MCID: MNK003
MIFTS: 63

Muenke Syndrome malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories
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Summaries for Muenke Syndrome

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21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Muenke syndrome is a condition characterized by the premature closure of the coronal suture of the skull (coronal craniosynostosis) during development. this affects the shape of the head and face. other variable features include abnormalities of the hands or feet, hearing loss and developmental delay. muenke syndrome is caused by mutations in the fgfr3 gene. it is inherited in an autosomal dominant pattern.   last updated: 10/3/2011

MalaCards: Muenke Syndrome, also known as muenke nonsyndromic coronal craniosynostosis, is related to osteochondroma and craniosynostosis, and has symptoms including cone epiphyses/epiphysis, short foot/brachydactyly of toes and proptosis/exophthalmos. An important gene associated with Muenke Syndrome is FGFR3 (fibroblast growth factor receptor 3), and among its related pathways are Endochondral Ossification and Signaling by FGFR3 mutants. The compounds thalidomide and sulfate have been mentioned in the context of this disorder. Affiliated tissues include bone, temporal lobe and testes, and related mouse phenotypes are renal/urinary system and hearing/vestibular/ear.

Genetics Home Reference:21 Muenke syndrome is a condition characterized by the premature closure of certain bones of the skull (craniosynostosis) during development, which affects the shape of the head and face.

Wikipedia:65 Muenke syndrome, also known as FGFR3-related craniosynostosis, is a human specific condition... more...

Description from OMIM:47 602849

GeneReviews summary for muenke

Aliases & Classifications for Muenke Syndrome

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Sources:
65Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

49
muenke syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

muenke syndrome 65 19 43 20 22 21 47 45 49
muenke nonsyndromic coronal craniosynostosis 43 21
fgfr3-associated coronal synostosis 65 21
craniosynostosis, adelaide type 47 62
syndrome of coronal craniosynostosis 43
mucopolysaccharidosis, mps-iv-a 62
adelaide-type craniosynostosis 65
mucopolysaccharidosis iv 62


External Ids:

ICD10 via Orphanet26 Q87.0
SNOMED-CT via Orphanet59 440350001
UMLS via Orphanet63 C1864436
OMIM47 602849
MESH via Orphanet36 C537369

Related Diseases for Muenke Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Muenke Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 44)
idRelated DiseaseScoreTop Affiliating Genes
1osteochondroma30.5FGFR3
2craniosynostosis30.4FGFR1, FGFR2, TWIST1, FGFR3
3hypochondroplasia30.0FGFR1, FGFR2, FGFR3
4synostosis30.0FGFR2, FGFR1, FGFR3, TWIST1
5fgfr3-related craniosynostosis10.3
6brachydactyly10.3
7osteoglophonic dysplasia10.1FGFR1
8hypertension10.1
9intracranial hypertension10.1
10hemimegalencephaly10.1
11nasodigitoacoustic syndrome10.1
12beare-stevenson cutis gyrata syndrome10.1FGFR2
13antley-bixler syndrome10.1FGFR2
14achondroplasia10.0FGFR2, FGFR3
15ladd syndrome10.0FGFR3, FGFR2
16strabismus10.0FGFR3, FGFR2
17thanatophoric dysplasia10.0FGFR2, FGFR3
18nasopharynx carcinoma10.0FGFR1, TWIST1
19acanthosis nigricans10.0FGFR2, FGFR3
20syndactyly10.0FGFR2, FGFR3
21infectious mononucleosis10.0FGFR2, FGFR1
22transitional cell carcinoma10.0FGFR3, FGFR2
23bladder carcinoma10.0FGFR3, FGFR2
24skin disease10.0FGFR3, FGFR2
25embryonal cancer10.0FGFR2, FGFR1
26crouzon syndrome10.0FGFR2, FGFR3, FGFR1
27fgfr-related craniosynostosis syndromes10.0FGFR2, FGFR3, FGFR1
28jackson-weiss syndrome10.0FGFR2, FGFR1, FGFR3
29acrocephalosyndactylia10.0FGFR1, FGFR3, FGFR2
30skeletal dysplasias10.0FGFR2, FGFR1, FGFR3
31dwarfism10.0FGFR2, FGFR3, FGFR1
32developmental disabilities10.0FGFR3, FGFR1, FGFR2
33chondrosarcoma10.0FGFR1, FGFR3, FGFR2
34stomach cancer9.9TWIST1, FGFR3, FGFR2
35cleft palate9.9FGFR1, FGFR2, TWIST1
36tongue squamous cell carcinoma9.9FGFR2, FGFR3, TWIST1
37pancreatic cancer9.9FGFR1, FGFR2, TWIST1
38colorectal cancer9.9FGFR3, FGFR1, FGFR2
39breast cancer9.9TWIST1, FGFR1, FGFR2
40hepatocellular carcinoma9.9TWIST1, FGFR2, FGFR1
41saethre-chotzen syndrome9.9TWIST1, FGFR2, FGFR1, FGFR3
42melanoma9.9FGFR3, FGFR1, FGFR2
43prostate cancer9.9FGFR1, TWIST1, FGFR3, FGFR2
44leukemia9.9FGFR2, FGFR3, FGFR1

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



Diseases related to muenke syndrome

Symptoms for Muenke Syndrome

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

602849

Clinical features from OMIM:

602849

Symptoms:

49 (show all 18)
  • cone epiphyses/epiphysis
  • short foot/brachydactyly of toes
  • proptosis/exophthalmos
  • carpal bones fusion/synostosis
  • plagiocephaly
  • tarsal anomaly/fusion/synostosis
  • short hand/brachydactyly
  • mid-facial hypoplasia/short/small midface
  • brachycephaly/flat occiput
  • hypertelorism
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • ptosis
  • autosomal dominant inheritance
  • high vaulted/narrow palate
  • hydrocephaly
  • cranial hypertension
  • sensorineural deafness/hearing loss
  • macrocephaly/macrocrania/megalocephaly/megacephaly

Drugs & Therapeutics for Muenke Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Muenke Syndrome

Search NIH Clinical Center for Muenke Syndrome

Genetic Tests for Muenke Syndrome

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Muenke Syndrome:

id Genetic test Affiliating Genes
1 Muenke Syndrome20 22 FGFR3

Anatomical Context for Muenke Syndrome

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33MalaCards
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MalaCards organs/tissues related to Muenke Syndrome:

33
Bone, Temporal lobe, Testes

Animal Models for Muenke Syndrome or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Muenke Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.5FGFR3, FGFR2
2MP:00053778.8FGFR2, FGFR1, FGFR3
3MP:00053718.3FGFR3, FGFR1, FGFR2, TWIST1
4MP:00053828.3TWIST1, FGFR2, FGFR1, FGFR3
5MP:00053818.2TWIST1, FGFR2, FGFR1, FGFR3
6MP:00053908.2FGFR3, FGFR1, FGFR2, TWIST1
7MP:00053868.1FGFR3, FGFR1, FGFR2, TWIST1
8MP:00053848.1TWIST1, FGFR2, FGFR1, FGFR3
9MP:00036318.0TWIST1, FGFR2, FGFR1, FGFR3
10MP:00053787.8FGFR3, FGFR1, FGFR2, TWIST1

Publications for Muenke Syndrome

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Sources:
52PubMed
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Articles related to Muenke Syndrome:

(show all 25)
idTitleAuthorsYear
1
Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism. (23378035)
2013
2
A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation - case report and review of the literature. (24168007)
2013
3
Genetic rescue of Muenke syndrome model hearing loss reveals prolonged FGF-dependent plasticity in cochlear supporting cell fates. (24145799)
2013
4
Muenke syndrome mutation, FgfR3PA^a8'a8'R, causes TMJ defects. (22622662)
2012
5
Palatal and oral manifestations of Muenke syndrome (FGFR3-related craniosynostosis). (22565872)
2012
6
Phenotype profile of a genetic mouse model for Muenke syndrome. (22872265)
2012
7
Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis. (23044018)
2012
8
Muenke syndrome associated with multiple osteochondromas. (22446440)
2012
9
Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype. (21204234)
2011
10
Prenatal diagnosis of craniosynostosis: sonographic features of Muenke syndrome. (22085076)
2011
11
Coronal synostosis syndrome (Muenke syndrome): the value of genetic testing versus clinical diagnosis. (21233754)
2011
12
Additional phenotypic features of Muenke syndrome in 2 Dutch families. (21403557)
2011
13
The Muenke syndrome mutation (FgfR3P244R) causes cranial base shortening associated with growth plate dysfunction and premature perichondrial ossification in murine basicranial synchondroses. (22016144)
2011
14
Genetic-environmental interaction in a unique case of Muenke syndrome with intracranial hypertension. (21971908)
2011
15
A Korean family with the Muenke syndrome. (20592905)
2010
16
Hearing loss in a mouse model of Muenke syndrome. (18818193)
2009
17
Muenke syndrome with osteochondroma. (19097163)
2009
18
Significant phenotypic variability of Muenke syndrome in identical twins. (19449410)
2009
19
A young patient with polyarthralgia and hearing loss: a case report of Muenke syndrome. (19449001)
2009
20
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. (18000976)
2007
21
Craniofacial morphology in Muenke syndrome. (17414289)
2007
22
Trigonocephaly in Muenke syndrome. (17036334)
2006
23
Muenke syndrome. (14963686)
2004
24
Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia. (12794698)
2003
25
Muenke Syndrome (20301588)
1993

Variations for Muenke Syndrome

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Muenke Syndrome:

64
id Symbol AA change Variation ID SNP ID
1FGFR3p.Pro250ArgVAR_004150rs4647924

Clinvar genetic disease variations for Muenke Syndrome:

1 (show all 17)
id Gene Name Type Significance SNP ID Assembly Location
1FGFR3NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg)single nucleotide variantPathogenicrs4647924GRCh37Chr 4, 1803571: 1803571
2GALNSNM_000512.4(GALNS): c.1019G> A (p.Gly340Asp)single nucleotide variantPathogenicrs267606838GRCh37Chr 16, 88893230: 88893230
3GALNSNM_000512.4(GALNS): c.612C> G (p.Asn204Lys)single nucleotide variantPathogenicrs118204435GRCh37Chr 16, 88902630: 88902630
4GALNSNM_000512.4(GALNS): c.413T> C (p.Val138Ala)single nucleotide variantPathogenicrs118204436GRCh37Chr 16, 88907409: 88907409
5GALNSNM_000512.4(GALNS): c.1156C> T (p.Arg386Cys)single nucleotide variantPathogenicrs118204437GRCh37Chr 16, 88891261: 88891261
6GALNSNM_000512.4(GALNS): c.1460A> G (p.Asn487Ser)single nucleotide variantPathogenicrs118204440GRCh37Chr 16, 88884437: 88884437
7GALNSNM_000512.4(GALNS): c.337A> T (p.Ile113Phe)single nucleotide variantPathogenicrs118204438GRCh37Chr 16, 88907485: 88907485
8GALNSNM_000512.4(GALNS): c.1417C> T (p.Gln473Ter)single nucleotide variantPathogenicrs118204439GRCh37Chr 16, 88884480: 88884480
9GALNSNM_000512.4(GALNS): c.280C> G (p.Arg94Gly)single nucleotide variantPathogenicrs118204441GRCh37Chr 16, 88908344: 88908344
10GALNSNM_000512.4(GALNS): c.776G> A (p.Arg259Gln)single nucleotide variantPathogenicrs118204442GRCh37Chr 16, 88901743: 88901743
11GALNSNM_000512.4(GALNS): c.871G> A (p.Ala291Thr)single nucleotide variantPathogenicrs118204448GRCh37Chr 16, 88901648: 88901648
12GALNSNM_000512.4(GALNS): c.901G> T (p.Gly301Cys)single nucleotide variantPathogenicrs118204443GRCh37Chr 16, 88898507: 88898507
13GALNSNM_000512.4(GALNS): c.485C> T (p.Ser162Phe)single nucleotide variantPathogenicrs118204444GRCh37Chr 16, 88904111: 88904111
14GALNSNM_000512.4(GALNS): c.205T> G (p.Phe69Val)single nucleotide variantPathogenicrs118204445GRCh37Chr 16, 88909153: 88909153
15GALNSNM_000512.4(GALNS): c.689G> A (p.Trp230Ter)single nucleotide variantPathogenicrs118204449GRCh37Chr 16, 88902202: 88902202
16GALNSNM_000512.4(GALNS): c.935C> G (p.Thr312Ser)single nucleotide variantPathogenicrs118204446GRCh37Chr 16, 88898473: 88898473
17GALNSNM_000512.4(GALNS): c.178G> A (p.Asp60Asn)single nucleotide variantPathogenicrs118204447GRCh37Chr 16, 88909180: 88909180

Expression for genes affiliated with Muenke Syndrome

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Muenke Syndrome

Search GEO for disease gene expression data for Muenke Syndrome.

Pathways for genes affiliated with Muenke Syndrome

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Sources:
50PathCards, 38NCBI BioSystems Database, 55Reactome, 53QIAGEN, 30KEGG, 54R&D Systems, 5Cell Signaling Technology, 51PharmGKB, 57SinoBiological, 61Tocris Bioscience, 60Thomson Reuters
See all sources

Pathways related to Muenke Syndrome according to GeneCards/GeneDecks:

(show all 43)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2FGFR1, FGFR3
2
Show member pathways
9.2FGFR1, FGFR3
39.1FGFR2, FGFR1
4
Show member pathways
8.7FGFR3, FGFR1, FGFR2
5
Show member pathways
8.7FGFR3, FGFR1, FGFR2
6
Show member pathways
8.7FGFR3, FGFR1, FGFR2
7
Show member pathways
8.7FGFR3, FGFR1, FGFR2
88.7FGFR3, FGFR1, FGFR2
9
Show member pathways
8.7FGFR2, FGFR1, FGFR3
108.7FGFR3, FGFR1, FGFR2
11
Show member pathways
8.7FGFR2, FGFR1, FGFR3
12
Show member pathways
8.7FGFR3, FGFR1, FGFR2
13
Show member pathways
8.7FGFR3, FGFR1, FGFR2
14
Show member pathways
8.7FGFR2, FGFR1, FGFR3
15
Show member pathways
8.7FGFR3, FGFR1, FGFR2
168.7FGFR3, FGFR1, FGFR2
17
Show member pathways
8.7FGFR3, FGFR1, FGFR2
18
Show member pathways
8.7FGFR2, FGFR1, FGFR3
19
Show member pathways
8.7FGFR2, FGFR1, FGFR3
20
Show member pathways
8.7FGFR2, FGFR1, FGFR3
21
Show member pathways
8.7FGFR2, FGFR1, FGFR3
22
Show member pathways
8.7FGFR3, FGFR1, FGFR2
23
Show member pathways
8.7FGFR2, FGFR1, FGFR3
248.7FGFR3, FGFR1, FGFR2
258.7FGFR3, FGFR1, FGFR2
268.7FGFR2, FGFR1, FGFR3
27
Show member pathways
8.7FGFR3, FGFR1, FGFR2
28
Show member pathways
8.7FGFR2, FGFR1, FGFR3
29
Show member pathways
8.7FGFR3, FGFR1, FGFR2
308.7FGFR3, FGFR1, FGFR2
31
Show member pathways
8.7FGFR2, FGFR1, FGFR3
32
Show member pathways
8.7FGFR3, FGFR1, FGFR2
33
Show member pathways
8.7FGFR2, FGFR1, FGFR3
34
Show member pathways
8.7FGFR3, FGFR1, FGFR2
35
Show member pathways
8.7FGFR3, FGFR1, FGFR2
36
Show member pathways
MAPK signaling pathway38
8.7FGFR2, FGFR1, FGFR3
37
Show member pathways
8.7FGFR3, FGFR1, FGFR2
38
Show member pathways
8.7FGFR3, FGFR1, FGFR2
39
Show member pathways
8.7FGFR2, FGFR1, FGFR3
40
Show member pathways
Signaling Pathways in Glioblastoma38
8.7FGFR3, FGFR1, FGFR2
41
Show member pathways
8.7FGFR3, FGFR1, FGFR2
42
Show member pathways
8.7FGFR3, FGFR1, FGFR2
438.1FGFR3, FGFR1, FGFR2, TWIST1

Compounds for genes affiliated with Muenke Syndrome

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Sources:
45Novoseek, 51PharmGKB, 61Tocris Bioscience, 11DrugBank, 24HMDB, 29IUPHAR
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Compounds related to Muenke Syndrome according to GeneCards/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
1thalidomide45 51 61 1112.7FGFR2, FGFR3
2sulfate45 2410.6FGFR2, FGFR3
3pazopanib51 1110.5FGFR3, FGFR1
4regorafenib51 1110.4FGFR1, FGFR2
5chondroitin sulfate45 2410.4FGFR2, FGFR1
6suramin45 29 1111.3FGFR1, FGFR2
7bromodeoxyuridine459.1FGFR2, FGFR1
8heparan sulfate45 2410.1FGFR1, FGFR2
9su 5402619.1FGFR3, FGFR2, FGFR1
10pd 161570619.0FGFR2, FGFR1, FGFR3
11fiin 1 hydrochloride619.0FGFR2, FGFR1, FGFR3
12su5402459.0FGFR2, FGFR1, FGFR3
13pd 17307445 6110.0FGFR3, FGFR1, FGFR2
14palifermin45 1110.0FGFR2, FGFR1, FGFR3
15ponatinib51 1110.0FGFR3, FGFR1, FGFR2
16phenylalanine459.0FGFR3, FGFR1, FGFR2
17phosphotyrosine459.0FGFR2, FGFR1, FGFR3
18lysine459.0FGFR2, FGFR1, FGFR3
19oligonucleotide458.9FGFR2, FGFR1, FGFR3
20imatinib45 51 1110.9FGFR3, FGFR1
21vegf458.9FGFR3, FGFR1, FGFR2
22threonine458.9FGFR2, FGFR1, FGFR3
23glutamate458.8FGFR3, FGFR1, FGFR2
24paclitaxel45 51 1110.8FGFR1, FGFR2, TWIST1
25cysteine458.6FGFR3, FGFR1, FGFR2
26estrogen458.6FGFR1, FGFR2, TWIST1
27tyrosine458.3FGFR3, FGFR1, FGFR2, TWIST1

GO Terms for genes affiliated with Muenke Syndrome

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16Gene Ontology
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Cellular components related to Muenke Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral component of plasma membraneGO:0058878.7FGFR3, FGFR1, FGFR2
2cytoplasmic membrane-bounded vesicleGO:0160238.4FGFR3, FGFR1, FGFR2

Biological processes related to Muenke Syndrome according to GeneCards/GeneDecks:

(show all 41)
idNameGO IDScoreTop Affiliating Genes
1lens fiber cell developmentGO:0703079.9FGFR3, FGFR2
2negative regulation of mitosisGO:0458399.9FGFR3, FGFR2
3bone morphogenesisGO:0603499.8FGFR2, FGFR3
4negative regulation of epithelial cell proliferationGO:0506809.7FGFR2, FGFR3
5positive regulation of canonical Wnt signaling pathwayGO:0902639.7FGFR3, FGFR2
6embryonic cranial skeleton morphogenesisGO:0487019.6TWIST1, FGFR2
7odontogenesisGO:0424769.6TWIST1, FGFR2
8positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:0900809.6FGFR1, FGFR3
9fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:0356079.6FGFR1, FGFR2
10ventricular zone neuroblast divisionGO:0218479.6FGFR1, FGFR2
11mesenchymal cell differentiationGO:0487629.5FGFR1, FGFR2
12lung-associated mesenchyme developmentGO:0604849.5FGFR1, FGFR2
13branching involved in salivary gland morphogenesisGO:0604459.5FGFR1, FGFR2
14positive regulation of epithelial cell proliferationGO:0506799.5TWIST1, FGFR2
15positive regulation of cardiac muscle cell proliferationGO:0600459.5FGFR1, FGFR2
16chondrocyte differentiationGO:0020629.5FGFR1, FGFR3
17skeletal system morphogenesisGO:0487059.5FGFR2, FGFR1
18positive regulation of cell cycleGO:0457879.4FGFR1, FGFR2
19outer ear morphogenesisGO:0424739.4FGFR1, TWIST1
20midbrain developmentGO:0309019.4FGFR1, FGFR2
21positive regulation of mesenchymal cell proliferationGO:0020539.4FGFR1, FGFR2
22positive regulation of ERK1 and ERK2 cascadeGO:0703749.4FGFR3, FGFR2
23ureteric bud developmentGO:0016579.4FGFR1, FGFR2
24MAPK cascadeGO:0001659.3FGFR3, FGFR1
25inner ear morphogenesisGO:0424729.2FGFR2, FGFR1
26skeletal system developmentGO:0015019.2FGFR3, FGFR1
27positive regulation of phospholipase activityGO:0105189.1FGFR3, FGFR1, FGFR2
28positive regulation of MAPK cascadeGO:0434109.1FGFR2, FGFR1, FGFR3
29peptidyl-tyrosine phosphorylationGO:0181089.1FGFR2, FGFR1, FGFR3
30phosphatidylinositol-mediated signalingGO:0480159.1FGFR2, FGFR1, FGFR3
31insulin receptor signaling pathwayGO:0082869.1FGFR2, FGFR1, FGFR3
32protein autophosphorylationGO:0467779.1FGFR2, FGFR1, FGFR3
33fibroblast growth factor receptor signaling pathwayGO:0085439.1FGFR3, FGFR1, FGFR2
34Fc-epsilon receptor signaling pathwayGO:0380959.0FGFR2, FGFR1, FGFR3
35epidermal growth factor receptor signaling pathwayGO:0071739.0FGFR2, FGFR1, FGFR3
36neurotrophin TRK receptor signaling pathwayGO:0480119.0FGFR3, FGFR1, FGFR2
37positive regulation of cell proliferationGO:0082848.9FGFR3, FGFR1, FGFR2
38in utero embryonic developmentGO:0017018.9FGFR1, FGFR2, TWIST1
39neuron migrationGO:0017648.7FGFR1, TWIST1
40innate immune responseGO:0450878.7FGFR2, FGFR1, FGFR3
41negative regulation of transcription from RNA polymerase II promoterGO:0001228.5FGFR3, FGFR1, FGFR2, TWIST1

Molecular functions related to Muenke Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:0082019.1FGFR1, FGFR2
2fibroblast growth factor-activated receptor activityGO:0050078.7FGFR3, FGFR1, FGFR2
3fibroblast growth factor bindingGO:0171348.7FGFR3, FGFR1, FGFR2
4protein tyrosine kinase activityGO:0047138.6FGFR2, FGFR1, FGFR3
5protein homodimerization activityGO:0428038.2FGFR1, FGFR2, TWIST1

Products for genes affiliated with Muenke Syndrome

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Sources for Muenke Syndrome

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet