MNKS
MCID: MNK003
MIFTS: 61

Muenke Syndrome (MNKS)

Categories: Bone diseases, Genetic diseases, Rare 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 plagiocephaly and hypochondroplasia. 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 lung, 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 74)
# Related Disease Score Top Affiliating Genes
1 plagiocephaly 30.2 FGFR1 FGFR2 FGFR3 TWIST1
2 hypochondroplasia 30.2 FGFR1 FGFR2 FGFR3
3 semilobar holoprosencephaly 29.9 FGF8 FGFR1 PTCH1
4 synostosis 29.9 EFNB1 FGFR1 FGFR2 FGFR3 RAB23 TWIST1
5 craniosynostosis 29.8 EFNB1 FGF10 FGF2 FGF8 FGF9 FGFR1
6 osteochondroma 29.7 EXT1 FGF2 FGF9 FGFR1 FGFR3
7 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation 12.3
8 menkes disease 12.1
9 glass-chapman-hockley syndrome 11.3
10 baller-gerold syndrome 11.2
11 curry-jones syndrome 11.2
12 fontaine progeroid syndrome 11.2
13 nasodigitoacoustic syndrome 11.1
14 leukemia 10.3
15 myeloid leukemia 10.3
16 isolated plagiocephaly 10.3 FGFR3 TWIST1
17 isolated brachycephaly 10.3 FGFR3 TWIST1
18 acanthoma 10.3 FGF10 FGFR2
19 osteoglophonic dysplasia 10.2 FGFR1 FGFR2 FGFR3
20 jackson-weiss syndrome 10.2 FGFR1 FGFR2 FGFR3
21 hemifacial hyperplasia 10.2 EFNB1 FGFR2 FGFR3
22 occipital horn syndrome 10.2
23 leukemia, acute myeloid 10.2
24 radioulnar synostosis 10.2 FGFR1 FGFR2 FGFR3
25 deafness, autosomal recessive 51 10.2 FGF8 FGFR3
26 beare-stevenson cutis gyrata syndrome 10.2 FGFR2 FGFR3 RAB23
27 achondroplasia 10.2 FGFR1 FGFR2 FGFR3
28 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
29 luteoma 10.2 FGFR2 FGFR3
30 hartsfield syndrome 10.2 FGF8 FGFR1
31 hypertelorism 10.2 EFNB1 FGFR2 TWIST1
32 frontonasal dysplasia 1 10.2
33 gliosarcoma 10.2 FGFR1 FGFR3 TWIST1
34 saethre-chotzen syndrome 10.1 FGFR1 FGFR2 FGFR3 TWIST1
35 prostate cancer 10.1
36 bone development disease 10.1 FGFR1 FGFR2 FGFR3 IHH
37 lung squamous cell carcinoma 10.1 FGF9 FGFR1 FGFR2 FGFR3
38 spastic paraplegia 25, autosomal recessive 10.1 FGF13 FGF2
39 clear cell acanthoma 10.1 FGF10 FGF7 FGFR2
40 clivus chordoma 10.0 FGF13 FGF2 FGFR1
41 hypospadias 10.0 FGF10 FGF8 FGFR2
42 tarsal coalition 10.0
43 brachydactyly 10.0
44 multiple enchondromatosis, maffucci type 10.0 EXT1 IHH
45 synovial chondromatosis 10.0 FGF2 FGF9 FGFR1 FGFR3
46 diaphragmatic hernia, congenital 10.0 EFNB1 FGF10 FGF7
47 down syndrome 10.0
48 holoprosencephaly, semilobar, with craniosynostosis 10.0
49 polydactyly 10.0
50 alacrima, achalasia, and mental retardation syndrome 10.0

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 37)
# 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 dental malocclusion 32 HP:0000689
10 global developmental delay 32 occasional (7.5%) HP:0001263
11 increased intracranial pressure 32 frequent (33%) HP:0002516
12 sensorineural hearing impairment 32 frequent (33%) HP:0000407
13 brachycephaly 32 frequent (33%) HP:0000248
14 strabismus 32 HP:0000486
15 short palm 32 frequent (33%) HP:0004279
16 cone-shaped epiphysis 32 frequent (33%) HP:0010579
17 short foot 32 frequent (33%) HP:0001773
18 high, narrow palate 32 frequent (33%) HP:0002705
19 hypopigmented skin patches 32 occasional (7.5%) HP:0001053
20 hypopigmentation of hair 32 occasional (7.5%) HP:0005599
21 coronal craniosynostosis 32 frequent (33%) HP:0004440
22 downslanted palpebral fissures 32 HP:0000494
23 brachydactyly 32 HP:0001156
24 low anterior hairline 32 HP:0000294
25 midface retrusion 32 HP:0011800
26 proptosis 32 frequent (33%) HP:0000520
27 hypermelanotic macule 32 occasional (7.5%) HP:0001034
28 plagiocephaly 32 frequent (33%) HP:0001357
29 tarsal synostosis 32 frequent (33%) HP:0008368
30 capitate-hamate fusion 32 HP:0001241
31 cone-shaped epiphyses of the phalanges of the hand 32 HP:0010230
32 radial deviation of finger 32 HP:0009466
33 short middle phalanx of finger 32 HP:0005819
34 carpal synostosis 32 frequent (33%) HP:0009702
35 broad hallux 32 HP:0010055
36 short middle phalanx of toe 32 HP:0003795
37 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 AKT3 FGFR1 FGFR3 IHH MARK3
3 Decreased viability GR00221-A-2 10.26 AKT3 FGFR1 FGFR3 IHH MARK3
4 Decreased viability GR00221-A-3 10.26 AKT3 FGFR3
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 AKT3 FGFR1 FGFR3 MARK3
8 Synthetic lethal with vaccinia virus (VACV) infection GR00362-A 9.1 EFNB1 FGF7 FGF9 FOXM1 IHH 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 AKT3 EFNB1 EXT1 FGF10 FGF13 FGF2
2 behavior/neurological MP:0005386 10.47 AKT3 ARID1B EXT1 FGF10 FGF13 FGF2
3 growth/size/body region MP:0005378 10.45 AKT3 ARID1B EFNB1 EXT1 FGF10 FGF7
4 mortality/aging MP:0010768 10.45 AKT3 ARID1B EFNB1 EXT1 FGF10 FGF13
5 homeostasis/metabolism MP:0005376 10.42 AKT3 ARID1B EFNB1 FGF1 FGF10 FGF2
6 cardiovascular system MP:0005385 10.4 AKT3 ARID1B FGF10 FGF2 FGF8 FGF9
7 digestive/alimentary MP:0005381 10.38 EFNB1 EXT1 FGF10 FGF8 FGF9 FGFR1
8 nervous system MP:0003631 10.36 AKT3 ARID1B EFNB1 EXT1 FGF1 FGF10
9 craniofacial MP:0005382 10.35 EFNB1 EXT1 FGF10 FGF8 FGF9 FGFR1
10 hematopoietic system MP:0005397 10.34 AKT3 ARID1B EFNB1 FGF1 FGF10 FGF2
11 embryo MP:0005380 10.33 EFNB1 EXT1 FGF10 FGF8 FGF9 FGFR1
12 immune system MP:0005387 10.31 AKT3 ARID1B EFNB1 FGF10 FGF7 FGF8
13 limbs/digits/tail MP:0005371 10.29 EFNB1 EXT1 FGF10 FGF8 FGF9 FGFR1
14 endocrine/exocrine gland MP:0005379 10.28 AKT3 EFNB1 FGF10 FGF8 FGF9 FGFR1
15 hearing/vestibular/ear MP:0005377 10.27 EFNB1 EXT1 FGF10 FGF2 FGF8 FGF9
16 integument MP:0010771 10.22 EFNB1 EXT1 FGF10 FGF7 FGF9 FGFR1
17 muscle MP:0005369 10.22 ARID1B FGF10 FGF2 FGF8 FGF9 FGFR1
18 normal MP:0002873 10.07 AKT3 EXT1 FGF1 FGF10 FGF8 FGF9
19 no phenotypic analysis MP:0003012 10.01 EFNB1 EXT1 FGFR1 FGFR2 FGFR3 IHH
20 neoplasm MP:0002006 10 AKT3 EXT1 FGF2 FGFR2 FGFR3 FOXM1
21 reproductive system MP:0005389 10 AKT3 EFNB1 FGF10 FGF2 FGF7 FGF8
22 renal/urinary system MP:0005367 9.97 ARID1B FGF10 FGF7 FGF8 FGF9 FGFR1
23 respiratory system MP:0005388 9.81 EFNB1 FGF10 FGF8 FGF9 FGFR2 FGFR3
24 skeleton MP:0005390 9.8 EFNB1 EXT1 FGF10 FGF2 FGF7 FGF8
25 vision/eye MP:0005391 9.44 EFNB1 EXT1 FGF10 FGF2 FGF7 FGF8

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, Lung, Prostate, T Cells, Myeloid, Bone Marrow

Publications for Muenke Syndrome

Articles related to Muenke Syndrome:

(show all 34)
# 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
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
4
Muenke syndrome: An international multicenter natural history study. ( 26740388 )
2016
5
Assessing the midface in Muenke syndrome: A cephalometric analysis and review of the literature. ( 27449747 )
2016
6
Expansion of the variable expression of Muenke syndrome: Hydrocephalus without craniosynostosis. ( 27568649 )
2016
7
Executive Function and Adaptive Behavior in Muenke Syndrome. ( 26028288 )
2015
8
Phenotypic Variability in Two Families of Muenke Syndrome with FGFR3 Mutation. ( 24705944 )
2014
9
Squamosal suture craniosynostosis in Muenke syndrome. ( 24448525 )
2014
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
A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation - case report and review of the literature. ( 24168007 )
2013
13
Muenke syndrome mutation, FgfR3PA^a8'a8'R, causes TMJ defects. ( 22622662 )
2012
14
Muenke syndrome associated with multiple osteochondromas. ( 22446440 )
2012
15
Phenotype profile of a genetic mouse model for Muenke syndrome. ( 22872265 )
2012
16
Palatal and oral manifestations of Muenke syndrome (FGFR3-related craniosynostosis). ( 22565872 )
2012
17
Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis. ( 23044018 )
2012
18
The Muenke syndrome mutation (FgfR3P244R) causes cranial base shortening associated with growth plate dysfunction and premature perichondrial ossification in murine basicranial synchondroses. ( 22016144 )
2011
19
Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype. ( 21204234 )
2011
20
Prenatal diagnosis of craniosynostosis: sonographic features of Muenke syndrome. ( 22085076 )
2011
21
Coronal synostosis syndrome (Muenke syndrome): the value of genetic testing versus clinical diagnosis. ( 21233754 )
2011
22
Additional phenotypic features of Muenke syndrome in 2 Dutch families. ( 21403557 )
2011
23
Genetic-environmental interaction in a unique case of Muenke syndrome with intracranial hypertension. ( 21971908 )
2011
24
A Korean family with the Muenke syndrome. ( 20592905 )
2010
25
Significant phenotypic variability of Muenke syndrome in identical twins. ( 19449410 )
2009
26
Muenke syndrome with osteochondroma. ( 19097163 )
2009
27
A young patient with polyarthralgia and hearing loss: a case report of Muenke syndrome. ( 19449001 )
2009
28
Hearing loss in a mouse model of Muenke syndrome. ( 18818193 )
2009
29
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. ( 18000976 )
2007
30
Craniofacial morphology in Muenke syndrome. ( 17414289 )
2007
31
Trigonocephaly in Muenke syndrome. ( 17036334 )
2006
32
Muenke syndrome. ( 14963686 )
2004
33
Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia. ( 12794698 )
2003
34
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
3 TCF12 NM_207037.1(TCF12): c.1467+1G> C single nucleotide variant Likely pathogenic GRCh38 Chromosome 15, 57253469: 57253469
4 TCF12 NM_207037.1(TCF12): c.1467+1G> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 15, 57545667: 57545667

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 63)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.23 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
2
Show member pathways
14.08 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
3
Show member pathways
13.95 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
4
Show member pathways
13.9 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
5
Show member pathways
13.83 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
6
Show member pathways
13.82 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
7
Show member pathways
13.68 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
8
Show member pathways
13.66 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
9
Show member pathways
13.63 AKT3 EFNB1 FGF1 FGF10 FGF2 FGF7
10
Show member pathways
13.57 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
11
Show member pathways
13.53 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
12
Show member pathways
13.49 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
13
Show member pathways
13.43 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
14
Show member pathways
13.43 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
15
Show member pathways
13.4 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
16
Show member pathways
13.26 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
17
Show member pathways
13.2 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
18
Show member pathways
13.2 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
19
Show member pathways
13.13 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
20
Show member pathways
13 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
21
Show member pathways
12.91 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
22 12.89 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
23
Show member pathways
12.88 AKT3 ARID1B FGF1 FGF10 FGF2 FGF7
24
Show member pathways
12.86 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
25
Show member pathways
12.84 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
26 12.83 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
27
Show member pathways
12.82 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
28
Show member pathways
12.75 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
29 12.67 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
30
Show member pathways
12.55 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
31
Show member pathways
12.51 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
32
Show member pathways
12.5 AKT3 FGFR1 FGFR2 FGFR3
33 12.46 AKT3 FGF2 FGFR1 IHH PTCH1 TWIST1
34
Show member pathways
12.45 AKT3 FGFR1 FGFR2 FGFR3
35
Show member pathways
12.44 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
36
Show member pathways
12.35 AKT3 FGF2 FGFR1 FGFR2 FGFR3
37 12.3 EFNB1 FGF1 FGF2 FGFR1 FGFR2 FGFR3
38
Show member pathways
12.26 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
39 12.24 AKT3 FGF2 FGFR1 FGFR2 FGFR3
40
Show member pathways
12.23 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
41
Show member pathways
12.21 AKT3 FGFR1 FGFR2 FGFR3
42 12.18 AKT3 FGFR1 FGFR2 FGFR3
43
Show member pathways
12.14 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
44 12.13 FGF10 FGF13 FGF2 FGF7
45 12.11 FGF2 FGF8 FGFR1 FGFR2 FGFR3 TWIST1
46
Show member pathways
12.11 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
47
Show member pathways
12.11 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
48 12.03 EFNB1 FGF1 FGF2 FGFR1 FGFR2 FGFR3
49
Show member pathways
12.02 FGF1 FGF2 FGF8 FGF9 FGFR1
50 11.96 FGF10 FGF2 FGF8 FGFR1 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
2 extracellular matrix GO:0031012 9.26 FGF1 FGF10 FGFR2 IHH

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 animal organ morphogenesis GO:0009887 9.99 FGF10 FGF2 FGFR2 PTCH1
2 lung development GO:0030324 9.99 FGF1 FGF10 FGF8 FGF9 FGFR1 FGFR2
3 phosphatidylinositol phosphorylation GO:0046854 9.97 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
4 inner ear morphogenesis GO:0042472 9.95 FGF10 FGF8 FGF9 FGFR1 FGFR2
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 neuron migration GO:0001764 9.94 FGF13 FGFR1 TWIST1
8 epidermis development GO:0008544 9.94 FGF10 FGF7 PTCH1
9 response to estradiol GO:0032355 9.94 FGF10 IHH PTCH1
10 osteoblast differentiation GO:0001649 9.94 FGF9 IHH TWIST1
11 wound healing GO:0042060 9.94 FGF10 FGF2 FGFR2
12 embryonic limb morphogenesis GO:0030326 9.94 FGF9 FGFR1 PTCH1 TWIST1
13 positive regulation of canonical Wnt signaling pathway GO:0090263 9.93 FGF10 FGF9 FGFR2
14 ossification GO:0001503 9.93 EXT1 IHH TWIST1
15 positive chemotaxis GO:0050918 9.93 FGF10 FGF2 FGF7 FGF8
16 negative regulation of cell differentiation GO:0045596 9.91 FGF10 IHH TWIST1
17 positive regulation of MAP kinase activity GO:0043406 9.91 FGF1 FGF2 FGFR1
18 bone development GO:0060348 9.9 FGF8 FGFR2 TWIST1
19 positive regulation of blood vessel endothelial cell migration GO:0043536 9.89 AKT3 FGF2 FGFR1
20 branching involved in ureteric bud morphogenesis GO:0001658 9.89 FGF2 FGF8 PTCH1
21 chondrocyte differentiation GO:0002062 9.88 FGF9 FGFR1 FGFR3
22 positive regulation of cardiac muscle cell proliferation GO:0060045 9.88 FGF2 FGF9 FGFR1 FGFR2
23 positive regulation of mesenchymal cell proliferation GO:0002053 9.88 FGF9 FGFR1 FGFR2 IHH
24 odontogenesis GO:0042476 9.87 FGF8 FGFR2 TWIST1
25 embryonic pattern specification GO:0009880 9.86 EFNB1 FGF10 FGFR2 IHH
26 branching involved in salivary gland morphogenesis GO:0060445 9.85 FGF10 FGF7 FGF8 FGFR1 FGFR2
27 peptidyl-tyrosine phosphorylation GO:0018108 9.85 EFNB1 FGF1 FGF10 FGF2 FGF7 FGF8
28 hair follicle morphogenesis GO:0031069 9.84 FGF10 FGF7 FGFR2
29 regulation of smoothened signaling pathway GO:0008589 9.83 FGF10 FGFR2 PTCH1
30 limb morphogenesis GO:0035108 9.83 FGF10 FGF8 PTCH1
31 positive regulation of vascular endothelial cell proliferation GO:1905564 9.83 AKT3 FGF2 FGFR1
32 organ induction GO:0001759 9.83 FGF1 FGF10 FGF8 FGFR1
33 embryonic digestive tract morphogenesis GO:0048557 9.82 FGF10 FGFR2 IHH
34 lung-associated mesenchyme development GO:0060484 9.8 FGF9 FGFR1 FGFR2
35 positive regulation of phospholipase activity GO:0010518 9.79 FGFR1 FGFR2 FGFR3
36 embryonic digestive tract development GO:0048566 9.77 FGF10 FGF9
37 pharyngeal system development GO:0060037 9.77 FGF8 PTCH1
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 positive regulation of phospholipase C activity GO:0010863 9.75 FGF2 FGFR1
43 organ growth GO:0035265 9.75 FGF10 FGFR2
44 positive regulation of keratinocyte migration GO:0051549 9.75 FGF10 FGF7
45 chondrocyte proliferation GO:0035988 9.75 FGFR3 IHH
46 hindlimb morphogenesis GO:0035137 9.75 PTCH1 TWIST1
47 keratinocyte proliferation GO:0043616 9.74 FGF10 PTCH1
48 limb bud formation GO:0060174 9.74 FGF10 FGFR2
49 mesenchymal cell differentiation GO:0048762 9.74 FGFR1 FGFR2
50 positive regulation of keratinocyte proliferation GO:0010838 9.74 FGF10 FGF7

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

(show all 16)
# 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 9.96 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 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.91 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
6 protein tyrosine kinase activity GO:0004713 9.85 EFNB1 FGF1 FGF10 FGF2 FGF7 FGF8
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 1-phosphatidylinositol-3-kinase activity GO:0016303 9.61 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
13 patched binding GO:0005113 9.55 IHH PTCH1
14 receptor-receptor interaction GO:0090722 9.51 FGF2 FGFR1
15 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.28 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
16 protein binding GO:0005515 10.47 AKT3 ARID1B EFNB1 FGF1 FGF10 FGF13

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
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64 QIAGEN
69 SNOMED-CT via HPO
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71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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