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:
50OMIM, 69Wikipedia, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Muenke Syndrome:

Name: Muenke Syndrome 50 69 22 46 23 24 52 68 25 12 48 66
Muenke Nonsyndromic Coronal Craniosynostosis 46 24
Syndrome of Coronal Craniosynostosis 46 25
Fgfr3-Associated Coronal Synostosis 24 68
Muenke Non-Syndromic Coronal Craniosynostosis 68
 
Fgfr3-Related Isolated Coronal Synostosis 68
Craniosynostosis, Adelaide Type 66
Adelaide-Type Craniosynostosis 23
Fgfr3-Related Craniosynostosis 68
Mnks 68

Characteristics:

Orphanet epidemiological data:

52
muenke syndrome:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

62
muenke syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 602849
Orphanet52 ORPHA53271
ICD10 via Orphanet29 Q87.0
MESH via Orphanet38 C537369
UMLS via Orphanet67 C1864436
MedGen35 C1864436
MeSH37 D003398

Summaries for Muenke Syndrome

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UniProtKB/Swiss-Prot:68 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 muenke nonsyndromic coronal 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.

NIH Rare Diseases:46 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

Genetics Home Reference:24 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:50 Muenke syndrome is an autosomal dominant disorder characterized by uni- or bicoronal synostosis, macrocephaly,... (602849) more...

Wikipedia:69 Muenke syndrome, also known as FGFR3-related craniosynostosis, is a human specific condition... more...

GeneReviews summary 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 56)
idRelated DiseaseScoreTop Affiliating Genes
1hypochondroplasia28.7FGFR1, FGFR2, FGFR3
2fgfr3-related isolated coronal synostosis12.4
3menkes disease11.8
4craniosynostosis, adelaide type11.2
5craniosynostosis10.2
6occipital horn syndrome10.1
7osteopetrosis and infantile neuroaxonal dystrophy10.1FGFR1, FGFR3
8syphilitic myelopathy10.0FGFR1, FGFR3
9fgfr3-related craniosynostosis10.0
10staphylococcal scarlet fever10.0FGFR3, TWIST1
11nasodigitoacoustic syndrome10.0
12prostate cancer10.0
13prostatitis10.0
14osteochondroma10.0
15grade iii astrocytoma9.9FGFR1, FGFR3
16breast cancer9.8
17leukemia9.8
18lymphoma9.8
19cutaneous t cell lymphoma9.8
20neuronitis9.8
21myeloid leukemia9.8
22pfn1-related amyotrophic lateral sclerosis9.8FGFR1, FGFR2
23mite infestation9.8FGFR2, FGFR3
24apert syndrome9.8FGFR2, FGFR3
25hydrocephalus9.8
26synostosis9.8
27epilepsy9.8
28intracranial hypertension9.8
29hemimegalencephaly9.8
30uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis9.8FGFR1, FGFR2
31accommodative esotropia9.8FGFR2, FGFR3
32crouzon syndrome with acanthosis nigricans9.7FGFR2, FGFR3
33weill-marchesani syndrome9.7FGFR1, FGFR2
34glaucomatocyclitic crisis9.7FGFR2, FGFR3
35scleredema adultorum9.7FGFR2, FGFR3
36progeria9.6FGFR1, FGFR2
37adult astrocytic tumour9.5FGFR1, FGFR3, TWIST1
38myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency9.5FGFR1, FGFR2
39glycogen storage disease ix9.5FGFR1, FGFR2
40serous conjunctivitis except viral9.4FGFR2, FGFR3
41flnb-related disorders9.4FGFR1, FGFR2, FGFR3
42trigonocephaly 19.4FGFR1, FGFR2, FGFR3
43hypogonadotropic hypogonadism 2 with or without anosmia9.4FGFR1, FGFR2, FGFR3
44thanatophoric dysplasia, type i9.4FGFR1, FGFR2, FGFR3
45antley-bixler syndrome without genital anomalies or disordered steroidogenesis9.4FGFR1, FGFR2, FGFR3
46beare-stevenson cutis gyrata syndrome9.4FGFR1, FGFR2, FGFR3
47thanatophoric dysplasia, type ii9.3FGFR1, FGFR2, FGFR3
48y-linked disease9.2FGFR2, FGFR3
49plasmalogens synthesis deficiency isolated8.8FGFR1, FGFR2, FGFR3, TWIST1
50bladder cancer, somatic8.8FGFR1, 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

Symptoms:

 52 (show all 21)
  • hydrocephalus
  • brachycephaly
  • macrocephaly
  • malar flattening
  • hypertelorism
  • sensorineural hearing impairment
  • ptosis
  • proptosis
  • hypermelanotic macule
  • hypopigmented skin patches
  • global developmental delay
  • plagiocephaly
  • short foot
  • increased intracranial pressure
  • high, narrow palate
  • short palm
  • coronal craniosynostosis
  • hypopigmentation of hair
  • tarsal synostosis
  • carpal synostosis
  • cone-shaped epiphysis

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 high palate HP:0000218
18 brachycephaly HP:0000248
19 macrocephaly HP:0000256
20 malar flattening HP:0000272
21 low anterior hairline HP:0000294
22 hypertelorism HP:0000316
23 sensorineural hearing impairment HP:0000407
24 downslanted palpebral fissures HP:0000494
25 ptosis HP:0000508
26 brachydactyly syndrome HP:0001156
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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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 Syndrome25 23 FGFR3
2 Coronal Craniosynostosis25

Anatomical Context for Muenke Syndrome

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MalaCards organs/tissues related to Muenke Syndrome:

34
Bone, Skin, Temporal lobe, Testes

Animal Models for Muenke Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Muenke Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.9FGFR1, FGFR2, FGFR3
2MP:00053828.2FGFR1, FGFR2, FGFR3, TWIST1
3MP:00053818.1FGFR1, FGFR2, FGFR3, TWIST1
4MP:00053908.0FGFR1, FGFR2, FGFR3, TWIST1
5MP:00053717.7FGFR1, 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:

68
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 33)
idSuper pathwaysScoreTop Affiliating Genes
19.4FGFR1, FGFR3
29.4FGFR1, FGFR3
39.1FGFR1, FGFR2
4
Show member pathways
8.6FGFR1, FGFR2, FGFR3
58.6FGFR1, FGFR2, FGFR3
68.6FGFR1, 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
14
Show member pathways
8.6FGFR1, FGFR2, FGFR3
15
Show member pathways
8.6FGFR1, FGFR2, FGFR3
16
Show member pathways
8.6FGFR1, FGFR2, FGFR3
178.6FGFR1, FGFR2, FGFR3
18
Show member pathways
8.6FGFR1, FGFR2, FGFR3
198.6FGFR1, FGFR2, FGFR3
208.6FGFR1, FGFR2, FGFR3
21
Show member pathways
8.6FGFR1, FGFR2, FGFR3
228.6FGFR1, FGFR2, FGFR3
238.6FGFR1, FGFR2, FGFR3
248.6FGFR1, FGFR2, FGFR3
258.6FGFR1, FGFR2, FGFR3
26
Show member pathways
8.6FGFR1, 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
30
Show member pathways
8.6FGFR1, FGFR2, FGFR3
31
Show member pathways
8.6FGFR1, FGFR2, FGFR3
32
Show member pathways
8.6FGFR1, FGFR2, FGFR3
338.0FGFR1, 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 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
7positive regulation of cardiac muscle cell proliferationGO:00600459.8FGFR1, FGFR2
8positive regulation of cell cycleGO:00457879.7FGFR1, FGFR2
9skeletal system morphogenesisGO:00487059.7FGFR1, FGFR2
10embryonic limb morphogenesisGO:00303269.7FGFR1, TWIST1
11branching involved in salivary gland morphogenesisGO:00604459.7FGFR1, FGFR2
12positive regulation of mesenchymal cell proliferationGO:00020539.7FGFR1, FGFR2
13ventricular zone neuroblast divisionGO:00218479.7FGFR1, FGFR2
14bone developmentGO:00603489.6FGFR2, TWIST1
15odontogenesisGO:00424769.6FGFR2, TWIST1
16midbrain developmentGO:00309019.6FGFR1, FGFR2
17bone mineralizationGO:00302829.6FGFR2, FGFR3
18lung developmentGO:00303249.6FGFR1, FGFR2
19ureteric bud developmentGO:00016579.6FGFR1, FGFR2
20bone morphogenesisGO:00603499.5FGFR2, FGFR3
21inner ear morphogenesisGO:00424729.5FGFR1, FGFR2
22embryonic cranial skeleton morphogenesisGO:00487019.5FGFR2, TWIST1
23positive regulation of epithelial cell proliferationGO:00506799.4FGFR2, TWIST1
24neuron migrationGO:00017649.3FGFR1, TWIST1
25lung-associated mesenchyme developmentGO:00604849.3FGFR1, 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
29orbitofrontal cortex developmentGO:00217699.2FGFR1, FGFR2
30phosphatidylinositol-mediated signalingGO:00480159.2FGFR1, FGFR2, FGFR3
31fibroblast growth factor receptor signaling pathwayGO:00085439.2FGFR1, FGFR2, FGFR3
32positive regulation of phospholipase activityGO:00105189.2FGFR1, FGFR2, FGFR3
33protein autophosphorylationGO:00467779.1FGFR1, FGFR2, FGFR3
34peptidyl-tyrosine phosphorylationGO:00181089.1FGFR1, FGFR2, FGFR3
35in utero embryonic developmentGO:00017019.1FGFR1, FGFR2, TWIST1
36MAPK cascadeGO:00001659.0FGFR1, FGFR2, FGFR3
37positive regulation of MAPK cascadeGO:00434109.0FGFR1, FGFR2, FGFR3
38positive regulation of GTPase activityGO:00435478.7FGFR1, FGFR2, FGFR3
39negative regulation of transcription from RNA polymerase II promoterGO:00001228.4FGFR1, FGFR2, TWIST1
40positive regulation of cell proliferationGO:00082848.3FGFR1, FGFR2, FGFR3

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:00050888.9FGFR1, FGFR2, FGFR3
7protein homodimerization activityGO:00428038.5FGFR1, FGFR2, TWIST1

Sources for Muenke Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet