptor 2 (FGFR2) mimicking human Apert syndrome reveals an essential role for FGF signaling in the regulation of endochondral bone formation.	0.454657861	2013	FGFR2	10	121520163	G	C,A
rs79184941	24578066	2263	FGFR2	umls:C0001193	BeFree	Our results confirm a strong correspondence between genotype and facial phenotype for AS and MS with severity of facial dysmorphology diminishing from Apert FGFR2(S252W) to Apert FGFR2(P253R) to MS. We show that AS facial shape variation is increased relative to CS, although CS has been shown to be caused by numerous distinct mutations within FGFRs and reduced dosage in ERF.	0.454657861	2014	FGFR2	10	121520163	G	C,A
rs79184941	19755431	2263	FGFR2	umls:C0001193	BeFree	Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured.	0.454657861	2010	FGFR2	10	121520163	G	C,A
rs79184941	NA	2263	FGFR2	umls:C0001193	CLINVAR	NA	0.454657861	NA	FGFR2	10	121520163	G	C,A
rs79184941	18215098	2263	FGFR2	umls:C0001193	BeFree	Apert syndrome results almost exclusively from one of two point mutations (Ser252Trp or Pro253Arg) in fibroblast growth factor receptor 2.	0.454657861	2008	FGFR2	10	121520163	G	C,A
rs79184941	7719344	2263	FGFR2	umls:C0001193	BeFree	We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied.	0.454657861	1995	FGFR2	10	121520163	G	C,A
rs79184941	16440883	2263	FGFR2	umls:C0001193	BeFree	Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene.	0.454657861	2005	FGFR2	10	121520163	G	C,A
rs79184941	11277076	2263	FGFR2	umls:C0001193	BeFree	Apert syndrome is a severe craniosynostosis/syndactyly disorder usually caused by specific substitutions (Ser252Trp or Pro253Arg) in FGFR2.	0.454657861	2001	FGFR2	10	121520163	G	C,A
rs79184941	23495007	2263	FGFR2	umls:C0001193	BeFree	The Fgfr2(S252W/+) mutation in mice retards mandible formation and reduces bone mass as in human Apert syndrome.	0.454657861	2012	FGFR2	10	121520163	G	C,A
rs79184941	19755431	7291	TWIST1	umls:C0001193	BeFree	Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured.	0.000542884	2010	FGFR2	10	121520163	G	C,A
rs79184941	23546041	2263	FGFR2	umls:C0001193	BeFree	p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients.	0.454657861	2013	FGFR2	10	121520163	G	C,A
rs79184941	18632557	2263	FGFR2	umls:C0001193	BeFree	Two nucleotide substitutions in the human FGFR2 gene (C755G or C758G) are responsible for virtually all sporadic cases of Apert syndrome.	0.454657861	2008	FGFR2	10	121520163	G	C,A
rs79184941	15840724	2263	FGFR2	umls:C0001193	BeFree	C>G transversions at position 755 of FGF receptor 2 (FGFR2) cause Apert syndrome; this mutation, encoding the gain-of-function substitution Ser252Trp, occurs with a birth rate elevated 200- to 800-fold above background and originates exclusively from the unaffected father.	0.454657861	2005	FGFR2	10	121520163	G	C,A
rs79184941	15310757	2263	FGFR2	umls:C0001193	BeFree	A soluble form of fibroblast growth factor receptor 2 (FGFR2) with S252W mutation acts as an efficient inhibitor for the enhanced osteoblastic differentiation caused by FGFR2 activation in Apert syndrome.	0.454657861	2004	FGFR2	10	121520163	G	C,A
rs79184941	15975938	2263	FGFR2	umls:C0001193	BeFree	Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse.	0.454657861	2005	FGFR2	10	121520163	G	C,A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

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

Mapped by lexical matching(Total Items:7)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001072	Thickened skin	MP:0009932	skin fibrosis	invasion of fibrous connective tissue into the skin, often resulting from inflammation or injury
HP:0001743	Abnormality of the spleen	MP:0004485	increased response of heart to induced stress	increase in severity of the physiological response of the heart to induced stress such as cardiac hypertrophy due to mechanical pressure overload from aortic banding
HP:0001080	Biliary tract abnormality	MP:0010352	gastrointestinal tract polyps	abnormal tissue masses that protrude into the lumen of the gastrointestinal tract and are tethered to the wall of the gastrointestinal tract
HP:0000470	Short neck	MP:0012720	elongated neck	increased length of the neck
HP:0000474	Thickened nuchal skin fold	MP:0010678	abnormal skin adnexa morphology	any structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails
HP:0002089	Pulmonary hypoplasia	MP:0013193	sebaceous gland hypoplasia	underdevelopment and decreased size of the sebum secreting glands of the hair shaft, usually due to a decrease in the number of cells
HP:0000003	Multicystic kidney dysplasia	MP:0011376	abnormal kidney corticomedullary boundary morphology	any structural anomaly of the region demarcating the renal medulla from the surrounding cortex; end-stage renal failure may be associated with loss of the normal corticomedullary boundary

Mapped by homologous gene(Total Items:13)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000003	Multicystic kidney dysplasia	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001363	Craniosynostosis	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001080	Biliary tract abnormality	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0001513	Obesity	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0001028	Hemangioma	MP:0014171	increased fatty acid oxidation	increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr
HP:0001743	Abnormality of the spleen	MP:0013696	increased granulocyte monocyte progenitor cell number	increase in the number of a hematopoietic progenitor cell that is committed to the granulocyte and monocyte lineages; these cells are CD123-positive, and do not express Gata1 or Gata2 but do express C/EBPa, and Pu.1
HP:0000474	Thickened nuchal skin fold	MP:0020039	increased bone ossification	increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0000470	Short neck	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0001539	Omphalocele	MP:0020169	increased thyroid gland weight	higher than average weight of the thyroid gland
HP:0002089	Pulmonary hypoplasia	MP:0020214	susceptible to malignant hyperthermia	increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine
HP:0001072	Thickened skin	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0002240	Hepatomegaly	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000262	Turricephaly	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone

Disease ID	200
Disease	acrocephalosyndactyly
Case	(Waiting for update.)