MCID: MNK003
MIFTS: 60

Muenke Syndrome

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Muenke Syndrome

MalaCards integrated aliases for Muenke Syndrome:

Name: Muenke Syndrome 53 12 72 72 23 49 24 71 36 28 13 51 41 14 69
Muenke Nonsyndromic Coronal Craniosynostosis 53 49 24
Fgfr3-Associated Coronal Synostosis 24 71
Fgfr3-Related Craniosynostosis 12 71
Muenke Non-Syndromic Coronal Craniosynostosis 71
Fgfr3-Related Isolated Coronal Synostosis 71
Syndrome of Coronal Craniosynostosis 49
Coronal Craniosynostosis 28
Mnkes 53
Mnks 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
significant phenotypic variability
females more severely affected than males
birth rate of 7.6 per 1,000,000


HPO:

31
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:



Summaries for Muenke Syndrome

UniProtKB/Swiss-Prot : 71 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 osteochondroma, and has symptoms including macrocephaly, malar flattening and hypertelorism. An important gene associated with Muenke Syndrome is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are Signaling by GPCR and Innate Immune System. Affiliated tissues include bone, skin and testes, and related phenotypes are Decreased viability and Decreased viability

OMIM : 53 Muenke syndrome is an autosomal dominant disorder characterized by uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay. Other more variable features include thimble-shaped middle phalanges, brachydactyly, carpal/tarsal fusion, and deafness. The phenotype is variable and can range from no detectable clinical manifestations to complex findings (summary by Abdel-Salam et al., 2011). (602849)

NIH Rare Diseases : 49 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.

Disease Ontology : 12 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.

GeneReviews: NBK1415

Related Diseases for Muenke Syndrome

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

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 hypochondroplasia 30.3 FGFR1 FGFR2 FGFR3
2 osteochondroma 29.5 EXT1 FGF2 FGF9 FGFR1 FGFR3
3 synostosis 29.5 EFNB1 FGFR1 FGFR2 FGFR3 RAB23 TWIST1
4 craniosynostosis 28.9 EFNB1 FGF10 FGF2 FGF8 FGF9 FGFR1
5 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation 12.1
6 menkes disease 11.6
7 glass-chapman-hockley syndrome 11.2
8 baller-gerold syndrome 11.0
9 gorlin-chaudhry-moss syndrome 11.0
10 curry-jones syndrome 11.0
11 nasodigitoacoustic syndrome 11.0
12 isolated brachycephaly 10.5 FGFR3 TWIST1
13 isolated plagiocephaly 10.5 FGFR3 TWIST1
14 osteoglophonic dysplasia 10.4 FGFR1 FGFR2 FGFR3
15 jackson-weiss syndrome 10.4 FGFR1 FGFR2 FGFR3
16 deafness, autosomal recessive 51 10.4 FGF8 FGFR3
17 beare-stevenson cutis gyrata syndrome 10.4 FGFR2 FGFR3 RAB23
18 acanthoma 10.4 FGF10 FGFR2
19 achondroplasia 10.4 FGFR1 FGFR2 FGFR3
20 pleuropulmonary blastoma 10.4 FGF10 FGF9 FGFR2
21 hartsfield syndrome 10.3 FGF8 FGFR1
22 hypertelorism 10.3 EFNB1 FGFR2 TWIST1
23 gliosarcoma 10.3 FGFR1 FGFR3 TWIST1
24 plagiocephaly 10.3 FGFR1 FGFR2 FGFR3 TWIST1
25 bone development disease 10.3 FGFR1 FGFR2 FGFR3 TWIST1
26 saethre-chotzen syndrome 10.3 FGFR1 FGFR2 FGFR3 TWIST1
27 luteoma 10.2 FGFR2 FGFR3
28 spastic paraplegia 25, autosomal recessive 10.1 FGF13 FGF2
29 clear cell acanthoma 10.1 FGF10 FGF7 FGFR2
30 thanatophoric dysplasia, type i 10.1 FGF13 FGF8 FGFR2 FGFR3
31 orofacial cleft 10.1 FGF10 FGF8 FGFR1 FGFR2
32 clivus chordoma 10.1 FGF13 FGF2
33 adamantinoma of long bones 10.1 FGF13 FGF2 FGFR1
34 synovial chondromatosis 10.0 FGF2 FGF9 FGFR1 FGFR3
35 occipital horn syndrome 10.0
36 leukemia 10.0
37 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
38 diaphragmatic hernia, congenital 10.0 EFNB1 FGF10 FGF7
39 hypospadias 10.0 FGF10 FGF8 FGFR2
40 cataract 32, multiple types 9.9
41 prostate cancer 9.9
42 prostatitis 9.9
43 myeloid leukemia 9.9
44 lung squamous cell carcinoma 9.9 FGFR1 FGFR2 FGFR3
45 microform holoprosencephaly 9.8 FGF8 FGFR1 PTCH1
46 lobar holoprosencephaly 9.8 FGF8 FGFR1 PTCH1
47 autosomal dominant disease 9.8 FGFR2 FGFR3 PTCH1
48 semilobar holoprosencephaly 9.8 FGF8 FGFR1 PTCH1
49 crouzon syndrome 9.8 FGF13 FGF2 FGFR1 FGFR2 FGFR3
50 septopreoptic holoprosencephaly 9.8 FGF8 PTCH1

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



Diseases related to Muenke Syndrome

Symptoms & Phenotypes for Muenke Syndrome

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Head:
macrocephaly
brachycephaly
plagiocephaly

Skeletal Hands:
clinodactyly
brachydactyly
coned epiphyses
broad, thimble-like middle phalanges
capitate-hamate fusions

Neurologic Central Nervous System:
developmental delay
mental retardation

Growth Height:
normal height

Skeletal Feet:
broad halluces
short middle phalanges
coned epiphyses
calcaneocuboidal fusions

Skeletal Skull:
coronal craniosynostosis (unicoronal or bicoronal, unilateral or bilateral)
bulging of temporal fossae

Head And Neck Eyes:
hypertelorism
ptosis
strabismus
downslanting palpebral fissures

Head And Neck Mouth:
dental malocclusion
high-arched palate

Head And Neck Face:
midface hypoplasia
low-set frontal hairline

Head And Neck Ears:
hearing loss, sensorineural

Skin Nails Hair Hair:
low-set frontal hairline


Clinical features from OMIM:

602849

Human phenotypes related to Muenke Syndrome:

31 (show all 35)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 occasional (7.5%) HP:0000256
2 malar flattening 31 frequent (33%) HP:0000272
3 hypertelorism 31 frequent (33%) HP:0000316
4 clinodactyly 31 HP:0030084
5 high palate 31 HP:0000218
6 hydrocephalus 31 occasional (7.5%) HP:0000238
7 ptosis 31 frequent (33%) HP:0000508
8 intellectual disability 31 HP:0001249
9 global developmental delay 31 occasional (7.5%) HP:0001263
10 increased intracranial pressure 31 frequent (33%) HP:0002516
11 sensorineural hearing impairment 31 frequent (33%) HP:0000407
12 brachycephaly 31 frequent (33%) HP:0000248
13 short palm 31 frequent (33%) HP:0004279
14 cone-shaped epiphysis 31 frequent (33%) HP:0010579
15 short foot 31 frequent (33%) HP:0001773
16 high, narrow palate 31 frequent (33%) HP:0002705
17 hypopigmented skin patches 31 occasional (7.5%) HP:0001053
18 hypopigmentation of hair 31 occasional (7.5%) HP:0005599
19 coronal craniosynostosis 31 frequent (33%) HP:0004440
20 downslanted palpebral fissures 31 HP:0000494
21 brachydactyly 31 HP:0001156
22 low anterior hairline 31 HP:0000294
23 midface retrusion 31 HP:0011800
24 proptosis 31 frequent (33%) HP:0000520
25 hypermelanotic macule 31 occasional (7.5%) HP:0001034
26 plagiocephaly 31 frequent (33%) HP:0001357
27 tarsal synostosis 31 frequent (33%) HP:0008368
28 capitate-hamate fusion 31 HP:0001241
29 cone-shaped epiphyses of the phalanges of the hand 31 HP:0010230
30 radial deviation of finger 31 HP:0009466
31 short middle phalanx of finger 31 HP:0005819
32 carpal synostosis 31 frequent (33%) HP:0009702
33 broad hallux 31 HP:0010055
34 short middle phalanx of toe 31 HP:0003795
35 thimble-shaped middle phalanges of hand 31 HP:0006193

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.16 MARK3
2 Decreased viability GR00221-A-1 10.16 FGFR1 FGFR3 IHH AKT3 MARK3
3 Decreased viability GR00221-A-2 10.16 FGFR1 FGFR3 IHH AKT3 MARK3
4 Decreased viability GR00221-A-3 10.16 FGFR3 AKT3
5 Decreased viability GR00221-A-4 10.16 AKT3 MARK3
6 Decreased viability GR00301-A 10.16 AKT3
7 Synthetic lethal with vaccinia virus (VACV) infection GR00362-A 9.1 FOXM1 IHH RAB23 EFNB1 FGF7 FGF9

MGI Mouse Phenotypes related to Muenke Syndrome:

43 (show all 25)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.49 FGFR1 FGF9 FGF8 PTCH1 IHH FOXM1
2 behavior/neurological MP:0005386 10.44 FGFR1 FGF9 FGF8 PTCH1 FGFR2 FGFR3
3 growth/size/body region MP:0005378 10.42 FGFR1 FGF9 FGF8 MARK3 PTCH1 IHH
4 mortality/aging MP:0010768 10.42 FGFR1 FGF9 FGF8 MARK3 RAB23 PTCH1
5 homeostasis/metabolism MP:0005376 10.39 FGFR1 FGF9 FGF8 MARK3 PTCH1 FGFR2
6 digestive/alimentary MP:0005381 10.38 FGF9 FGFR1 PTCH1 IHH FOXM1 FGFR3
7 cardiovascular system MP:0005385 10.36 FGFR1 FGF9 FGF8 IHH PTCH1 FGFR2
8 craniofacial MP:0005382 10.35 FGF9 FGFR1 PTCH1 IHH FGFR3 FGFR2
9 hematopoietic system MP:0005397 10.34 FGFR1 FGF8 PTCH1 FGFR3 FGFR2 FGF1
10 nervous system MP:0003631 10.34 FGFR1 RAB23 PTCH1 TWIST1 IHH FGFR3
11 embryo MP:0005380 10.33 FGFR1 FGF9 FGF8 RAB23 PTCH1 IHH
12 immune system MP:0005387 10.31 FGFR1 FGF9 FGF8 PTCH1 FGFR3 FGFR2
13 limbs/digits/tail MP:0005371 10.29 FGF9 FGFR1 RAB23 PTCH1 TWIST1 IHH
14 endocrine/exocrine gland MP:0005379 10.28 FGFR1 FGF9 FGF8 IHH FOXM1 PTCH1
15 hearing/vestibular/ear MP:0005377 10.27 FGF9 FGFR1 PTCH1 FGFR3 FGFR2 FGF8
16 integument MP:0010771 10.22 FGFR1 FGF9 RAB23 PTCH1 FGFR2 FGFR3
17 muscle MP:0005369 10.18 FGFR1 FGF9 FGF8 PTCH1 IHH FOXM1
18 normal MP:0002873 10.07 FGFR1 FGF9 FGF8 PTCH1 FGFR2 FGFR3
19 no phenotypic analysis MP:0003012 10.01 PTCH1 IHH MARK3 FGFR3 FGFR2 FGFR1
20 neoplasm MP:0002006 10 PTCH1 FOXM1 FGFR3 FGFR2 EXT1 FGF2
21 reproductive system MP:0005389 10 FGFR1 FGF9 FGF8 PTCH1 FGFR3 FGFR2
22 renal/urinary system MP:0005367 9.87 FGF8 PTCH1 FGFR3 FGFR2 FGFR1 FGF7
23 respiratory system MP:0005388 9.81 FGF9 FGF8 PTCH1 IHH FGFR2 FOXM1
24 skeleton MP:0005390 9.8 FGF9 FGFR1 RAB23 PTCH1 TWIST1 IHH
25 vision/eye MP:0005391 9.44 FGF9 FGFR1 RAB23 PTCH1 IHH FGFR3

Drugs & Therapeutics for Muenke Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) Recruiting NCT00106977

Search NIH Clinical Center for Muenke Syndrome

Cochrane evidence based reviews: muenke syndrome

Genetic Tests for Muenke Syndrome

Genetic tests related to Muenke Syndrome:

# Genetic test Affiliating Genes
1 Muenke Syndrome 28 FGFR3
2 Coronal Craniosynostosis 28

Anatomical Context for Muenke Syndrome

MalaCards organs/tissues related to Muenke Syndrome:

38
Bone, Skin, Testes, Temporal Lobe

Publications for Muenke Syndrome

Articles related to Muenke Syndrome:

(show all 33)
# Title Authors Year
1
A Qualitative Study to Explore the Views and Attitudes towards Prenatal Testing in Adults Who Have Muenke Syndrome and their Partners. ( 28332077 )
2017
2
A patient with Muenke syndrome manifesting migrating neonatal seizures. ( 28551036 )
2017
3
Assessing the midface in Muenke syndrome: A cephalometric analysis and review of the literature. ( 27449747 )
2016
4
Expansion of the variable expression of Muenke syndrome: Hydrocephalus without craniosynostosis. ( 27568649 )
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
Genetic rescue of Muenke syndrome model hearing loss reveals prolonged FGF-dependent plasticity in cochlear supporting cell fates. ( 24145799 )
2013
10
A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation - case report and review of the literature. ( 24168007 )
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
Palatal and oral manifestations of Muenke syndrome (FGFR3-related craniosynostosis). ( 22565872 )
2012
13
Phenotype profile of a genetic mouse model for Muenke syndrome. ( 22872265 )
2012
14
Muenke syndrome associated with multiple osteochondromas. ( 22446440 )
2012
15
Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis. ( 23044018 )
2012
16
Muenke syndrome mutation, FgfR3PA^a8'a8'R, causes TMJ defects. ( 22622662 )
2012
17
Genetic-environmental interaction in a unique case of Muenke syndrome with intracranial hypertension. ( 21971908 )
2011
18
Prenatal diagnosis of craniosynostosis: sonographic features of Muenke syndrome. ( 22085076 )
2011
19
Coronal synostosis syndrome (Muenke syndrome): the value of genetic testing versus clinical diagnosis. ( 21233754 )
2011
20
Additional phenotypic features of Muenke syndrome in 2 Dutch families. ( 21403557 )
2011
21
The Muenke syndrome mutation (FgfR3P244R) causes cranial base shortening associated with growth plate dysfunction and premature perichondrial ossification in murine basicranial synchondroses. ( 22016144 )
2011
22
Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype. ( 21204234 )
2011
23
A Korean family with the Muenke syndrome. ( 20592905 )
2010
24
Hearing loss in a mouse model of Muenke syndrome. ( 18818193 )
2009
25
A young patient with polyarthralgia and hearing loss: a case report of Muenke syndrome. ( 19449001 )
2009
26
Muenke syndrome with osteochondroma. ( 19097163 )
2009
27
Significant phenotypic variability of Muenke syndrome in identical twins. ( 19449410 )
2009
28
Craniofacial morphology in Muenke syndrome. ( 17414289 )
2007
29
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. ( 18000976 )
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

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

71
# Symbol AA change Variation ID SNP ID
1 FGFR3 p.Pro250Arg VAR_004150 rs4647924

ClinVar genetic disease variations for Muenke Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh37 Chromosome 4, 1803571: 1803571

Expression for Muenke Syndrome

Search GEO for disease gene expression data for Muenke Syndrome.

Pathways for Muenke Syndrome

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

(show top 50) (show all 58)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.22 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
2
Show member pathways
14.08 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
3
Show member pathways
13.92 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
4
Show member pathways
13.89 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
5
Show member pathways
13.81 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
6
Show member pathways
13.81 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
7
Show member pathways
13.67 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
8
Show member pathways
13.64 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
9
Show member pathways
13.6 AKT3 EFNB1 FGF1 FGF10 FGF2 FGF7
10
Show member pathways
13.56 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
11
Show member pathways
13.51 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
12
Show member pathways
13.47 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
13
Show member pathways
13.42 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
14
Show member pathways
13.41 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
15
Show member pathways
13.39 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
16
Show member pathways
13.24 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
17
Show member pathways
13.18 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
18
Show member pathways
13.17 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
19
Show member pathways
13.15 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
20
Show member pathways
13.07 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
21
Show member pathways
12.99 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
22
Show member pathways
12.88 AKT3 ARID1B FGF1 FGF10 FGF2 FGF7
23 12.84 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
24
Show member pathways
12.81 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
25
Show member pathways
12.8 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
26 12.78 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
27
Show member pathways
12.77 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
28
Show member pathways
12.69 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
29 12.62 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
30
Show member pathways
12.49 AKT3 FGFR1 FGFR2 FGFR3
31
Show member pathways
12.46 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
32
Show member pathways
12.44 AKT3 FGFR1 FGFR2 FGFR3
33 12.44 AKT3 FGF2 FGFR1 IHH PTCH1 TWIST1
34
Show member pathways
12.34 AKT3 FGF2 FGFR1 FGFR2 FGFR3
35 12.27 EFNB1 FGF1 FGF2 FGFR1 FGFR2 FGFR3
36 12.22 AKT3 FGF2 FGFR1 FGFR2 FGFR3
37
Show member pathways
12.21 AKT3 FGFR1 FGFR2 FGFR3
38
Show member pathways
12.2 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
39 12.12 FGF10 FGF13 FGF2 FGF7
40 12.07 FGF2 FGF8 FGFR1 FGFR2 FGFR3 TWIST1
41
Show member pathways
12.03 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
42
Show member pathways
12.01 FGF1 FGF2 FGF8 FGF9 FGFR1
43
Show member pathways
12.01 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
44 11.98 EFNB1 FGF1 FGF2 FGFR1 FGFR2 FGFR3
45 11.94 FGF10 FGF2 FGF8 FGFR1 FGFR3
46 11.88 FGF10 FGF2 FGF8
47 11.84 FGF2 FGFR1 FGFR3 IHH PTCH1
48 11.8 AKT3 FGFR1 FGFR2 FGFR3
49
Show member pathways
11.78 FGF1 FGF2 FGF8 FGF9 FGFR3
50
Show member pathways
11.78 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7

GO Terms for Muenke Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.36 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8

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

(show top 50) (show all 83)
# Name GO ID Score Top Affiliating Genes
1 animal organ morphogenesis GO:0009887 9.99 FGF10 FGF2 FGFR2 PTCH1
2 positive regulation of MAPK cascade GO:0043410 9.98 FGF10 FGF9 FGFR1 FGFR2 FGFR3
3 lung development GO:0030324 9.97 FGF1 FGF10 FGF8 FGF9 FGFR1 FGFR2
4 positive regulation of protein kinase B signaling GO:0051897 9.97 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
5 positive regulation of cell division GO:0051781 9.95 FGF1 FGF2 FGF7 FGF8 FGF9 FGFR2
6 positive regulation of epithelial cell proliferation GO:0050679 9.95 FGF1 FGF10 FGF7 FGF9 FGFR2 IHH
7 epidermis development GO:0008544 9.94 FGF10 FGF7 PTCH1
8 neuron migration GO:0001764 9.94 FGF13 FGFR1 TWIST1
9 embryonic limb morphogenesis GO:0030326 9.94 FGF9 FGFR1 PTCH1 TWIST1
10 osteoblast differentiation GO:0001649 9.93 FGF9 IHH TWIST1
11 response to estradiol GO:0032355 9.93 FGF10 IHH PTCH1
12 wound healing GO:0042060 9.93 FGF10 FGF2 FGFR2
13 ossification GO:0001503 9.93 EXT1 IHH TWIST1
14 positive chemotaxis GO:0050918 9.92 FGF10 FGF2 FGF7 FGF8
15 inner ear morphogenesis GO:0042472 9.92 FGF10 FGF8 FGF9 FGFR1 FGFR2
16 negative regulation of cell differentiation GO:0045596 9.9 FGF10 IHH TWIST1
17 positive regulation of MAP kinase activity GO:0043406 9.9 FGF1 FGF2 FGFR1
18 positive regulation of cardiac muscle cell proliferation GO:0060045 9.9 FGF2 FGF9 FGFR1 FGFR2
19 bone development GO:0060348 9.89 FGF8 FGFR2 TWIST1
20 branching involved in ureteric bud morphogenesis GO:0001658 9.88 FGF2 FGF8 PTCH1
21 chondrocyte differentiation GO:0002062 9.88 FGF9 FGFR1 FGFR3
22 odontogenesis GO:0042476 9.87 FGF8 FGFR2 TWIST1
23 positive regulation of mesenchymal cell proliferation GO:0002053 9.87 FGF9 FGFR1 FGFR2 IHH
24 embryonic pattern specification GO:0009880 9.86 EFNB1 FGF10 FGFR2 IHH
25 hair follicle morphogenesis GO:0031069 9.85 FGF10 FGF7 FGFR2
26 branching involved in salivary gland morphogenesis GO:0060445 9.85 FGF10 FGF7 FGF8 FGFR1 FGFR2
27 limb morphogenesis GO:0035108 9.83 FGF10 FGF8 PTCH1
28 regulation of smoothened signaling pathway GO:0008589 9.83 FGF10 FGFR2 PTCH1
29 embryonic digestive tract morphogenesis GO:0048557 9.82 FGF10 FGFR2 IHH
30 organ induction GO:0001759 9.81 FGF1 FGF10 FGF8 FGFR1
31 phosphatidylinositol phosphorylation GO:0046854 9.81 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
32 positive regulation of phospholipase activity GO:0010518 9.8 FGFR1 FGFR2 FGFR3
33 lung-associated mesenchyme development GO:0060484 9.8 FGF9 FGFR1 FGFR2
34 otic vesicle formation GO:0030916 9.79 FGF10 FGF8 FGFR2
35 somite development GO:0061053 9.76 IHH PTCH1
36 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.75 FGF10 FGF9
37 positive regulation of sprouting angiogenesis GO:1903672 9.75 FGF1 FGF2
38 mesonephros development GO:0001823 9.75 FGF10 FGF8
39 generation of neurons GO:0048699 9.75 FGF8 FGFR1
40 organ growth GO:0035265 9.75 FGF10 FGFR2
41 keratinocyte proliferation GO:0043616 9.74 FGF10 PTCH1
42 hindlimb morphogenesis GO:0035137 9.74 PTCH1 TWIST1
43 chondrocyte proliferation GO:0035988 9.74 FGFR3 IHH
44 limb bud formation GO:0060174 9.74 FGF10 FGFR2
45 salivary gland morphogenesis GO:0007435 9.74 FGF10 FGFR1
46 positive regulation of keratinocyte proliferation GO:0010838 9.74 FGF10 FGF7
47 mesenchymal cell differentiation GO:0048762 9.74 FGFR1 FGFR2
48 positive regulation of phospholipase C activity GO:0010863 9.73 FGF2 FGFR1
49 outer ear morphogenesis GO:0042473 9.73 FGFR1 TWIST1
50 positive regulation of keratinocyte migration GO:0051549 9.73 FGF10 FGF7

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.97 FGF1 FGF10 FGF2 FGF7 FGF9 FGFR1
2 protein kinase activity GO:0004672 9.95 AKT3 FGFR1 FGFR2 FGFR3 MARK3
3 nucleotide binding GO:0000166 9.95 AKT3 FGFR1 FGFR2 FGFR3 MARK3 RAB23
4 growth factor activity GO:0008083 9.95 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
5 protein tyrosine kinase activity GO:0004713 9.91 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
6 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.81 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
7 fibroblast growth factor receptor binding GO:0005104 9.8 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
8 chemoattractant activity GO:0042056 9.76 FGF10 FGF2 FGF7 FGF8
9 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.7 FGFR1 FGFR2 FGFR3
10 fibroblast growth factor binding GO:0017134 9.67 FGFR1 FGFR2 FGFR3
11 fibroblast growth factor-activated receptor activity GO:0005007 9.61 FGFR1 FGFR2 FGFR3
12 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.61 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
13 patched binding GO:0005113 9.54 IHH PTCH1
14 receptor-receptor interaction GO:0090722 9.51 FGF2 FGFR1
15 1-phosphatidylinositol-3-kinase activity GO:0016303 9.28 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9

Sources for Muenke Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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