MCID: MNK003
MIFTS: 61

Muenke Syndrome malady

Bone diseases, Fetal diseases categories

Summaries for Muenke Syndrome

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42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 craniosynostosis and hypochondroplasia, 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 p70S6K Signaling and TGF-Beta Pathway. The compounds thalidomide and SU4984 have been mentioned in the context of this disorder. Affiliated tissues include bone, temporal lobe and testes, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

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

Description from OMIM:46 602849

GeneReviews summary for muenke

Aliases & Classifications for Muenke Syndrome

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Sources:
60UMLS, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
muenke syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal/infancy


Aliases & Descriptions:

muenke syndrome 63 19 42 20 22 21 46 44 48
muenke nonsyndromic coronal craniosynostosis 42 21
fgfr3-associated coronal synostosis 63 21
craniosynostosis, adelaide type 46 60
syndrome of coronal craniosynostosis 42
mucopolysaccharidosis, mps-iv-a 60
adelaide-type craniosynostosis 63
mucopolysaccharidosis iv 60


External Ids:

ICD10 via Orphanet26 Q87.0
SNOMED-CT via Orphanet57 440350001
UMLS via Orphanet61 C1864436
OMIM46 602849
MESH via Orphanet35 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 48)
idRelated DiseaseScoreTop Affiliating Genes
1craniosynostosis30.5TWIST1, FGFR3, FGFR1, FGFR2
2hypochondroplasia30.0FGFR2, FGFR1, FGFR3
3synostosis30.0FGFR2, FGFR1, FGFR3, TWIST1
4mucopolysaccharidosis iv10.7
5mucopolysaccharidosis10.7
6brachydactyly10.2
7klippel-feil syndrome10.2
8cataract10.1
9osteochondrodysplasia10.1
10epilepsy syndrome10.0
11hypertension10.0
12intracranial hypertension10.0
13nasodigitoacoustic syndrome10.0
14osteochondroma10.0FGFR3
15cervical cancer10.0FGFR3
16osteoglophonic dysplasia10.0FGFR1
17sarcoma10.0TWIST1
18cleft lip10.0FGFR1
19beare-stevenson cutis gyrata syndrome10.0FGFR2
20antley-bixler syndrome10.0FGFR2
21thyroid cancer10.0FGFR2
22achondroplasia10.0FGFR3, FGFR2
23syndactyly10.0FGFR3, FGFR2
24ladd syndrome10.0FGFR3, FGFR2
25thanatophoric dysplasia10.0FGFR3, FGFR2
26nasopharynx carcinoma10.0TWIST1, FGFR1
27acanthosis nigricans10.0FGFR2, FGFR3
28bladder carcinoma10.0FGFR3, FGFR2
29strabismus10.0FGFR3, FGFR2
30infectious mononucleosis10.0FGFR1, FGFR2
31transitional cell carcinoma10.0FGFR3, FGFR2
32retinoblastoma10.0FGFR2, FGFR3
33crouzon syndrome10.0FGFR3, FGFR1, FGFR2
34fgfr-related craniosynostosis syndromes10.0FGFR2, FGFR1, FGFR3
35jackson-weiss syndrome10.0FGFR2, FGFR1, FGFR3
36acrocephalosyndactylia10.0FGFR3, FGFR1, FGFR2
37skeletal dysplasias10.0FGFR2, FGFR1, FGFR3
38developmental disabilities10.0FGFR2, FGFR1, FGFR3
39dwarfism10.0FGFR2, FGFR1, FGFR3
40chondrosarcoma10.0FGFR3, FGFR1, FGFR2
41cleft palate10.0FGFR2, FGFR1, TWIST1
42pancreatic cancer10.0TWIST1, FGFR1, FGFR2
43colorectal cancer10.0FGFR3, FGFR1, FGFR2
44breast cancer10.0TWIST1, FGFR1, FGFR2
45melanoma10.0FGFR3, FGFR1, FGFR2
46hepatocellular carcinoma10.0FGFR2, FGFR1, TWIST1
47saethre-chotzen syndrome10.0FGFR2, FGFR1, FGFR3, TWIST1
48stomach cancer10.0TWIST1, FGFR3, FGFR2

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



Diseases related to muenke syndrome

Clinical Features for Muenke Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

602849

Clinical synopsis from OMIM:

602849

Symptoms:

48 (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:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Muenke Syndrome

Drug clinical trials:

Search ClinicalTrials for Muenke Syndrome

Search NIH Clinical Center for Muenke Syndrome

Search CenterWatch for Muenke Syndrome

Genetic Tests for Muenke Syndrome

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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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32MalaCards
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MalaCards organs/tissues related to Muenke Syndrome:

32
Bone, Temporal lobe, Testes

Animal Models for Muenke Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Muenke Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.7FGFR3, FGFR1, FGFR2
2MP:00053828.1TWIST1, FGFR3, FGFR1, FGFR2
3MP:00053818.0FGFR2, FGFR1, FGFR3, TWIST1
4MP:00053907.8TWIST1, FGFR3, FGFR1, FGFR2

Publications for Muenke Syndrome

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Sources:
50PubMed
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Articles related to Muenke Syndrome:

(show all 31)
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
Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome. (19086028)
2009
19
Significant phenotypic variability of Muenke syndrome in identical twins. (19449410)
2009
20
A young patient with polyarthralgia and hearing loss: a case report of Muenke syndrome. (19449001)
2009
21
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. (18000976)
2007
22
Craniofacial morphology in Muenke syndrome. (17414289)
2007
23
Trigonocephaly in Muenke syndrome. (17036334)
2006
24
Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. (16251895)
2006
25
Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity. (14613973)
2004
26
Muenke syndrome. (14963686)
2004
27
Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia. (12794698)
2003
28
The pattern of skeletal anomalies in the cervical spine, hands and feet in patients with Saethre-Chotzen syndrome and Muenke-type mutation. (12612814)
2003
29
Typical features of craniofacial growth of the FGFR3-associated coronal synostosis syndrome (so-called Muenke craniosynostosis)]. (12764678)
2003
30
The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. (10696568)
2000
31
Muenke Syndrome (20301588)
1993

Genetic Variations for Muenke Syndrome

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Muenke Syndrome:

62
id Symbol AA change Variation ID SNP ID
1FGFR3p.Pro250ArgVAR_004150rs4647924

Expression for genes affiliated with Muenke Syndrome

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1BioGPS, 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:
51QIAGEN, 37NCBI BioSystems Database, 53Reactome, 29KEGG, 52R&D Systems, 4Cell Signaling Technology, 49PharmGKB, 12EMD Millipore, 59Tocris Bioscience
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Pathways related to Muenke Syndrome according to GeneCards/GeneDecks:

(show all 40)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.0FGFR2
2
Hide members
10.0FGFR2
39.2FGFR1, FGFR3
49.1FGFR1, FGFR2
5
Hide members
8.7FGFR2, FGFR1, FGFR3
6
Hide members
8.7FGFR3, FGFR1, FGFR2
78.7FGFR3, FGFR2, FGFR1
88.7FGFR3, FGFR2, FGFR1
9
Hide members
8.7FGFR2, FGFR3, FGFR1
10
Hide members
8.7FGFR2, FGFR1, FGFR3
11
Hide members
8.7FGFR2, FGFR1, FGFR3
12
Hide members
8.7FGFR3, FGFR2, FGFR1
13
Hide members
8.7FGFR2, FGFR1, FGFR3
14
Hide members
8.7FGFR1, FGFR3, FGFR2
15
Hide members
8.7FGFR2, FGFR3, FGFR1
168.7FGFR1, FGFR2, FGFR3
17
Hide members
8.7FGFR3, FGFR1, FGFR2
18
Hide members
8.7FGFR1, FGFR2, FGFR3
19
Hide members
8.7FGFR2, FGFR3, FGFR1
20
Hide members
8.7FGFR3, FGFR1, FGFR2
21
Hide members
8.7FGFR3, FGFR2, FGFR1
228.7FGFR2, FGFR1, FGFR3
238.7FGFR2, FGFR1, FGFR3
24
Hide members
8.7FGFR3, FGFR1, FGFR2
258.7FGFR1, FGFR3, FGFR2
26
Hide members
8.7FGFR3, FGFR1, FGFR2
27
Hide members
8.7FGFR2, FGFR3, FGFR1
288.7FGFR2, FGFR3, FGFR1
29
Hide members
8.7FGFR3, FGFR2, FGFR1
308.7FGFR3, FGFR2, FGFR1
31
Development FGF-family signaling
Hide members
8.7FGFR1, FGFR2, FGFR3
32
Hide members
8.7FGFR2, FGFR1, FGFR3
33
Hide members
8.7FGFR2, FGFR1, FGFR3
34
Hide members
8.7FGFR2, FGFR1, FGFR3
35
Hide members
8.7FGFR1, FGFR2, FGFR3
36
Hide members
8.7FGFR3, FGFR2, FGFR1
37
Hide members
8.7FGFR2, FGFR1, FGFR3
38
Hide members
8.7FGFR1, FGFR2, FGFR3
39
Hide members
8.7FGFR1, FGFR2, FGFR3
408.1FGFR3, TWIST1, FGFR1, FGFR2

Compounds for genes affiliated with Muenke Syndrome

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44Novoseek, 49PharmGKB, 59Tocris Bioscience, 11DrugBank, 28IUPHAR, 24HMDB
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Compounds related to Muenke Syndrome according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1thalidomide44 49 59 1112.5FGFR3, FGFR2
2SU4984119.4FGFR1, FGFR2
3Regorafenib119.3FGFR1, FGFR2
4suramin44 28 1111.1FGFR1, FGFR2
5chondroitin sulfate44 2410.0FGFR2, FGFR1
6su 5402599.0FGFR3, FGFR2, FGFR1
7pd 161570599.0FGFR2, FGFR1, FGFR3
8fiin 1 hydrochloride599.0FGFR2, FGFR1, FGFR3
9su5402449.0FGFR3, FGFR1, FGFR2
10pd 17307444 5910.0FGFR2, FGFR1, FGFR3
11palifermin44 119.9FGFR3, FGFR1, FGFR2
12Ponatinib 118.9FGFR2, FGFR1, FGFR3
13phenylalanine448.9FGFR2, FGFR1, FGFR3
14phosphotyrosine448.9FGFR3, FGFR1, FGFR2
15lysine448.8FGFR3, FGFR1, FGFR2
16paclitaxel44 49 1110.7FGFR2, FGFR1, TWIST1
17oligonucleotide448.4FGFR3, FGFR1, FGFR2
18tyrosine448.1FGFR2, FGFR1, FGFR3, 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
1cytoplasmic membrane-bounded vesicleGO:0160238.7FGFR3, FGFR1, FGFR2

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

(show all 37)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of mitosisGO:0458399.9FGFR2, FGFR3
2lens fiber cell developmentGO:0703079.9FGFR3, FGFR2
3bone morphogenesisGO:0603499.8FGFR3, FGFR2
4positive regulation of canonical Wnt receptor signaling pathwayGO:0902639.6FGFR3, FGFR2
5embryonic cranial skeleton morphogenesisGO:0487019.6TWIST1, FGFR2
6positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:0900809.6FGFR3, FGFR1
7fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:0356079.5FGFR1, FGFR2
8ventricular zone neuroblast divisionGO:0218479.5FGFR1, FGFR2
9mesenchymal cell differentiationGO:0487629.5FGFR2, FGFR1
10lung-associated mesenchyme developmentGO:0604849.5FGFR1, FGFR2
11branching involved in salivary gland morphogenesisGO:0604459.5FGFR1, FGFR2
12positive regulation of cardiac muscle cell proliferationGO:0600459.4FGFR1, FGFR2
13chondrocyte differentiationGO:0020629.4FGFR1, FGFR3
14outer ear morphogenesisGO:0424739.4TWIST1, FGFR1
15positive regulation of cell cycleGO:0457879.4FGFR1, FGFR2
16skeletal system morphogenesisGO:0487059.4FGFR1, FGFR2
17midbrain developmentGO:0309019.4FGFR2, FGFR1
18positive regulation of mesenchymal cell proliferationGO:0020539.3FGFR1, FGFR2
19ureteric bud developmentGO:0016579.3FGFR1, FGFR2
20MAPK cascadeGO:0001659.2FGFR3, FGFR1
21inner ear morphogenesisGO:0424729.2FGFR2, FGFR1
22positive regulation of ERK1 and ERK2 cascadeGO:0703749.2FGFR3, FGFR2
23positive regulation of phospholipase activityGO:0105189.1FGFR3, FGFR1, FGFR2
24peptidyl-tyrosine phosphorylationGO:0181089.1FGFR3, FGFR1, FGFR2
25positive regulation of MAPK cascadeGO:0434109.1FGFR2, FGFR1, FGFR3
26phosphatidylinositol-mediated signalingGO:0480159.0FGFR2, FGFR1, FGFR3
27insulin receptor signaling pathwayGO:0082869.0FGFR2, FGFR1, FGFR3
28neuron migrationGO:0017649.0TWIST1, FGFR1
29protein autophosphorylationGO:0467779.0FGFR3, FGFR1, FGFR2
30fibroblast growth factor receptor signaling pathwayGO:0085439.0FGFR2, FGFR1, FGFR3
31Fc-epsilon receptor signaling pathwayGO:0380959.0FGFR2, FGFR1, FGFR3
32epidermal growth factor receptor signaling pathwayGO:0071739.0FGFR3, FGFR1, FGFR2
33neurotrophin TRK receptor signaling pathwayGO:0480119.0FGFR2, FGFR1, FGFR3
34in utero embryonic developmentGO:0017018.8FGFR2, FGFR1, TWIST1
35positive regulation of cell proliferationGO:0082848.8FGFR2, FGFR1, FGFR3
36innate immune responseGO:0450878.6FGFR2, FGFR1, FGFR3
37negative regulation of transcription from RNA polymerase II promoterGO:0001228.4FGFR2, FGFR1, FGFR3, TWIST1

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:0050078.7FGFR3, FGFR1, FGFR2
2fibroblast growth factor bindingGO:0171348.6FGFR3, FGFR1, FGFR2
3protein homodimerization activityGO:0428038.5TWIST1, FGFR1, FGFR2
4protein tyrosine kinase activityGO:0047138.4FGFR2, FGFR1, FGFR3

Products for genes affiliated with Muenke Syndrome

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Sources for Muenke Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet