PedAM

Pediatric Disease Annotations & Medicines


	crouzon syndrome

Disease ID	625
Disease	crouzon syndrome
Definition	Autosomal dominant CRANIOSYNOSTOSIS with shallow ORBITS; EXOPHTHALMOS; and maxillary hypoplasia.
Synonym	acrocephalosyndactyly, type ii apert-crouzon syndrome craniofacial dysarthroses craniofacial dysarthrosis craniofacial dysostoses craniofacial dysostosis craniofacial dysostosis [disease/finding] craniofacial dysostosis syndrome craniofacial dysostosis syndromes crouzon disease crouzon syndrome (disorder) crouzon's disease crouzon's syndrome crouzons disease crouzons syndrome dysarthroses, craniofacial dysarthrosis, craniofacial dysostoses, craniofacial dysostosis, craniofacial syndrome craniofacial dysostosis syndrome crouzon's trigorhinophalangeal dysplasia vogt cephalosyndactyly
Orphanet	ORPHANET:207
OMIM	OMIM:123500
DOID	DOID:2339
ICD10	ICD10CM:Q75.1
UMLS	C0010273
MeSH	D003394
SNOMED-CT	SNOMEDCT_US_2016_09_01:28861008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:13) C0000889 \| acanthosis nigricans \| 12 C0010278 \| craniosynostosis \| 2 C0038379 \| strabismus \| 1 C0520679 \| obstructive sleep apnea \| 1 C0018818 \| ventricular septal defect \| 1 C0020255 \| hydrocephalus \| 1 C0010964 \| dandy-walker malformation \| 1 C0029124 \| optic nerve atrophy \| 1 C0033845 \| pseudotumor cerebri \| 1 C0037315 \| sleep apnea \| 1 C0151740 \| increased intracranial pressure \| 1 C0015310 \| exotropia \| 1 C0008373 \| cholesteatoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) FGFR2 \| 2263 \| CLINVAR;CTD_human;ORPHANET;GHR ERF \| 2077 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:48) 1634 \| DCN \| DISEASES 2249 \| FGF4 \| DISEASES 1947 \| EFNB1 \| DISEASES 7049 \| TGFBR3 \| DISEASES 10857 \| PGRMC1 \| DISEASES 4741 \| NEFM \| DISEASES 1158 \| CKM \| DISEASES 7043 \| TGFB3 \| DISEASES 4488 \| MSX2 \| DISEASES 7291 \| TWIST1 \| DISEASES 23314 \| SATB2 \| DISEASES 2247 \| FGF2 \| DISEASES 2255 \| FGF10 \| DISEASES 2252 \| FGF7 \| DISEASES 3549 \| IHH \| DISEASES 10818 \| FRS2 \| DISEASES 6199 \| RPS6KB2 \| DISEASES 2253 \| FGF8 \| DISEASES 3590 \| IL11RA \| DISEASES 633 \| BGN \| DISEASES 342184 \| FMN1 \| DISEASES 2248 \| FGF3 \| DISEASES 2246 \| FGF1 \| DISEASES 2885 \| GRB2 \| DISEASES 2261 \| FGFR3 \| DISEASES 10252 \| SPRY1 \| DISEASES 728378 \| POTEF \| DISEASES 90780 \| PYGO2 \| DISEASES 4014 \| LOR \| DISEASES 257 \| ALX3 \| DISEASES 2258 \| FGF13 \| DISEASES 860 \| RUNX2 \| DISEASES 84890 \| ADO \| DISEASES 2268 \| FGR \| DISEASES 1280 \| COL2A1 \| DISEASES 56953 \| NT5M \| DISEASES 10203 \| CALCRL \| DISEASES 7441 \| VPREB1 \| DISEASES 1123 \| CHN1 \| DISEASES 55636 \| CHD7 \| DISEASES 2260 \| FGFR1 \| DISEASES 4988 \| OPRM1 \| DISEASES 5076 \| PAX2 \| DISEASES 161497 \| STRC \| DISEASES 2263 \| FGFR2 \| DISEASES 64856 \| VWA1 \| DISEASES 2972 \| BRF1 \| DISEASES 84525 \| HOPX \| DISEASES
Locus	(Waiting for update.)

Disease ID	625
Disease	crouzon syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:15) HP:0000956 \| Keratosis nigricans \| 12 HP:0001363 \| Early fusion of cranial sutures \| 2 HP:0000238 \| Nonsyndromal hydrocephalus \| 1 HP:0000577 \| Exotropia \| 1 HP:0009797 \| Cholesteatoma \| 1 HP:0000327 \| Maxillary micrognathia \| 1 HP:0002781 \| Upper airway obstruction \| 1 HP:0002870 \| Obstructive sleep apnea \| 1 HP:0000648 \| Optic-nerve degeneration \| 1 HP:0001305 \| Dandy-Walker cyst \| 1 HP:0001629 \| Ventricular septal defects \| 1 HP:0010535 \| Sleep apnea \| 1 HP:0002516 \| Intracranial pressure elevation \| 1 HP:0000486 \| Squint eyes \| 1 HP:0000274 \| Hypoplasia of face \| 1

Disease ID	625
Disease	crouzon syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0000889 \| acanthosis nigricans \| 12 C0001883 \| airway obstruction \| 1

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

All Snps(Total Genotypes:21)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs121918487	NA	2263	FGFR2	umls:C0010273	CLINVAR	NA	0.255482118	NA	FGFR2	10	121517378	C	T
rs121918487	17105336	2263	FGFR2	umls:C0010273	BeFree	Skulls of Fgfr2(C342Y/+) mice differ from normal littermates in a comparable manner with differences between the skulls of humans with Crouzon syndrome and those of unaffected individuals.	0.255482118	2006	FGFR2	10	121517378	C	T
rs121918488	NA	2263	FGFR2	umls:C0010273	CLINVAR	NA	0.255482118	NA	FGFR2	10	121517379	A	T,G
rs121918488	25759925	2263	FGFR2	umls:C0010273	BeFree	The C342R mutation in FGFR2 causes Crouzon syndrome with elbow deformity.	0.255482118	2015	FGFR2	10	121517379	A	T,G
rs121918489	NA	2263	FGFR2	umls:C0010273	CLINVAR	NA	0.255482118	NA	FGFR2	10	121517385	A	G
rs121918490	NA	2263	FGFR2	umls:C0010273	CLINVAR	NA	0.255482118	NA	FGFR2	10	121517342	G	C
rs121918491	NA	2263	FGFR2	umls:C0010273	CLINVAR	NA	0.255482118	NA	FGFR2	10	121517371	C	T
rs121918492	NA	2263	FGFR2	umls:C0010273	CLINVAR	NA	0.255482118	NA	FGFR2	10	121517372	G	C
rs121918493	NA	2263	FGFR2	umls:C0010273	CLINVAR	NA	0.255482118	NA	FGFR2	10	121517420	T	C
rs121918494	NA	2263	FGFR2	umls:C0010273	CLINVAR	NA	0.255482118	NA	FGFR2	10	121517363	G	C
rs121918496	NA	2263	FGFR2	umls:C0010273	CLINVAR	NA	0.255482118	NA	FGFR2	10	121517377	G	C
rs121918497	11484208	2263	FGFR2	umls:C0010273	BeFree	Using the published primers for PCR, a patient with Crouzon syndrome was found to be homozygous for a mutation that results in a Q289P amino acid substitution in FGFR2.	0.255482118	2001	FGFR2	10	121520052	T	G
rs121918497	NA	2263	FGFR2	umls:C0010273	CLINVAR	NA	0.255482118	NA	FGFR2	10	121520052	T	G
rs121918500	NA	2263	FGFR2	umls:C0010273	CLINVAR	NA	0.255482118	NA	FGFR2	10	121520044	T	C
rs121918501	22872266	2263	FGFR2	umls:C0010273	BeFree	The Fgfr2 W290R mouse model of Crouzon syndrome.	0.255482118	2012	FGFR2	10	121520050	A	G,C
rs121918501	NA	2263	FGFR2	umls:C0010273	CLINVAR	NA	0.255482118	NA	FGFR2	10	121520050	A	G,C
rs121918505	25759927	2263	FGFR2	umls:C0010273	BeFree	S267P mutation in FGFR2: first report in a patient with Crouzon syndrome.	0.255482118	2015	FGFR2	10	121520119	A	G
rs121918507	NA	2263	FGFR2	umls:C0010273	CLINVAR	NA	0.255482118	NA	FGFR2	10	121498591	T	C
rs28931615	8880573	2261	FGFR3	umls:C0010273	BeFree	A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.	0.001357209	1996	FGFR3	4	1804426	C	A
rs387906676	NA	2263	FGFR2	umls:C0010273	CLINVAR	NA	0.255482118	NA	FGFR2	10	121517394	C	T,G
rs4647924	10541159	2261	FGFR3	umls:C0010273	BeFree	Two patients labeled as having Crouzon syndrome had the Pro250Arg mutation in exon 7 of FGFR3.	0.001357209	1999	FGFR3	4	1801844	C	G

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

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

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)