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 54 12 72 23 50 24 25 71 29 13 52 42 14 69
Fgfr3-Related Craniosynostosis 12 24 71
Muenke Nonsyndromic Coronal Craniosynostosis 50 25
Fgfr3-Associated Coronal Synostosis 25 71
Muenke Non-Syndromic Coronal Craniosynostosis 71
Fgfr3-Related Isolated Coronal Synostosis 71
Syndrome of Coronal Craniosynostosis 50
Craniosynostosis, Adelaide Type 69
Adelaide-Type Craniosynostosis 24
Coronal Craniosynostosis 29
Mnks 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

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


HPO:

32
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 fgfr3-related craniosynostosis, is related to hypochondroplasia and hydrocephalus, and has symptoms including brachydactyly, ptosis and hydrocephalus. 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 cellular

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 : 50 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 : 54
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 : 72 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)
id Related Disease Score Top Affiliating Genes
1 hypochondroplasia 30.4 FGFR1 FGFR2 FGFR3
2 hydrocephalus 29.1 FGF8 FGFR1 PTCH1
3 fgfr3-related isolated coronal synostosis 12.3
4 spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation 12.0
5 menkes disease 11.9
6 craniosynostosis, adelaide type 11.1
7 glass-chapman-hockley syndrome 11.1
8 curry-jones syndrome, somatic mosaic 10.9
9 baller-gerold syndrome 10.9
10 gorlin-chaudhry-moss syndrome 10.9
11 nasodigitoacoustic syndrome 10.9
12 gastric linitis plastica 10.8 FGFR3 TWIST1
13 acute opioid poisoning 10.8 FGFR3 TWIST1
14 phkg2-related phosphorylase kinase deficiency 10.8 FGFR1 FGFR2
15 trigonocephaly 1 10.6 FGFR1 FGFR2 FGFR3
16 hypogonadotropic hypogonadism 2 with or without anosmia 10.6 FGFR1 FGFR2 FGFR3
17 thanatophoric dysplasia, type i 10.6 FGFR1 FGFR2 FGFR3
18 squamous cell carcinoma 10.6 FGF10 FGFR2
19 exudative vitreoretinopathy 3 10.6 FGF8 FGFR3
20 apert syndrome 10.6 FGFR2 FGFR3 RAB23
21 encephalocraniocutaneous lipomatosis 10.5 FGF8 FGFR1
22 grade iii astrocytoma 10.5 FGFR1 FGFR3 TWIST1
23 plasmalogens synthesis deficiency isolated 10.4 FGFR1 FGFR2 FGFR3 TWIST1
24 ischemic bone disease 10.4 FGFR1 FGFR2 FGFR3 TWIST1
25 craniosynostosis 1 10.4 FGFR1 FGFR2 FGFR3 TWIST1
26 ocular hypotension 10.4 FGFR2 FGFR3
27 partial of retinal vein occlusion 10.2 FGF10 FGF7 FGFR2
28 mental retardation, autosomal recessive 18 10.2 FGF13 FGF2
29 tooth disease 10.1 FGF10 FGF8 FGFR2
30 crouzon syndrome with acanthosis nigricans 10.1 FGF13 FGF8 FGFR2 FGFR3
31 craniosynostosis 10.1
32 syringobulbia 10.0 FGF2 FGF9 FGFR1 FGFR3
33 ureter transitional cell carcinoma 10.0 FGFR1 PTCH1
34 occipital horn syndrome 9.9
35 osteopoikilosis 9.9 EFNB1 FGFR1 FGFR2 FGFR3 RAB23 TWIST1
36 leukemia 9.8
37 prostate cancer 9.8
38 prostatitis 9.8
39 myeloid leukemia 9.8
40 osteochondroma 9.8
41 y-linked disease 9.8 FGFR2 FGFR3 PTCH1
42 pelizaeus-merzbacher disease in female carriers 9.8 FGF8 FGFR1 PTCH1
43 laryngotracheoesophageal cleft type 4 9.8 FGF8 FGFR1 PTCH1
44 isolated facial myokymia 9.8 FGF8 FGFR1 PTCH1
45 sporadic pheochromocytoma 9.7 FGF8 PTCH1
46 lymphoma 9.7
47 cutaneous t cell lymphoma 9.7
48 breast cancer 9.7
49 myeloproliferative neoplasm 9.7
50 neuronitis 9.7

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:

54

Head And Neck- Mouth:
high-arched palate

Neurologic- Central Nervous System:
mental retardation
developmental delay

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

Head And Neck- Head:
macrocephaly
brachycephaly
plagiocephaly

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

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

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

Head And Neck- Eyes:
downslanting palpebral fissures
ptosis
hypertelorism

Head And Neck- Ears:
hearing loss, sensorineural

Growth- Height:
normal height

Skin Nails & Hair- Hair:
low-set frontal hairline


Clinical features from OMIM:

602849

Human phenotypes related to Muenke Syndrome:

32 (show all 35)
id Description HPO Frequency HPO Source Accession
1 brachydactyly 32 HP:0001156
2 ptosis 32 frequent (33%) HP:0000508
3 hydrocephalus 32 occasional (7.5%) HP:0000238
4 hypertelorism 32 frequent (33%) HP:0000316
5 proptosis 32 frequent (33%) HP:0000520
6 global developmental delay 32 occasional (7.5%) HP:0001263
7 low anterior hairline 32 HP:0000294
8 macrocephaly 32 occasional (7.5%) HP:0000256
9 intellectual disability 32 HP:0001249
10 clinodactyly 32 HP:0030084
11 brachycephaly 32 frequent (33%) HP:0000248
12 midface retrusion 32 HP:0011800
13 broad hallux 32 HP:0010055
14 plagiocephaly 32 frequent (33%) HP:0001357
15 downslanted palpebral fissures 32 HP:0000494
16 high palate 32 HP:0000218
17 sensorineural hearing impairment 32 frequent (33%) HP:0000407
18 malar flattening 32 frequent (33%) HP:0000272
19 hypopigmented skin patches 32 occasional (7.5%) HP:0001053
20 tarsal synostosis 32 frequent (33%) HP:0008368
21 coronal craniosynostosis 32 frequent (33%) HP:0004440
22 carpal synostosis 32 frequent (33%) HP:0009702
23 high, narrow palate 32 frequent (33%) HP:0002705
24 increased intracranial pressure 32 frequent (33%) HP:0002516
25 capitate-hamate fusion 32 HP:0001241
26 short palm 32 frequent (33%) HP:0004279
27 cone-shaped epiphysis 32 frequent (33%) HP:0010579
28 short foot 32 frequent (33%) HP:0001773
29 hypopigmentation of hair 32 occasional (7.5%) HP:0005599
30 hypermelanotic macule 32 occasional (7.5%) HP:0001034
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 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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.83 MARK3
2 Decreased viability GR00221-A-1 9.83 AKT3 FGFR1 FGFR3 IHH MARK3
3 Decreased viability GR00221-A-2 9.83 MARK3 AKT3 FGFR1 FGFR3 IHH
4 Decreased viability GR00221-A-3 9.83 AKT3 FGFR3
5 Decreased viability GR00221-A-4 9.83 MARK3 AKT3
6 Decreased viability GR00301-A 9.83 AKT3

MGI Mouse Phenotypes related to Muenke Syndrome:

44 (show all 25)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.46 AKT3 EFNB1 EXT1 FGF10 FGF13 FGF2
2 behavior/neurological MP:0005386 10.44 AKT3 EXT1 FGF10 FGF13 FGF2 FGF7
3 growth/size/body region MP:0005378 10.42 AKT3 EFNB1 EXT1 FGF10 FGF7 FGF8
4 mortality/aging MP:0010768 10.4 MARK3 PTCH1 RAB23 TWIST1 AKT3 EFNB1
5 homeostasis/metabolism MP:0005376 10.36 MARK3 PTCH1 AKT3 EFNB1 FGF1 FGF10
6 craniofacial MP:0005382 10.35 EFNB1 EXT1 FGF10 FGF8 FGF9 FGFR1
7 digestive/alimentary MP:0005381 10.34 FGF8 FGF9 FGFR1 FGFR2 FGFR3 IHH
8 hematopoietic system MP:0005397 10.34 AKT3 ARID1B EFNB1 FGF1 FGF10 FGF2
9 nervous system MP:0003631 10.34 AKT3 EFNB1 EXT1 FGF1 FGF10 FGF13
10 cardiovascular system MP:0005385 10.32 FGFR1 FGFR2 IHH PTCH1 TWIST1 AKT3
11 embryo MP:0005380 10.29 EFNB1 EXT1 FGF10 FGF8 FGFR1 FGFR2
12 limbs/digits/tail MP:0005371 10.29 EFNB1 EXT1 FGF10 FGF8 FGF9 FGFR1
13 endocrine/exocrine gland MP:0005379 10.24 AKT3 EFNB1 FGF10 FGF8 FGF9 FGFR1
14 immune system MP:0005387 10.24 AKT3 ARID1B EFNB1 FGF10 FGF7 FGF8
15 hearing/vestibular/ear MP:0005377 10.22 EFNB1 EXT1 FGF10 FGF2 FGF8 FGF9
16 integument MP:0010771 10.22 EFNB1 EXT1 FGF10 FGF7 FGF9 FGFR1
17 muscle MP:0005369 10.13 FGF10 FGF2 FGF8 FGF9 FGFR1 FGFR2
18 normal MP:0002873 10.07 AKT3 EXT1 FGF1 FGF10 FGF8 FGF9
19 no phenotypic analysis MP:0003012 10.01 MARK3 PTCH1 EFNB1 EXT1 FGFR1 FGFR2
20 reproductive system MP:0005389 10 FGF10 FGF2 FGF7 FGF8 FGF9 FGFR1
21 neoplasm MP:0002006 9.93 AKT3 EXT1 FGF2 FGFR2 FGFR3 PTCH1
22 renal/urinary system MP:0005367 9.87 FGFR2 FGFR3 PTCH1 FGF10 FGF7 FGF8
23 skeleton MP:0005390 9.8 EFNB1 EXT1 FGF10 FGF2 FGF7 FGF8
24 respiratory system MP:0005388 9.76 EFNB1 FGF10 FGF8 FGF9 FGFR2 FGFR3
25 vision/eye MP:0005391 9.44 EXT1 FGF10 FGF2 FGF7 FGF8 FGF9

Drugs & Therapeutics for Muenke Syndrome

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Muenke Syndrome 29 24 FGFR3
2 Coronal Craniosynostosis 29
3 Fgfr3-Related Craniosynostosis 24 FGFR3

Anatomical Context for Muenke Syndrome

MalaCards organs/tissues related to Muenke Syndrome:

39
Bone, Skin, Testes, Temporal Lobe

Publications for Muenke Syndrome

Articles related to Muenke Syndrome:

(show all 33)
id 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
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
Talocalcaneal coalition in Muenke syndrome: report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism. ( 23378035 )
2013
10
Genetic rescue of Muenke syndrome model hearing loss reveals prolonged FGF-dependent plasticity in cochlear supporting cell fates. ( 24145799 )
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
Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis. ( 23044018 )
2012
13
Palatal and oral manifestations of Muenke syndrome (FGFR3-related craniosynostosis). ( 22565872 )
2012
14
Muenke syndrome mutation, FgfR3PA^a8'a8'R, causes TMJ defects. ( 22622662 )
2012
15
Phenotype profile of a genetic mouse model for Muenke syndrome. ( 22872265 )
2012
16
Muenke syndrome associated with multiple osteochondromas. ( 22446440 )
2012
17
Prenatal diagnosis of craniosynostosis: sonographic features of Muenke syndrome. ( 22085076 )
2011
18
Additional phenotypic features of Muenke syndrome in 2 Dutch families. ( 21403557 )
2011
19
Coronal synostosis syndrome (Muenke syndrome): the value of genetic testing versus clinical diagnosis. ( 21233754 )
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
Genetic-environmental interaction in a unique case of Muenke syndrome with intracranial hypertension. ( 21971908 )
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
Significant phenotypic variability of Muenke syndrome in identical twins. ( 19449410 )
2009
25
Hearing loss in a mouse model of Muenke syndrome. ( 18818193 )
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
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
id Symbol AA change Variation ID SNP ID
1 FGFR3 p.Pro250Arg VAR_004150 rs4647924

ClinVar genetic disease variations for Muenke Syndrome:

6
id 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 54)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
14.21 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
2
Show member pathways
14.07 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
3
Show member pathways
13.93 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
4
Show member pathways
13.88 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
5
Show member pathways
13.8 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
6
Show member pathways
13.8 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
7
Show member pathways
13.64 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
8
Show member pathways
13.63 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
9
Show member pathways
13.58 AKT3 EFNB1 FGF1 FGF10 FGF2 FGF7
10
Show member pathways
13.54 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
11
Show member pathways
13.5 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
12
Show member pathways
13.45 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
13
Show member pathways
13.41 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
14
Show member pathways
13.4 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
15
Show member pathways
13.37 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
16
Show member pathways
13.16 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
17
Show member pathways
13.16 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
18
Show member pathways
12.96 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
19
Show member pathways
12.82 AKT3 FGF1 FGF10 FGF2 FGF7 FGF8
20
Show member pathways
12.81 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
21 12.77 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
22
Show member pathways
12.75 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
23
Show member pathways
12.7 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
24 12.69 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
25 12.69 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
26
Show member pathways
12.64 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
27
Show member pathways
12.51 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
28
Show member pathways
12.48 AKT3 FGFR1 FGFR2 FGFR3
29
Show member pathways
12.43 AKT3 FGFR1 FGFR2 FGFR3
30 12.43 AKT3 FGF2 FGFR1 IHH PTCH1 TWIST1
31
Show member pathways
12.35 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
32
Show member pathways
12.33 AKT3 FGF2 FGFR1 FGFR2 FGFR3
33 12.25 EFNB1 FGF1 FGF2 FGFR1 FGFR2 FGFR3
34
Show member pathways
12.23 AKT3 FGFR1 FGFR2 FGFR3
35
Show member pathways
12.23 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
36 12.21 AKT3 FGF2 FGFR1 FGFR2 FGFR3
37 12.12 FGF10 FGF13 FGF2 FGF7
38
Show member pathways
12.11 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
39
Show member pathways
12.11 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
40 12.07 FGF2 FGF8 FGFR1 FGFR2 FGFR3 TWIST1
41
Show member pathways
12 FGF1 FGF2 FGF8 FGF9 FGFR1
42 12 AKT3 FGF1 FGF10 FGF13 FGF2 FGF7
43 11.97 EFNB1 FGF1 FGF2 FGFR1 FGFR2 FGFR3
44 11.93 FGF10 FGF2 FGF8 FGFR1 FGFR3
45 11.87 FGF10 FGF2 FGF8
46 11.85 FGF1 FGF10 FGF13 FGF2 FGF7 FGF8
47 11.83 FGF2 FGFR1 FGFR3 IHH PTCH1
48 11.79 AKT3 FGFR1 FGFR2 FGFR3
49
Show member pathways
11.77 FGF1 FGF2 FGF8 FGF9 FGFR3
50 11.68 FGF1 FGF2 FGF7

GO Terms for Muenke Syndrome

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

id 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 86)
id 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 9.99 FGF10 FGF9 FGFR1 FGFR2 FGFR3
3 lung development GO:0030324 9.99 FGF1 FGF10 FGF8 FGF9 FGFR1 FGFR2
4 positive regulation of epithelial cell proliferation GO:0050679 9.98 FGF1 FGF10 FGF7 FGF9 FGFR2 IHH
5 inner ear morphogenesis GO:0042472 9.95 FGF10 FGF8 FGF9 FGFR1 FGFR2
6 positive regulation of cell division GO:0051781 9.95 FGF1 FGF2 FGF7 FGF8 FGF9 FGFR2
7 activation of MAPK activity GO:0000187 9.94 FGF1 FGF10 FGF2
8 epidermis development GO:0008544 9.94 FGF10 FGF7 PTCH1
9 embryonic limb morphogenesis GO:0030326 9.94 FGF9 FGFR1 PTCH1 TWIST1
10 osteoblast differentiation GO:0001649 9.93 FGF9 IHH TWIST1
11 neuron migration GO:0001764 9.93 FGF13 FGFR1 TWIST1
12 response to estradiol GO:0032355 9.93 FGF10 IHH PTCH1
13 wound healing GO:0042060 9.93 FGF10 FGF2 FGFR2
14 positive chemotaxis GO:0050918 9.92 FGF10 FGF2 FGF7 FGF8
15 positive regulation of cardiac muscle cell proliferation GO:0060045 9.91 FGF2 FGF9 FGFR1 FGFR2
16 phosphatidylinositol phosphorylation GO:0046854 9.91 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
17 positive regulation of MAP kinase activity GO:0043406 9.9 FGF1 FGF2 FGFR1
18 bone development GO:0060348 9.89 FGF8 FGFR2 TWIST1
19 branching involved in ureteric bud morphogenesis GO:0001658 9.88 FGF2 FGF8 PTCH1
20 positive regulation of mesenchymal cell proliferation GO:0002053 9.88 FGF9 FGFR1 FGFR2 IHH
21 embryonic pattern specification GO:0009880 9.88 EFNB1 FGF10 FGFR2 IHH
22 chondrocyte differentiation GO:0002062 9.87 FGF9 FGFR1 FGFR3
23 odontogenesis GO:0042476 9.87 FGF8 FGFR2 TWIST1
24 hair follicle morphogenesis GO:0031069 9.86 FGF10 FGF7 FGFR2
25 branching involved in salivary gland morphogenesis GO:0060445 9.85 FGF10 FGF7 FGF8 FGFR1 FGFR2
26 limb morphogenesis GO:0035108 9.83 FGF10 FGF8 PTCH1
27 regulation of smoothened signaling pathway GO:0008589 9.83 FGF10 FGFR2 PTCH1
28 organ induction GO:0001759 9.83 FGF1 FGF10 FGF8 FGFR1
29 embryonic digestive tract morphogenesis GO:0048557 9.82 FGF10 FGFR2 IHH
30 lung-associated mesenchyme development GO:0060484 9.81 FGF9 FGFR1 FGFR2
31 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.81 FGF1 FGF10 FGF2 FGF7 FGF8 FGF9
32 positive regulation of phospholipase activity GO:0010518 9.8 FGFR1 FGFR2 FGFR3
33 otic vesicle formation GO:0030916 9.79 FGF10 FGF8 FGFR2
34 pharyngeal system development GO:0060037 9.76 FGF8 PTCH1
35 embryonic digestive tract development GO:0048566 9.76 FGF10 FGF9
36 somite development GO:0061053 9.76 IHH PTCH1
37 positive regulation of vascular endothelial growth factor receptor signaling pathway GO:0030949 9.75 FGF10 FGF9
38 ossification GO:0001503 9.75 EXT1 TWIST1
39 mesonephros development GO:0001823 9.75 FGF10 FGF8
40 generation of neurons GO:0048699 9.75 FGF8 FGFR1
41 organ growth GO:0035265 9.75 FGF10 FGFR2
42 keratinocyte proliferation GO:0043616 9.74 FGF10 PTCH1
43 hindlimb morphogenesis GO:0035137 9.74 PTCH1 TWIST1
44 chondrocyte proliferation GO:0035988 9.74 FGFR3 IHH
45 positive regulation of sprouting angiogenesis GO:1903672 9.74 FGF1 FGF2
46 salivary gland morphogenesis GO:0007435 9.74 FGF10 FGFR1
47 limb bud formation GO:0060174 9.74 FGF10 FGFR2
48 positive regulation of keratinocyte proliferation GO:0010838 9.74 FGF10 FGF7
49 regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling GO:0060665 9.74 FGF10 FGF7 FGFR1
50 mesenchymal cell differentiation GO:0048762 9.73 FGFR1 FGFR2

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

(show all 15)
id 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

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16 ExPASy
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