MCID: MNK003
MIFTS: 55

Muenke Syndrome malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Muenke Syndrome

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Sources:
11Disease Ontology, 12diseasecard, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
See all MalaCards sources

Aliases & Descriptions for Muenke Syndrome:

Name: Muenke Syndrome 51 11 70 23 47 24 25 53 69 26 12 49 38 67
Fgfr3-Related Craniosynostosis 11 24 69
Muenke Nonsyndromic Coronal Craniosynostosis 47 25
Syndrome of Coronal Craniosynostosis 47 26
Fgfr3-Associated Coronal Synostosis 25 69
 
Muenke Non-Syndromic Coronal Craniosynostosis 69
Fgfr3-Related Isolated Coronal Synostosis 69
Craniosynostosis, Adelaide Type 67
Adelaide-Type Craniosynostosis 24
Mnks 69

Characteristics:

Orphanet epidemiological data:

53
muenke syndrome:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

63
muenke syndrome:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
Penetrance: penetrance is reduced. in a familial study of seven affected individuals, six of eight individuals had coronal synostosis and two of eight were phenotypically normal [moko & blandin de chalain 2001], yielding a penetrance of approximately 75% for that family...


Classifications:



External Ids:

OMIM51 602849
Disease Ontology11 DOID:0060703
ICD1029 Q87.0
Orphanet53 ORPHA53271
MESH via Orphanet39 C537369
UMLS via Orphanet68 C1864436
ICD10 via Orphanet30 Q87.0
MedGen36 C1864436
UMLS67 C1864436

Summaries for Muenke Syndrome

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UniProtKB/Swiss-Prot:69 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-related craniosynostosis, is related to hypochondroplasia and fgfr3-related isolated coronal synostosis, 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 Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and Endochondral Ossification. Affiliated tissues include bone, skin and temporal lobe, and related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Disease Ontology:11 A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has material basis in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3.

Genetics Home Reference:25 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:47 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:51 Muenke syndrome is an autosomal dominant disorder characterized by uni- or bicoronal synostosis, macrocephaly,... (602849) more...

Wikipedia:70 Muenke syndrome, also known as FGFR3-related craniosynostosis, is a human specific condition... more...

GeneReviews for NBK1415

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 52)
idRelated DiseaseScoreTop Affiliating Genes
1hypochondroplasia28.6FGFR1, FGFR2, FGFR3
2fgfr3-related isolated coronal synostosis12.3
3menkes disease11.9
4craniosynostosis, adelaide type11.1
5nasodigitoacoustic syndrome10.9
6craniosynostosis10.1
7osteopetrosis and infantile neuroaxonal dystrophy10.0FGFR1, FGFR3
8staphylococcal scarlet fever10.0FGFR3, TWIST1
9syphilitic myelopathy10.0FGFR1, FGFR3
10occipital horn syndrome9.9
11grade iii astrocytoma9.9FGFR1, FGFR3
12prostate cancer9.9
13prostatitis9.9
14osteochondroma9.8
15pfn1-related amyotrophic lateral sclerosis9.8FGFR1, FGFR2
16mite infestation9.8FGFR2, FGFR3
17apert syndrome9.8FGFR2, FGFR3
18uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis9.8FGFR1, FGFR2
19accommodative esotropia9.8FGFR2, FGFR3
20crouzon syndrome with acanthosis nigricans9.7FGFR2, FGFR3
21breast cancer9.7
22leukemia9.7
23lymphoma9.7
24cutaneous t cell lymphoma9.7
25neuronitis9.7
26myeloid leukemia9.7
27hydrocephalus9.7
28synostosis9.7
29epilepsy9.7
30intracranial hypertension9.7
31hemimegalencephaly9.7
32glaucomatocyclitic crisis9.7FGFR2, FGFR3
33scleredema adultorum9.6FGFR2, FGFR3
34myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency9.5FGFR1, FGFR2
35glycogen storage disease ix9.5FGFR1, FGFR2
36adult astrocytic tumour9.5FGFR1, FGFR3, TWIST1
37serous conjunctivitis except viral9.5FGFR2, FGFR3
38flnb-related disorders9.4FGFR1, FGFR2, FGFR3
39trigonocephaly 19.4FGFR1, FGFR2, FGFR3
40hypogonadotropic hypogonadism 2 with or without anosmia9.4FGFR1, FGFR2, FGFR3
41thanatophoric dysplasia, type i9.4FGFR1, FGFR2, FGFR3
42antley-bixler syndrome without genital anomalies or disordered steroidogenesis9.4FGFR1, FGFR2, FGFR3
43beare-stevenson cutis gyrata syndrome9.4FGFR1, FGFR2, FGFR3
44thanatophoric dysplasia, type ii9.4FGFR1, FGFR2, FGFR3
45y-linked disease9.3FGFR2, FGFR3
46plasmalogens synthesis deficiency isolated8.9FGFR1, FGFR2, FGFR3, TWIST1
47bladder cancer, somatic8.9FGFR1, FGFR2, FGFR3, TWIST1
48central nervous system leukemia8.9FGFR1, FGFR2, FGFR3, TWIST1
49ischemic bone disease8.9FGFR1, FGFR2, FGFR3, TWIST1
50craniosynostosis, type 18.9FGFR1, FGFR2, FGFR3, TWIST1

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

Human phenotypes related to Muenke Syndrome:

 63 53 (show all 39)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the palate63 typical (50%) HP:0000174
2 malar flattening63 53 typical (50%) Frequent (79-30%) HP:0000272
3 hypertelorism63 53 typical (50%) Frequent (79-30%) HP:0000316
4 sensorineural hearing impairment63 53 typical (50%) Frequent (79-30%) HP:0000407
5 ptosis63 53 typical (50%) Frequent (79-30%) HP:0000508
6 proptosis63 53 typical (50%) Frequent (79-30%) HP:0000520
7 brachydactyly syndrome63 typical (50%) HP:0001156
8 plagiocephaly63 53 typical (50%) Frequent (79-30%) HP:0001357
9 short toe63 typical (50%) HP:0001831
10 increased intracranial pressure63 53 typical (50%) Frequent (79-30%) HP:0002516
11 synostosis of carpal bones63 typical (50%) HP:0005048
12 tarsal synostosis63 53 typical (50%) Frequent (79-30%) HP:0008368
13 cone-shaped epiphysis63 53 typical (50%) Frequent (79-30%) HP:0010579
14 hydrocephalus63 53 occasional (7.5%) Occasional (29-5%) HP:0000238
15 macrocephaly63 53 occasional (7.5%) Occasional (29-5%) HP:0000256
16 cognitive impairment63 occasional (7.5%) HP:0100543
17 high palate63 HP:0000218
18 brachycephaly63 53 Frequent (79-30%) HP:0000248
19 low anterior hairline63 HP:0000294
20 downslanted palpebral fissures63 HP:0000494
21 capitate-hamate fusion63 HP:0001241
22 intellectual disability63 HP:0001249
23 global developmental delay63 53 Occasional (29-5%) HP:0001263
24 short middle phalanx of toe63 HP:0003795
25 coronal craniosynostosis63 53 Frequent (79-30%) HP:0004440
26 short middle phalanx of finger63 HP:0005819
27 thimble-shaped middle phalanges of hand63 HP:0006193
28 radial deviation of finger63 HP:0009466
29 broad hallux63 HP:0010055
30 cone-shaped epiphyses of the phalanges of the hand63 HP:0010230
31 midface retrusion63 HP:0011800
32 clinodactyly63 HP:0030084
33 hypermelanotic macule53 Occasional (29-5%)
34 hypopigmented skin patches53 Occasional (29-5%)
35 short foot53 Frequent (79-30%)
36 high, narrow palate53 Frequent (79-30%)
37 short palm53 Frequent (79-30%)
38 hypopigmentation of hair53 Occasional (29-5%)
39 carpal synostosis53 Frequent (79-30%)

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


Cochrane evidence based reviews: muenke syndrome

Genetic Tests for Muenke Syndrome

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Genetic tests related to Muenke Syndrome:

id Genetic test Affiliating Genes
1 Muenke Syndrome26 24 FGFR3
2 Coronal Craniosynostosis26
3 Fgfr3-Related Craniosynostosis24 FGFR3

Anatomical Context for Muenke Syndrome

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MalaCards organs/tissues related to Muenke Syndrome:

35
Bone, Skin, Temporal lobe, Testes

Animal Models for Muenke Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Muenke Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.4FGFR1, FGFR2, FGFR3
2MP:00053828.8FGFR1, FGFR2, FGFR3, TWIST1
3MP:00053818.8FGFR1, FGFR2, FGFR3, TWIST1
4MP:00053718.7FGFR1, FGFR2, FGFR3, TWIST1
5MP:00053908.0FGFR1, FGFR2, FGFR3, TWIST1

Publications for Muenke Syndrome

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Articles related to Muenke Syndrome:

(show all 31)
idTitleAuthorsYear
1
Assessing the midface in Muenke syndrome: A cephalometric analysis and review of the literature. (27449747)
2016
2
Expansion of the variable expression of Muenke syndrome: Hydrocephalus without craniosynostosis. (27568649)
2016
3
Muenke syndrome: An international multicenter natural history study. (26740388)
2016
4
Executive Function and Adaptive Behavior in Muenke Syndrome. (26028288)
2015
5
Phenotypic Variability in Two Families of Muenke Syndrome with FGFR3 Mutation. (24705944)
2014
6
Squamosal suture craniosynostosis in Muenke syndrome. (24448525)
2014
7
Genetic rescue of Muenke syndrome model hearing loss reveals prolonged FGF-dependent plasticity in cochlear supporting cell fates. (24145799)
2013
8
Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism. (23378035)
2013
9
A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation - case report and review of the literature. (24168007)
2013
10
Muenke syndrome mutation, FgfR3PA^a8'a8'R, causes TMJ defects. (22622662)
2012
11
Palatal and oral manifestations of Muenke syndrome (FGFR3-related craniosynostosis). (22565872)
2012
12
Phenotype profile of a genetic mouse model for Muenke syndrome. (22872265)
2012
13
Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis. (23044018)
2012
14
Muenke syndrome associated with multiple osteochondromas. (22446440)
2012
15
Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype. (21204234)
2011
16
Prenatal diagnosis of craniosynostosis: sonographic features of Muenke syndrome. (22085076)
2011
17
Coronal synostosis syndrome (Muenke syndrome): the value of genetic testing versus clinical diagnosis. (21233754)
2011
18
Additional phenotypic features of Muenke syndrome in 2 Dutch families. (21403557)
2011
19
The Muenke syndrome mutation (FgfR3P244R) causes cranial base shortening associated with growth plate dysfunction and premature perichondrial ossification in murine basicranial synchondroses. (22016144)
2011
20
Genetic-environmental interaction in a unique case of Muenke syndrome with intracranial hypertension. (21971908)
2011
21
A Korean family with the Muenke syndrome. (20592905)
2010
22
Muenke syndrome with osteochondroma. (19097163)
2009
23
A young patient with polyarthralgia and hearing loss: a case report of Muenke syndrome. (19449001)
2009
24
Hearing loss in a mouse model of Muenke syndrome. (18818193)
2009
25
Significant phenotypic variability of Muenke syndrome in identical twins. (19449410)
2009
26
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. (18000976)
2007
27
Craniofacial morphology in Muenke syndrome. (17414289)
2007
28
Trigonocephaly in Muenke syndrome. (17036334)
2006
29
Muenke syndrome. (14963686)
2004
30
Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia. (12794698)
2003
31
Muenke Syndrome (20301588)
1993

Variations for Muenke Syndrome

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

69
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)SNVPathogenicrs4647924GRCh37Chr 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 pathwaysScoreTop Affiliating Genes
19.4FGFR1, FGFR3
29.4FGFR1, FGFR3
39.1FGFR1, FGFR2
48.6FGFR1, FGFR2, FGFR3
5
Show member pathways
8.6FGFR1, FGFR2, FGFR3
6
Show member pathways
8.6FGFR1, FGFR2, FGFR3
7
Show member pathways
8.6FGFR1, FGFR2, FGFR3
88.6FGFR1, 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
148.6FGFR1, FGFR2, FGFR3
15
Show member pathways
8.6FGFR1, FGFR2, FGFR3
16
Show member pathways
8.6FGFR1, FGFR2, FGFR3
178.6FGFR1, FGFR2, FGFR3
188.6FGFR1, FGFR2, FGFR3
19
Show member pathways
8.6FGFR1, FGFR2, FGFR3
208.6FGFR1, FGFR2, FGFR3
218.6FGFR1, FGFR2, FGFR3
228.6FGFR1, FGFR2, FGFR3
238.6FGFR1, FGFR2, FGFR3
24
Show member pathways
8.6FGFR1, FGFR2, FGFR3
25
Show member pathways
8.6FGFR1, FGFR2, FGFR3
268.6FGFR1, FGFR2, FGFR3
27
Show member pathways
8.6FGFR1, FGFR2, FGFR3
28
Show member pathways
8.6FGFR1, 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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Biological processes related to Muenke Syndrome according to GeneCards Suite gene sharing:

(show all 40)
idNameGO IDScoreTop Affiliating Genes
1outer ear morphogenesisGO:004247310.0FGFR1, TWIST1
2chondrocyte differentiationGO:000206210.0FGFR1, FGFR3
3negative regulation of osteoblast differentiationGO:00456689.9FGFR1, TWIST1
4fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:00356079.9FGFR1, FGFR2
5skeletal system developmentGO:00015019.8FGFR1, FGFR3
6mesenchymal cell differentiationGO:00487629.8FGFR1, FGFR2
7embryonic limb morphogenesisGO:00303269.8FGFR1, TWIST1
8positive regulation of cardiac muscle cell proliferationGO:00600459.7FGFR1, FGFR2
9positive regulation of cell cycleGO:00457879.7FGFR1, FGFR2
10skeletal system morphogenesisGO:00487059.7FGFR1, FGFR2
11bone mineralizationGO:00302829.7FGFR2, FGFR3
12branching involved in salivary gland morphogenesisGO:00604459.7FGFR1, FGFR2
13positive regulation of mesenchymal cell proliferationGO:00020539.7FGFR1, FGFR2
14ventricular zone neuroblast divisionGO:00218479.6FGFR1, FGFR2
15odontogenesisGO:00424769.6FGFR2, TWIST1
16bone developmentGO:00603489.6FGFR2, TWIST1
17ureteric bud developmentGO:00016579.6FGFR1, FGFR2
18bone morphogenesisGO:00603499.6FGFR2, FGFR3
19lung developmentGO:00303249.6FGFR1, FGFR2
20inner ear morphogenesisGO:00424729.6FGFR1, FGFR2
21midbrain developmentGO:00309019.5FGFR1, FGFR2
22embryonic cranial skeleton morphogenesisGO:00487019.5FGFR2, TWIST1
23positive regulation of epithelial cell proliferationGO:00506799.5FGFR2, TWIST1
24neuron migrationGO:00017649.4FGFR1, TWIST1
25lung-associated mesenchyme developmentGO:00604849.4FGFR1, FGFR2
26phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.3FGFR1, FGFR2, FGFR3
27phosphatidylinositol phosphorylationGO:00468549.2FGFR1, FGFR2, FGFR3
28regulation of phosphatidylinositol 3-kinase signalingGO:00140669.2FGFR1, FGFR2, FGFR3
29phosphatidylinositol-mediated signalingGO:00480159.2FGFR1, FGFR2, FGFR3
30fibroblast growth factor receptor signaling pathwayGO:00085439.2FGFR1, FGFR2, FGFR3
31positive regulation of phospholipase activityGO:00105189.2FGFR1, FGFR2, FGFR3
32peptidyl-tyrosine phosphorylationGO:00181089.1FGFR1, FGFR2, FGFR3
33protein autophosphorylationGO:00467779.1FGFR1, FGFR2, FGFR3
34in utero embryonic developmentGO:00017019.0FGFR1, FGFR2, TWIST1
35orbitofrontal cortex developmentGO:00217699.0FGFR1, FGFR2
36positive regulation of MAPK cascadeGO:00434109.0FGFR1, FGFR2, FGFR3
37MAPK cascadeGO:00001658.9FGFR1, FGFR2, FGFR3
38positive regulation of GTPase activityGO:00435478.8FGFR1, FGFR2, FGFR3
39positive regulation of cell proliferationGO:00082848.6FGFR1, FGFR2, FGFR3
40negative regulation of transcription from RNA polymerase II promoterGO:00001228.2FGFR1, FGFR2, TWIST1

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00050079.3FGFR1, FGFR2, FGFR3
21-phosphatidylinositol-3-kinase activityGO:00163039.2FGFR1, FGFR2, FGFR3
3phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.1FGFR1, FGFR2, FGFR3
4fibroblast growth factor bindingGO:00171349.0FGFR1, FGFR2, FGFR3
5protein tyrosine kinase activityGO:00047139.0FGFR1, FGFR2, FGFR3
6Ras guanyl-nucleotide exchange factor activityGO:00050888.8FGFR1, FGFR2, FGFR3
7protein homodimerization activityGO:00428038.5FGFR1, FGFR2, TWIST1

Sources for Muenke Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet