Crouzon Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CS MCID: CRZ001 MIFTS: 70	Crouzon Syndrome (CS) Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Rare diseases, Smell/Taste diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Crouzon Syndrome

MalaCards integrated aliases for Crouzon Syndrome:

Name: Crouzon Syndrome ⁵⁸ ³⁹ ¹² ⁷⁷ ⁵⁴ ²⁶ ⁷⁶ ³⁸ ³⁰ ³⁰ ¹³ ⁵⁶ ⁶ ¹⁵ ⁴¹

Crouzon Craniofacial Dysostosis ⁵⁸ ⁵⁴ ²⁶ ⁶⁰ ⁷⁶

Craniofacial Dysostosis ¹² ⁷⁷ ²⁶ ⁴⁵

Cfd1 ⁵⁸ ⁵⁴ ⁷⁶

Craniofacial Dysostosis Type 1 ⁵⁴ ⁷⁴

Crouzon's Disease ¹² ²⁶

Crouzon Disease ⁵⁴ ⁶⁰

Craniofacial Dysostosis, Type I; Cfd1 ⁵⁸

Craniofacial Dysostosis, Type 1; Cfd1 ²⁶

Craniofacial Dysostosis Syndrome ²⁶

Craniofacial Dysostosis, Type I ⁵⁸

Craniofacial Dysostosis Type I ⁷⁶

Craniofacial Dysarthrosis ²⁶

Crouzons Disease ²⁶

Cs ⁷⁶

Characteristics:

Orphanet epidemiological data:

⁶⁰

crouzon disease
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

⁵⁸

Inheritance:
autosomal dominant

Miscellaneous:
associated with increased paternal age

HPO:

³³

crouzon syndrome:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Bone diseases Smell/Taste diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴ ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other congenital malformations of skull and face bones

Craniofacial dysostosis

Orphanet: ⁶⁰

Rare eye diseases

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:2339

OMIM ⁵⁸ 123500

KEGG ³⁸ H01754

MeSH ⁴⁵ D003394

NCIt ⁵¹ C84653

SNOMED-CT ⁶⁹ 28861008

ICD10 ³⁴ Q75.1

ICD10 via Orphanet ³⁵ Q75.1

Orphanet ⁶⁰ ORPHA207

MedGen ⁴³ C0010273 C2931196

SNOMED-CT via HPO ⁷⁰ 109417006 109418001 109504005 more

UMLS ⁷⁴ C0010273 C2931196

Sources

Summaries for Crouzon Syndrome

NIH Rare Diseases : ⁵⁴ Crouzon syndrome is a disorder characterized by early fusion of certain skull bones (craniosynostosis). This prevents normal growth of the skull, which can affect the shape of the head and face. Signs and symptoms of Crouzon syndrome may include wide-set, bulging eyes; strabismus (misalignment of the eyes); a small, "beak-shaped" nose; and an underdeveloped upper jaw. Other features may include dental problems, hearing loss, and/or cleft lip and palate. The severity of signs and symptoms can vary among affected people, even within a family. Intelligence is usually normal, but intellectual disability may be present. Crouzon syndrome is caused by changes (mutations) in the FGFR2 gene and is inherited in an autosomal dominant manner. Treatment may involve surgeries to prevent complications, improve function, and aid in healthy psychosocial development.

MalaCards based summary : Crouzon Syndrome, also known as crouzon craniofacial dysostosis, is related to pfeiffer syndrome and jackson-weiss syndrome, and has symptoms including seizures and frequent headaches. An important gene associated with Crouzon Syndrome is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are ERK Signaling and GPCR Pathway. The drugs Cisplatin and Gemcitabine have been mentioned in the context of this disorder. Affiliated tissues include Bone, bone and eye, and related phenotypes are frontal bossing and abnormal facial shape

Disease Ontology : ¹² A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene.

Genetics Home Reference : ²⁶ Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.

OMIM : ⁵⁸ Crouzon syndrome is an autosomal dominant disorder characterized by craniosynostosis causing secondary alterations of the facial bones and facial structure. Common features include hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism (Reardon et al., 1994; Glaser et al., 2000). (123500)

UniProtKB/Swiss-Prot : ⁷⁶ Crouzon syndrome: An autosomal dominant syndrome characterized by craniosynostosis, hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism.

Wikipedia : ⁷⁷ Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome.... more...

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Related Diseases for Crouzon Syndrome

Diseases related to Crouzon Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 246)

#	Related Disease	Score	Top Affiliating Genes
1	pfeiffer syndrome	30.6	FGFR1 FGFR2 FGFR3
2	jackson-weiss syndrome	30.6	FGFR1 FGFR2 FGFR3
3	apert syndrome	30.4	FGF2 FGFR1 FGFR2 FGFR3
4	achondroplasia	30.3	FGFR1 FGFR2 FGFR3
5	plagiocephaly	30.2	FGFR1 FGFR2 FGFR3
6	exophthalmos	30.1	FGFR2 FGFR3 TGFB1
7	synostosis	30.1	FGFR1 FGFR2 FGFR3 MSX2
8	saethre-chotzen syndrome	29.8	FGFR1 FGFR2 FGFR3 MSX2
9	thanatophoric dysplasia, type i	29.7	FGF13 FGFR1 FGFR2 FGFR3
10	craniosynostosis	29.3	ERF FGF2 FGFR1 FGFR2 FGFR3 IL11RA
11	crouzon syndrome with acanthosis nigricans	12.8
12	craniofacial dysostosis with diaphyseal hyperplasia	12.5
13	craniofacial dysostosis arthrogryposis progeroid appearence	12.2
14	fontaine progeroid syndrome	12.2
15	cockayne syndrome	11.9
16	xeroderma pigmentosum, complementation group g	11.8
17	xeroderma pigmentosum, complementation group d	11.7
18	xeroderma pigmentosum, complementation group f	11.7
19	xeroderma pigmentosum, complementation group b	11.7
20	primary pigmented nodular adrenocortical disease	11.5
21	cowden syndrome	11.5
22	craniofacial dyssynostosis	11.5
23	acth-independent macronodular adrenal hyperplasia	11.5
24	kleeblattschaedel	11.5
25	cardiogenic shock	11.4
26	cowden syndrome 1	11.4
27	cockayne syndrome a	11.3
28	diabetes mellitus, noninsulin-dependent	11.3
29	mucopolysaccharidosis, type vii	11.3
30	mitochondrial metabolism disease	11.3
31	cerebrooculofacioskeletal syndrome 1	11.2
32	body mass index quantitative trait locus 11	11.2
33	anemia, sideroblastic, and spinocerebellar ataxia	11.2
34	carnitine palmitoyltransferase ii deficiency, infantile	11.2
35	cerebral creatine deficiency syndrome 2	11.2
36	endemic typhus	11.2
37	cerebral creatine deficiency syndrome	11.2
38	bartonellosis	11.2
39	critical illness polyneuropathy	11.2
40	leber hereditary optic neuropathy	11.2
41	carpenter syndrome 1	11.2
42	potocki-shaffer syndrome	11.1
43	retinoblastoma	11.0
44	acanthosis nigricans	10.5
45	acrofrontofacionasal dysostosis 1	10.4
46	oculomaxillofacial dysostosis	10.4
47	hemifacial hyperplasia	10.4	FGFR2 FGFR3
48	luteoma	10.3	FGFR2 FGFR3
49	beare-stevenson cutis gyrata syndrome	10.3	FGFR2 FGFR3
50	rheumatoid arthritis	10.3

Graphical network of the top 20 diseases related to Crouzon Syndrome:

Sources

Symptoms & Phenotypes for Crouzon Syndrome

Human phenotypes related to Crouzon Syndrome:

⁶⁰ ³³ (show all 49)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	frontal bossing ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0002007
2	abnormal facial shape ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0001999
3	multiple suture craniosynostosis ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0011324
4	high forehead ⁶⁰ ³³	hallmark (90%)	Very frequent (99-80%)	HP:0000348
5	hypertelorism ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000316
6	ptosis ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000508
7	increased intracranial pressure ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002516
8	brachycephaly ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000248
9	strabismus ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000486
10	cerebellar hypoplasia ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0001321
11	arnold-chiari malformation ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0002308
12	hypoplasia of the maxilla ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000327
13	conductive hearing impairment ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000405
14	turricephaly ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000262
15	conjunctivitis ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000509
16	midface retrusion ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0011800
17	proptosis ⁶⁰ ³³	frequent (33%)	Frequent (79-30%)	HP:0000520
18	hydrocephalus ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000238
19	respiratory insufficiency ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002093
20	narrow palate ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000189
21	optic atrophy ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000648
22	acanthosis nigricans ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000956
23	melanocytic nevus ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000995
24	hypopigmented skin patches ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0001053
25	headache ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0002315
26	choanal atresia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000453
27	amblyopia ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000646
28	convex nasal ridge ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000444
29	iris coloboma ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0000612
30	abnormal sacrum morphology ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0005107
31	narrow internal auditory canal ⁶⁰ ³³	occasional (7.5%)	Occasional (29-5%)	HP:0011386
32	intellectual disability ³³	occasional (7.5%)		HP:0001249
33	seizures ³³			HP:0001250
34	sleep apnea ³³			HP:0010535
35	mandibular prognathia ³³			HP:0000303
36	hearing impairment ⁶⁰		Occasional (29-5%)
37	visual impairment ³³			HP:0000505
38	abnormality of the skull ⁶⁰		Very frequent (99-80%)
39	keratitis ³³			HP:0000491
40	coronal craniosynostosis ³³			HP:0004440
41	dental crowding ³³			HP:0000678
42	atresia of the external auditory canal ³³			HP:0000413
43	abnormality of the cervical spine ³³			HP:0003319
44	craniofacial dysostosis ³³			HP:0004439
45	sagittal craniosynostosis ³³			HP:0004442
46	shallow orbits ³³			HP:0000586
47	dysgerminoma ³³			HP:0100621
48	lambdoidal craniosynostosis ³³			HP:0004443
49	abnormality of the nasopharynx ³³			HP:0001739

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Eyes:
hypertelorism
optic atrophy
strabismus
proptosis
shallow orbits
more

Neurologic Central Nervous System:
seizures
frequent headaches
mental retardation, occasional

Head And Neck Head:
brachycephaly
craniosynostosis

Head And Neck Ears:
conductive hearing loss
atretic external auditory canals

Head And Neck Mouth:
lateral palatal swellings

Skeletal Skull:
craniosynostosis (coronal, sagittal, lambdoid sutures)
calcification of stylohyoid ligament

Head And Neck Face:
frontal bossing
maxillary hypoplasia
mandibular prognathism

Respiratory Nasopharynx:
sleep apnea

Head And Neck Teeth:
dental crowding

Head And Neck Nose:
parrot-like nose

Genitourinary Internal Genitalia Female:
dysgerminoma (in 1 patient)

Skeletal Spine:
cervical spine abnormalities

Clinical features from OMIM:

123500

UMLS symptoms related to Crouzon Syndrome:

seizures, frequent headaches

MGI Mouse Phenotypes related to Crouzon Syndrome:

⁴⁷ (show all 19)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.35	ALX3 DCN ERF FGF13 FGF2 FGFR1
2	behavior/neurological	MP:0005386	10.28	ALX3 DCN FGF13 FGF2 FGFR1 FGFR2
3	growth/size/body region	MP:0005378	10.25	ALX3 BMP6 DCN ERF FGFR1 FGFR2
4	mortality/aging	MP:0010768	10.22	ALX3 DCN ERF FGF13 FGF2 FGFR1
5	craniofacial	MP:0005382	10.21	ALX3 DCN ERF FGFR1 FGFR2 FGFR3
6	cardiovascular system	MP:0005385	10.18	ERF FGF2 FGFR1 FGFR2 MSX2 RPS6KB2
7	digestive/alimentary	MP:0005381	10.15	ALX3 DCN FGFR1 FGFR2 FGFR3 MSX2
8	endocrine/exocrine gland	MP:0005379	10.13	ALX3 DCN FGFR1 FGFR2 MSX2 RPS6KB2
9	hematopoietic system	MP:0005397	10.13	DCN ERF FGF2 FGFR1 FGFR2 FGFR3
10	embryo	MP:0005380	10.08	ALX3 ERF FGFR1 FGFR2 MSX2 TCOF1
11	muscle	MP:0005369	10.02	DCN FGF2 FGFR1 FGFR2 MSX2 RPS6KB2
12	integument	MP:0010771	10	DCN FGFR1 FGFR2 FGFR3 MSX2 TGFB1
13	nervous system	MP:0003631	10	ALX3 ERF FGF13 FGF2 FGFR1 FGFR2
14	hearing/vestibular/ear	MP:0005377	9.97	FGF2 FGFR1 FGFR2 FGFR3 MSX2 TCOF1
15	limbs/digits/tail	MP:0005371	9.91	ALX3 FGFR1 FGFR2 FGFR3 MSX2 TGFBR3
16	reproductive system	MP:0005389	9.85	ALX3 BMP6 DCN FGF2 FGFR1 FGFR2
17	neoplasm	MP:0002006	9.8	DCN FGF2 FGFR2 FGFR3 RPS6KB2 TGFB1
18	skeleton	MP:0005390	9.77	ALX3 BMP6 DCN ERF FGF2 FGFR1
19	vision/eye	MP:0005391	9.28	ALX3 DCN FGF2 FGFR1 FGFR2 FGFR3

Sources

Drugs & Therapeutics for Crouzon Syndrome

Drugs for Crouzon Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 38)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Cisplatin

Approved

Phase 3

15663-27-1

2767 441203 84093

Synonyms:

(SP-4-1)-diamminedichloridoplatinum

(SP-4-1)-diamminedichloroplatinum

(SP-4-2)-diamminedichloridoplatinum

(SP-4-2)-diamminedichloroplatinum

Abiplatin

Biocisplatinum

Briplatin

CACP

Carboquone

CDDP

CHEBI:35852

CID441203

Cis Pt II

cis-[PtCl2(NH3)2]

cis-DDP

Cis-DDP

Cis-Diaminedichloroplatinum

cis-diamminedichloridoplatinum(II)

cis-Diamminedichloroplatinum

Cis-Diamminedichloroplatinum

cis-diamminedichloroplatinum(II)

cis-Dichlorodiammineplatinum(II)

Cismaplat

Cisplatin

Cisplatine

cisplatino

Cisplatino

Cisplatinum

Cisplatyl

Citoplationo

CPD0-1392

CPDC

CPDD

DB00515

DDP

DDPT

Diamminedichloroplatinum

EU-0100918

Lederplatin

nchembio773-comp1

Neoplatin

Peyrone's chloride

Peyrone's salt

Plastin

Platamine

Platiblastin

Platidiam

Platinex

Platinol

Platinol-AQ

Platinoxan

Platinum Ammine Chloride

Platinum Ammonium Chloride

Platinum Diamine Dichloride

Randa

trans-DDP

Trans-DDP

Trans-Diaminedichloroplatinum

trans-diamminedichloridoplatinum(II)

Trans-Diamminedichloroplatinum

Trans-Dichlorodiammine Platinum

Trans-Platinumdiammine Dichloride

Gemcitabine

Approved

Phase 3

95058-81-4

60750

Synonyms:

103882-84-4

122111-03-9

2',2'-DFDC

2',2'-DiF-dC

2',2'-difluoro-2'-Deoxycytidine

2',2'-Difluoro-2'-deoxycytidine

2',2'-Difluorodeoxycytidine

2'-Deoxy-.beta.-D-2',2'-difluorocytidine

2'-Deoxy-2',2'-difluorocytidine

2'-Deoxy-2',2''-difluorocytidine-5'-O-monophosphate

2'-Deoxy-2'-difluorocytidine

4-amino-1-((2R,4R,5R)-3,3-difluoro-4-hydroxy-5-(hydroxymethyl)-tetrahydrofuran-2-yl)pyrimidin-2(1H)-one

4-amino-1-((2R,4R,5R)-3,3-difluoro-4-Hydroxy-5-(hydroxymethyl)-tetrahydrofuran-2-yl)pyrimidin-2(1H)-one

4-Amino-1-[(2R,4R,5R)-3,3-difluoro-4-hydroxy-5-(hydroxymethyl)oxolan-2-yl]pyrimidin-2-one

4-Amino-1-[3,3-difluoro-4-hydroxy-5-(hydroxymethyl) tetrahydrofuran-2-yl]-1H-pyrimidin-2-one

95058-81-4

AB1004842

AC1L1TUQ

C07650

CCRIS 8984

CHEBI:175901

CHEMBL888

CID60750

Cytidine, 2'-deoxy-2',2'-difluoro-2'-Deoxy-.beta.-D-2',2'-difluorocytidine

D02368

DB00441

DDFC

DFdC

DFDC

DFdCyd

Folfugem

Gamcitabine

Gemcel

Gemcin

Gemcitabin

Gemcitabina

Gemcitabina [INN-Spanish]

gemcitabine

Gemcitabine

Gemcitabine (USAN/INN)

Gemcitabine HCl

Gemcitabine hydrochloride

Gemcitabine stereoisomer

Gemcitabine, (alpha-D-threo-pentofuranosyl)-isomer

Gemcitabine, (beta-D-threo-pentafuranosyl)-isomer

Gemcitabine, (D-threo-pentafuranosyl)-isomer

Gemcitabinum

Gemcitabinum [INN-Latin]

GemLip

Gemtro

Gemzar

Gemzar (hydrochloride)

GEO

HMS2089P10

HSDB 7567

Inno-D07001

LS-59139

LY 188011

LY188011

LY-188011

NCGC00168784-01

NChemBio.2007.10-comp25

nchembio.573-comp7

nchembio.90-comp2

NSC 613327

NSC613327

TL8005979

UNII-B76N6SBZ8R

Zefei

ZINC18279854

Docetaxel

Approved, Investigational

Phase 2, Phase 3

114977-28-5

148124

Synonyms:

(2alpha,5beta,7beta,10beta,13alpha)-4-(acetyloxy)-13-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7,10-trihydroxy-9-oxo-5,20-epoxytax-11-en-2-yl benzoate

(2aR,4S,4aS,6R,9S,11S,12S,12aR,12bS)-12b-(acetyloxy)-12-(benzoyloxy)-2a,3,4,4a,5,6,9,10,11,12,12a,12b-dodecahydro-4,6,11-trihydroxy-4a,8,13,13-tetramethyl-5-oxo-7,11-methano-1H-cyclodeca[3,4]benz[1,2-b]oxet-9-yl (aR,bS)-b-[[(1,1-dimethylethoxy)carbonyl]amino]-a-hydroxybenzenepropanoate

01885_FLUKA

114977-28-5

4-(acetyloxy)-13alpha-({(2R,3S)-3-[(tert-butoxycarbonyl)amino]-2-hydroxy-3-phenylpropanoyl}oxy)-1,7beta,10beta-trihydroxy-9-oxo-5beta,20-epoxytax-11-en-2alpha-yl benzoate

AC1L3WHJ

AC-383

ANX-514

BIND-014

C11231

CHEBI:4672

CHEMBL92

CID148124

D07866

DB01248

docetaxel

Docetaxel

Docetaxel (INN)

docetaxel 114977-28-5

Docetaxel anhydrous

Docetaxel hydrate

Docetaxel trihydrate

Docetaxel, trihydrate

Docetaxel, Trihydrate

Docetaxol

EmDOC

HMS2089K08

InChI=1/C43H53NO14/c1-22-26(55-37(51)32(48)30(24-15-11-9-12-16-24)44-38(52)58-39(3,4)5)20-43(53)35(56-36(50)25-17-13-10-14-18-25)33-41(8,34(49)31(47)29(22)40(43,6)7)27(46)19-28-42(33,21-54-28)57-23(2)45/h9-18,26-28,30-33,35,46-48,53H,19-21H2,1-8H3,(H,44,5

MolPort-003-847-005

nchembio.188-comp8

nchembio.2007.34-comp7

nchembio.573-comp11

nchembio853-comp8

N-debenzoyl-N-(tert-butoxycarbonyl)-10-deacetylpaclitaxel

N-Debenzoyl-N-(tert-butoxycarbonyl)-10-deacetylpaclitaxel

N-debenzoyl-N-(tert-butoxycarbonyl)-10-deacetyltaxol

N-Debenzoyl-N-(tert-butoxycarbonyl)-10-deacetyltaxol

N-debenzoyl-N-Boc-10-deacetyl taxol

N-Debenzoyl-N-tert-butoxycarbonyl-10-deacetyltaxol

NSC-628503

PSMA-targeted docetaxel nanoparticle

RP-56976

SDP-014

Taxoltere metro

Taxotere

Taxotere (TN)

Taxotere(R)

TXL

XRP-6976L

Antimetabolites

Phase 3,Phase 2,Not Applicable

Mitogens

Phase 3,Phase 1,Phase 2

Immunosuppressive Agents

Phase 3

Anti-Infective Agents

Phase 3

Immunologic Factors

Phase 3,Phase 1

Antiviral Agents

Phase 3

Antimetabolites, Antineoplastic

Phase 3

Antimitotic Agents

Phase 2, Phase 3

Simvastatin

Approved

Phase 2,Not Applicable

79902-63-9

54454

Synonyms:

(+)-Simvastatin

(1S,3R,7S,8S,8aR)-8-{2-[(2R,4R)-4-hydroxy-6-oxotetrahydro-2H-pyran-2-yl]ethyl}-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl 2,2-dimethylbutanoate

[(1S,3R,7S,8S,8aR)-8-[2-[(2R,4R)-4-hydroxy-6-oxooxan-2-yl]ethyl]-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl] 2,2-dimethylbutanoate

2,2-Dimethylbutanoic acid (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester

2,2-Dimethylbutyrate, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8ar)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one

2,2-dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8aR)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one

2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8ar)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one

2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8aR)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one

79902-63-9

AC-1530

AC1L1H1F

AKOS005111006

ARONIS24119

BCBcMAP01_000007

BIDD:GT0769

Bio-0672

BPBio1_001001

BRD-K22134346-001-05-8

BRN 4768037

BSPBio_000909

BSPBio_002337

Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,*aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester

Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester

Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester

butanoic acid, 2,2-dimethyl-,1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-(tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)-ethyl]-1-naphthalenyl ester, [1S-[1 alpha,3 alpha,7 beta,8 beta(2S*,4S*),-8a beta

C25H38O5

CCRIS 7558

CHEBI:9150

CHEMBL1064

Cholestat

CID54454

Coledis

Colemin

Corolin

CPD000718785

D00434

D019821

Denan

DivK1c_006991

DRG-0320

Eucor

HMS1570N11

HMS1922H13

HMS2089D12

HMS2093E06

HSDB 7208

InChI=1/C25H38O5/c1-6-25(4,5)24(28)30-21-12-15(2)11-17-8-7-16(3)20(23(17)21)10-9-19-13-18(26)14-22(27)29-19/h7-8,11,15-16,18-21,23,26H,6,9-10,12-14H2,1-5H3/t15-,16-,18+,19+,20-,21-,23-/m0/s1

KBio1_001935

KBio2_002197

KBio2_004765

KBio2_007333

KBio3_001557

KBioGR_001244

KBioSS_002197

Kolestevan

KS-1113

L 644128-000U

Labistatin

Lipex

Lipinorm

Liponorm

Lipovas

Lodales

LS-46264

Medipo

MK 0733

MK 733

MK-0733

MK733

MK-733

MLS001304029

MLS001333077

MLS001333078

MLS002154038

Modutrol

MolPort-002-507-345

MolPort-002-885-862

NCGC00017324-01

NCGC00017324-02

NCGC00017324-03

nchembio790-comp16

Nivelipol

Nor-vastina

Pantok

Pepstatin

Prestwick_171

Prestwick0_000865

Prestwick1_000865

Prestwick2_000865

Prestwick3_000865

Rechol

Rendapid

S1792_Selleck

S6196_SIGMA

SAM002589969

Simcor

Simovil

Simvast CR

simvastatin

Simvastatin

Simvastatin & Primycin

Simvastatin (JAN/USP/INN)

Simvastatin [Usan:Ban:Inn]

Simvastatin [USAN:INN:BAN]

Simvastatin lactone

Simvastatin, Compactin

Simvastatina

Simvastatina [Spanish]

Simvastatine

Simvastatine [French]

Simvastatinum

Simvastatinum [Latin]

Simvotin

Sinvacor

Sinvascor

Sivastin

SMR000718785

SPBio_001881

SPBio_002830

SpecPlus_000895

Spectrum_001717

SPECTRUM1504236

Spectrum2_001671

Spectrum3_000669

Spectrum4_000632

Spectrum5_001428

Statin

STK801938

Synvinolin

TNP00259

UNII-AGG2FN16EV

Valemia

Vasotenal

Velostatin

Vytorin

ZINC03780893

Zocor

Zocor (TN)

Zocor, Simlup, Simcard, Simvacor, Simvoget, Zorced, Simvastatin

Zocord

Ponatinib

Approved, Investigational

Phase 2

943319-70-8

24826799

tannic acid

Approved

Phase 1, Phase 2

1401-55-4

Benzocaine

Approved, Investigational

Phase 1, Phase 2

1994-09-7, 94-09-7

2337

Synonyms:

(P-(Ethoxycarbonyl)phenylamine

06952_FLUKA

112909_ALDRICH

112909_SIAL

1333-08-0

23239-88-5

23239-88-5 (hydrochloride)

4 Aminobenzoic Acid Ethyl Ester

4-(Ethoxycarbonyl)aniline

4-(Ethoxycarbonyl)phenylamine

4-14-00-01129 (Beilstein Handbook Reference)

4-Aminobenzoate

4-Aminobenzoate ethyl ester

4-Aminobenzoic acid

4-aminobenzoic acid ethyl ester

4-amino-benzoic acid ethyl ester

4-Aminobenzoic acid ethyl ester

4-Aminobenzoic acid, ethyl ester

4-Carbethoxyaniline

71123-91-6

94-09-7

94-09-7 (Parent)

A0271

AB00051923

AC1L1DGC

AC1Q341A

AC1Q64JE

Acetate, benzocaine

Acetate, Benzocaine

AE-562/40377256

Aethoform

Aethylium paraminobenzoicum

AI3-02081

AKOS000119763

Amben ethyl ester

Americaine

Anaesthan-syngala

Anaesthesin

Anaesthesinum

Anaesthin

Anestezin

Anestezin [Russian]

Anesthesin

Anesthesine

Anesthone

AR-1H9065

Baby anbesol

Baby Anbesol

BB_SC-0019

Bensokain

Benzoak

Benzocaina

Benzocaina [INN-Spanish]

benzocaine

Benzocaine

Benzocaine (USP/INN)

Benzocaine [INN:BAN]

Benzocaine acetate

Benzocaine Acetate

Benzocaine formate

Benzocaine Formate

Benzocaine hydrobromide

Benzocaine Hydrobromide

Benzocaine hydrochloride

Benzocaine Hydrochloride

Benzocaine methanesulfonate

Benzocaine Methanesulfonate

Benzocainum

Benzocainum [INN-Latin]

Benzoic acid, 4-amino-, ethyl ester

Benzoic acid, 4-amino-, ethyl ester, hydrochloride

Benzoic acid, amino-, ethyl ester

Benzoic acid, p-amino-, ethyl ester

BPBio1_001017

BRD-K75466013-001-05-2

BRN 0638434

BSPBio_000923

BSPBio_001908

C07527

CAS-94-09-7

Caswell No. 430A

CHEBI:116735

CHEMBL278172

Chloraseptic

CID2337

D001566

D00552

DB01086

Dermoplast

Diet ayds

DivK1c_000932

E1501_SIGMA

EINECS 202-303-5

EPA Pesticide Chemical Code 097001

Ethoform

Ethoforme

Ethyl 4-aminobenzoate

Ethyl 4-aminobenzoate hydrochloride

Ethyl 4-aminobenzoic acid

Ethyl aminobenzoate

Ethyl aminobenzoate (JP15)

Ethyl aminobenzoate (VAN)

Ethyl aminobenzoic acid

Ethyl PABA

Ethyl P-aminobenzenecarboxylate

Ethyl p-aminobenzoate

Ethyl P-aminobenzoate

Ethyl P-aminobenzoic acid

Ethyl p-aminophenylcarboxylate

Ethyl P-aminophenylcarboxylate

Ethyl P-aminophenylcarboxylic acid

ethylaminobenzoate-4

Ethylester kyseliny p-aminobenzoove

Ethylester kyseliny P-aminobenzoove

Ethylester kyseliny p-aminobenzoove [Czech]

Ethylis aminobenzoas

ETHYL-P-AMINOBENZOATE

Formate, benzocaine

Formate, Benzocaine

h-4-abz-oet

HMS1570O05

HMS1920G09

HMS2091M11

HMS502O14

HSDB 7225

Hurricaine

Hydrobromide, benzocaine

Hydrobromide, Benzocaine

Hydrochloride, benzocaine

Hydrochloride, Benzocaine

I05-0204

Identhesin

IDI1_000932

KBio1_000932

KBio2_000474

KBio2_003042

KBio2_005610

KBio3_001408

KBioGR_000658

KBioSS_000474

Keloform

LS-35847

Methanesulfonate, benzocaine

Methanesulfonate, Benzocaine

MLS001331704

MLS002153970

MolPort-000-871-526

NCGC00016352-01

NCGC00094598-01

NCGC00094598-02

nchembio.182-comp4

NINDS_000932

Norcain

Norcaine

Norcainum

NSC 122792

NSC 41531

NSC41531

NSC4688

Oprea1_750694

Oprea1_827402

Orabase-b

Ora-jel

Orthesin

Otocain

Outgro

p-(Ethoxycarbonyl)aniline

P-(Ethoxycarbonyl)aniline

P-Aminobenzoate

P-Aminobenzoic acid

p-Aminobenzoic acid ethyl ester

P-Aminobenzoic acid ethyl ester

p-Aminobenzoic acid, ethyl ester

p-Aminobenzoic ethyl ester

Parathesin

Parathesin (TN)

Parathesine

p-Carbethoxyaniline

P-Carbethoxyaniline

p-Ethoxycarboxylic aniline

P-Ethoxycarboxylic aniline

Prestwick_991

Prestwick0_000712

Prestwick1_000712

Prestwick2_000712

Prestwick3_000712

Slim mint gum

SMR000059025

Solarcaine

Solu H

SPBio_000134

SPBio_002844

Spectrum_000074

SPECTRUM1500139

Spectrum2_000117

Spectrum3_000314

Spectrum4_000249

Spectrum5_000860

STK043620

Topcaine

UNII-U3RSY48JW5

WLN: ZR DVO2

ZINC12358719

Tyrosine

Approved, Investigational, Nutraceutical

Phase 1, Phase 2

60-18-4

6057

Synonyms:

(-)-a-amino-P-Hydroxyhydrocinnamate

(-)-a-amino-P-Hydroxyhydrocinnamic acid

(-)-alpha-amino-P-Hydroxyhydrocinnamate

(-)-alpha-amino-P-Hydroxyhydrocinnamic acid

(-)-alpha-Amino-p-hydroxyhydrocinnamic acid

(-)-α-amino-P-hydroxyhydrocinnamate

(−)-α-amino-p-hydroxyhydrocinnamic acid

(-)-α-amino-P-hydroxyhydrocinnamic acid

(2S)-2-amino-3-(4-Hydroxyphenyl)propanoate

(2S)-2-amino-3-(4-hydroxyphenyl)propanoic acid

(2S)-2-amino-3-(4-Hydroxyphenyl)propanoic acid

(S)-(-)-Tyrosine

(S)-2-Amino-3-(4-hydroxyphenyl)propionic acid

(S)-2-amino-3-(P-Hydroxyphenyl)propionate

(S)-2-amino-3-(P-Hydroxyphenyl)propionic acid

(S)-2-Amino-3-(p-hydroxyphenyl)propionic acid

(S)-3-(p-Hydroxyphenyl)alanine

(S)-3-(P-Hydroxyphenyl)alanine

(S)-a-amino-4-Hydroxybenzenepropanoate

(S)-a-amino-4-Hydroxy-benzenepropanoate

(S)-a-amino-4-Hydroxybenzenepropanoic acid

(S)-a-amino-4-Hydroxy-benzenepropanoic acid

(S)-alpha-amino-4-Hydroxybenzenepropanoate

(S)-alpha-amino-4-Hydroxy-benzenepropanoate

(S)-alpha-amino-4-Hydroxybenzenepropanoic acid

(S)-alpha-amino-4-Hydroxy-benzenepropanoic acid

(S)-alpha-Amino-4-hydroxybenzenepropanoic acid

(S)-Tyrosine

(S)-α-amino-4-hydroxybenzenepropanoate

(S)-α-amino-4-hydroxybenzenepropanoic acid

140-43-2

1991-85-1

25619-78-7

2-amino-3-(4-Hydroxyphen yl)-2-amino-3-(4-hydroxyphenyl)-propanoate

2-amino-3-(4-Hydroxyphen yl)-2-amino-3-(4-hydroxyphenyl)-propanoic acid

2-Amino-3-(p-hydroxyphenyl)propionic acid

2csm

3-(4-Hydroxyphenyl)-L-alanine

3-(p-Hydroxyphenyl)alanine

46209-14-7

4-hydroxy-L-phenylalanine

4-Hydroxy-L-phenylalanine

4ts1

55520-40-6

60-18-4

93829_FLUKA

93829_SIGMA

AB1002647

AC-11295

AC1L1LPI

AC1Q4U7L

AC1Q4U7M

AI3-09055

alpha-Amino-beta-(4-hydroxyphenyl)propionic acid

AR-1J3457

BB_NC-1194

Benzenepropanoate

Benzenepropanoic acid

beta-(p-Hydroxyphenyl)alanine

bmse000051

C00082

CHEBI:17895

CHEMBL925

CID6057

D00022

DB00135

DB03839

DD69927C-C6A8-4BC6-8E9A-0AB423B176E7

DTY

EINECS 200-460-4

FEMA No. 3736

Free-Form L-Tyrosine

HSDB 2003

H-Tyr-OH

L Tyrosine

L-(-)-Tyrosine

L-2-Amino-3-p-hydroxyphenylpropanoic acid

L-p-Tyrosine

L-P-Tyrosine

LS-2336

L-Tyrosin

L-tyrosine

L-Tyrosine (9CI)

L-Tyrosine (JAN)

L-Tyrosine hydrochloride

L-Tyrosine, homopolymer

L-Tyrosine, monomer

Melanin synthesized from Tyr substrate catalyzed by tyrosinase for 6 hrs

Melanin synthesized from Tyr substrate catalyzed by tyrosinase for 6 hrs, oxidized with hydrogen peroxide

Melanin synthesized from Tyr substrate catalyzed by tyrosinase for 6 hrs, oxidized with hydrogen peroxide, <3 kd fraction

Melanin synthesized from Tyr substrate catalyzed by tyrosinase, brominated with N-bromosuccinimide

Melanin synthesized from Tyr substrate catalyzed by tyrosinase, sulfonated using sulfur trioxide/DMF complex for 1.5-7 hours

MolPort-001-792-016

NCGC00159350-02

NCGC00159350-03

nchembio.105-comp1

nchembio.121-comp7

nchembio.186-comp84

nchembio.284-comp7

nchembio816-comp11

NSC 82624

Para tyrosine

Para-tyrosine

p-Tyrosine

P-Tyrosine

Rxosine

T0550

T3754_SIAL

T4321_SIAL

T4321_SIGMA

T8566_SIGMA

tirosina

Tirosina

Tirosina [Spanish]

tyr

Tyr

TYR NH3+ COOH

tyrosine

Tyrosine

TYROSINE

Tyrosine (USP/INN)

Tyrosine (VAN)

Tyrosine [USAN:INN]

Tyrosine Power

Tyrosine, L- (8CI)

Tyrosine, L isomer

Tyrosine, L-isomer

Tyrosinum

Tyrosinum [Latin]

UNII-42HK56048U

W373605_ALDRICH

Anticholesteremic Agents

Phase 2,Not Applicable

Lipid Regulating Agents

Phase 2,Not Applicable

Hydroxymethylglutaryl-CoA Reductase Inhibitors

Phase 2,Not Applicable

Hypolipidemic Agents

Phase 2,Not Applicable

Liver Extracts

Phase 2,Phase 1

Protein Kinase Inhibitors

Phase 2

Cholic Acids

Phase 1, Phase 2

Gastrointestinal Agents

Phase 1, Phase 2

Antioxidants

Phase 2

Anesthetics

Phase 2

Protective Agents

Phase 2

Phytosterol

Phase 1, Phase 2,Not Applicable

Immunoglobulins

Phase 1

Antibodies

Phase 1

Antibodies, Monoclonal

Phase 1

Immunoconjugates

Phase 1

Adenosine

Approved, Investigational

58-61-7

60961

Synonyms:

(2R,3R,4S,5R)-2-(6-amino-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol

(2R,3R,4S,5R)-2-(6-aminopurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol

(2R,3R,4S,5R)-2-(6-Aminopurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol

1-(6-amino-9H-Purin-9-yl)-1-deoxy-beta-delta-ribofuranose

1-(6-amino-9H-Purin-9-yl)-1-deoxy-beta-D-ribofuranose

1odi

2fqy

2gl0

30143-02-3

46946-45-6

46969-16-8

4-Aminopyrazolo[3,4-d]pyrimidine ribonucleoside

58-61-7

6-Amino-9-.beta.-ribofuranosyl-9H-purine

6-amino-9-b-D-Ribofuranosyl-9H-purine

6-amino-9beta-delta-Ribofuranosyl-9H-purine

6-amino-9beta-D-Ribofuranosyl-9H-purine

6-amino-9-beta-D-Ribofuranosyl-9H-purine

6-Amino-9beta-D-ribofuranosyl-9H-purine

6-Amino-9-beta-D-ribofuranosyl-9H-purine

6-amino-9-β-D-ribofuranosyl-9H-purine

9-(beta-D-Arabinofuranosyl)adenine

9-b-D-Ribofuranosidoadenine

9-b-D-Ribofuranosyl-9H-purin-6-amine

9-beta-D-Arabinofuranosyladenine

9-beta-delta-Arabinofuranosyladenine

9-beta-delta-Ribofuranosidoadenine

9beta-delta-Ribofuranosyl-9H-purin-6-amine

9-beta-delta-Ribofuranosyl-9H-purin-6-amine

9beta-delta-Ribofuranosyladenine

9-beta-delta-Ribofuranosyladenine

9-beta-D-Ribofuranosidoadenine

9beta-D-Ribofuranosyl-9H-purin-6-amine

9-beta-D-Ribofuranosyl-9H-purin-6-amine

9beta-D-Ribofuranosyladenine

9-beta-D-Ribofuranosyladenine

9-β-D-ribofuranosidoadenine

9-β-D-ribofuranosyl-9H-purin-6-amine

A0152

A4036_SIGMA

A9251_SIGMA

AC1L1U8O

AC1Q1ID3

AC1Q52XU

Adenin riboside

Adenine 9-beta-D-arabinofuranoside

Adenine deoxyribonucleoside

Adenine Deoxyribonucleoside

Adenine nucleoside

Adenine riboside

Adenine-9beta-delta-ribofuranoside

Adenine-9beta-D-ribofuranoside

Adenine-9-beta-D-ribofuranoside

adenine-D-ribose

Adenocard

Adenocard (TN)

Adenocard, Adenosine

Adenocor

Adenogesic

Adenoscan

Adenoscan (TN)

Adenosin

Adenosin [German]

Adenosina

adenosine

Adenosine

Adénosine

Adenosine (JAN/USP)

Adenosine [USAN:BAN]

Adenosine, homopolymer

Adenosinum

Adensoine

Adenyldeoxyriboside

Ade-rib

Ade-Rib

ADN

Ado

AI3-52413

BB_NC-0565

b-D-Adenosine

beta-Adenosine

beta-D-Adenosine

beta-delta-Adenosine

beta-D-Ribofuranoside, adenine-9

Bio1_000437

Bio1_000926

Bio1_001415

bmse000061

Boniton

BSPBio_001796

C00212

Caswell No. 010B

CCRIS 2557

CHEBI:16335

CHEMBL477

CID60961

D000241

D00045

DB00640

Deoxyadenosine

Desoxyadenosine

EA6C60C2-6AFB-4264-A2F0-541373DB950E

EINECS 200-389-9

FT-0082881

HMS1920A13

HMS2091G13

KBio3_001296

LS-15085

MEDR-640

MLS000069638

MLS002153227

MolPort-001-838-229

Myocol

NCGC00023673-03

NCGC00023673-04

NCGC00023673-05

NCGC00023673-06

NCGC00023673-07

nchembio.143-comp9

nchembio.186-comp109

nchembio.2007.56-comp13

nchembio.64-comp4

nchembio706-5

NSC 627048

NSC 7652

NSC627048

NSC7652

Nucleocardyl

Pallacor

Polyadenosine

Polyriboadenosine

S1647_Selleck

Sandesin

SDCCGMLS-0003108.P003

SMR000058216

SPBio_001194

SPECTRUM1500107

Spectrum2_001257

Spectrum3_000288

SR 96225

SR-96225

SUN-Y4001

TL8003749

UNII-K72T3FS567

USAF CB-10

V0098

Vidarabine

ZINC02169830

β-D-adenosine

Peripheral Nervous System Agents

Analgesics

Anti-Arrhythmia Agents

Neurotransmitter Agents

Vasodilator Agents

Interventional clinical trials:

(show all 39)

#	Name	Status	NCT ID	Phase	Drugs
1	Phase 3 Study of BGJ398 (Oral Infigratinib) in First Line Cholangiocarcinoma With FGFR2 Gene Fusions/Translocations	Recruiting	NCT03773302	Phase 3	BGJ398;Gemcitabine;Cisplatin
2	A Study of Bemarituzumab (FPA144) Combined With Modified FOLFOX6 (mFOLFOX6) in Gastric/Gastroesophageal Junction Cancer (FIGHT)	Recruiting	NCT03694522	Phase 3	bemarituzumab (FPA144);Placebo;mFOLFOX6
3	Lung-MAP: AZD4547 as Second-Line Therapy in Treating FGFR Positive Patients With Recurrent Stage IV Squamous Cell Lung Cancer	Active, not recruiting	NCT02965378	Phase 2, Phase 3	Docetaxel;FGFR Inhibitor AZD4547
4	Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome	Unknown status	NCT00004347	Phase 2
5	Derazantinib in Subjects With FGFR2 Gene Fusion Positive Inoperable or Advanced Intrahepatic Cholangiocarcinoma	Recruiting	NCT03230318	Phase 2	derazantinib
6	A Phase II, Single Arm Study of BGJ398 in Patients With Advanced Cholangiocarcinoma	Recruiting	NCT02150967	Phase 2	BGJ398 (infigratinib)
7	Phase 1/2 Study of ARQ 087 in Adult Subjects With Advanced Solid Tumors With FGFR Genetic Alterations	Completed	NCT01752920	Phase 1, Phase 2	ARQ 087
8	A Study of TAS-120 in Patients With Advanced Solid Tumors	Recruiting	NCT02052778	Phase 1, Phase 2	TAS-120
9	Dovitinib for Gastric Cancer With FGFR2 Amplification	Completed	NCT01719549	Phase 2	Dovitinib
10	Ponatinib Hydrochloride in Treating Patients With Advanced Biliary Cancer With FGFR2 Fusions	Active, not recruiting	NCT02265341	Phase 2	Ponatinib Hydrochloride
11	BGJ398 in Treating Patients With FGFR Positive Recurrent Head and Neck Cancer	Terminated	NCT02706691	Phase 2	BGJ398
12	Erdafitinib in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With FGFR Mutations (A Pediatric MATCH Treatment Trial)	Recruiting	NCT03210714	Phase 2	Erdafitinib
13	Smith-Lemli-Opitz Syndrome and Cholic Acid	Not yet recruiting	NCT03720990	Phase 1, Phase 2	Cholic Acid
14	Clinical Trial of Fat Grafts Supplemented With Adipose-derived Regenerative Cells	Completed	NCT01674439	Phase 2
15	Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)	Recruiting	NCT01773278	Phase 2	Antioxidants;Cholesterol
16	Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome	Completed	NCT00272844	Phase 1, Phase 2	crystalline cholesterol oil-based suspension
17	Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome	Completed	NCT00114634	Phase 2
18	Simvastatin Therapy in Smith-Lemli-Opitz Syndrome	Completed	NCT00064792	Phase 2	Simvastatin Susp.;OraPlus
19	Phase I, Dose-escalation Trial of BAY1187982 in Subjects With Advanced Solid Tumors Known to Express Fibroblast Growth Factor Receptor 2 (FGFR2)	Terminated	NCT02368951	Phase 1	BAY1187982
20	Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia	Unknown status	NCT01660308
21	Role of Mesenchymal Stem Cells in Fat Grafting	Unknown status	NCT02494752	Not Applicable
22	Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK)	Unknown status	NCT02224677
23	SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation	Unknown status	NCT01434745	Not Applicable	Simvastatin
24	Observing the Relationship of Fibroblast Growth Factor and Fibroblast in Thyroid Eye Disease	Recruiting	NCT03324022
25	Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions	Not yet recruiting	NCT01306994
26	Molecular and Structural Comparison of Hypospadic and Normal Children Prepuces	Recruiting	NCT03838458
27	Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome	Recruiting	NCT01144741
28	Study of Quality of Life in Freeman-Sheldon Syndrome and Related Conditions	Terminated	NCT01307475
29	Genetic and Functional Analysis of Craniometaphyseal Dysplasia (CMD)	Recruiting	NCT01630460
30	Computer Guided for Mandibular Distraction Osteogenesis	Completed	NCT03869021	Not Applicable
31	Evaluation of Effect of Bone Marrow Aspirate Concentrate on Distracted Mandibular Bone Properties	Completed	NCT03861650	Not Applicable
32	Fat Grafts With Adipose-derived Regenerative Cells for Soft Tissue Reconstruction in Children	Recruiting	NCT03806361	Not Applicable
33	Bohring-Opitz Syndrome and ASXL Registry	Recruiting	NCT03303716
34	Natural History of Craniofacial Anomalies and Developmental Growth Variants	Recruiting	NCT02639312
35	A Long-Term Study of Cholesterol Supplements for Smith-Lemli-Opitz Syndrome	Withdrawn	NCT01413425
36	Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome	Terminated	NCT01356420	Not Applicable
37	Prenatal Screening For Smith-Lemli-Opitz Syndrome	Completed	NCT00070850
38	Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans	Completed	NCT00017732
39	Study of Smith-Lemli-Opitz Syndrome	Recruiting	NCT00001721

Search NIH Clinical Center for Crouzon Syndrome

Cochrane evidence based reviews: craniofacial dysostosis

Sources

Genetic Tests for Crouzon Syndrome

Genetic tests related to Crouzon Syndrome:

#	Genetic test	Affiliating Genes
1	Crouzon Syndrome ³⁰	FGFR2

Sources

Anatomical Context for Crouzon Syndrome

MalaCards organs/tissues related to Crouzon Syndrome:

⁴²

Bone, Eye, Lung, Skin, Thyroid, Prostate, Bone Marrow

Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Crouzon Syndrome:

#	Tissue Anatomical CompartmentCell	Relevance
1	Bone Rostral Skull Membranous Bones Intramembrenous Osteocytes	Affected by disease

Sources

Publications for Crouzon Syndrome

Articles related to Crouzon Syndrome:

(show top 50) (show all 225)

#	Title	Authors	Year
1	Expanding the phenotype for the recurrent p.Ala391Glu variant in FGFR3: Beyond crouzon syndrome and acanthosis nigricans. ( 31016899 )	Rymer K...Rhodes J	2019
2	Lack of association of cranial lacunae with intracranial hypertension in children with Crouzon syndrome and Apert syndrome: a 3D morphometric quantitative analysis. ( 30661112 )	Mondal A...James G	2019
3	Midface correction in patients with Crouzon syndrome is Le Fort III distraction osteogenesis with a rigid external distraction device the gold standard? ( 30642732 )	Engel M...Kansy K	2019
4	Detection of G338R FGFR2 mutation in a Vietnamese patient with Crouzon syndrome. ( 30719288 )	Luong ALT...Chu HH	2019
5	Orbit, zygoma, and maxilla growth patterns in Crouzon syndrome. ( 30389113 )	Lu X...Persing JA	2019
6	Crouzon syndrome: Genetic and intervention review. ( 30202723 )	Al-Namnam NM...Rahman ZA	2019
7	Crouzon Syndrome Associated with Congenital Coarctation of Aorta. ( 29893369 )	Meng B...Zhang H	2018
8	Optic Nerve Hypoplasia and Crouzon Syndrome. ( 30571838 )	Eves D...Boyle MA	2018
9	Dental consequences of pterygomaxillary dysjunction during fronto-facial monobloc advancement with internal distraction for Crouzon syndrome. ( 29970285 )	Sicard L...Arnaud E	2018
10	Airway management in a patient with Crouzon syndrome proposed to orthognathic surgery. ( 29848516 )	Fernandes M...Marcelino J	2018
11	An inherited FGFR2 mutation increased osteogenesis gene expression and result in Crouzon syndrome. ( 29848297 )	Fan J...Fan X	2018
12	Postoperative Hearing Loss in a Patient With Crouzon Syndrome: A Case Report. ( 29634565 )	Butler CG...Nargozian CD	2018
13	Glaucoma With Crouzon Syndrome. ( 29557836 )	Alshamrani AA...Al-Shahwan S	2018
14	Improvement of Color Vision Following Posterior Cranial Vault Distraction for Crouzon Syndrome. ( 29485554 )	Asaad M...Denny AD	2018
15	Crouzon Syndrome: A Case Series of Craniomaxillofacial Distraction Osteogenesis for Functional Rehabilitation. ( 29268076 )	Hariri F...Ganesan D	2018
16	Using Photovoice to Explore Quality of Life Factors of Adults With Crouzon Syndrome. ( 29224414 )	Wheeler KJ...Early JO	2018
17	Extensive phenotyping of the orofacial and dental complex in Crouzon syndrome. ( 29223639 )	Khominsky A...Anderson PJ	2018
18	A unique case of lissencephaly with Crouzon syndrome heterozygous for FGFR2 mutation. ( 29067506 )	Tan AP...Mankad K	2018
19	Pattern of Closure of Skull Base Synchondroses in Crouzon Syndrome. ( 29024761 )	Coll G...Di Rocco F	2018
20	C-type natriuretic peptide analog treatment of craniosynostosis in a Crouzon syndrome mouse model. ( 30048539 )	Holmes G...Jabs EW	2018
21	Surgical Correction of Severe Kyphoscoliosis Associated with Crouzon Syndrome with Serious Postoperative Respiratory Problems: A Case Report. ( 29280899 )	Umezu T...Watanabe K	2017
22	Sleep-related hypermotor epilepsy in a patient with mild Crouzon syndrome. ( 29235060 )	Petelin Gadze Z...Sulentic V	2017
23	Identical Twins with Crouzon Syndrome: Eight-Year Follow-up, Genetic Considerations, and Operative Management. ( 29109840 )	Lloyd MS...Buchanan EP	2017
24	Crouzon syndrome - A rare case report. ( 29085273 )	Kalanjiam V...Manoharan GVMG	2017
25	FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome. ( 28901406 )	Lin Y...Lu L	2017
26	Subluxation of Eyes in Crouzon Syndrome. ( 28891490 )	Purushothaman KK...Sujatha N	2017
27	Clinical characteristics of Crouzon syndrome. ( 28757702 )	Balyen L...Pasa S	2017
28	The effect of early fusion of the spheno-occipital synchondrosis on midface hypoplasia and obstructive sleep apnea in patients with Crouzon syndrome. ( 28479031 )	Driessen C...Mathijssen IM	2017
29	Anesthetic Implications in a Child with Crouzon Syndrome. ( 28298794 )	Kumar A...Singh A	2017
30	Crouzon syndrome with multiple supernumerary teeth. ( 28091449 )	Torun GS...Akbulut A	2017
31	Midface Distraction Osteogenesis Using a Modified External Device With Elastic Distraction for Crouzon Syndrome. ( 28060091 )	Tong H...Zhao Z	2017
32	Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family. ( 28611549 )	Graul-Neumann LM...Kress W	2017
33	Monobloc Le Fort III Distraction Osteogenesis for Correction of Severe Fronto-orbital and Midface Hypoplasia in Pediatric Crouzon Syndrome. ( 25650655 )	Hariri F...Ganesan D	2016
34	Crouzon Syndrome: Visual Diagnosis. ( 26283152 )	Giordano BP...Tuli SY	2016
35	Raised intracranial pressure in Crouzon syndrome: incidence, causes, and management. ( 26613275 )	Abu-Sittah GS...Hayward R	2016
36	Crouzon Syndrome: Report in a Family. ( 26894196 )	Kumar DS...Maheshwari SU	2016
37	High Le Fort I osteotomy for correction of mid-face deformity in Crouzon syndrome. ( 27092811 )	Nakajima Y...Mori Y	2016
38	The Phenotypes of Spheno-Occipital Synchondrosis in Patients With Crouzon Syndrome. ( 27391494 )	Li J...Li S	2016
39	Individualized therapy for treating obstructive sleep apnea in pediatric Crouzon syndrome patients. ( 27424047 )	Yu W...Lu X	2016
40	Molecular analysis of FGFR 2 and associated clinical observations in two Chinese families with Crouzon syndrome. ( 27430617 )	Lin Y...Liu Y	2016
41	Crouzon syndrome: Virtual planning of surgical treatment by application of internal distractors. ( 27563623 )	Rahimov C...Farzaliyev I	2016
42	FGFR2 mutation in a Chinese family with unusual Crouzon syndrome. ( 27803855 )	Li ZL...Sheng XL	2016
43	FGFR2 mutation in 46,XY sex reversal with craniosynostosis. ( 26362256 )	Bagheri-Fam S...Harley VR	2015
44	The C342R mutation in FGFR2 causes Crouzon syndrome with elbow deformity. ( 25759925 )	Ke R...Mu X	2015
45	S267P mutation in FGFR2: first report in a patient with Crouzon syndrome. ( 25759927 )	Ke R...Mu X	2015
46	Bilateral congenital cholesteatoma of the temporal bone in Crouzon syndrome. ( 25993748 )	Djeri? D...Bla?i? S	2015
47	Lumboatrial shunt in a patient with Crouzon syndrome complicated by pseudotumor cerebri. ( 26021731 )	Sankey EW...Rigamonti D	2015
48	Surgical Treatment of V-pattern Exotropia in Crouzon Syndrome. ( 26098546 )	Qiao T...Chen J	2015
49	Crouzon Syndrome: Relationship of Eye Movements to Pattern Strabismus. ( 26176876 )	Weiss AH...Phillips JO	2015
50	Crouzon syndrome: Ophthalmologic complications in an untreated adult patient. ( 26194556 )	Sastre-Ib??ez M...Garc?a-Feijoo J	2015

Sources

Genes for Crouzon Syndrome

Genes related to Crouzon Syndrome (4 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	FGFR2	Fibroblast Growth Factor Receptor 2	Protein Coding	1731.08	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation (gain of function) ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)	7987400 20301628 7719345 (more) 8528214 10633130 7874170 7719329 7581378 7607643 8522336 1697263 2172978 9048930 8644708 9152842 7655462 9169049 16061565 10394936 15286168 9677057 9385368 26362256 8957519 16158432 7773284 7607643 7581378 12186468 15916101 10712195 16470531 18393251 17850625 15206560 11711827 9207932 7719344 7592798 8755573 7719345 10574673 7874170 9475591 9475590 11596961 10541159 7493034 7632866 7773284 15523492 11380921 10851026 7558045 11870239 17537644 7987400 14969379 11484208 11069376 8664424 11571861 10706360 9586546 8956050 8676563 8528214 16299148 15282208 11173845 7795583 15060342 12162872 11325814 8880573 12182844 15602758
2	FGFR3	Fibroblast Growth Factor Receptor 3	Protein Coding	455.18	Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Variants (show sections)	20301628 7493034 11426459 (more) 10696568 8880573 17875876 9182787 17935505 11571861 14969379 19622626 8696350 16384584 16500676 8676563 10541159 16778799 11870239 9151669
3	TCOF1	Treacle Ribosome Biogenesis Factor 1	Protein Coding	417.04	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	20301628 20301704
4	ERF	ETS2 Repressor Factor	Protein Coding	354.18	Causative germline mutation (loss of function) ⁶⁰ DISEASES inferred ¹⁵
5	FGF2	Fibroblast Growth Factor 2	Protein Coding	27.47	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	12182844 10930313 10706360 (more) 17537644
6	FGFR1	Fibroblast Growth Factor Receptor 1	Protein Coding	25.3	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	11571861
7	MSX2	Msh Homeobox 2	Protein Coding	21.07	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	7632866 8664424
8	DCN	Decorin	Protein Coding	19.34	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	10384983
9	BMP6	Bone Morphogenetic Protein 6	Protein Coding	16.85	GeneCards inferred via : Publications (show sections)
10	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	16.85	GeneCards inferred via : Publications (show sections)
11	ALX3	ALX Homeobox 3	Protein Coding	15.98	DISEASES inferred ¹⁵
12	RPS6KB2	Ribosomal Protein S6 Kinase B2	Protein Coding	15.62	DISEASES inferred ¹⁵
13	FGF13	Fibroblast Growth Factor 13	Protein Coding	15.41	DISEASES inferred ¹⁵
14	VWA1	Von Willebrand Factor A Domain Containing 1	Protein Coding	15.21	DISEASES inferred ¹⁵
15	IL11RA	Interleukin 11 Receptor Subunit Alpha	Protein Coding	14.99	DISEASES inferred ¹⁵
16	TGFBR3	Transforming Growth Factor Beta Receptor 3	Protein Coding	14.82	DISEASES inferred ¹⁵

Sources

Variations for Crouzon Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Crouzon Syndrome:

⁷⁶ (show all 36)

#	Symbol	AA change	Variation ID	SNP ID
1	FGFR2	p.Tyr105Cys	VAR_004112	rs143454523
2	FGFR2	p.Ser267Pro	VAR_004118	rs121918505
3	FGFR2	p.Phe276Val	VAR_004120	rs105751903
4	FGFR2	p.Cys278Phe	VAR_004121	rs776587763
5	FGFR2	p.Gln289Pro	VAR_004123	rs121918497
6	FGFR2	p.Trp290Arg	VAR_004125	rs121918501
7	FGFR2	p.Lys292Glu	VAR_004126	rs121918500
8	FGFR2	p.Tyr301Cys	VAR_004127
9	FGFR2	p.Tyr328Cys	VAR_004130	rs121918493
10	FGFR2	p.Asn331Ile	VAR_004131
11	FGFR2	p.Gly338Glu	VAR_004133	rs105751904
12	FGFR2	p.Tyr340His	VAR_004134	rs121918489
13	FGFR2	p.Thr341Pro	VAR_004135	rs121918495
14	FGFR2	p.Cys342Phe	VAR_004136	rs121918487
15	FGFR2	p.Cys342Arg	VAR_004137	rs121918488
16	FGFR2	p.Cys342Ser	VAR_004138	rs121918488
17	FGFR2	p.Cys342Tyr	VAR_004139	rs121918487
18	FGFR2	p.Ala344Gly	VAR_004140	rs121918492
19	FGFR2	p.Ala344Pro	VAR_004141
20	FGFR2	p.Ser347Cys	VAR_004142	rs121918494
21	FGFR2	p.Ser351Cys	VAR_004143	rs121918502
22	FGFR2	p.Ser354Cys	VAR_004144	rs121918490
23	FGFR2	p.Val359Phe	VAR_004146
24	FGFR2	p.Gly384Arg	VAR_004147
25	FGFR2	p.Gly338Arg	VAR_015011	rs105751904
26	FGFR2	p.Pro263Leu	VAR_017261	rs779326224
27	FGFR2	p.Cys278Tyr	VAR_017263	rs776587763
28	FGFR2	p.Tyr281Cys	VAR_017264	rs105751903
29	FGFR2	p.Ile288Ser	VAR_017265
30	FGFR2	p.Trp290Gly	VAR_017266	rs121918501
31	FGFR2	p.Ala337Pro	VAR_017268	rs387906676
32	FGFR2	p.Cys342Trp	VAR_017271	rs121918496
33	FGFR2	p.Ser354Tyr	VAR_017272
34	FGFR2	p.Ala362Ser	VAR_017273
35	FGFR2	p.Asn549His	VAR_017276	rs105751904
36	FGFR2	p.Arg678Gly	VAR_017281

ClinVar genetic disease variations for Crouzon Syndrome:

⁶ (show top 50) (show all 196)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	FGFR2	NM_000141.4(FGFR2): c.1025G> A (p.Cys342Tyr)	single nucleotide variant	Pathogenic	rs121918487	GRCh37	Chromosome 10, 123276892: 123276892
2	FGFR2	NM_000141.4(FGFR2): c.1025G> A (p.Cys342Tyr)	single nucleotide variant	Pathogenic	rs121918487	GRCh38	Chromosome 10, 121517378: 121517378
3	FGFR2	NM_000141.4(FGFR2): c.1018T> C (p.Tyr340His)	single nucleotide variant	Pathogenic	rs121918489	GRCh37	Chromosome 10, 123276899: 123276899
4	FGFR2	NM_000141.4(FGFR2): c.1018T> C (p.Tyr340His)	single nucleotide variant	Pathogenic	rs121918489	GRCh38	Chromosome 10, 121517385: 121517385
5	FGFR2	NM_000141.4(FGFR2): c.1061C> G (p.Ser354Cys)	single nucleotide variant	Pathogenic	rs121918490	GRCh37	Chromosome 10, 123276856: 123276856
6	FGFR2	NM_000141.4(FGFR2): c.1061C> G (p.Ser354Cys)	single nucleotide variant	Pathogenic	rs121918490	GRCh38	Chromosome 10, 121517342: 121517342
7	FGFR2	NM_000141.4(FGFR2): c.1024T> C (p.Cys342Arg)	single nucleotide variant	Pathogenic	rs121918488	GRCh37	Chromosome 10, 123276893: 123276893
8	FGFR2	NM_000141.4(FGFR2): c.1024T> C (p.Cys342Arg)	single nucleotide variant	Pathogenic	rs121918488	GRCh38	Chromosome 10, 121517379: 121517379
9	FGFR2	NM_000141.4(FGFR2): c.1024T> A (p.Cys342Ser)	single nucleotide variant	Pathogenic	rs121918488	GRCh37	Chromosome 10, 123276893: 123276893
10	FGFR2	NM_000141.4(FGFR2): c.1024T> A (p.Cys342Ser)	single nucleotide variant	Pathogenic	rs121918488	GRCh38	Chromosome 10, 121517379: 121517379
11	FGFR2	NM_000141.4(FGFR2): c.1032G> A (p.Ala344=)	single nucleotide variant	Pathogenic	rs121918491	GRCh37	Chromosome 10, 123276885: 123276885
12	FGFR2	NM_000141.4(FGFR2): c.1032G> A (p.Ala344=)	single nucleotide variant	Pathogenic	rs121918491	GRCh38	Chromosome 10, 121517371: 121517371
13	FGFR2	NM_000141.4(FGFR2): c.1031C> G (p.Ala344Gly)	single nucleotide variant	Pathogenic	rs121918492	GRCh37	Chromosome 10, 123276886: 123276886
14	FGFR2	NM_000141.4(FGFR2): c.1031C> G (p.Ala344Gly)	single nucleotide variant	Pathogenic	rs121918492	GRCh38	Chromosome 10, 121517372: 121517372
15	FGFR2	NM_000141.4(FGFR2): c.983A> G (p.Tyr328Cys)	single nucleotide variant	Pathogenic	rs121918493	GRCh37	Chromosome 10, 123276934: 123276934
16	FGFR2	NM_000141.4(FGFR2): c.983A> G (p.Tyr328Cys)	single nucleotide variant	Pathogenic	rs121918493	GRCh38	Chromosome 10, 121517420: 121517420
17	FGFR2	NM_000141.4(FGFR2): c.1040C> G (p.Ser347Cys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121918494	GRCh37	Chromosome 10, 123276877: 123276877
18	FGFR2	NM_000141.4(FGFR2): c.1026C> G (p.Cys342Trp)	single nucleotide variant	Pathogenic	rs121918496	GRCh37	Chromosome 10, 123276891: 123276891
19	FGFR2	NM_000141.4(FGFR2): c.1026C> G (p.Cys342Trp)	single nucleotide variant	Pathogenic	rs121918496	GRCh38	Chromosome 10, 121517377: 121517377
20	FGFR2	NM_000141.4(FGFR2): c.866A> C (p.Gln289Pro)	single nucleotide variant	Pathogenic	rs121918497	GRCh37	Chromosome 10, 123279566: 123279566
21	FGFR2	NM_000141.4(FGFR2): c.1040C> G (p.Ser347Cys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs121918494	GRCh38	Chromosome 10, 121517363: 121517363
22	FGFR2	NM_022970.3(FGFR2): c.755C> G (p.Ser252Trp)	single nucleotide variant	Pathogenic	rs79184941	GRCh37	Chromosome 10, 123279677: 123279677
23	FGFR2	NM_000141.4(FGFR2): c.866A> C (p.Gln289Pro)	single nucleotide variant	Pathogenic	rs121918497	GRCh38	Chromosome 10, 121520052: 121520052
24	FGFR2	NM_022970.3(FGFR2): c.755C> G (p.Ser252Trp)	single nucleotide variant	Pathogenic	rs79184941	GRCh38	Chromosome 10, 121520163: 121520163
25	FGFR2	NM_000141.4(FGFR2): c.758C> G (p.Pro253Arg)	single nucleotide variant	Pathogenic	rs77543610	GRCh37	Chromosome 10, 123279674: 123279674
26	FGFR2	NM_000141.4(FGFR2): c.758C> G (p.Pro253Arg)	single nucleotide variant	Pathogenic	rs77543610	GRCh38	Chromosome 10, 121520160: 121520160
27	FGFR2	NM_000141.4(FGFR2): c.1124A> G (p.Tyr375Cys)	single nucleotide variant	Pathogenic	rs121913478	GRCh37	Chromosome 10, 123274794: 123274794
28	FGFR2	NM_000141.4(FGFR2): c.1124A> G (p.Tyr375Cys)	single nucleotide variant	Pathogenic	rs121913478	GRCh38	Chromosome 10, 121515280: 121515280
29	FGFR2	NM_000141.4(FGFR2): c.874A> G (p.Lys292Glu)	single nucleotide variant	Pathogenic	rs121918500	GRCh37	Chromosome 10, 123279558: 123279558
30	FGFR2	NM_000141.4(FGFR2): c.874A> G (p.Lys292Glu)	single nucleotide variant	Pathogenic	rs121918500	GRCh38	Chromosome 10, 121520044: 121520044
31	FGFR2	NM_000141.4(FGFR2): c.868T> C (p.Trp290Arg)	single nucleotide variant	Pathogenic	rs121918501	GRCh37	Chromosome 10, 123279564: 123279564
32	FGFR2	NM_000141.4(FGFR2): c.868T> C (p.Trp290Arg)	single nucleotide variant	Pathogenic	rs121918501	GRCh38	Chromosome 10, 121520050: 121520050
33	FGFR2	NM_000141.4(FGFR2): c.868T> G (p.Trp290Gly)	single nucleotide variant	Pathogenic	rs121918501	GRCh37	Chromosome 10, 123279564: 123279564
34	FGFR2	NM_000141.4(FGFR2): c.868T> G (p.Trp290Gly)	single nucleotide variant	Pathogenic	rs121918501	GRCh38	Chromosome 10, 121520050: 121520050
35	FGFR2	NM_000141.4(FGFR2): c.799T> C (p.Ser267Pro)	single nucleotide variant	Pathogenic	rs121918505	GRCh37	Chromosome 10, 123279633: 123279633
36	FGFR2	NM_000141.4(FGFR2): c.799T> C (p.Ser267Pro)	single nucleotide variant	Pathogenic	rs121918505	GRCh38	Chromosome 10, 121520119: 121520119
37	FGFR2	NM_000141.4(FGFR2): c.1576A> G (p.Lys526Glu)	single nucleotide variant	Pathogenic	rs121918507	GRCh37	Chromosome 10, 123258105: 123258105
38	FGFR2	NM_000141.4(FGFR2): c.1576A> G (p.Lys526Glu)	single nucleotide variant	Pathogenic	rs121918507	GRCh38	Chromosome 10, 121498591: 121498591
39	FGFR2	NM_000141.4(FGFR2): c.1084+3A> G	single nucleotide variant	Pathogenic	rs879253721	GRCh38	Chromosome 10, 121517316: 121517316
40	FGFR2	NM_000141.4(FGFR2): c.1084+3A> G	single nucleotide variant	Pathogenic	rs879253721	GRCh37	Chromosome 10, 123276830: 123276830
41	FGFR3	NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg)	single nucleotide variant	Pathogenic	rs4647924	GRCh37	Chromosome 4, 1803571: 1803571
42	FGFR3	NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg)	single nucleotide variant	Pathogenic	rs4647924	GRCh38	Chromosome 4, 1801844: 1801844
43	FGFR2	NM_000141.4(FGFR2): c.1009G> C (p.Ala337Pro)	single nucleotide variant	Pathogenic	rs387906676	GRCh37	Chromosome 10, 123276908: 123276908
44	FGFR2	NM_000141.4(FGFR2): c.1009G> C (p.Ala337Pro)	single nucleotide variant	Pathogenic	rs387906676	GRCh38	Chromosome 10, 121517394: 121517394
45	FGFR2	NM_000141.4(FGFR2): c.17G> C (p.Arg6Pro)	single nucleotide variant	Benign	rs3750819	GRCh37	Chromosome 10, 123353315: 123353315
46	FGFR2	NM_000141.4(FGFR2): c.17G> C (p.Arg6Pro)	single nucleotide variant	Benign	rs3750819	GRCh38	Chromosome 10, 121593801: 121593801
47	FGFR2	NM_000141.4(FGFR2): c.170C> T (p.Ser57Leu)	single nucleotide variant	Benign/Likely benign	rs56226109	GRCh37	Chromosome 10, 123325158: 123325158
48	FGFR2	NM_000141.4(FGFR2): c.170C> T (p.Ser57Leu)	single nucleotide variant	Benign/Likely benign	rs56226109	GRCh38	Chromosome 10, 121565644: 121565644
49	FGFR2	NM_000141.4(FGFR2): c.557T> C (p.Met186Thr)	single nucleotide variant	Benign	rs755793	GRCh37	Chromosome 10, 123310871: 123310871
50	FGFR2	NM_000141.4(FGFR2): c.557T> C (p.Met186Thr)	single nucleotide variant	Benign	rs755793	GRCh38	Chromosome 10, 121551357: 121551357

Sources

Expression for Crouzon Syndrome

Search GEO for disease gene expression data for Crouzon Syndrome.

Sources

Pathways for Crouzon Syndrome

Pathways related to Crouzon Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 52)

#	Super pathways	Score	Top Affiliating Genes
1	ERK Signaling ⁶⁵ Show member pathways ILK Signaling ⁶⁵ MAPK Signaling ⁶⁵ Molecular Mechanisms of Cancer ⁶⁵ Rho Family GTPases ⁶⁵	13.82	BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
2	GPCR Pathway ⁶⁵ Show member pathways Breast Cancer Regulation by Stathmin1 ⁶⁵ Estrogen Pathway ⁶⁵ NFAT in Immune Response ⁶⁵ P2Y Receptor Signaling ⁶⁵ Pancreatic Adenocarcinoma ⁶⁵ Paxillin Interactions ⁶⁵ Ras Pathway ⁶⁵	13.68	BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
3	Activation of cAMP-Dependent PKA ⁶⁵ Show member pathways Activation of PKA through GPCR ⁶⁵ cAMP Pathway ⁶⁵ PKA Signaling ⁶⁵	13.52	BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
4	TGF-Beta Pathway ⁶⁵ Show member pathways JAK-STAT Pathway ⁶⁵ JNK Pathway ⁶⁵ MAPK Family Pathway ⁶⁵ Regulation of eIF4 and p70S6K ⁶⁵ SOCS Pathway ⁶⁵	13.49	BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
5	Akt Signaling ⁶⁵ Show member pathways p38 Signaling ⁶⁵ Tec Kinases Signaling ⁶⁵	13.39	BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
6	Cytokine Signaling in Immune system ⁶⁷ Show member pathways Signaling by Interleukins ⁶⁷	13.3	FGF2 FGFR1 FGFR2 FGFR3 IL11RA TGFB1
7	CREB Pathway ⁶⁵ Show member pathways Activation of PKC through GPCR ⁶⁵ Intracellular Calcium Signaling ⁶⁵ IP3 Pathway ⁶⁵	13.28	BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
8	Nanog in Mammalian ESC Pluripotency ⁶⁵ Show member pathways 14-3-3 Induced Intracellular Signaling ⁶⁵ eNOS Signaling ⁶⁵ GSK3 Signaling ⁶⁵	13.23	BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
9	PAK Pathway ⁶⁵ Show member pathways Antioxidant Action of Vitamin-C ⁶⁵ Epithelial Adherens Junctions ⁶⁵	13.18	BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
10	Phospholipase-C Pathway ⁶⁵ Show member pathways PTEN Pathway ⁶⁵	12.99	BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
11	PI3K-Akt signaling pathway ³⁸ Show member pathways Human papillomavirus infection ³⁸	12.94	FGF2 FGFR1 FGFR2 FGFR3 RPS6KB2
12	p70S6K Signaling ⁶⁵ Show member pathways mTOR Pathway ⁶⁵ Renin-Angiotensin Pathway ⁶⁵	12.92	BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
13	NFAT and Cardiac Hypertrophy ⁶⁵ Show member pathways IGF1R Signaling ⁶⁵ Signaling Involved in Cardiac Hypertrophy ⁶⁵	12.83	FGFR1 FGFR2 FGFR3 TGFB1 TGFBR3
14	Pathways in cancer ³⁸	12.82	FGF2 FGFR1 FGFR2 FGFR3 RPS6KB2 TGFB1
15	MAPK signaling pathway ¹ ³⁸	12.74	FGF2 FGFR1 FGFR2 FGFR3 TGFB1
16	Gastric cancer ³⁸ Show member pathways Breast cancer ³⁸ Hepatocellular carcinoma ³⁸	12.74	FGF2 FGFR1 FGFR2 RPS6KB2 TGFB1
17	Downstream signaling events of B Cell Receptor (BCR) ⁶⁷ Show member pathways Activation of RAS in B cells ⁶⁷ Signaling by the B Cell Receptor (BCR) ⁶⁷	12.71	FGF2 FGFR1 FGFR2 FGFR3 RPS6KB2
18	Glioma ³⁸ Show member pathways Endocrine resistance ³⁸ Melanoma ³⁸ Non-small cell lung cancer ³⁸ Signaling Pathways in Glioblastoma ¹	12.68	FGF2 FGFR1 FGFR2 FGFR3 RPS6KB2
19	Regulation of actin cytoskeleton ³⁸ ¹	12.61	FGF13 FGF2 FGFR1 FGFR2 FGFR3
20	NF-KappaB Family Pathway ⁶⁵ Show member pathways NF-KappaB (p50-p65) Pathway ⁶⁵	12.53	BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
21	mTOR signaling pathway (KEGG) ³⁸ Show member pathways mTOR Signaling Pathway ⁶⁶	12.47	FGFR1 FGFR2 FGFR3 RPS6KB2
22	Development FGFR signaling pathway ²³ Show member pathways Development FGF-family signaling ²³ Development Flt3 signaling ²³ FGF Pathway ⁶⁵	12.44	FGF13 FGF2 FGFR1 FGFR2 FGFR3
23	Apoptosis Pathway ⁷³ Show member pathways Akt Pathway ⁷³ NF-kappaB Pathway ⁷³	12.42	FGFR1 FGFR2 FGFR3 TGFBR3
24	mTOR signalling ⁶⁷ Show member pathways Energy dependent regulation of mTOR by LKB1-AMPK ⁶⁷ mTORC1-mediated signalling ⁶⁷ PDE3B signalling ⁶⁷ PI3K Cascade ⁶⁷ PKB-mediated events ⁶⁷ Target Of Rapamycin (TOR) Signaling ¹	12.39	FGF2 FGFR1 FGFR2 FGFR3
25	RhoGDI Pathway ⁶⁵ Show member pathways Fc-GammaR-Mediated Phagocytosis in Macrophages ⁶⁵	12.38	FGF13 FGF2 FGFR1 FGFR2 FGFR3
26	G-protein signaling RAC1 in cellular process ²³ Show member pathways CDC42 signaling events ¹ Cytoskeleton remodeling CDC42 in cellular processes ²³ RAC1 signaling pathway ¹	12.32	BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
27	Proteoglycans in cancer ³⁸	12.27	DCN FGF2 FGFR1 RPS6KB2 TGFB1
28	Signaling by FGFR2 ⁶⁷ Show member pathways FGFR2 ligand binding and activation ⁶⁷ FGFR2b ligand binding and activation ⁶⁷ Signaling by FGFR ⁶⁷	12.26	FGF2 FGFR1 FGFR2 FGFR3
29	VEGF Signaling Pathway ⁶⁸ ⁶² Show member pathways Nanoparticle-mediated activation of receptor signaling ¹ TGF-beta Signaling ⁶⁸	12.22	FGF2 FGFR1 FGFR2 FGFR3
30	MAPK Signaling: Mitogen Stimulation Pathway ⁶⁶ Show member pathways Akt Signaling Pathway ⁶⁶	12.19	FGFR1 FGFR2 FGFR3 IL11RA RPS6KB2
31	Signaling by FGFR2 in disease ⁶⁷ Show member pathways FGFR2 mutant receptor activation ⁶⁷ Signaling by FGFR in disease ⁶⁷ Signaling by FGFR2 IIIa TM ⁶⁷	12.15	FGF2 FGFR1 FGFR2 FGFR3
32	Tyrosine Kinases / Adaptors ⁴	12.12	FGF2 FGFR1 FGFR2 FGFR3
33	AKT Signaling Pathway ⁶⁸	12.11	FGFR1 FGFR2 FGFR3 IL11RA RPS6KB2
34	Signaling pathways regulating pluripotency of stem cells ³⁸	12.09	FGF2 FGFR1 FGFR2 FGFR3
35	Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁶	12.01	FGF13 FGF2 TGFB1
36	Immune response IFN gamma signaling pathway ²³ Show member pathways IFN-gamma pathway ¹	11.88	BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
37	TGF-beta signaling pathway (KEGG) ³⁸	11.86	BMP6 DCN RPS6KB2 TGFB1
38	Neural Crest Differentiation ¹	11.81	FGF2 FGFR1 FGFR2 FGFR3 MSX2
39	Neural Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁶	11.76	FGF2 FGFR1 FGFR3
40	Central carbon metabolism in cancer ³⁸	11.67	FGFR1 FGFR2 FGFR3
41	Cell adhesion_Plasmin signaling ²³	11.53	FGF2 FGFR1 TGFB1 TGFBR3
42	Alzheimers Disease Pathway ⁶⁵	11.49	FGFR1 FGFR2 FGFR3
43	Endochondral Ossification ¹	11.47	BMP6 FGF2 FGFR1 FGFR3 TGFB1
44	Vemurafenib Pathway, Pharmacodynamics ⁶²	11.44	FGF2 FGFR1 FGFR2 FGFR3
45	Immune response IFN alpha/beta signaling pathway ²³ Show member pathways Cytokine Network ⁶⁵ Interferon alpha/beta signaling ⁶⁷ Regulation of IFNA signaling ⁶⁷	11.43	BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
46	G-protein signaling_Cross-talk between Ras-family GTPases ²³	11.4	FGFR1 FGFR2 FGFR3 TGFB1 TGFBR3
47	G-protein signaling_RhoA regulation pathway ²³	11.39	BMP6 FGF13 FGF2 FGFR1 FGFR2 FGFR3
48	Angiogenesis (CST) ⁴	11.38	FGF2 FGFR1 FGFR2 FGFR3 TGFB1 TGFBR3
49	Glypican 1 network ¹	11.22	FGF2 FGFR1 TGFB1
50	Angiogenesis (WikiPathways) ¹	11.09	FGF2 FGFR2

Sources

GO Terms for Crouzon Syndrome

Cellular components related to Crouzon Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular region	GO:0005576	9.65	BMP6 DCN FGF13 FGF2 FGFR1 FGFR2
2	extracellular matrix	GO:0031012	9.46	DCN TGFB1 TGFBR3 VWA1
3	receptor complex	GO:0043235	9.02	FGFR1 FGFR2 FGFR3 IL11RA TGFBR3

Biological processes related to Crouzon Syndrome according to GeneCards Suite gene sharing:

(show all 43)

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of apoptotic process	GO:0042981	9.96	ALX3 BMP6 MSX2 TGFB1
2	positive regulation of cell proliferation	GO:0008284	9.91	BMP6 FGF2 FGFR1 FGFR2 FGFR3 IL11RA
3	positive regulation of MAPK cascade	GO:0043410	9.86	FGFR1 FGFR2 FGFR3
4	animal organ morphogenesis	GO:0009887	9.86	DCN FGF2 FGFR2
5	skeletal system development	GO:0001501	9.86	BMP6 FGFR1 FGFR3 TCOF1
6	BMP signaling pathway	GO:0030509	9.84	BMP6 MSX2 TGFBR3
7	cell differentiation	GO:0030154	9.82	BMP6 ERF FGF2
8	negative regulation of epithelial cell proliferation	GO:0050680	9.81	FGFR2 TGFB1 TGFBR3
9	positive regulation of epithelial cell proliferation	GO:0050679	9.81	BMP6 FGFR2 TGFB1
10	positive regulation of MAP kinase activity	GO:0043406	9.8	FGF2 FGFR1 TGFB1
11	positive regulation of protein kinase B signaling	GO:0051897	9.8	FGF2 FGFR1 FGFR2 FGFR3 TGFB1
12	peptidyl-tyrosine phosphorylation	GO:0018108	9.79	FGFR1 FGFR2 FGFR3
13	positive regulation of blood vessel endothelial cell migration	GO:0043536	9.79	FGF2 FGFR1 TGFB1
14	positive regulation of cell division	GO:0051781	9.78	FGF2 FGFR2 TGFB1
15	positive regulation of ERK1 and ERK2 cascade	GO:0070374	9.76	FGF2 FGFR2 FGFR3 TGFB1
16	ureteric bud development	GO:0001657	9.75	FGFR1 FGFR2 TGFB1
17	chondrocyte differentiation	GO:0002062	9.74	FGFR1 FGFR3 TGFB1
18	fibroblast growth factor receptor signaling pathway	GO:0008543	9.73	FGF2 FGFR1 FGFR2 FGFR3
19	epithelial to mesenchymal transition	GO:0001837	9.72	FGFR2 TGFB1 TGFBR3
20	bone morphogenesis	GO:0060349	9.7	FGFR2 FGFR3 MSX2
21	positive regulation of vascular endothelial cell proliferation	GO:1905564	9.69	FGF2 FGFR1
22	positive regulation of phosphatidylinositol 3-kinase activity	GO:0043552	9.69	FGF2 FGFR3 TGFB1
23	hyaluronan catabolic process	GO:0030214	9.68	FGF2 TGFB1
24	pathway-restricted SMAD protein phosphorylation	GO:0060389	9.68	TGFB1 TGFBR3
25	positive regulation of phospholipase C activity	GO:0010863	9.67	FGF2 FGFR1
26	branching involved in salivary gland morphogenesis	GO:0060445	9.67	FGFR1 FGFR2
27	positive regulation of SMAD protein signal transduction	GO:0060391	9.67	BMP6 TGFB1
28	mesenchymal cell differentiation	GO:0048762	9.65	FGFR1 FGFR2
29	salivary gland morphogenesis	GO:0007435	9.65	FGFR1 TGFB1
30	ventricular cardiac muscle tissue morphogenesis	GO:0055010	9.65	FGFR2 TGFB1 TGFBR3
31	lung-associated mesenchyme development	GO:0060484	9.64	FGFR1 FGFR2
32	frontal suture morphogenesis	GO:0060364	9.6	MSX2 TGFB1
33	orbitofrontal cortex development	GO:0021769	9.59	FGFR1 FGFR2
34	positive regulation of endothelial cell chemotaxis to fibroblast growth factor	GO:2000546	9.58	FGF2 FGFR1
35	ventricular zone neuroblast division	GO:0021847	9.54	FGFR1 FGFR2
36	positive regulation of phospholipase activity	GO:0010518	9.5	FGFR1 FGFR2 FGFR3
37	fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development	GO:0035607	9.49	FGFR1 FGFR2
38	positive regulation of cardiac muscle cell proliferation	GO:0060045	9.46	FGF2 FGFR1 FGFR2 TGFBR3
39	endochondral bone growth	GO:0003416	9.43	FGFR2 FGFR3 MSX2
40	MAPK cascade	GO:0000165	9.43	FGF13 FGF2 FGFR1 FGFR2 FGFR3 TGFB1
41	wound healing	GO:0042060	9.02	DCN FGF2 FGFR2 MSX2 TGFB1
42	negative regulation of transcription by RNA polymerase II	GO:0000122	10.1	BMP6 ERF FGFR1 FGFR2 MSX2 TGFB1
43	protein phosphorylation	GO:0006468	10.08	FGFR1 FGFR2 FGFR3 RPS6KB2 TGFB1

Molecular functions related to Crouzon Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	growth factor activity	GO:0008083	9.71	BMP6 FGF13 FGF2 TGFB1
2	transmembrane receptor protein tyrosine kinase activity	GO:0004714	9.61	FGFR1 FGFR2 FGFR3
3	heparin binding	GO:0008201	9.56	FGF2 FGFR1 FGFR2 TGFBR3
4	protein tyrosine kinase activity	GO:0004713	9.54	FGFR1 FGFR2 FGFR3
5	type II transforming growth factor beta receptor binding	GO:0005114	9.46	TGFB1 TGFBR3
6	transforming growth factor beta receptor binding	GO:0005160	9.33	BMP6 TGFB1 TGFBR3
7	receptor-receptor interaction	GO:0090722	9.32	FGF2 FGFR1
8	transmembrane signaling receptor activity	GO:0004888	9.18	IL11RA
9	fibroblast growth factor-activated receptor activity	GO:0005007	9.13	FGFR1 FGFR2 FGFR3
10	fibroblast growth factor binding	GO:0017134	8.92	FGFR1 FGFR2 FGFR3 TGFBR3

Sources

Sources for Crouzon Syndrome

¹ BioSystems

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⁴⁹ NCBI Bookshelf

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⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Crouzon Syndrome (CS)

Aliases & Classifications for Crouzon Syndrome

MalaCards integrated aliases for Crouzon Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Crouzon Syndrome

Related Diseases for Crouzon Syndrome

Diseases related to Crouzon Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Crouzon Syndrome:

Symptoms & Phenotypes for Crouzon Syndrome

Human phenotypes related to Crouzon Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Crouzon Syndrome:

MGI Mouse Phenotypes related to Crouzon Syndrome:

Drugs & Therapeutics for Crouzon Syndrome

Drugs for Crouzon Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Cochrane evidence based reviews: craniofacial dysostosis

Genetic Tests for Crouzon Syndrome

Genetic tests related to Crouzon Syndrome:

Anatomical Context for Crouzon Syndrome

MalaCards organs/tissues related to Crouzon Syndrome:

Publications for Crouzon Syndrome

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Genes for Crouzon Syndrome

Genes related to Crouzon Syndrome (4 elite genes):

Variations for Crouzon Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Crouzon Syndrome:

ClinVar genetic disease variations for Crouzon Syndrome:

Expression for Crouzon Syndrome

Pathways for Crouzon Syndrome

Pathways related to Crouzon Syndrome according to GeneCards Suite gene sharing:

GO Terms for Crouzon Syndrome

Cellular components related to Crouzon Syndrome according to GeneCards Suite gene sharing:

Biological processes related to Crouzon Syndrome according to GeneCards Suite gene sharing:

Molecular functions related to Crouzon Syndrome according to GeneCards Suite gene sharing:

Sources for Crouzon Syndrome