MNKS
MCID: MNK003
MIFTS: 60

Muenke Syndrome (MNKS) malady

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

Aliases & Classifications for Muenke Syndrome

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Muenke Syndrome:

Name: Muenke Syndrome 52 11 71 23 48 24 25 54 70 27 12 50 39 13 68
Fgfr3-Related Craniosynostosis 11 24 70
Muenke Nonsyndromic Coronal Craniosynostosis 48 25
Syndrome of Coronal Craniosynostosis 48 27
Fgfr3-Associated Coronal Synostosis 25 70
 
Muenke Non-Syndromic Coronal Craniosynostosis 70
Fgfr3-Related Isolated Coronal Synostosis 70
Craniosynostosis, Adelaide Type 68
Adelaide-Type Craniosynostosis 24
Mnks 70

Characteristics:

Orphanet epidemiological data:

54
muenke syndrome:
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal

HPO:

64
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:

OMIM52 602849
Disease Ontology11 DOID:0060703
ICD1030 Q87.0
Orphanet54 ORPHA53271
MESH via Orphanet40 C537369
UMLS via Orphanet69 C1864436
ICD10 via Orphanet31 Q87.0
MedGen37 C1864436

Summaries for Muenke Syndrome

About this section
UniProtKB/Swiss-Prot:70 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 fgfr3-related isolated coronal synostosis and menkes disease, and has symptoms including Array, Array and Array. An important gene associated with Muenke Syndrome is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways are Alzheimers Disease Pathway and FGF signaling pathway. Affiliated tissues include bone, skin and testes, and related mouse phenotypes are Decreased viability and neoplasm.

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:48 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:52 Muenke syndrome is an autosomal dominant disorder characterized by uni- or bicoronal synostosis, macrocephaly,... (602849) more...

Wikipedia:71 Muenke syndrome, also known as FGFR3-related craniosynostosis, is a human specific condition... more...

GeneReviews for NBK1415

Related Diseases for Muenke Syndrome

About this section

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

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1fgfr3-related isolated coronal synostosis12.3
2menkes disease11.9
3craniosynostosis, adelaide type11.1
4nasodigitoacoustic syndrome10.9
5pkp1-related ectodermal dysplasia/skin fragility syndrome10.3FGFR1, FGFR2
6pitx3-related anterior segment mesenchymal dysgenesis10.3FGFR1, FGFR2
7familial porphyria cutanea tarda10.2FGFR1, FGFR2, FGFR3
8hartsfield syndrome10.2FGFR1, FGFR2, FGFR3
9osteoglophonic dysplasia10.2FGFR1, FGFR2, FGFR3
10idiopathic recurrent and disabling cutaneous herpes10.2FGFR3, TWIST1
11crouzon syndrome with acanthosis nigricans10.2FGFR1, FGFR2, FGFR3
12antley-bixler syndrome without genital anomalies or disordered steroidogenesis10.2FGFR2, FGFR3, RAB23
13thanatophoric dysplasia, type i10.2FGFR1, FGFR2, FGFR3
14isolated scaphocephaly10.2FGFR3, TWIST1
15candidiasis, familial, 310.2FGF8, FGFR3
16pointer syndrome10.2FGFR1, FGFR2, FGFR3, TWIST1
17robinow-sorauf syndrome10.2FGFR1, FGFR2, FGFR3, TWIST1
18craniosynostosis10.1
19partial of retinal vein occlusion10.1FGF10, FGF7, FGFR2
20aica-ribosiduria due to atic deficiency10.0AKT3, FGFR2, FGFR3, IHH
21joubert syndrome-310.0FGF13, FGF2
22bone structure disease10.0AKT3, FGFR1, FGFR2, FGFR3, TWIST1
23t cell immunodeficiency primary10.0FGF2, FGF9, FGFR1, FGFR3
24atrophy of testis10.0EFNB1, FGFR1, FGFR2, FGFR3, RAB23, TWIST1
25occipital horn syndrome9.9
26benign essential hypertension9.9FGF10, FGF8, FGFR2
27apert syndrome9.9FGF13, FGF2, FGFR1, FGFR2, FGFR3
28autosomal genetic disease9.8FGFR2, FGFR3, PTCH1
29ovarian epithelial cancer9.8EXT1, FGF2, FGF9, FGFR1, FGFR3
30prostate cancer9.8
31prostatitis9.8
32osteochondroma9.8
33hypogonadotropic hypogonadism 2 with or without anosmia9.7FGF10, FGF7, FGF8, FGFR1, FGFR2, FGFR3
34breast cancer9.7
35leukemia9.7
36lymphoma9.7
37cutaneous t cell lymphoma9.7
38myeloproliferative neoplasm9.7
39neuronitis9.7
40myeloid leukemia9.7
41hypochondroplasia9.7
42hydrocephalus9.7
43synostosis9.7
44epilepsy9.7
45intracranial hypertension9.7
46hemimegalencephaly9.7
47saddan9.6ARID1B, FGF10, FGF7, FGF8, FGF9, FGFR1
48cutaneous leishmaniasis9.5EFNB1, FGF10, FGF2, FGF8, FGFR1, FGFR2
49scaphocephaly, maxillary retrusion, and mental retardation9.4FGF10, FGF2, FGF7, FGF9, FGFR1, FGFR2
50cervical cancer, somatic7.9AKT3, ARID1B, EFNB1, EXT1, FGF1, FGF10

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



Diseases related to muenke syndrome

Symptoms & Phenotypes for Muenke Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

602849

Clinical features from OMIM:

602849

Human phenotypes related to Muenke Syndrome:

 54 64 (show all 35)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus64 54 Occasional (29-5%) HP:0000238
2 brachycephaly64 54 Frequent (79-30%) HP:0000248
3 macrocephaly64 54 Occasional (29-5%) HP:0000256
4 malar flattening64 54 Frequent (79-30%) HP:0000272
5 hypertelorism64 54 Frequent (79-30%) HP:0000316
6 sensorineural hearing impairment64 54 Frequent (79-30%) HP:0000407
7 ptosis64 54 Frequent (79-30%) HP:0000508
8 proptosis64 54 Frequent (79-30%) HP:0000520
9 hypermelanotic macule64 54 Occasional (29-5%) HP:0001034
10 hypopigmented skin patches64 54 Occasional (29-5%) HP:0001053
11 global developmental delay64 54 Occasional (29-5%) HP:0001263
12 plagiocephaly64 54 Frequent (79-30%) HP:0001357
13 short foot64 54 Frequent (79-30%) HP:0001773
14 increased intracranial pressure64 54 Frequent (79-30%) HP:0002516
15 high, narrow palate64 54 Frequent (79-30%) HP:0002705
16 short palm64 54 Frequent (79-30%) HP:0004279
17 coronal craniosynostosis64 54 Frequent (79-30%) HP:0004440
18 hypopigmentation of hair64 54 Occasional (29-5%) HP:0005599
19 tarsal synostosis64 54 Frequent (79-30%) HP:0008368
20 carpal synostosis64 54 Frequent (79-30%) HP:0009702
21 cone-shaped epiphysis64 54 Frequent (79-30%) HP:0010579
22 high palate64 HP:0000218
23 low anterior hairline64 HP:0000294
24 downslanted palpebral fissures64 HP:0000494
25 brachydactyly syndrome64 HP:0001156
26 capitate-hamate fusion64 HP:0001241
27 intellectual disability64 HP:0001249
28 short middle phalanx of toe64 HP:0003795
29 short middle phalanx of finger64 HP:0005819
30 thimble-shaped middle phalanges of hand64 HP:0006193
31 radial deviation of finger64 HP:0009466
32 broad hallux64 HP:0010055
33 cone-shaped epiphyses of the phalanges of the hand64 HP:0010230
34 midface retrusion64 HP:0011800
35 clinodactyly64 HP:0030084

GenomeRNAi Phenotypes related to Muenke Syndrome according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00381-A-17.9AKT3, FGFR1, FGFR3, IHH, MARK3, AKT3

MGI Mouse Phenotypes related to Muenke Syndrome according to GeneCards Suite gene sharing:

41 (show all 25)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.3AKT3, EXT1, FGF2, FGFR2, FGFR3, PTCH1
2MP:00053678.2FGF10, FGF7, FGF8, FGFR1, FGFR2, FGFR3
3MP:00053778.1EFNB1, EXT1, FGF10, FGF2, FGF8, FGF9
4MP:00053888.0EFNB1, FGF10, FGF8, FGF9, FGFR2, FGFR3
5MP:00030127.7EFNB1, EXT1, FGFR1, FGFR2, FGFR3, IHH
6MP:00053807.6EFNB1, EXT1, FGF10, FGF8, FGFR1, FGFR2
7MP:00053827.5EFNB1, EXT1, FGF10, FGF8, FGF9, FGFR1
8MP:00053697.4FGF10, FGF2, FGF8, FGF9, FGFR1, FGFR2
9MP:00053797.4AKT3, EFNB1, FGF10, FGF8, FGF9, FGFR1
10MP:00053877.1AKT3, ARID1B, EFNB1, FGF10, FGF7, FGF8
11MP:00053817.1EFNB1, EXT1, FGF10, FGF8, FGF9, FGFR1
12MP:00107717.1EFNB1, EXT1, FGF10, FGF7, FGF9, FGFR1
13MP:00028737.0AKT3, EXT1, FGF1, FGF10, FGF8, FGF9
14MP:00053717.0EFNB1, EXT1, FGF10, FGF8, FGF9, FGFR1
15MP:00053857.0AKT3, FGF10, FGF2, FGF8, FGF9, FGFR1
16MP:00053896.7AKT3, EFNB1, FGF10, FGF2, FGF7, FGF8
17MP:00053916.1EFNB1, EXT1, FGF10, FGF2, FGF7, FGF8
18MP:00053866.0AKT3, EXT1, FGF10, FGF13, FGF2, FGF7
19MP:00053785.9AKT3, EFNB1, EXT1, FGF10, FGF7, FGF8
20MP:00053905.8EFNB1, EXT1, FGF10, FGF2, FGF7, FGF8
21MP:00053845.8AKT3, EFNB1, EXT1, FGF10, FGF13, FGF2
22MP:00053765.7AKT3, EFNB1, FGF1, FGF10, FGF2, FGF7
23MP:00053975.7AKT3, ARID1B, EFNB1, FGF1, FGF10, FGF2
24MP:00107685.2AKT3, EFNB1, EXT1, FGF10, FGF13, FGF2
25MP:00036314.2AKT3, EFNB1, EXT1, FGF1, FGF10, FGF13

Drugs & Therapeutics for Muenke Syndrome

About this section

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

About this section

Genetic tests related to Muenke Syndrome:

id Genetic test Affiliating Genes
1 Muenke Syndrome27 24 FGFR3
2 Coronal Craniosynostosis27
3 Fgfr3-Related Craniosynostosis24 FGFR3

Anatomical Context for Muenke Syndrome

About this section

MalaCards organs/tissues related to Muenke Syndrome:

36
Bone, Skin, Testes, Temporal lobe

Publications for Muenke Syndrome

About this section

Articles related to Muenke Syndrome:

(show all 33)
idTitleAuthorsYear
1
Erratum to: A Qualitative Study to Explore the Views and Attitudes towards Prenatal Testing in Adults who Have Muenke Syndrome and their Partners. (28432536)
2017
2
A Qualitative Study to Explore the Views and Attitudes towards Prenatal Testing in Adults Who Have Muenke Syndrome and their Partners. (28332077)
2017
3
Expansion of the variable expression of Muenke syndrome: Hydrocephalus without craniosynostosis. (27568649)
2016
4
Assessing the midface in Muenke syndrome: A cephalometric analysis and review of the literature. (27449747)
2016
5
Muenke syndrome: An international multicenter natural history study. (26740388)
2016
6
Executive Function and Adaptive Behavior in Muenke Syndrome. (26028288)
2015
7
Phenotypic Variability in Two Families of Muenke Syndrome with FGFR3 Mutation. (24705944)
2014
8
Squamosal suture craniosynostosis in Muenke syndrome. (24448525)
2014
9
A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation - case report and review of the literature. (24168007)
2013
10
Genetic rescue of Muenke syndrome model hearing loss reveals prolonged FGF-dependent plasticity in cochlear supporting cell fates. (24145799)
2013
11
Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism. (23378035)
2013
12
Muenke syndrome associated with multiple osteochondromas. (22446440)
2012
13
Muenke syndrome mutation, FgfR3PA^a8'a8'R, causes TMJ defects. (22622662)
2012
14
Palatal and oral manifestations of Muenke syndrome (FGFR3-related craniosynostosis). (22565872)
2012
15
Phenotype profile of a genetic mouse model for Muenke syndrome. (22872265)
2012
16
Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis. (23044018)
2012
17
Coronal synostosis syndrome (Muenke syndrome): the value of genetic testing versus clinical diagnosis. (21233754)
2011
18
Genetic-environmental interaction in a unique case of Muenke syndrome with intracranial hypertension. (21971908)
2011
19
Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype. (21204234)
2011
20
The Muenke syndrome mutation (FgfR3P244R) causes cranial base shortening associated with growth plate dysfunction and premature perichondrial ossification in murine basicranial synchondroses. (22016144)
2011
21
Prenatal diagnosis of craniosynostosis: sonographic features of Muenke syndrome. (22085076)
2011
22
Additional phenotypic features of Muenke syndrome in 2 Dutch families. (21403557)
2011
23
A Korean family with the Muenke syndrome. (20592905)
2010
24
A young patient with polyarthralgia and hearing loss: a case report of Muenke syndrome. (19449001)
2009
25
Significant phenotypic variability of Muenke syndrome in identical twins. (19449410)
2009
26
Muenke syndrome with osteochondroma. (19097163)
2009
27
Hearing loss in a mouse model of Muenke syndrome. (18818193)
2009
28
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. (18000976)
2007
29
Craniofacial morphology in Muenke syndrome. (17414289)
2007
30
Trigonocephaly in Muenke syndrome. (17036334)
2006
31
Muenke syndrome. (14963686)
2004
32
Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia. (12794698)
2003
33
Muenke Syndrome (20301588)
1993

Variations for Muenke Syndrome

About this section

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

70
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

About this section
Search GEO for disease gene expression data for Muenke Syndrome.

Pathways for genes affiliated with Muenke Syndrome

About this section

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

(show top 50)    (show all 55)
idSuper pathwaysScoreTop Affiliating Genes
19.9FGFR1, FGFR2, FGFR3
29.5FGF1, FGFR1, FGFR2
3
Show member pathways
9.4AKT3, FGFR1, FGFR2, FGFR3
4
Show member pathways
9.4AKT3, FGFR1, FGFR2, FGFR3
5
Show member pathways
9.4AKT3, FGFR1, FGFR2, FGFR3
69.4AKT3, FGFR1, FGFR2, FGFR3
79.2FGF10, FGF2, FGF8
89.1FGF7, PTCH1
98.8FGF10, FGF2, FGF8, FGFR1, FGFR3
108.8FGF1, FGF2, FGF7
118.8AKT3, FGF2, FGFR1, FGFR2, FGFR3
12
Show member pathways
8.8AKT3, FGF2, FGFR1, FGFR2, FGFR3
138.8FGF10, FGF13, FGF2, FGF7
148.7FGF1, FGF10, FGF2, FGF8
158.7FGF2, FGF8, FGFR1, FGFR2, FGFR3, TWIST1
16
Show member pathways
8.5FGF1, FGF2, FGF8, FGF9, FGFR3
17
Show member pathways
8.5FGF1, FGF2, FGF8, FGF9, FGFR1
18
Show member pathways
8.4EFNB1, FGF1, FGF2, FGFR1, FGFR2, FGFR3
198.4EFNB1, FGF1, FGF2, FGFR1, FGFR2, FGFR3
208.3FGF2, FGFR1, FGFR3, IHH, PTCH1
217.9AKT3, FGF2, FGFR1, IHH, PTCH1, TWIST1
22
Show member pathways
7.3FGF1, FGF10, FGF2, FGF7, FGF8, FGF9
23
Show member pathways
7.3FGF1, FGF10, FGF2, FGF7, FGF8, FGF9
24
Show member pathways
7.3FGF1, FGF10, FGF2, FGF7, FGF8, FGF9
25
Show member pathways
7.3FGF1, FGF10, FGF2, FGF7, FGF8, FGF9
26
Show member pathways
7.3FGF1, FGF10, FGF2, FGF7, FGF8, FGF9
27
Show member pathways
7.3FGF1, FGF10, FGF13, FGF2, FGF7, FGF8
28
Show member pathways
7.3FGF1, FGF10, FGF13, FGF2, FGF7, FGF8
29
Show member pathways
7.3FGF1, FGF10, FGF13, FGF2, FGF7, FGF8
307.3FGF1, FGF10, FGF13, FGF2, FGF7, FGF8
31
Show member pathways
7.3FGF1, FGF10, FGF13, FGF2, FGF7, FGF8
32
Show member pathways
7.0FGF1, FGF10, FGF13, FGF2, FGF7, FGF8
33
Show member pathways
7.0FGF1, FGF10, FGF13, FGF2, FGF7, FGF8
34
Show member pathways
6.9AKT3, FGF1, FGF10, FGF2, FGF7, FGF8
35
Show member pathways
6.9AKT3, FGF1, FGF10, FGF2, FGF7, FGF8
36
Show member pathways
6.9AKT3, FGF1, FGF10, FGF2, FGF7, FGF8
37
Show member pathways
6.8AKT3, FGF1, FGF10, FGF13, FGF2, FGF7
38
Show member pathways
6.8AKT3, FGF1, FGF10, FGF13, FGF2, FGF7
39
Show member pathways
6.8AKT3, FGF1, FGF10, FGF13, FGF2, FGF7
40
Show member pathways
6.8AKT3, FGF1, FGF10, FGF13, FGF2, FGF7
41
Show member pathways
6.8FGF1, FGF10, FGF2, FGF7, FGF8, FGF9
42
Show member pathways
6.6AKT3, FGF1, FGF10, FGF13, FGF2, FGF7
43
Show member pathways
6.6AKT3, FGF1, FGF10, FGF13, FGF2, FGF7
446.6AKT3, FGF1, FGF10, FGF13, FGF2, FGF7
45
Show member pathways
6.6AKT3, FGF1, FGF10, FGF13, FGF2, FGF7
46
Show member pathways
6.6AKT3, FGF1, FGF10, FGF13, FGF2, FGF7
47
Show member pathways
6.6AKT3, FGF1, FGF10, FGF13, FGF2, FGF7
48
Show member pathways
6.6AKT3, FGF1, FGF10, FGF13, FGF2, FGF7
49
Show member pathways
6.3AKT3, FGF1, FGF10, FGF2, FGF7, FGF8
50
Show member pathways
6.2AKT3, FGF1, FGF10, FGF2, FGF7, FGF8

GO Terms for genes affiliated with Muenke Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055766.7FGF1, FGF10, FGF13, FGF2, FGF7, FGF8

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

(show top 50)    (show all 85)
idNameGO IDScoreTop Affiliating Genes
1endochondral bone growthGO:000341610.9FGFR2, FGFR3
2fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:003560710.9FGFR1, FGFR2
3mesenchymal cell differentiationGO:004876210.9FGFR1, FGFR2
4orbitofrontal cortex developmentGO:002176910.9FGFR1, FGFR2
5branch elongation involved in salivary gland morphogenesisGO:006066710.8FGF10, FGFR2
6bud elongation involved in lung branchingGO:006044910.8FGF10, FGFR2
7outer ear morphogenesisGO:004247310.8FGFR1, TWIST1
8epidermis morphogenesisGO:004873010.8FGF10, FGFR2
9epithelial cell proliferation involved in salivary gland morphogenesisGO:006066410.8FGF10, FGFR2
10fibroblast growth factor receptor signaling pathway involved in mammary gland specificationGO:006059510.8FGF10, FGFR2
11lacrimal gland developmentGO:003280810.8FGF10, FGFR2
12limb bud formationGO:006017410.8FGF10, FGFR2
13mammary gland bud formationGO:006061510.8FGF10, FGFR2
14mesenchymal cell differentiation involved in lung developmentGO:006091510.8FGF10, FGFR2
15organ growthGO:003526510.8FGF10, FGFR2
16chondrocyte proliferationGO:003598810.8FGFR3, IHH
17embryonic digestive tract developmentGO:004856610.8FGF10, FGF9
18salivary gland morphogenesisGO:000743510.8FGF10, FGFR1
19positive regulation of vascular endothelial growth factor receptor signaling pathwayGO:003094910.7FGF10, FGF9
20generation of neuronsGO:004869910.7FGF8, FGFR1
21mesonephros developmentGO:000182310.6FGF10, FGF8
22chondrocyte differentiationGO:000206210.6FGF9, FGFR1, FGFR3
23lung-associated mesenchyme developmentGO:006048410.6FGF9, FGFR1, FGFR2
24positive regulation of phospholipase activityGO:001051810.6FGFR1, FGFR2, FGFR3
25embryonic skeletal joint developmentGO:007249810.6EXT1, IHH
26ventricular zone neuroblast divisionGO:002184710.6FGFR1, FGFR2
27embryonic digestive tract morphogenesisGO:004855710.5FGF10, FGFR2, IHH
28positive regulation of epithelial cell proliferation involved in lung morphogenesisGO:006050110.5FGF7, FGFR2
29osteoblast differentiationGO:000164910.5FGF9, IHH, TWIST1
30neuron migrationGO:000176410.5FGF13, FGFR1, TWIST1
31bone developmentGO:006034810.5FGF8, FGFR2, TWIST1
32odontogenesisGO:004247610.5FGF8, FGFR2, TWIST1
33positive regulation of keratinocyte migrationGO:005154910.5FGF10, FGF7
34positive regulation of keratinocyte proliferationGO:001083810.5FGF10, FGF7
35secretion by lung epithelial cell involved in lung growthGO:006103310.4FGF10, FGF7
36otic vesicle formationGO:003091610.4FGF10, FGF8, FGFR2
37positive regulation of endothelial cell chemotaxis to fibroblast growth factorGO:200054610.4FGF2, FGFR1
38positive regulation of phospholipase C activityGO:001086310.4FGF2, FGFR1
39hair follicle morphogenesisGO:003106910.3FGF10, FGF7, FGFR2
40positive regulation of mesenchymal cell proliferationGO:000205310.3FGF9, FGFR1, FGFR2, IHH
41embryonic pattern specificationGO:000988010.2EFNB1, FGF10, FGFR2, IHH
42regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signalingGO:006066510.2FGF10, FGF7, FGFR1
43hindlimb morphogenesisGO:003513710.2PTCH1, TWIST1
44keratinocyte proliferationGO:004361610.2FGF10, PTCH1
45positive regulation of MAPK cascadeGO:004341010.1FGF10, FGF9, FGFR1, FGFR2, FGFR3
46positive regulation of sprouting angiogenesisGO:190367210.1FGF1, FGF2
47regulation of endothelial cell chemotaxis to fibroblast growth factorGO:200054410.1FGF1, FGF2
48pharyngeal system developmentGO:006003710.1FGF8, PTCH1
49inner ear morphogenesisGO:004247210.0FGF10, FGF8, FGF9, FGFR1, FGFR2
50positive regulation of cardiac muscle cell proliferationGO:006004510.0FGF2, FGF9, FGFR1, FGFR2

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor bindingGO:001713410.6FGFR1, FGFR2, FGFR3
2fibroblast growth factor-activated receptor activityGO:000500710.6FGFR1, FGFR2, FGFR3
3receptor-receptor interactionGO:009072210.1FGF2, FGFR1
4patched bindingGO:000511310.1IHH, PTCH1
5transmembrane receptor protein tyrosine kinase activityGO:00047149.9FGFR1, FGFR2, FGFR3
6protein kinase activityGO:00046729.7AKT3, FGFR1, FGFR2, FGFR3, MARK3
7nucleotide bindingGO:00001669.5AKT3, FGFR1, FGFR2, FGFR3, MARK3, RAB23
8chemoattractant activityGO:00420569.4FGF10, FGF2, FGF7, FGF8
9fibroblast growth factor receptor bindingGO:00051048.7FGF1, FGF10, FGF2, FGF7, FGF8, FGF9
10growth factor activityGO:00080838.3FGF1, FGF10, FGF13, FGF2, FGF7, FGF8
111-phosphatidylinositol-3-kinase activityGO:00163038.1FGF1, FGF10, FGF2, FGF7, FGF8, FGF9
12phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469348.0FGF1, FGF10, FGF2, FGF7, FGF8, FGF9
13protein tyrosine kinase activityGO:00047137.9FGF1, FGF10, FGF2, FGF7, FGF8, FGF9
14Ras guanyl-nucleotide exchange factor activityGO:00050887.8FGF1, FGF10, FGF2, FGF7, FGF8, FGF9
15heparin bindingGO:00082017.8FGF1, FGF10, FGF2, FGF7, FGF9, FGFR1

Sources for Muenke Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet