MCID: MNK003
MIFTS: 54

Muenke Syndrome malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Muenke Syndrome

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Sources:
49OMIM, 11diseasecard, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 24GTR, 67UniProtKB/Swiss-Prot, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Muenke Syndrome:

Name: Muenke Syndrome 49 11 68 21 45 22 23 47 51 24 67
Fgfr3-Associated Coronal Synostosis 68 23 67
Muenke Nonsyndromic Coronal Craniosynostosis 45 23
Adelaide-Type Craniosynostosis 68 22
Muenke Non-Syndromic Coronal Craniosynostosis 67
 
Fgfr3-Related Isolated Coronal Synostosis 67
Syndrome of Coronal Craniosynostosis 45
Craniosynostosis, Adelaide Type 65
Fgfr3-Related Craniosynostosis 67
Mnks 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
muenke syndrome:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal


External Ids:

OMIM49 602849
Orphanet51 53271
ICD10 via Orphanet28 Q87.0
MESH via Orphanet37 C537369
UMLS via Orphanet66 C1864436
MedGen34 C1864436
MeSH36 D003398

Summaries for Muenke Syndrome

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UniProtKB/Swiss-Prot:67 Muenke syndrome: A condition characterized by premature closure of coronal suture of skull during development (coronal craniosynostosis), which affects the shape of the head and face. It may be uni- or bilateral. When bilateral, it is characterized by a skull with a small antero- posterior diameter (brachycephaly), often with a decrease in the depth of the orbits and hypoplasia of the maxillae. Unilateral closure of the coronal sutures leads to flattening of the orbit on the involved side (plagiocephaly). The intellect is normal. In addition to coronal craniosynostosis some affected individuals show skeletal abnormalities of hands and feet, sensorineural hearing loss, mental retardation and respiratory insufficiency.

MalaCards based summary: Muenke Syndrome, also known as fgfr3-associated coronal synostosis, is related to hypochondroplasia and crouzon syndrome, and has symptoms including abnormality of the palate, malar flattening and hypertelorism. An important gene associated with Muenke Syndrome is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways are Endochondral Ossification and FGFR3 mutant receptor activation. Affiliated tissues include bone, temporal lobe and testes, and related mouse phenotypes are hearing/vestibular/ear and skeleton.

Genetics Home Reference:23 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.

NIH Rare Diseases:45 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

OMIM:49 Muenke syndrome is an autosomal dominant disorder characterized by uni- or bicoronal synostosis, macrocephaly,... (602849) more...

Wikipedia:68 Muenke syndrome, also known as FGFR3-related craniosynostosis, is a human specific condition... more...

GeneReviews summary for muenke

Related Diseases for Muenke Syndrome

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

(show top 50)    (show all 89)
idRelated DiseaseScoreTop Affiliating Genes
1hypochondroplasia29.7FGFR1, FGFR2, FGFR3
2crouzon syndrome29.7FGFR1, FGFR2, FGFR3
3fgfr3-related isolated coronal synostosis10.7
4menkes disease10.5
5craniosynostosis10.5
6fgfr3-related craniosynostosis10.4
7craniosynostosis, adelaide type10.3
8occipital horn syndrome10.3
9brachydactyly10.3
10synostosis10.2
11osteochondroma10.2
12adult syndrome10.1
13craniosynostosis, type 110.1
14craniosynostosis and dental anomalies10.1
15fanconi anemia, complementation group c10.1
16craniosynostosis 310.1
17image syndrome10.1
18child syndrome10.1
19human venous malformation10.1
20pharyngitis10.1
21sensorineural hearing loss10.1
22secondary syphilis10.1
23auditory system disease10.1
24bone development disease10.1
25bone structure disease10.1
26dysostosis10.1
27globe disease10.1
28inner ear disease10.1
29intracranial hypertension10.1
30labyrinthine disease10.1
31middle ear disease10.1
32nose disease10.1
33vein disease10.1
34genetic brain disorders10.1
35head and brain malformations10.1
36hearing disorders and deafness10.1
37hearing problems in children10.1
38deafness and hereditary hearing loss10.1
39deafness craniofacial syndrome10.1
40familial deafness10.1
41hemimegalencephaly10.1
42kid syndrome10.1
43plagiocephaly10.1
44hearing loss/deafness10.1
45prostate cancer10.1
46breast cancer10.1
47leukemia10.1
48neuronitis10.1
49cutaneous t cell lymphoma10.1
50myeloid leukemia10.1

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



Diseases related to muenke syndrome

Symptoms for Muenke Syndrome

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Symptoms by clinical synopsis from OMIM:

602849

Clinical features from OMIM:

602849

Symptoms:

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

HPO human phenotypes related to Muenke Syndrome:

(show all 40)
id Description Frequency HPO Source Accession
1 abnormality of the palate typical (50%) HP:0000174
2 malar flattening typical (50%) HP:0000272
3 hypertelorism typical (50%) HP:0000316
4 sensorineural hearing impairment typical (50%) HP:0000407
5 ptosis typical (50%) HP:0000508
6 proptosis typical (50%) HP:0000520
7 brachydactyly syndrome typical (50%) HP:0001156
8 plagiocephaly typical (50%) HP:0001357
9 short toe typical (50%) HP:0001831
10 increased intracranial pressure typical (50%) HP:0002516
11 synostosis of carpal bones typical (50%) HP:0005048
12 tarsal synostosis typical (50%) HP:0008368
13 cone-shaped epiphysis typical (50%) HP:0010579
14 hydrocephalus occasional (7.5%) HP:0000238
15 macrocephaly occasional (7.5%) HP:0000256
16 cognitive impairment occasional (7.5%) HP:0100543
17 autosomal dominant inheritance HP:0000006
18 high palate HP:0000218
19 brachycephaly HP:0000248
20 macrocephaly HP:0000256
21 malar flattening HP:0000272
22 low anterior hairline HP:0000294
23 hypertelorism HP:0000316
24 sensorineural hearing impairment HP:0000407
25 downslanted palpebral fissures HP:0000494
26 ptosis HP:0000508
27 brachydactyly syndrome HP:0001156
28 capitate-hamate fusion HP:0001241
29 intellectual disability HP:0001249
30 global developmental delay HP:0001263
31 plagiocephaly HP:0001357
32 short middle phalanx of toe HP:0003795
33 coronal craniosynostosis HP:0004440
34 short middle phalanx of finger HP:0005819
35 thimble-shaped middle phalanges of hand HP:0006193
36 radial deviation of finger HP:0009466
37 broad hallux HP:0010055
38 cone-shaped epiphyses of the phalanges of the hand HP:0010230
39 hypoplasia of midface HP:0011800
40 clinodactyly HP:0030084

Drugs & Therapeutics for Muenke Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis)RecruitingNCT00106977
2The Clinical Study of Sex Chromosome VariantsRecruitingNCT01661010

Search NIH Clinical Center for Muenke Syndrome

Genetic Tests for Muenke Syndrome

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Genetic tests related to Muenke Syndrome:

id Genetic test Affiliating Genes
1 Muenke Syndrome22 24 FGFR3

Anatomical Context for Muenke Syndrome

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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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MGI Mouse Phenotypes related to Muenke Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9FGFR1, FGFR2, FGFR3
2MP:00053908.3FGFR1, FGFR2, FGFR3, TWIST1
3MP:00053828.3FGFR1, FGFR2, FGFR3, TWIST1
4MP:00053718.2FGFR1, FGFR2, FGFR3, TWIST1
5MP:00053818.2FGFR1, FGFR2, FGFR3, TWIST1
6MP:00053868.0FGFR1, FGFR2, FGFR3, TWIST1

Publications for Muenke Syndrome

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Articles related to Muenke Syndrome:

(show all 28)
idTitleAuthorsYear
1
Executive Function and Adaptive Behavior in Muenke Syndrome. (26028288)
2015
2
Phenotypic Variability in Two Families of Muenke Syndrome with FGFR3 Mutation. (24705944)
2014
3
Squamosal suture craniosynostosis in Muenke syndrome. (24448525)
2014
4
Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism. (23378035)
2013
5
A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation - case report and review of the literature. (24168007)
2013
6
Genetic rescue of Muenke syndrome model hearing loss reveals prolonged FGF-dependent plasticity in cochlear supporting cell fates. (24145799)
2013
7
Muenke syndrome mutation, FgfR3PA^a8'a8'R, causes TMJ defects. (22622662)
2012
8
Palatal and oral manifestations of Muenke syndrome (FGFR3-related craniosynostosis). (22565872)
2012
9
Phenotype profile of a genetic mouse model for Muenke syndrome. (22872265)
2012
10
Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis. (23044018)
2012
11
Muenke syndrome associated with multiple osteochondromas. (22446440)
2012
12
Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype. (21204234)
2011
13
Prenatal diagnosis of craniosynostosis: sonographic features of Muenke syndrome. (22085076)
2011
14
Coronal synostosis syndrome (Muenke syndrome): the value of genetic testing versus clinical diagnosis. (21233754)
2011
15
Additional phenotypic features of Muenke syndrome in 2 Dutch families. (21403557)
2011
16
The Muenke syndrome mutation (FgfR3P244R) causes cranial base shortening associated with growth plate dysfunction and premature perichondrial ossification in murine basicranial synchondroses. (22016144)
2011
17
Genetic-environmental interaction in a unique case of Muenke syndrome with intracranial hypertension. (21971908)
2011
18
A Korean family with the Muenke syndrome. (20592905)
2010
19
Hearing loss in a mouse model of Muenke syndrome. (18818193)
2009
20
Muenke syndrome with osteochondroma. (19097163)
2009
21
Significant phenotypic variability of Muenke syndrome in identical twins. (19449410)
2009
22
A young patient with polyarthralgia and hearing loss: a case report of Muenke syndrome. (19449001)
2009
23
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. (18000976)
2007
24
Craniofacial morphology in Muenke syndrome. (17414289)
2007
25
Trigonocephaly in Muenke syndrome. (17036334)
2006
26
Muenke syndrome. (14963686)
2004
27
Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia. (12794698)
2003
28
Muenke Syndrome (20301588)
1993

Variations for Muenke Syndrome

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

67
id Symbol AA change Variation ID SNP ID
1FGFR3p.Pro250ArgVAR_004150rs4647924

Clinvar genetic disease variations for Muenke Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR3NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg)single nucleotide variantPathogenicrs4647924GRCh37Chr 4, 1803571: 1803571

Expression for genes affiliated with Muenke Syndrome

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Search GEO for disease gene expression data for Muenke Syndrome.

Pathways for genes affiliated with Muenke Syndrome

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

(show all 30)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4FGFR1, FGFR3
2
Show member pathways
9.1FGFR2, FGFR3
39.1FGFR1, FGFR2
48.6FGFR1, FGFR2, FGFR3
5
Show member pathways
8.6FGFR1, FGFR2, FGFR3
68.6FGFR1, FGFR2, FGFR3
78.6FGFR1, FGFR2, FGFR3
8
Show member pathways
8.6FGFR1, FGFR2, FGFR3
9
Show member pathways
8.6FGFR1, FGFR2, FGFR3
10
Show member pathways
8.6FGFR1, FGFR2, FGFR3
11
Show member pathways
8.6FGFR1, FGFR2, FGFR3
12
Show member pathways
8.6FGFR1, FGFR2, FGFR3
13
Show member pathways
8.6FGFR1, FGFR2, FGFR3
14
Show member pathways
8.6FGFR1, FGFR2, FGFR3
15
Show member pathways
8.6FGFR1, FGFR2, FGFR3
16
Show member pathways
8.6FGFR1, FGFR2, FGFR3
17
Angiogenesis (CST)
Show member pathways
8.6FGFR1, FGFR2, FGFR3
18
Show member pathways
8.6FGFR1, FGFR2, FGFR3
198.6FGFR1, FGFR2, FGFR3
208.6FGFR1, FGFR2, FGFR3
218.6FGFR1, FGFR2, FGFR3
228.6FGFR1, FGFR2, FGFR3
23
Show member pathways
8.6FGFR1, FGFR2, FGFR3
248.6FGFR1, FGFR2, FGFR3
25
Show member pathways
8.6FGFR1, FGFR2, FGFR3
26
Show member pathways
8.6FGFR1, FGFR2, FGFR3
27
Show member pathways
8.6FGFR1, FGFR2, FGFR3
288.6FGFR1, FGFR2, FGFR3
29
Show member pathways
8.6FGFR1, FGFR2, FGFR3
308.0FGFR1, FGFR2, FGFR3, TWIST1

GO Terms for genes affiliated with Muenke Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1cytoplasmic membrane-bounded vesicleGO:00160239.1FGFR1, FGFR2

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

(show all 50)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:009008010.2FGFR1, FGFR3
2outer ear morphogenesisGO:004247310.0FGFR1, TWIST1
3negative regulation of osteoblast differentiationGO:00456689.9FGFR1, TWIST1
4neuron migrationGO:00017649.9FGFR1, TWIST1
5orbitofrontal cortex developmentGO:00217699.9FGFR1, FGFR2
6ventricular zone neuroblast divisionGO:00218479.9FGFR1, FGFR2
7fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:00356079.9FGFR1, FGFR2
8embryonic limb morphogenesisGO:00303269.9FGFR1, TWIST1
9positive regulation of mesenchymal cell proliferationGO:00020539.8FGFR1, FGFR2
10positive regulation of cardiac muscle cell proliferationGO:00600459.8FGFR1, FGFR2
11midbrain developmentGO:00309019.8FGFR1, FGFR2
12lung-associated mesenchyme developmentGO:00604849.8FGFR1, FGFR2
13lens fiber cell developmentGO:00703079.8FGFR2, FGFR3
14negative regulation of mitotic nuclear divisionGO:00458399.8FGFR2, FGFR3
15positive regulation of cell cycleGO:00457879.8FGFR1, FGFR2
16mesenchymal cell differentiationGO:00487629.8FGFR1, FGFR2
17branching involved in salivary gland morphogenesisGO:00604459.8FGFR1, FGFR2
18chondrocyte differentiationGO:00020629.7FGFR1, FGFR3
19ureteric bud developmentGO:00016579.7FGFR1, FGFR2
20odontogenesisGO:00424769.7FGFR2, TWIST1
21positive regulation of canonical Wnt signaling pathwayGO:00902639.7FGFR2, FGFR3
22positive regulation of epithelial cell proliferationGO:00506799.7FGFR2, TWIST1
23bone morphogenesisGO:00603499.6FGFR2, FGFR3
24lung developmentGO:00303249.6FGFR1, FGFR2
25bone mineralizationGO:00302829.5FGFR2, FGFR3
26embryonic cranial skeleton morphogenesisGO:00487019.5FGFR2, TWIST1
27inner ear morphogenesisGO:00424729.4FGFR1, FGFR2
28skeletal system morphogenesisGO:00487059.4FGFR1, FGFR2
29bone developmentGO:00603489.3FGFR2, TWIST1
30positive regulation of MAPK cascadeGO:00434109.2FGFR1, FGFR2, FGFR3
31phosphatidylinositol-mediated signalingGO:00480159.2FGFR1, FGFR2, FGFR3
32positive regulation of phospholipase activityGO:00105189.2FGFR1, FGFR2, FGFR3
33protein autophosphorylationGO:00467779.1FGFR1, FGFR2, FGFR3
34positive regulation of cell proliferationGO:00082849.1FGFR1, FGFR2, FGFR3
35protein phosphorylationGO:00064689.0FGFR1, FGFR2, FGFR3
36in utero embryonic developmentGO:00017019.0FGFR1, FGFR2, TWIST1
37peptidyl-tyrosine phosphorylationGO:00181089.0FGFR1, FGFR2, FGFR3
38MAPK cascadeGO:00001659.0FGFR1, FGFR2, FGFR3
39activation of MAPKK activityGO:00001869.0FGFR1, FGFR2, FGFR3
40Ras protein signal transductionGO:00072659.0FGFR1, FGFR2, FGFR3
41insulin receptor signaling pathwayGO:00082869.0FGFR1, FGFR2, FGFR3
42fibroblast growth factor receptor signaling pathwayGO:00085439.0FGFR1, FGFR2, FGFR3
43Fc-epsilon receptor signaling pathwayGO:00380959.0FGFR1, FGFR2, FGFR3
44neurotrophin TRK receptor signaling pathwayGO:00480118.9FGFR1, FGFR2, FGFR3
45epidermal growth factor receptor signaling pathwayGO:00071738.8FGFR1, FGFR2, FGFR3
46axon guidanceGO:00074118.7FGFR1, FGFR2, FGFR3
47innate immune responseGO:00450878.6FGFR1, FGFR2, FGFR3
48vascular endothelial growth factor receptor signaling pathwayGO:00480108.5FGFR1, FGFR2, FGFR3
49small GTPase mediated signal transductionGO:00072648.3FGFR1, FGFR2, FGFR3
50negative regulation of transcription from RNA polymerase II promoterGO:00001228.0FGFR1, FGFR2, FGFR3, TWIST1

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00050079.2FGFR1, FGFR2, FGFR3
2fibroblast growth factor bindingGO:00171349.2FGFR1, FGFR2, FGFR3
3protein kinase activityGO:00046728.7FGFR1, FGFR2, FGFR3
4protein tyrosine kinase activityGO:00047138.6FGFR1, FGFR2, FGFR3
5protein homodimerization activityGO:00428038.5FGFR1, FGFR2, TWIST1

Sources for Muenke Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet