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:
49OMIM, 11diseasecard, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Muenke Syndrome:

Name: Muenke Syndrome 49 11 68 21 45 22 23 47 51 67 24 65
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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
muenke syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 602849
Orphanet51 53271
ICD10 via Orphanet28 Q87.0
MESH via Orphanet37 C537369
UMLS via Orphanet66 C1864436
MedGen34 C1864436
MeSH36 D003398
UMLS65 C1864436, C1833578

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 fgfr3-related isolated coronal synostosis and fgfr3-related craniosynostosis, and has symptoms including cone-shaped epiphysis, tarsal synostosis and synostosis of carpal bones. 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, lung and prostate, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

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 NBK1415

Related Diseases for Muenke Syndrome

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

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 FGFR3

Anatomical Context for Muenke Syndrome

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MalaCards organs/tissues related to Muenke Syndrome:

33
Bone, Lung, Prostate, T cells, Neutrophil

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:00053778.3FGFR1, FGFR2, FGFR3
2MP:00053718.3FGFR1, FGFR2, FGFR3, TWIST1
3MP:00053818.1FGFR1, FGFR2, FGFR3, TWIST1
4MP:00053828.0FGFR1, FGFR2, FGFR3, TWIST1
5MP:00053908.0FGFR1, FGFR2, FGFR3, TWIST1

Publications for Muenke Syndrome

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Articles related to Muenke Syndrome:

(show all 28)
idTitleAuthorsYear
1
Transthoracic echocardiographic assessment of haemodynamics in severe pre-eclampsia and HIV in South Africa. (25891669)
2015
2
A sustained increase in plasma NEFA upregulates the Toll-like receptor network in human muscle. (24337154)
2014
3
Beta-2 microglobulin as a diagnostic parameter in non-Hodgkin lymphoma: a comparative study with FDG-PET. (23898101)
2013
4
A case of transfusion-related acute lung injury induced by anti-human leukocyte antigen antibodies in acute leukemia. (23320011)
2012
5
17I^-estradiol-induced regulation of the novel 5-HT1A-related transcription factors NUDR and Freud-1 in SH SY5Y cells. (22328058)
2012
6
Association analysis of genetic and environmental risk factors in the cuticular drusen subtype of age-related macular degeneration. (22933840)
2012
7
Somatic mutation of PHF6 gene in T-cell acute lymphoblatic leukemia, acute myelogenous leukemia and hepatocellular carcinoma. (21736506)
2012
8
Pleomorphic adenoma of nasal septum: a case report. (20420081)
2010
9
Smoke exposure interacts with ADAM33 polymorphisms in the development of lung function and hyperresponsiveness. (19236319)
2009
10
Catecholamines relax detrusor through beta 2-adrenoceptors in mouse and beta 3-adrenoceptors in man. (18820136)
2009
11
Activity/stability of human pepsin: implications for reflux attributed laryngeal disease. (17417109)
2007
12
Utilization of RNA polymerase I promoter and terminator sequences to develop a DNA transfection system for the study of hepatitis C virus internal ribosomal entry site-dependent translation. (17632032)
2007
13
Interrelationships among chromosome aneuploidy, promoter hypermethylation, and protein expression of the CDKN2A gene in individuals from northern Brazil with gastric adenocarcinoma. (17981214)
2007
14
Biochemical markers of acute pancreatitis. (16567468)
2006
15
P2X receptor ligands and pain. (20144056)
2006
16
Differences between human proteinase 3 and neutrophil elastase and their murine homologues are relevant for murine model experiments. (16182289)
2005
17
Increased risk of prostate cancer and benign prostatic hyperplasia associated with transforming growth factor-beta 1 gene polymorphism at codon10. (14604900)
2004
18
The High-Ethanol Preferring rat as a model to study the shift between alcohol abuse and dependence. (15541422)
2004
19
Prostaglandin E2 is an enhancer of interleukin-1beta-induced expression of membrane-associated prostaglandin E synthase in rheumatoid synovial fibroblasts. (14558087)
2003
20
A case of limb-body wall complex diagnosed in utero. (12865119)
2003
21
Cyclooxygenase-2 overexpression is a marker of poor prognosis in stage I non-small cell lung cancer. (11309334)
2001
22
Selection of transduced CD34+ progenitors and enzymatic correction of cells from Gaucher patients, with bicistronic vectors. (8618847)
1995
23
Molecular cloning of a human transmembrane-type protein tyrosine phosphatase and its expression in gastrointestinal cancers. (8294459)
1994
24
Are the associations between Alzheimer's disease and polymorphisms in the apolipoprotein E and the apolipoprotein CII genes due to linkage disequilibrium? (8024269)
1994
25
Assignment of the zeta-crystallin gene (CRYZ) to human chromosome 1p22-p31 and identification of restriction fragment length polymorphisms. (7835889)
1994
26
Neurons and neuroblastoma as a source of macrophage colony-stimulating factor. (1396961)
1992
27
Contribution of the known subcellular effects of anesthetics to their negative inotropic effect in intact myocardium. (1763690)
1991
28

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 29)
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
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
148.6FGFR1, FGFR2, FGFR3
15
Show member pathways
8.6FGFR1, FGFR2, FGFR3
168.6FGFR1, FGFR2, FGFR3
17
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
22
Show member pathways
8.6FGFR1, FGFR2, FGFR3
23
Show member pathways
8.6FGFR1, FGFR2, FGFR3
24
Show member pathways
8.6FGFR1, 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
28
Show member pathways
8.6FGFR1, FGFR2, FGFR3
298.0FGFR1, 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 34)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:00356079.9FGFR1, FGFR2
2lung-associated mesenchyme developmentGO:00604849.8FGFR1, FGFR2
3positive regulation of cell cycleGO:00457879.7FGFR1, FGFR2
4positive regulation of mesenchymal cell proliferationGO:00020539.7FGFR1, FGFR2
5positive regulation of cardiac muscle cell proliferationGO:00600459.7FGFR1, FGFR2
6neuron migrationGO:00017649.7FGFR1, TWIST1
7positive regulation of MAPK cascadeGO:00434109.6FGFR2, FGFR3
8skeletal system morphogenesisGO:00487059.6FGFR1, FGFR2
9bone developmentGO:00603489.6FGFR2, TWIST1
10branching involved in salivary gland morphogenesisGO:00604459.6FGFR1, FGFR2
11positive regulation of ERK1 and ERK2 cascadeGO:00703749.5FGFR2, FGFR3
12odontogenesisGO:00424769.5FGFR2, TWIST1
13embryonic cranial skeleton morphogenesisGO:00487019.5FGFR2, TWIST1
14in utero embryonic developmentGO:00017019.5FGFR2, TWIST1
15bone morphogenesisGO:00603499.5FGFR2, FGFR3
16bone mineralizationGO:00302829.5FGFR2, FGFR3
17embryonic limb morphogenesisGO:00303269.3FGFR1, TWIST1
18positive regulation of phospholipase activityGO:00105189.3FGFR1, FGFR2, FGFR3
19lung developmentGO:00303249.2FGFR1, FGFR2
20regulation of phosphatidylinositol 3-kinase signalingGO:00140669.2FGFR1, FGFR2, FGFR3
21phosphatidylinositol-mediated signalingGO:00480159.2FGFR1, FGFR2, FGFR3
22phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.2FGFR1, FGFR2, FGFR3
23orbitofrontal cortex developmentGO:00217699.1FGFR1, FGFR2
24epidermal growth factor receptor signaling pathwayGO:00071739.1FGFR1, FGFR2, FGFR3
25protein autophosphorylationGO:00467779.1FGFR1, FGFR2, FGFR3
26fibroblast growth factor receptor signaling pathwayGO:00085439.1FGFR1, FGFR2, FGFR3
27Ras protein signal transductionGO:00072659.0FGFR1, FGFR2, FGFR3
28MAPK cascadeGO:00001659.0FGFR1, FGFR2, FGFR3
29vascular endothelial growth factor receptor signaling pathwayGO:00480108.9FGFR1, FGFR2, FGFR3
30insulin receptor signaling pathwayGO:00082868.9FGFR1, FGFR2, FGFR3
31axon guidanceGO:00074118.7FGFR1, FGFR2, FGFR3
32negative regulation of transcription from RNA polymerase II promoterGO:00001228.7FGFR1, FGFR2, TWIST1
33neurotrophin TRK receptor signaling pathwayGO:00480118.5FGFR1, FGFR2, FGFR3
34innate immune responseGO:00450878.3FGFR1, FGFR2, FGFR3

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

idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00050079.6FGFR2, FGFR3
2protein tyrosine kinase activityGO:00047138.6FGFR1, FGFR2, FGFR3

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