MCID: MNK003
MIFTS: 59

Muenke Syndrome

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Muenke Syndrome

MalaCards integrated aliases for Muenke Syndrome:

Name: Muenke Syndrome 57 12 76 24 53 25 75 37 29 13 55 6 44 15 40 73
Muenke Nonsyndromic Coronal Craniosynostosis 57 53 25
Fgfr3-Associated Coronal Synostosis 25 75
Fgfr3-Related Craniosynostosis 12 75
Coronal Craniosynostosis 29 6
Muenke Non-Syndromic Coronal Craniosynostosis 75
Fgfr3-Related Isolated Coronal Synostosis 75
Syndrome of Coronal Craniosynostosis 53
Craniosynostosis, Coronal 40
Mnkes 57
Mnks 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
muenke syndrome:
Inheritance autosomal dominant inheritance


GeneReviews:

24
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 : 75 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 synostosis. 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 macrocephaly and malar flattening

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.

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 : 53 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.  

OMIM : 57 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)

Wikipedia : 76 Muenke syndrome, also known as FGFR3-related craniosynostosis, is a human specific condition... more...

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 64)
# Related Disease Score Top Affiliating Genes
1 hypochondroplasia 30.7 FGFR1 FGFR2 FGFR3
2 synostosis 29.5 EFNB1 FGFR1 FGFR2 FGFR3 RAB23 TWIST1
3 osteochondroma 29.3 EXT1 FGF2 FGF9 FGFR1 FGFR3
4 craniosynostosis 28.2 EFNB1 FGF10 FGF2 FGF8 FGF9 FGFR1
5 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation 12.1
6 menkes disease 12.0
7 glass-chapman-hockley syndrome 11.2
8 baller-gerold syndrome 11.0
9 curry-jones syndrome 11.0
10 fontaine progeroid syndrome 11.0
11 nasodigitoacoustic syndrome 11.0
12 isolated plagiocephaly 10.9 FGFR3 TWIST1
13 isolated brachycephaly 10.8 FGFR3 TWIST1
14 osteoglophonic dysplasia 10.7 FGFR1 FGFR2 FGFR3
15 jackson-weiss syndrome 10.7 FGFR1 FGFR2 FGFR3
16 hemifacial hyperplasia 10.7 EFNB1 FGFR2 FGFR3
17 deafness, autosomal recessive 51 10.6 FGF8 FGFR3
18 acanthoma 10.6 FGF10 FGFR2
19 beare-stevenson cutis gyrata syndrome 10.6 FGFR2 FGFR3 RAB23
20 achondroplasia 10.6 FGFR1 FGFR2 FGFR3
21 hypertelorism 10.5 EFNB1 FGFR2 TWIST1
22 hartsfield syndrome 10.5 FGF8 FGFR1
23 gliosarcoma 10.5 FGFR1 FGFR3 TWIST1
24 plagiocephaly 10.5 FGFR1 FGFR2 FGFR3 TWIST1
25 bone development disease 10.5 FGFR1 FGFR2 FGFR3 TWIST1
26 saethre-chotzen syndrome 10.5 FGFR1 FGFR2 FGFR3 TWIST1
27 luteoma 10.4 FGFR2 FGFR3
28 lung squamous cell carcinoma 10.3 FGF9 FGFR1 FGFR2 FGFR3
29 spastic paraplegia 25, autosomal recessive 10.2 FGF13 FGF2
30 clear cell acanthoma 10.2 FGF10 FGF7 FGFR2
31 clivus chordoma 10.1 FGF13 FGF2
32 leukemia 10.1
33 synovial chondromatosis 10.1 FGF2 FGF9 FGFR1 FGFR3
34 diaphragmatic hernia, congenital 10.0 EFNB1 FGF10 FGF7
35 occipital horn syndrome 10.0
36 myeloid leukemia 10.0
37 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.0
38 hypospadias 10.0 FGF10 FGF8 FGFR2
39 thanatophoric dysplasia, type i 10.0 FGF13 FGF8 FGFR1 FGFR2 FGFR3
40 prostate cancer 10.0
41 leukemia, acute myeloid 10.0
42 prostatitis 10.0
43 multiple enchondromatosis, maffucci type 9.8 EXT1 IHH
44 lymphoma 9.8
45 cutaneous t cell lymphoma 9.8
46 myeloproliferative neoplasm 9.8
47 neuronitis 9.8
48 type i 9.8
49 hydrocephalus 9.8
50 epilepsy 9.8

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:

57
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:

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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.26 MARK3
2 Decreased viability GR00221-A-1 10.26 FGFR3 AKT3 IHH MARK3 FGFR1
3 Decreased viability GR00221-A-2 10.26 FGFR3 AKT3 IHH MARK3 FGFR1
4 Decreased viability GR00221-A-3 10.26 FGFR3 AKT3
5 Decreased viability GR00221-A-4 10.26 AKT3 MARK3
6 Decreased viability GR00301-A 10.26 AKT3
7 Decreased viability GR00402-S-2 10.26 FGFR3 AKT3 MARK3 FGFR1
8 Synthetic lethal with vaccinia virus (VACV) infection GR00362-A 9.1 FOXM1 IHH EFNB1 FGF7 FGF9 RAB23

MGI Mouse Phenotypes related to Muenke Syndrome:

46 (show all 25)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.49 PTCH1 IHH TWIST1 AKT3 EXT1 EFNB1
2 behavior/neurological MP:0005386 10.44 PTCH1 TWIST1 AKT3 EXT1 FGF2 FGF10
3 growth/size/body region MP:0005378 10.42 PTCH1 IHH MARK3 TWIST1 EFNB1 AKT3
4 mortality/aging MP:0010768 10.42 PTCH1 IHH MARK3 RAB23 TWIST1 AKT3
5 homeostasis/metabolism MP:0005376 10.39 PTCH1 MARK3 EFNB1 AKT3 FGF1 FGF2
6 digestive/alimentary MP:0005381 10.38 IHH PTCH1 TWIST1 EXT1 EFNB1 FGF10
7 cardiovascular system MP:0005385 10.36 PTCH1 IHH TWIST1 AKT3 FGF2 FGF10
8 craniofacial MP:0005382 10.35 IHH PTCH1 TWIST1 EXT1 EFNB1 FGF8
9 hematopoietic system MP:0005397 10.34 PTCH1 EFNB1 AKT3 ARID1B FGF1 FGF2
10 nervous system MP:0003631 10.34 IHH RAB23 PTCH1 TWIST1 AKT3 EXT1
11 embryo MP:0005380 10.33 PTCH1 IHH RAB23 TWIST1 EXT1 EFNB1
12 immune system MP:0005387 10.31 PTCH1 EFNB1 AKT3 ARID1B FGF10 FGF7
13 limbs/digits/tail MP:0005371 10.29 IHH RAB23 PTCH1 TWIST1 FGF10 EXT1
14 endocrine/exocrine gland MP:0005379 10.28 FOXM1 PTCH1 IHH EFNB1 AKT3 FGF10
15 hearing/vestibular/ear MP:0005377 10.27 PTCH1 EXT1 EFNB1 FGF8 FGF2 FGF10
16 integument MP:0010771 10.22 PTCH1 RAB23 EFNB1 EXT1 FGF10 FGF7
17 muscle MP:0005369 10.18 PTCH1 IHH TWIST1 FGF2 FGF10 FGF8
18 normal MP:0002873 10.07 PTCH1 AKT3 EXT1 FGF1 FGF10 FGF9
19 no phenotypic analysis MP:0003012 10.01 PTCH1 IHH MARK3 EFNB1 EXT1 FGFR1
20 neoplasm MP:0002006 10 FOXM1 PTCH1 AKT3 EXT1 FGF2 FGFR3
21 reproductive system MP:0005389 10 PTCH1 EFNB1 AKT3 FGF2 FGF10 FGF7
22 renal/urinary system MP:0005367 9.87 PTCH1 FGF7 FGF10 FGF8 FGFR1 FGFR3
23 respiratory system MP:0005388 9.81 PTCH1 IHH EFNB1 FGF10 FGF9 FGF8
24 skeleton MP:0005390 9.8 IHH RAB23 PTCH1 TWIST1 EXT1 EFNB1
25 vision/eye MP:0005391 9.44 IHH RAB23 PTCH1 FGF10 EXT1 EFNB1

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 29 FGFR3
2 Coronal Craniosynostosis 29

Anatomical Context for Muenke Syndrome

MalaCards organs/tissues related to Muenke Syndrome:

41
Bone, Skin, Testes, Temporal Lobe

Publications for Muenke Syndrome

Articles related to Muenke Syndrome:

(show all 33)
# Title Authors Year
1
A patient with Muenke syndrome manifesting migrating neonatal seizures. ( 28551036 )
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
Muenke syndrome: An international multicenter natural history study. ( 26740388 )
2016
4
Assessing the midface in Muenke syndrome: A cephalometric analysis and review of the literature. ( 27449747 )
2016
5
Expansion of the variable expression of Muenke syndrome: Hydrocephalus without craniosynostosis. ( 27568649 )
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
Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism. ( 23378035 )
2013
11
A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation - case report and review of the literature. ( 24168007 )
2013
12
Muenke syndrome mutation, FgfR3PA^a8'a8'R, causes TMJ defects. ( 22622662 )
2012
13
Muenke syndrome associated with multiple osteochondromas. ( 22446440 )
2012
14
Phenotype profile of a genetic mouse model for Muenke syndrome. ( 22872265 )
2012
15
Palatal and oral manifestations of Muenke syndrome (FGFR3-related craniosynostosis). ( 22565872 )
2012
16
Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis. ( 23044018 )
2012
17
The Muenke syndrome mutation (FgfR3P244R) causes cranial base shortening associated with growth plate dysfunction and premature perichondrial ossification in murine basicranial synchondroses. ( 22016144 )
2011
18
Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype. ( 21204234 )
2011
19
Prenatal diagnosis of craniosynostosis: sonographic features of Muenke syndrome. ( 22085076 )
2011
20
Coronal synostosis syndrome (Muenke syndrome): the value of genetic testing versus clinical diagnosis. ( 21233754 )
2011
21
Additional phenotypic features of Muenke syndrome in 2 Dutch families. ( 21403557 )
2011
22
Genetic-environmental interaction in a unique case of Muenke syndrome with intracranial hypertension. ( 21971908 )
2011
23
A Korean family with the Muenke syndrome. ( 20592905 )
2010
24
Significant phenotypic variability of Muenke syndrome in identical twins. ( 19449410 )
2009
25
Muenke syndrome with osteochondroma. ( 19097163 )
2009
26
A young patient with polyarthralgia and hearing loss: a case report of Muenke syndrome. ( 19449001 )
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

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

75
# 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
2 FGFR3 NM_000142.4(FGFR3): c.749C> G (p.Pro250Arg) single nucleotide variant Pathogenic rs4647924 GRCh38 Chromosome 4, 1801844: 1801844

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 57)
# 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
13.94 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
13.66 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
8
Show member pathways
13.62 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
9
Show member pathways
13.6 AKT3 EFNB1 FGF1 FGF10 FGF2 FGF7
10
Show member pathways
13.55 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
13.42 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
15
Show member pathways
13.38 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
13.09 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
20
Show member pathways
12.99 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
21
Show member pathways
12.89 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
22 12.88 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
23
Show member pathways
12.86 AKT3 ARID1B FGF1 FGF10 FGF2 FGF7
24
Show member pathways
12.83 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
25
Show member pathways
12.82 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
26
Show member pathways
12.8 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
27 12.78 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
28
Show member pathways
12.71 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
12.49 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 12.28 EFNB1 FGF1 FGF2 FGFR1 FGFR2 FGFR3
36 12.22 AKT3 FGF2 FGFR1 FGFR2 FGFR3
37
Show member pathways
12.2 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
38 12.17 AKT3 FGFR1 FGFR2 FGFR3
39 12.12 FGF10 FGF13 FGF2 FGF7
40
Show member pathways
12.12 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
41
Show member pathways
12.08 FGFR1 FGFR2 FGFR3
42 12.08 FGF2 FGF8 FGFR1 FGFR2 FGFR3 TWIST1
43
Show member pathways
12.03 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
44
Show member pathways
12.01 FGF1 FGF2 FGF8 FGF9 FGFR1
45
Show member pathways
12.01 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
46 12 EFNB1 FGF1 FGF2 FGFR1 FGFR2 FGFR3
47 11.95 FGF10 FGF2 FGF8 FGFR1 FGFR3
48 11.85 FGF2 FGFR1 FGFR3 IHH PTCH1
49 11.8 AKT3 FGFR1 FGFR2 FGFR3
50
Show member pathways
11.78 FGF1 FGF2 FGF8 FGF9 FGFR3

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 89)
# Name GO ID Score Top Affiliating Genes
1 lung development GO:0030324 9.99 FGF1 FGF10 FGF8 FGF9 FGFR1 FGFR2
2 positive regulation of protein kinase B signaling GO:0051897 9.97 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
3 inner ear morphogenesis GO:0042472 9.95 FGF10 FGF8 FGF9 FGFR1 FGFR2
4 positive regulation of cell division GO:0051781 9.95 FGF1 FGF2 FGF7 FGF8 FGF9 FGFR2
5 positive regulation of epithelial cell proliferation GO:0050679 9.95 FGF1 FGF10 FGF7 FGF9 FGFR2 IHH
6 epidermis development GO:0008544 9.94 FGF10 FGF7 PTCH1
7 neuron migration GO:0001764 9.94 FGF13 FGFR1 TWIST1
8 osteoblast differentiation GO:0001649 9.94 FGF9 IHH TWIST1
9 response to estradiol GO:0032355 9.94 FGF10 IHH PTCH1
10 embryonic limb morphogenesis GO:0030326 9.94 FGF9 FGFR1 PTCH1 TWIST1
11 wound healing GO:0042060 9.93 FGF10 FGF2 FGFR2
12 ossification GO:0001503 9.93 EXT1 IHH TWIST1
13 positive regulation of kinase activity GO:0033674 9.92 FGFR1 FGFR2 FGFR3
14 positive chemotaxis GO:0050918 9.92 FGF10 FGF2 FGF7 FGF8
15 negative regulation of cell differentiation GO:0045596 9.91 FGF10 IHH TWIST1
16 positive regulation of MAP kinase activity GO:0043406 9.91 FGF1 FGF2 FGFR1
17 phosphatidylinositol phosphorylation GO:0046854 9.91 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
18 bone development GO:0060348 9.9 FGF8 FGFR2 TWIST1
19 positive regulation of blood vessel endothelial cell migration GO:0043536 9.9 AKT3 FGF2 FGFR1
20 MAPK cascade GO:0000165 9.9 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
21 branching involved in ureteric bud morphogenesis GO:0001658 9.89 FGF2 FGF8 PTCH1
22 positive regulation of cardiac muscle cell proliferation GO:0060045 9.89 FGF2 FGF9 FGFR1 FGFR2
23 chondrocyte differentiation GO:0002062 9.88 FGF9 FGFR1 FGFR3
24 positive regulation of mesenchymal cell proliferation GO:0002053 9.88 FGF9 FGFR1 FGFR2 IHH
25 embryonic pattern specification GO:0009880 9.88 EFNB1 FGF10 FGFR2 IHH
26 odontogenesis GO:0042476 9.87 FGF8 FGFR2 TWIST1
27 hair follicle morphogenesis GO:0031069 9.86 FGF10 FGF7 FGFR2
28 branching involved in salivary gland morphogenesis GO:0060445 9.85 FGF10 FGF7 FGF8 FGFR1 FGFR2
29 limb morphogenesis GO:0035108 9.84 FGF10 FGF8 PTCH1
30 positive regulation of vascular endothelial cell proliferation GO:1905564 9.83 AKT3 FGF2 FGFR1
31 regulation of smoothened signaling pathway GO:0008589 9.83 FGF10 FGFR2 PTCH1
32 embryonic digestive tract morphogenesis GO:0048557 9.83 FGF10 FGFR2 IHH
33 organ induction GO:0001759 9.83 FGF1 FGF10 FGF8 FGFR1
34 positive regulation of phospholipase activity GO:0010518 9.8 FGFR1 FGFR2 FGFR3
35 lung-associated mesenchyme development GO:0060484 9.8 FGF9 FGFR1 FGFR2
36 pharyngeal system development GO:0060037 9.77 FGF8 PTCH1
37 embryonic digestive tract development GO:0048566 9.77 FGF10 FGF9
38 otic vesicle formation GO:0030916 9.77 FGF10 FGF8 FGFR2
39 somite development GO:0061053 9.76 IHH PTCH1
40 generation of neurons GO:0048699 9.76 FGF8 FGFR1
41 mesonephros development GO:0001823 9.75 FGF10 FGF8
42 keratinocyte proliferation GO:0043616 9.75 FGF10 PTCH1
43 organ growth GO:0035265 9.75 FGF10 FGFR2
44 limb bud formation GO:0060174 9.75 FGF10 FGFR2
45 chondrocyte proliferation GO:0035988 9.75 FGFR3 IHH
46 hindlimb morphogenesis GO:0035137 9.75 PTCH1 TWIST1
47 positive regulation of keratinocyte proliferation GO:0010838 9.75 FGF10 FGF7
48 mesenchymal cell differentiation GO:0048762 9.74 FGFR1 FGFR2
49 salivary gland morphogenesis GO:0007435 9.74 FGF10 FGFR1
50 positive regulation of phospholipase C activity GO:0010863 9.74 FGF2 FGFR1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.97 AKT3 FGFR1 FGFR2 FGFR3 MARK3
2 heparin binding GO:0008201 9.97 FGF1 FGF10 FGF2 FGF7 FGF9 FGFR1
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 MAP kinase kinase kinase activity GO:0004709 9.73 FGFR1 FGFR2 FGFR3
10 mitogen-activated protein kinase kinase binding GO:0031434 9.72 FGFR1 FGFR2 FGFR3
11 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.7 FGFR1 FGFR2 FGFR3
12 fibroblast growth factor binding GO:0017134 9.67 FGFR1 FGFR2 FGFR3
13 fibroblast growth factor-activated receptor activity GO:0005007 9.61 FGFR1 FGFR2 FGFR3
14 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.61 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
15 patched binding GO:0005113 9.54 IHH PTCH1
16 receptor-receptor interaction GO:0090722 9.51 FGF2 FGFR1
17 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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