MCID: MNK003
MIFTS: 56

Muenke Syndrome malady

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

Aliases & Classifications for Muenke Syndrome

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Sources:
46OMIM, 9diseasecard, 64Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Muenke Syndrome:

Name: Muenke Syndrome 46 9 64 19 42 20 21 44 48 22
Muenke Nonsyndromic Coronal Craniosynostosis 42 21
Fgfr3-Associated Coronal Synostosis 64 21
 
Syndrome of Coronal Craniosynostosis 42
Craniosynostosis, Adelaide Type 61
Adelaide-Type Craniosynostosis 64


Classifications:



Characteristics (Orphanet epidemiological data):

48
muenke syndrome:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal


External Ids:

OMIM46 602849
Orphanet48 53271
MESH via Orphanet34 C537369
ICD10 via Orphanet26 Q87.0
UMLS via Orphanet62 C1864436

Summaries for Muenke Syndrome

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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 based summary: Muenke Syndrome, also known as muenke nonsyndromic coronal craniosynostosis, is related to osteochondroma and craniosynostosis, 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 Endocytosis and Endochondral Ossification. The compounds thalidomide and sulfate have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and temporal lobe, 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.

OMIM:46 Muenke syndrome is an autosomal dominant disorder characterized by uni- or bicoronal synostosis, macrocephaly,... (602849) more...

Wikipedia:64 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 all 47)
idRelated DiseaseScoreTop Affiliating Genes
1osteochondroma30.9FGFR3
2craniosynostosis30.0FGFR3, FGFR1, FGFR2, TWIST1
3hypochondroplasia29.9FGFR1, FGFR2, FGFR3
4synostosis29.5FGFR2, FGFR3, TWIST1, FGFR1
5craniosynostosis, adelaide type10.5
6beare-stevenson cutis gyrata syndrome10.4FGFR2
7antley-bixler syndrome10.4FGFR2
8fgfr3-related craniosynostosis10.3
9osteoglophonic dysplasia10.3FGFR1
10brachydactyly10.3
11achondroplasia10.2FGFR3, FGFR2
12ladd syndrome10.2FGFR2, FGFR3
13strabismus10.2FGFR3, FGFR2
14thanatophoric dysplasia, type i10.2FGFR2, FGFR3
15acanthosis nigricans10.2FGFR2, FGFR3
16syndactyly10.1FGFR3, FGFR2
17intracranial hypertension10.1
18hemimegalencephaly10.1
19transitional cell carcinoma10.1FGFR2, FGFR3
20bladder cancer, somatic10.1FGFR3, FGFR2
21pfeiffer syndrome10.0FGFR1, FGFR2
22prostatic hypertrophy10.0FGFR2, FGFR1
23mental retardation10.0TWIST1, FGFR3
24nasopharyngeal carcinoma9.9FGFR1, TWIST1
25skin disease9.9FGFR3, FGFR2
26embryonal cancer9.9FGFR1, FGFR2
27gastric cancer, somatic9.8FGFR2, FGFR3, TWIST1
28crouzon syndrome9.8FGFR2, FGFR1, FGFR3
29jackson-weiss syndrome9.8FGFR2, FGFR1, FGFR3
30fgfr-related craniosynostosis syndromes9.8FGFR3, FGFR1, FGFR2
31apert syndrome9.8FGFR2, FGFR3, FGFR1
32skeletal dysplasia multi-gene panels9.8FGFR2, FGFR1, FGFR3
33dwarfism9.8FGFR2, FGFR1, FGFR3
34tongue squamous cell carcinoma9.8FGFR2, FGFR3, TWIST1
35developmental disabilities9.8FGFR2, FGFR1, FGFR3
36chondrosarcoma9.8FGFR1, FGFR3, FGFR2
37cleft palate, isolated9.8FGFR1, FGFR2, TWIST1
38colorectal cancer9.7FGFR2, FGFR3, FGFR1
39stomach cancer9.7FGFR1, TWIST1, FGFR2
40pancreatic cancer9.7FGFR1, FGFR2, TWIST1
41breast cancer9.7FGFR2, FGFR1, TWIST1
42hepatocellular carcinoma9.7TWIST1, FGFR1, FGFR2
43melanoma9.7FGFR1, FGFR3, FGFR2
44leukemia9.6FGFR3, FGFR2, FGFR1
45acrocephalosyndactylia9.6FGFR2, TWIST1, FGFR3, FGFR1
46saethre-chotzen syndrome9.6FGFR3, FGFR1, TWIST1, FGFR2
47prostate cancer9.5TWIST1, FGFR2, FGFR1, FGFR3

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:

 48 (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 39)
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 capitate-hamate fusion HP:0001241
28 intellectual disability HP:0001249
29 global developmental delay HP:0001263
30 plagiocephaly HP:0001357
31 short middle phalanx of toe HP:0003795
32 coronal craniosynostosis HP:0004440
33 short middle phalanx of finger HP:0005819
34 thimble-shaped middle phalanges of hand HP:0006193
35 radial deviation of finger HP:0009466
36 broad hallux HP:0010055
37 cone-shaped epiphyses of the phalanges of the hand HP:0010230
38 midface retrusion HP:0011800
39 clinodactyly HP:0030084

Drugs & Therapeutics for Muenke Syndrome

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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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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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MalaCards organs/tissues related to Muenke Syndrome:

31
Bone, Testes, Temporal lobe

Animal Models for Muenke Syndrome or affiliated genes

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Publications for Muenke Syndrome

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Articles related to Muenke Syndrome:

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

Variations for Muenke Syndrome

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

63
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 45)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4FGFR3, FGFR2
29.1FGFR1, FGFR3
3
Show member pathways
9.1FGFR3, FGFR1
49.1FGFR2, FGFR1
59.0FGFR1, TWIST1
6
Show member pathways
8.6FGFR3, FGFR1, FGFR2
7
Show member pathways
8.6FGFR2, FGFR1, FGFR3
8
Show member pathways
8.6FGFR1, FGFR3, FGFR2
9
Show member pathways
8.6FGFR3, FGFR2, FGFR1
10
Show member pathways
8.6FGFR1, FGFR2, FGFR3
118.6FGFR1, FGFR2, FGFR3
12
Show member pathways
8.6FGFR3, FGFR1, FGFR2
13
Show member pathways
8.6FGFR3, FGFR2, FGFR1
14
Show member pathways
8.6FGFR3, FGFR2, FGFR1
15
Show member pathways
8.6FGFR1, FGFR3, FGFR2
16
Show member pathways
8.6FGFR2, FGFR3, FGFR1
178.6FGFR3, FGFR2, FGFR1
18
Show member pathways
8.6FGFR3, FGFR1, FGFR2
19
Show member pathways
8.6FGFR3, FGFR1, FGFR2
208.6FGFR2, FGFR1, FGFR3
21
Show member pathways
8.6FGFR2, FGFR3, FGFR1
22
Show member pathways
8.6FGFR3, FGFR2, FGFR1
23
Show member pathways
8.6FGFR3, FGFR1, FGFR2
24
Show member pathways
8.6FGFR2, FGFR3, FGFR1
258.6FGFR2, FGFR1, FGFR3
268.6FGFR3, FGFR1, FGFR2
278.6FGFR1, FGFR2, FGFR3
28
Show member pathways
8.6FGFR3, FGFR1, FGFR2
29
Show member pathways
8.6FGFR3, FGFR2, FGFR1
30
Show member pathways
8.6FGFR3, FGFR1, FGFR2
318.6FGFR3, FGFR1, FGFR2
32
Show member pathways
8.6FGFR2, FGFR1, FGFR3
33
Show member pathways
8.6FGFR1, FGFR2, FGFR3
34
Show member pathways
8.6FGFR3, FGFR1, FGFR2
35
Show member pathways
8.6FGFR3, FGFR2, FGFR1
36
Show member pathways
8.6FGFR3, FGFR1, FGFR2
37
Show member pathways
MAPK signaling pathway36
8.6FGFR3, FGFR1, FGFR2
38
Show member pathways
8.6FGFR2, FGFR1, FGFR3
39
Show member pathways
8.6FGFR3, FGFR2, FGFR1
40
Show member pathways
8.6FGFR2, FGFR3, FGFR1
41
Show member pathways
8.6FGFR1, FGFR2, FGFR3
42
Show member pathways
Signaling Pathways in Glioblastoma36
8.6FGFR3, FGFR1, FGFR2
43
Show member pathways
8.6FGFR2, FGFR1, FGFR3
44
Show member pathways
8.6FGFR3, FGFR1, FGFR2
458.0FGFR3, FGFR1, FGFR2, TWIST1

Compounds for genes affiliated with Muenke Syndrome

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

(show all 31)
idCompoundScoreTop Affiliating Genes
1thalidomide44 50 60 1112.7FGFR2, FGFR3
2sulfate44 2410.6FGFR3, FGFR2
3pazopanib50 1110.5FGFR3, FGFR1
4regorafenib50 1110.5FGFR2, FGFR1
5chondroitin sulfate44 2410.4FGFR2, FGFR1
6suramin44 28 1111.4FGFR2, FGFR1
7bromodeoxyuridine449.3FGFR2, FGFR1
8imatinib44 50 1111.2FGFR1, FGFR3
9heparan sulfate44 2410.2FGFR2, FGFR1
10guanine44 24 1111.1FGFR2, FGFR3
11agar449.1FGFR2, FGFR1
12glyceraldehyde 3-phosphate449.0FGFR1, FGFR2
13su 5402609.0FGFR3, FGFR1, FGFR2
14pd 161570609.0FGFR3, FGFR1, FGFR2
15fiin 1 hydrochloride609.0FGFR2, FGFR1, FGFR3
16su5402449.0FGFR2, FGFR1, FGFR3
17pd 17307444 6010.0FGFR2, FGFR1, FGFR3
18palifermin44 1110.0FGFR2, FGFR3, FGFR1
19ponatinib50 1110.0FGFR1, FGFR3, FGFR2
20phenylalanine449.0FGFR3, FGFR1, FGFR2
21phosphotyrosine449.0FGFR2, FGFR1, FGFR3
22lysine448.9FGFR2, FGFR1, FGFR3
23oligonucleotide448.9FGFR2, FGFR3, FGFR1
24vegf448.9FGFR1, FGFR2, FGFR3
25threonine448.9FGFR3, FGFR1, FGFR2
26glutamate448.9FGFR1, FGFR2, FGFR3
27paclitaxel44 50 1110.9TWIST1, FGFR2, FGFR1
28cysteine448.8FGFR2, FGFR3, FGFR1
29estrogen448.7TWIST1, FGFR1, FGFR2
30lipid448.6FGFR1, FGFR2, FGFR3
31tyrosine448.3FGFR1, FGFR3, FGFR2, 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
1extracellular regionGO:00055768.6FGFR3, FGFR1, FGFR2
2cytoplasmic membrane-bounded vesicleGO:00160238.5FGFR3, FGFR1, FGFR2
3integral component of plasma membraneGO:00058878.3FGFR3, FGFR1, FGFR2

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

(show all 42)
idNameGO IDScoreTop Affiliating Genes
1lens fiber cell developmentGO:00703079.8FGFR2, FGFR3
2negative regulation of mitosisGO:00458399.8FGFR2, FGFR3
3bone morphogenesisGO:00603499.8FGFR2, FGFR3
4negative regulation of epithelial cell proliferationGO:00506809.7FGFR2, FGFR3
5embryonic cranial skeleton morphogenesisGO:00487019.7FGFR2, TWIST1
6odontogenesisGO:00424769.6TWIST1, FGFR2
7positive regulation of canonical Wnt signaling pathwayGO:00902639.6FGFR3, FGFR2
8fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:00356079.6FGFR1, FGFR2
9ventricular zone neuroblast divisionGO:00218479.6FGFR1, FGFR2
10positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:00900809.5FGFR1, FGFR3
11mesenchymal cell differentiationGO:00487629.5FGFR1, FGFR2
12positive regulation of epithelial cell proliferationGO:00506799.5TWIST1, FGFR2
13lung-associated mesenchyme developmentGO:00604849.5FGFR2, FGFR1
14branching involved in salivary gland morphogenesisGO:00604459.5FGFR1, FGFR2
15positive regulation of cardiac muscle cell proliferationGO:00600459.5FGFR2, FGFR1
16skeletal system morphogenesisGO:00487059.5FGFR1, FGFR2
17positive regulation of cell cycleGO:00457879.4FGFR2, FGFR1
18positive regulation of ERK1 and ERK2 cascadeGO:00703749.4FGFR3, FGFR2
19midbrain developmentGO:00309019.4FGFR2, FGFR1
20outer ear morphogenesisGO:00424739.4TWIST1, FGFR1
21positive regulation of mesenchymal cell proliferationGO:00020539.4FGFR2, FGFR1
22chondrocyte differentiationGO:00020629.4FGFR1, FGFR3
23ureteric bud developmentGO:00016579.4FGFR1, FGFR2
24inner ear morphogenesisGO:00424729.3FGFR2, FGFR1
25MAPK cascadeGO:00001659.2FGFR1, FGFR3
26angiogenesisGO:00015259.1FGFR2, FGFR1
27positive regulation of phospholipase activityGO:00105189.0FGFR3, FGFR1, FGFR2
28positive regulation of MAPK cascadeGO:00434109.0FGFR3, FGFR1, FGFR2
29peptidyl-tyrosine phosphorylationGO:00181089.0FGFR3, FGFR2, FGFR1
30phosphatidylinositol-mediated signalingGO:00480159.0FGFR2, FGFR1, FGFR3
31insulin receptor signaling pathwayGO:00082869.0FGFR2, FGFR1, FGFR3
32protein autophosphorylationGO:00467779.0FGFR2, FGFR1, FGFR3
33fibroblast growth factor receptor signaling pathwayGO:00085439.0FGFR2, FGFR1, FGFR3
34Fc-epsilon receptor signaling pathwayGO:00380959.0FGFR2, FGFR1, FGFR3
35epidermal growth factor receptor signaling pathwayGO:00071739.0FGFR3, FGFR1, FGFR2
36neurotrophin TRK receptor signaling pathwayGO:00480119.0FGFR3, FGFR1, FGFR2
37neuron migrationGO:00017648.9TWIST1, FGFR1
38positive regulation of cell proliferationGO:00082848.9FGFR1, FGFR3, FGFR2
39in utero embryonic developmentGO:00017018.9FGFR1, TWIST1, FGFR2
40skeletal system developmentGO:00015018.8FGFR3, FGFR1
41innate immune responseGO:00450878.7FGFR3, FGFR1, FGFR2
42negative regulation of transcription from RNA polymerase II promoterGO:00001228.4FGFR3, TWIST1, FGFR2, FGFR1

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

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:00082018.8FGFR1, FGFR2
2fibroblast growth factor-activated receptor activityGO:00050078.7FGFR3, FGFR1, FGFR2
3fibroblast growth factor bindingGO:00171348.7FGFR3, FGFR1, FGFR2
4protein tyrosine kinase activityGO:00047138.6FGFR2, FGFR1, FGFR3
5ATP bindingGO:00055248.6FGFR3, FGFR1, FGFR2
6protein homodimerization activityGO:00428038.4FGFR1, FGFR2, TWIST1

Sources for Muenke Syndrome

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet